Autosomal hereditary disorder

Autosomal recessive hereditary disorder (disorder)
	Autosomal recessive hereditary disorder
	Recessive hereditary disorder (autosomal) Hereditary disorder trait (autosomal)

Id	85995004
Status	Primitive

SNOMED CT to ICD-10 extended map

Target	Q99.9
Rule	TRUE
Advice	ALWAYS Q99.9
Correlation	SNOMED CT source code to target map code correlation not specified

2-aminoadipic 2-oxoadipic aciduria

2-methylbutyryl-coenzyme A dehydrogenase deficiency disease

2p21 microdeletion syndrome without cystinuria

3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency

3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency

3-M syndrome

3-Methylglutaconic aciduria type 1

3-Methylglutaconic aciduria type 3

3-Methylglutaconic aciduria type 41

3-methylglutaconic aciduria type 5

3-methylglutaconic aciduria type 7

3-methylglutaconic aciduria type 9

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

3-phosphoglycerate dehydrogenase deficiency infantile form

3-phosphoglycerate dehydrogenase deficiency juvenile form

46,XX disorder of sex development with skeletal anomalies syndrome

46,XX ovarian dysgenesis, short stature syndrome

46,XY disorder of sex development due to isolated 17,20-lyase deficiency

46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome

4H leukodystrophy3

5,10-Methylenetetrahydrofolate reductase deficiency

5-amino-4-imidazole carboxamide ribosiduria

5-Oxoprolinase deficiency

7p22.1 microduplication syndrome

Abetalipoproteinemia1

Absent thumb with short stature and immunodeficiency syndrome

Absent tibia, polydactyly, arachnoid cyst syndrome

Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome

Achalasia microcephaly syndrome

Achromatopsia2

Acid phosphatase deficiency

Ackerman syndrome

Acro-oto-ocular syndrome

Acrocallosal syndrome

Acrocapitofemoral dysplasia

Acrocardiofacial syndrome

Acrocephalopolydactyly

Acrocephalopolysyndactyly type II

Acrocraniofacial dysostosis

Acrofacial dysostosis Kennedy Teebi type

Acrofacial dysostosis Rodriguez type

Acrofrontofacionasal dysostosis

Acrofrontofacionasal dysostosis type 2

Acromesomelic dysplasia Hunter-Thompson type

Acromesomelic dysplasia Maroteaux type

Acrorenal mandibular syndrome

Action myoclonus renal failure syndrome

Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein

Acute infantile liver failure with multisystemic involvement syndrome

Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome

Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate

Acyl-CoA dehydrogenase 9 deficiency

Acyl-CoA oxidase deficiency

Adducted thumbs and arthrogryposis syndrome Christian type

Adenylosuccinate lyase deficiency

Adenylosuccinate synthetase-like 1-related distal myopathy

Adult polyglucosan body disease

Adult-onset autosomal recessive cerebellar ataxia

Adult-onset autosomal recessive sideroblastic anemia

Adult-onset dystonia parkinsonism

Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency

Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome

Aicardi Goutieres syndrome type 2

Aicardi Goutieres syndrome type 3

Aicardi Goutieres syndrome type 4

Aicardi Goutieres syndrome type 5

Albinotic fundus

ALG1 congenital disorder of glycosylation

ALG12-congenital disorder of glycosylation

ALG3 congenital disorder of glycosylation

ALG8 congenital disorder of glycosylation

ALG9 congenital disorder of glycosylation

Alkaline ceramidase 3 deficiency

Alkuraya Kucinskas syndrome

Alopecia, contracture, dwarfism, intellectual disability syndrome

Alopecia, epilepsy, intellectual disability syndrome Moynahan type

Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections

Alopecia, progressive neurological defect, endocrinopathy syndrome

Alpha-1-antitrypsin deficiency

Alpha-methylacyl-CoA racemase deficiency disorder

Alpha-N-acetylgalactosaminidase deficiency3

Alport syndrome autosomal recessive

Alstrom syndrome

Amaurosis hypertrichosis syndrome

AMeD syndrome

Amelocerebrohypohidrotic syndrome

Amelogenesis imperfecta - recessive - rough

Amelogenesis imperfecta and gingival hyperplasia syndrome

Amelogenesis imperfecta, pigmented hypomaturation type

Aminomethyltransferase deficiency

Amish lethal microcephaly

Amish nemaline myopathy

Amyotonia congenita

Andermann syndrome

Aniridia, renal agenesis, psychomotor retardation syndrome

ANK3-related intellectual disability, sleep disturbance syndrome

Anonychia with microcephaly syndrome

Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome

Anophthalmia plus syndrome

Anterior maxillary protrusion, strabismus, intellectual disability syndrome

Antley-Bixler syndrome

Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome

Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome

Aplasia cutis congenita with intestinal lymphangiectasia syndrome

Aplasia cutis with myopia syndrome

Arginase deficiency

Arginine:glycine amidinotransferase deficiency

Argininosuccinate lyase deficiency

Aromatic L-amino acid decarboxylase deficiency disorder

Arterial tortuosity syndrome

Arthrogryposis and ectodermal dysplasia syndrome

Aspartylglucosaminuria

Ataxia with vitamin E deficiency

Ataxia-telangiectasia syndrome

Ateliotic dwarfism without insulinopenia

Atelosteogenesis type 2

Athabaskan brainstem dysgenesis syndrome

Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome

ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis

Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome

Atrophoderma vermiculatum

Attenuated Chédiak-Higashi syndrome

Atypical dentin dysplasia due to SMOC2 deficiency

Atypical Krabbe disease due to saposin A deficiency

Atypical pantothenate kinase associated neurodegeneration

Auditory neuropathy, optic atrophy syndrome

Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Autism spectrum disorder, epilepsy, arthrogryposis syndrome

Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome

Autoimmune lymphoproliferative syndrome with recurrent viral infection

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis1

Autosomal recessive agammaglobulinemia9

Autosomal recessive agammaglobulinemia due to FNIP1 deficiency

Autosomal recessive amelia

Autosomal recessive amyotrophic lateral sclerosis type 1

Autosomal recessive asexual dwarfism

Autosomal recessive ataxia due to ubiquinone deficiency

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive bestrophinopathy

Autosomal recessive bilateral optic atrophy

Autosomal recessive brachyolmia

Autosomal recessive central core disease

Autosomal recessive cerebellar ataxia Beauce type

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1

Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2

Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome

Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency

Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency

Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency

Autosomal recessive cerebellar ataxia, psychomotor delay syndrome

Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome

Autosomal recessive cerebelloparenchymal disorder type 3

Autosomal recessive cerebral atrophy

Autosomal recessive Charcot-Marie-Tooth disease type 210

Autosomal recessive chorioretinopathy and microcephaly syndrome

Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect

Autosomal recessive combined immunodeficiency due to BCL10 mutation

Autosomal recessive combined immunodeficiency due to CD28 mutation

Autosomal recessive combined immunodeficiency due to CHUK mutation

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Autosomal recessive combined immunodeficiency due to COPG1 deficiency

Autosomal recessive combined immunodeficiency due to ICOS deficiency

Autosomal recessive combined immunodeficiency due to ICOSLG deficiency

Autosomal recessive combined immunodeficiency due to IL6R deficiency

Autosomal recessive combined immunodeficiency due to ITPKB mutation

Autosomal recessive combined immunodeficiency due to MAN2B2 mutation

Autosomal recessive combined immunodeficiency due to MCM10 deficiency

Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency

Autosomal recessive combined immunodeficiency due to PAX1 mutation

Autosomal recessive combined immunodeficiency due to POLD1 mutation

Autosomal recessive combined immunodeficiency due to POLD2 mutation

Autosomal recessive combined immunodeficiency due to REL mutation

Autosomal recessive combined immunodeficiency due to RELB mutation

Autosomal recessive combined immunodeficiency due to WIP deficiency

Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation

Autosomal recessive combined variable immunodeficiency due to BAFF receptor deficiency

Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation

Autosomal recessive common variable immunodeficiency due to CD20 mutation

Autosomal recessive common variable immunodeficiency due to CD21 mutation

Autosomal recessive common variable immunodeficiency due to CD81 deficiency

Autosomal recessive common variable immunodeficiency due to POU2AF1 mutation

Autosomal recessive common variable immunodeficiency due to RAC2 deficiency

Autosomal recessive congenital fiber-type disproportion myopathy due to ACTA1 mutation

Autosomal recessive congenital fiber-type disproportion myopathy due to SELENON mutation

Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation

Autosomal recessive congenital methemoglobinemia2

Autosomal recessive distal hereditary motor neuropathy4

Autosomal recessive distal osteolysis syndrome

Autosomal recessive DNA repair defect due to LIG1 deficiency

Autosomal recessive DNA repair defect due to POLE2 deficiency

Autosomal recessive dysgenesis of anterior segment of eye

Autosomal recessive dyskeratosis congenita

Autosomal recessive Emery-Dreifuss muscular dystrophy

Autosomal recessive epidermolysis bullosa simplex8

Autosomal recessive extra-oral halitosis

Autosomal recessive facio-digito-genital syndrome

Autosomal recessive familial Parkinson disease

Autosomal recessive familial wooly hair3

Autosomal recessive frontotemporal pachygyria

Autosomal recessive hereditary arginine vasopressin deficiency

Autosomal recessive hereditary spastic paraplegia53

Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

Autosomal recessive hyperimmunoglobulin M syndrome7

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Autosomal recessive hypophosphatemic bone disease2

Autosomal recessive ichthyosis22

Autosomal recessive idiopathic familial dystonia3

Autosomal recessive infantile hypercalcemia

Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

Autosomal recessive isolated optic atrophy

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive lymphoproliferative disease

Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation

Autosomal recessive mendelian susceptibility to mycobacterial disease due to IL23R deficiency

Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency

Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency

Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency

Autosomal recessive muscular dystrophy not predominantly limb girdle1

Autosomal recessive muscular dystrophy with limb girdle distribution31

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive nail dysplasia

Autosomal recessive ocular albinism

Autosomal recessive omodysplasia

Autosomal recessive optic atrophy type 6

Autosomal recessive optic atrophy type 7

Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome

Autosomal recessive popliteal pterygium syndrome

Autosomal recessive predisposition to severe viral infection due to TLR3 deficiency

Autosomal recessive predisposition to severe viral infection due to UNC93B1 deficiency

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

Autosomal recessive primary microcephaly

Autosomal recessive progressive external ophthalmoplegia

Autosomal recessive pseudoxanthoma elasticum

Autosomal recessive retinitis pigmentosa13

Autosomal recessive Robinow syndrome

Autosomal recessive SCID (severe combined immunodeficiency disease)25

Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

Autosomal recessive sick sinus syndrome

Autosomal recessive sideroblastic anemia

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia with leukoencephalopathy

Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome

Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

Autosomal recessive spondylometaphyseal dysplasia Megarbane type

Autosomal recessive vasopressin resistance

Axial spondylometaphyseal dysplasia

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

Baller-Gerold syndrome

Bamforth Lazarus syndrome

Bardet-Biedl syndrome

Bartter syndrome4

Basel Vanagaite Smirin Yosef syndrome

Beemer Ertbruggen syndrome

Behr syndrome

Benign ethnic neutropenia

Benign intrahepatic cholestasis type 1

Benign Samaritan congenital myopathy

Beta-aminoisobutyric aciduria

Beta-D-mannosidosis

Beta-mercaptolactate cysteine disulfiduria

Bietti's crystalline retinopathy

Bilateral frontoparietal polymicrogyria

Bilateral microtia with deafness and cleft palate syndrome

Biotin-thiamine-responsive basal ganglia disease

Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency

Blepharophimosis, intellectual disability syndrome, Verloes type

Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome

Blomstrand dysplasia

BNAR syndrome

Bone dysplasia lethal Holmgren type

Bosley Salih Alorainy syndrome

Bothnia retinal dystrophy

Boucher Neuhäuser syndrome

Bowen-Conradi syndrome

Brachydactyly syndrome type B1

Brachydactyly, short stature, retinitis pigmentosa syndrome

Brachyolmia - Maroteaux type

Braddock syndrome

Bradyopsia

Brain calcification Rajab type

Brain dopamine-serotonin vesicular transport disease

Branchial dysplasia, intellectual disability, inguinal hernia syndrome

Brittle cornea syndrome

Brody myopathy

Brown-Vialetto-Van Laere syndrome

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation

CAMOS syndrome

Campomelia Cumming type

Camptodactyly syndrome Guadalajara type 1

Camptodactyly syndrome Guadalajara type 2

Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome

Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome

Carbamoyl-phosphate synthetase 1 deficiency

Carbohydrate deficient glycoprotein syndrome type 1m

Carbohydrate deficient glycoprotein syndrome type 1o

Carbohydrate deficient glycoprotein syndrome type 2a

Carbohydrate deficient glycoprotein syndrome type 2d

Carbohydrate deficient glycoprotein syndrome type 2k

Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency

Cardiomyopathy with cataract and hip spine disease syndrome

Carnosinase deficiency disorder

Caroli syndrome

Cataract, congenital heart disease, neural tube defect syndrome

Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome

Catel Manzke syndrome

CCDC115 congenital disorder of glycosylation

CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome

Cenani Lenz syndrome

Central nervous system calcification, deafness, tubular acidosis, anemia syndrome

Cerebellar ataxia and ectodermal dysplasia

Cerebellar ataxia Cayman type

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Cerebellar ataxia with oculomotor apraxia type 4

Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

Cerebellar-facial-dental syndrome

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Cerebral folate transport deficiency

Cerebral ventriculomegaly, cystic kidney disease

Cerebro-facio-thoracic dysplasia

Cerebrofacioarticular syndrome

Cerebroretinal microangiopathy with calcifications and cysts

Cervical hypertrichosis and peripheral neuropathy syndrome

Charcot-Marie-Tooth disease type 412

Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome

Cherubism with gingival fibromatosis

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood hypophosphatasia

Childhood myocerebrohepatopathy spectrum

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Childhood-onset basal ganglia degeneration syndrome

Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome

Childhood-onset spasticity with hyperglycinemia

Chitty Hall Baraitser syndrome

Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome

Cholestanol storage disease

Cholestasis-edema syndrome, Norwegian type

Chondrodysplasia punctata Toriello type

Chondrodysplasia with disorder of sex development syndrome

Chondrodysplasia with joint dislocations gPAPP type

Chorea acanthocytosis syndrome

Chronic atrial and intestinal dysrhythmia

Chronic enteropathy associated with SLCO2A1 gene

Chudley McCullough syndrome

Chuvash erythrocytosis

Chylomicron retention disease

CIDEC-related familial partial lipodystrophy

Citrullinemia4

Classical pantothenate kinase associated neurodegeneration

Classical-like Ehlers-Danlos syndrome type 1

Classical-like Ehlers-Danlos syndrome type 2

CLCN2-related leukoencephalopathy

Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome

Cleft palate with stapes fixation and oligodontia syndrome

Cloverleaf skull with multiple congenital anomalies syndrome

CNTNAP2-related developmental and epileptic encephalopathy

Cobblestone lissencephaly without muscular or ocular involvement

CODAS syndrome

Coenzyme A synthase protein associated neurodegeneration

Coenzyme Q10 deficiency3

COG1 congenital disorder of glycosylation

COG2-related congenital disorder of glycosylation

COG4 congenital disorder of glycosylation

COG5 congenital disorder of glycosylation

COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation

COG7 congenital disorder of glycosylation

COG8 congenital disorder of glycosylation

Cohen syndrome

Cold-induced sweating syndrome1

Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome

Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome

Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria

Combined deficiency of factor V and factor VIII

Combined immunodeficiency due to CARD11 deficiency

Combined immunodeficiency due to CARMIL2 deficiency

Combined immunodeficiency due to CD70 deficiency

Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction

Combined immunodeficiency due to DOCK8 deficiency

Combined immunodeficiency due to FCHO1 deficiency

Combined immunodeficiency due to GINS1 deficiency

Combined immunodeficiency due to interleukin 21 receptor deficiency

Combined immunodeficiency due to ITK deficiency

Combined immunodeficiency due to LRBA deficiency

Combined immunodeficiency due to MALT1 deficiency

Combined immunodeficiency due to OX40 deficiency

Combined immunodeficiency due to STK4 deficiency

Combined immunodeficiency due to TFRC deficiency

Combined immunodeficiency with faciooculoskeletal anomalies syndrome

Combined immunodeficiency, enteropathy spectrum

Combined oxidative phosphorylation defect type 11

Combined oxidative phosphorylation defect type 13

Combined oxidative phosphorylation defect type 14

Combined oxidative phosphorylation defect type 15

Combined oxidative phosphorylation defect type 17

Combined oxidative phosphorylation defect type 2

Combined oxidative phosphorylation defect type 21

Combined oxidative phosphorylation defect type 23

Combined oxidative phosphorylation defect type 24

Combined oxidative phosphorylation defect type 25

Combined oxidative phosphorylation defect type 26

Combined oxidative phosphorylation defect type 27

Combined oxidative phosphorylation defect type 28

Combined oxidative phosphorylation defect type 29

Combined oxidative phosphorylation defect type 30

Combined oxidative phosphorylation defect type 39

Combined oxidative phosphorylation defect type 4

Combined oxidative phosphorylation defect type 5

Combined oxidative phosphorylation defect type 7

Combined oxidative phosphorylation defect type 8

Combined oxidative phosphorylation defect type 9

Combined oxidative phosphorylation deficiency type 20

Complement component 3 deficiency

Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome

Complex lethal osteochondrodysplasia

Conductive deafness, ptosis, skeletal anomalies syndrome

Cone dystrophy with supernormal rod response

Congenital adrenal hyperplasia13

Congenital alpha-2-antiplasmin deficiency

Congenital amegakaryocytic thrombocytopenia

Congenital analbuminemia

Congenital autosomal recessive small-platelet thrombocytopenia

Congenital axonal neuropathy with encephalopathy

Congenital bile acid synthesis defect type 3

Congenital cataract microcornea with corneal opacity

Congenital cataract with ataxia and deafness syndrome

Congenital cataract with deafness and hypogonadism syndrome

Congenital cataract with hypertrichosis and intellectual disability syndrome

Congenital cataract, hearing loss, severe developmental delay syndrome

Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome

Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome

Congenital cataracts, facial dysmorphism and neuropathy

Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency

Congenital cerebellar ataxia due to RNU12 mutation

Congenital chronic diarrhea with protein-losing enteropathy

Congenital deafness with labyrinthine aplasia, microtia and microdontia

Congenital deficiency of alpha-fetoprotein

Congenital disorder of glycosylation type 1c

Congenital disorder of glycosylation type 1e

Congenital disorder of glycosylation type 1f

Congenital disorder of glycosylation type 1i

Congenital disorder of glycosylation type 1j

Congenital disorder of glycosylation type 1n

Congenital disorder of glycosylation type 1p

Congenital disorder of glycosylation type 1q

Congenital disorder of glycosylation type 1r

Congenital disorder of glycosylation type 1w

Congenital disorder of glycosylation type 1x

Congenital disorder of glycosylation type Ia

Congenital dyserythropoietic anemia, type I

Congenital dyserythropoietic anemia, type II

Congenital fiber-type disproportion myopathy due to ZAK mutation

Congenital hereditary endothelial dystrophy and perceptive deafness syndrome

Congenital hereditary endothelial dystrophy type 2

Congenital hereditary facial paralysis with variable hearing loss syndrome

Congenital hypoplasia of ulna and intellectual disability syndrome

Congenital insensitivity to pain with severe intellectual disability

Congenital insensitivity to pain, anosmia, neuropathic arthropathy

Congenital intrauterine infection-like syndrome

Congenital isolated adrenocorticotropic hormone deficiency

Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome

Congenital lactase deficiency

Congenital leptin deficiency

Congenital lethal erythroderma

Congenital lethal myopathy Compton North type

Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome

Congenital muscular dystrophy Paradas type

Congenital muscular dystrophy type 1A

Congenital muscular dystrophy type 1B

Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation

Congenital muscular dystrophy type 1D large gene mutation

Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy with intellectual disability and severe epilepsy

Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome

Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation

Congenital myopathy with myasthenic-like onset

Congenital myopathy with reduced type 2 muscle fibers

Congenital myotonia, autosomal recessive form

Congenital nephrotic syndrome2

Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome

Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency

Congenital neutropenia, myelofibrosis, nephromegaly syndrome

Congenital plasminogen activator inhibitor deficiency type 1

Congenital pontocerebellar hypoplasia type 1

Congenital pontocerebellar hypoplasia type 10

Congenital pontocerebellar hypoplasia type 11

Congenital pontocerebellar hypoplasia type 12

Congenital pontocerebellar hypoplasia type 13

Congenital pontocerebellar hypoplasia type 14

Congenital pontocerebellar hypoplasia type 2

Congenital pontocerebellar hypoplasia type 3

Congenital pontocerebellar hypoplasia type 4

Congenital pontocerebellar hypoplasia type 5

Congenital pontocerebellar hypoplasia type 6

Congenital pontocerebellar hypoplasia type 7

Congenital pontocerebellar hypoplasia type 8

Congenital pontocerebellar hypoplasia type 9

Congenital secretory diarrhea, chloride type

Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome

Congenital transferrin deficiency1

Congenital vertebral, cardiac, renal anomalies syndrome

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Cono-spondylar dysplasia

Constitutional mismatch repair deficiency syndrome2

Cooper Jabs syndrome

Corneal cerebellar syndrome

Cortical blindness, intellectual disability, polydactyly syndrome

Craniodiaphyseal dysplasia

Craniofacial dysplasia osteopenia syndrome

Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome

Craniofacial dyssynostosis syndrome

Craniofacial ulnar renal syndrome

Craniolenticulosutural dysplasia

Craniometadiaphyseal dysplasia wormian bone type

Craniomicromelic syndrome

Cranioosteoarthropathy

Craniosynostosis and dental anomalies syndrome

Craniosynostosis and intracranial calcification syndrome

Craniosynostosis fibular aplasia syndrome

Craniosynostosis, anal anomaly, porokeratosis syndrome

Crigler-Najjar syndrome, type I

Crome syndrome

Cryptophthalmos syndrome

Curry-Hall syndrome

Cutaneous photosensitivity and lethal colitis syndrome

Cutis laxa, autosomal recessive5

Cystathionine beta-synthase deficiency

Cystathioninuria

Cystic fibrosis13

Cystic leukoencephalopathy without megalencephaly

Cystinosis3

Cystinuria, type 13

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

Dandy-Walker malformation with postaxial polydactyly syndrome

Deaf blind hypopigmentation syndrome Yemenite type

Deafness and myopia syndrome

Deafness and oligodontia syndrome

Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

Deafness, small bowel diverticulosis, neuropathy syndrome

Deafness, vitiligo, achalasia syndrome

Defect of purinergic receptor p2y G protein-coupled 12

Deficiency of alpha-ketoglutarate dehydrogenase

Deficiency of aminoacylase 1

Deficiency of AMP pyrophorylase3

Deficiency of dimethylglycine dehydrogenase

Deficiency of galactokinase

Deficiency of galactose mutarotase

Deficiency of glucosyltransferase 1

Deficiency of histidine ammonia-lyase

Deficiency of interleukin 36 receptor antagonist

Deficiency of leukotriene C4 synthase

Deficiency of methylmalonyl-CoA mutase2

Deficiency of phosphomannomutase 2

Deficiency of Xaa-Pro dipeptidase

Delta-4-3-oxosteroid-5-beta-reductase deficiency

Dense deposit disease2

Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

Dermatoleukodystrophy

Dermatoosteolysis Kirghizian type

Dermatosparaxis Ehlers-Danlos syndrome

Desbuquois syndrome

Desmosterolosis

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay with autism spectrum disorder and gait instability

Diaphanospondylodysostosis

Diaphragmatic defect, limb deficiency, skull defect syndrome

Diastrophic dysplasia

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Dibasic amino aciduria type 1

Dicarboxylic aminoaciduria syndrome

Diencephalic mesencephalic junction dysplasia

Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome

Diffuse mesangial sclerosis with ocular abnormalities

Digital extensor muscle aplasia with polyneuropathy

Dihydropyrimidine dehydrogenase deficiency

Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome

Distal anoctaminopathy

Distal arthrogryposis type 5D

Distal limb deficiency with micrognathia syndrome

Distal muscular dystrophy, Miyoshi type

Distal myopathy with anterior tibial onset

DK phocomelia syndrome

DOCK2 deficiency

Donnai-Barrow syndrome

DONSON-related microcephaly, short stature, limb abnormalities spectrum

DOORS syndrome

Dopamine transporter deficiency syndrome

Double heterozygous familial hypercholesterolemia

Dubin-Johnson syndrome

Duplication of eyebrow and syndactyly syndrome

Dyggve-Melchior-Clausen syndrome

Dysequilibrium syndrome

Dysmorphism, short stature, deafness, disorder of sex development syndrome

Dyssegmental dysplasia Silverman Handmaker type

Dystonia 16

Ear, patella, short stature syndrome

Early onset myopathy with fatal cardiomyopathy

Early-onset calcifying leukoencephalopathy, skeletal dysplasia

Early-onset epilepsy, intellectual disability, brain anomalies syndrome

Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome

Early-onset Lafora body disease

Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome

Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome

Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome

Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome

Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome

Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome

Ectodermal dysplasia and sensorineural deafness syndrome

Ectodermal dysplasia syndactyly syndrome

Ectodermal dysplasia with blindness syndrome

Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome

Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome

Ectopia lentis, chorioretinal dystrophy, myopia syndrome

Ectrodactyly polydactyly syndrome

EGF-related primary hypomagnesemia with intellectual disability

Ehlers-Danlos syndrome cardiac valvular type

Ehlers-Danlos syndrome kyphoscoliotic type2

Ehlers-Danlos syndrome musculocontractural type

Ehlers-Danlos syndrome progeroid type

Ehlers-Danlos syndrome spondylocheirodysplastic type

Eiken syndrome

Enamel-renal syndrome

Encephalopathy due to prosaposin deficiency

Encephalopathy due to sulfite oxidase deficiency

Encephalopathy, intracerebral calcification, retinal degeneration syndrome

Endocrine-cerebro-osteodysplasia syndrome

Endosteal hyperostoses with cerebellar hypoplasia

Eosinophil peroxidase deficiency

Epidermodysplasia verruciformis

Epilepsy telangiectasia syndrome

Epilepsy, microcephaly, skeletal dysplasia syndrome

Epileptic encephalopathy with global cerebral demyelination

Epiphyseal dysplasia, microcephalus, nystagmus syndrome

Erythropoietic uroporphyria associated with myeloid malignancy

Essential benign fructosuria

Essential pentosuria

Ethanolaminosis

Ethylmalonic encephalopathy

EVEN-plus syndrome

Eye defects, arachnodactyly, cardiopathy syndrome

Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome

Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome

Faciocardiorenal syndrome

FADD-related immunodeficiency

Fallot complex with intellectual disability and growth delay syndrome

Familial acantholysis

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

Familial angiolipomatosis

Familial benign flecked retina

Familial C3B inhibitor deficiency syndrome

Familial chylomicronemia syndrome2

Familial congenital nasolacrimal duct obstruction

Familial erythrocytosis due to diphosphoglycerate mutase deficiency

Familial gastric type 1 neuroendocrine neoplasm

Familial glucocorticoid deficiency

Familial hemophagocytic lymphohistiocytosis

Familial hypercholanemia

Familial hypertryptophanemia

Familial hypoaldosteronism2

Familial hypokalemic alkalosis, Gullner type

Familial infantile myoclonic epilepsy

Familial isolated trichomegaly

Familial median cleft of upper and lower lip

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis2

Familial pulmonary capillary hemangiomatosis

Familial renal iminoglycinuria

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Fanconi anemia of complementation group C

FASTKD2-related infantile mitochondrial encephalomyopathy

Fatal infantile hypertonic myofibrillar myopathy

Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3

Fatal post-viral neurodegenerative disorder

Fatty acid hydroxylase associated neurodegeneration

Fatty acid oxidation defect9

Fatty acyl-CoA reductase 1 deficiency

FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome

Fetal encasement syndrome

Fever-associated acute infantile liver failure syndrome

Fibrosis, neurodegeneration, cerebral angiomatosis syndrome

Fibular aplasia and complex brachydactyly

Filippi syndrome

Fine Lubinsky syndrome

Fish-eye disease

Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome

Focal facial dermal dysplasia type IV

Fountain syndrome

Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome

Francois syndrome

Frank-Ter Haar syndrome

Friedreich ataxia1

Frontonasal dysplasia with alopecia and genital anomaly syndrome

Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome

Frontorhiny

Fructose-biphosphatase deficiency

Fryns syndrome

Fucosidosis3

Fuhrmann syndrome

Galactose epimerase deficiency2

Galactosylceramide beta-galactosidase deficiency2

Galactosylceramide lipidosis

Galloway Mowat syndrome

Gamma-glutamyl transpeptidase deficiency

GAPO syndrome

Gaucher's disease5

GCGR-related hyperglucagonemia

Gelatinous droplike corneal dystrophy

Gemignani syndrome

Generalized congenital lipodystrophy with myopathy

Genitopalatocardiac syndrome

German syndrome

Geroderma osteodysplastica

Ghosal hematodiaphyseal dysplasia

Giacci familial neurogenic acroosteolysis

Giant axonal neuropathy

Gingival fibromatosis with facial dysmorphism syndrome

Gitelman syndrome

Glucocorticoid deficiency with achalasia

Glucose-galactose malabsorption

Glutamate formiminotransferase deficiency

Glutamate-cysteine ligase deficiency

Glutaric aciduria, type 23

Glutaryl-CoA dehydrogenase deficiency

Glutaryl-CoA oxidase deficiency

Glutathione synthetase deficiency2

Glycine dehydrogenase (decarboxylating) deficiency

Glycogen storage disease due to acid maltase deficiency2

Glycogen storage disease due to aldolase A deficiency

Glycogen storage disease due to lactate dehydrogenase deficiency

Glycogen storage disease due to muscle beta-enolase deficiency

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

Glycogen storage disease, type I2

Glycogen storage disease, type VI

GM1 gangliosidosis3

GM3 synthase deficiency

GNB5-related intellectual disability, cardiac arrhythmia syndrome

Goldberg Shprintzen megacolon syndrome

Goldblatt Wallis syndrome

Goldmann-Favre syndrome

Gollop syndrome

Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance

Gorlin-Chaudhry-Moss syndrome

GRACILE syndrome

Grebe syndrome

Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay, intellectual disability, hepatopathy syndrome

Growth retardation, mild developmental delay, chronic hepatitis syndrome

Grubben, De Cock, Borghgraef syndrome

Haim Munk syndrome

Hair defect with photosensitivity and intellectual disability syndrome

Hall Riggs syndrome

Hallux varus, preaxial polysyndactyly syndrome

Heart defect and limb shortening syndrome

HELIX syndrome

Heme oxygenase-1 deficiency

Hemochromatosis type 11

Hemochromatosis type 3

Hemoglobin Bart's hydrops syndrome

Hemoglobin C beta thalassemia2

Hemoglobin E/beta thalassemia disease2

Hemolytic anemia due to adenylate kinase deficiency

Hennekam Beemer syndrome

Hennekam syndrome

Hepatic fibrosis, renal cyst, intellectual disability syndrome

Hepatic glycogen synthase deficiency

Hepatic lipase deficiency

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hereditary acrodermatitis enteropathica

Hereditary adrenal unresponsiveness to corticotropin

Hereditary arterial and articular multiple calcification syndrome

Hereditary butyrylcholinesterase deficiency

Hereditary combined deficiency of vitamin K-dependent clotting factors

Hereditary congenital prekallikrein deficiency

Hereditary dysautonomia with motor neuropathy

Hereditary factor X deficiency disease

Hereditary factor XI deficiency disease3

Hereditary factor XII deficiency disease

Hereditary fructosuria

Hereditary hypotrichosis with recurrent skin vesicles syndrome

Hereditary motor and sensory neuropathy with acrodystrophy

Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome

Hereditary pyropoikilocytosis

Hereditary sensory and autonomic neuropathy type 6

Hereditary sensory and autonomic neuropathy type 8

Hereditary sensory and autonomic neuropathy with deafness and global delay

Hereditary sensory autonomic neuropathy type IIA

Hereditary sensory autonomic neuropathy type IIB

Hereditary sensory autonomic neuropathy type IIC

Hereditary von Willebrand disease type 2N

Hereditary von Willebrand disease type 3

Hereditary xanthinuria2

Hidrotic ectodermal dysplasia Halal type

Hirschsprung disease with deafness and polydactyly syndrome

Hirschsprung disease with nail hypoplasia and dysmorphism

Histiocytosis-lymphadenopathy plus syndrome

HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency

HNSHA due to diphosphoglycerate mutase deficiency

HNSHA due to glucose phosphate isomerase deficiency

HNSHA due to glutathione reductase deficiency

HNSHA due to glutathione synthetase deficiency

HNSHA due to pyrimidine-5'-nucleotidase deficiency

Holoprosencephaly and postaxial polydactyly syndrome

Holzgreve syndrome

Homocystinuria without methylmalonic aciduria2

Homogentisate 1,2-dioxygenase deficiency

Horizontal gaze palsy with progressive scoliosis

Huntington disease-like 3

Hydrocephalus, tall stature, joint laxity syndrome

Hydrolethalus syndrome

Hyperammonemia, type III

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Hypergonadotropic hypogonadism with cataract syndrome

Hyperimmunoglobulinemia D with periodic fever

Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Hypermanganesemia with dystonia2

Hypermethioninemia due to deficiency of glycine N-methyltransferase

Hypermethioninemia encephalopathy due to deficiency of adenosine kinase

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hyperphenylalaninemia due to DNAJC12 deficiency

Hyperphosphatasemia with intellectual disability

Hyperprolinemia type 2

Hypertelorism with microtia and facial clefting syndrome

Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome

Hypervalinemia

Hypochromic microcytic anemia with iron overload

Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome

Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

Hypomagnesemia with secondary hypocalcemia

Hypomandibular faciocranial dysostosis

Hypomyelination and congenital cataract

Hypomyelination neuropathy arthrogryposis syndrome

Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Hypoplasia and coloboma of alar cartilage with telecanthus syndrome

Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome

Hypotonia, speech impairment, severe cognitive delay syndrome

Hypotrichosis and intellectual disability syndrome Lopes type

Hypotrichosis with juvenile macular degeneration syndrome

I-cell disease1

IL21-related infantile inflammatory bowel disease

Illum syndrome

Immotile cilia syndrome5

Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome

Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome

Immunodeficiency due to CD25 deficiency

Immunodeficiency with factor I anomaly

Inclusion body myopathy 2

Infantile cerebellar and retinal degeneration

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Infantile choroidocerebral calcification syndrome

Infantile glycine encephalopathy1

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Infantile hypophosphatasia

Infantile inflammatory bowel disease with neurological involvement

Infantile malignant osteopetrosis

Infantile multisystem neurologic, endocrine, pancreatic disease

Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome

Infantile onset spinocerebellar ataxia

Infantile osteopetrosis with neuroaxonal dysplasia syndrome

Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome

Infantile systemic hyalinosis

Infantile-onset autosomal recessive non progressive cerebellar ataxia

Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome

Infantile-onset generalized dyskinesia with orofacial involvement

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Intellectual disability Buenos Aires type

Intellectual disability with strabismus syndrome

Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome

Intellectual disability, early-onset cataract, microcephaly syndrome

Intellectual disability, epilepsy, bulbous nose syndrome

Intellectual disability, epilepsy, extrapyramidal syndrome

Intellectual disability, facial dysmorphism, hand anomalies syndrome

Intellectual disability, hyperkinetic movement, truncal ataxia syndrome

Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome

Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome

Intellectual disability, myopathy, short stature, endocrine defect syndrome

Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome

Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome

Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome

Interleukin-1 receptor-associated kinase 4 deficiency

Interstitial lung disease due to ABCA3 deficiency

Intestinal enteropeptidase deficiency

Intestinal epithelial dysplasia

Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency

Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome

Iodotyrosine deiodination defect

Iron-refractory iron deficiency anemia

Isobutyryl-CoA dehydrogenase deficiency disease

Isolated ATP synthase deficiency

Isolated follicle stimulating hormone deficiency

Isolated generalized anhidrosis with normal sweat glands

Isolated hyperchlorhidrosis

Isolated multiple intestinal atresia

Isolated neonatal sclerosing cholangitis

Isolated right ventricular hypoplasia

Isomerism of right atrial appendage

Isovaleryl-CoA dehydrogenase deficiency

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Jarcho-Levin syndrome

Jawad syndrome

Jervell and Lange-Nielsen syndrome

Jeune thoracic dystrophy1

Joubert syndrome6

Junctional epidermolysis bullosa5

Juvenile amyotrophic lateral sclerosis2

Juvenile hemochromatosis2

Juvenile hyaline fibromatosis

Juvenile primary lateral sclerosis

Kallman syndrome with heart disease

Kandori fleck retina syndrome

Kapur Toriello syndrome

Karyomegalic interstitial nephritis

Keutel syndrome

Kindler epidermolysis bullosa

KLHL7-related Bohring Opitz-like syndrome

Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome

Kostmann syndrome

Kufor Rakeb syndrome

Kuskokwim syndrome

Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

LAMB2-related infantile-onset nephrotic syndrome

Laron syndrome with immunodeficiency

Laron-type isolated somatotropin defect2

Larsen-like syndrome B3GAT3 type

Lathosterolosis

Laurence-Moon syndrome

Lelis syndrome

Leprechaunism syndrome

Lethal arteriopathy syndrome due to fibulin-4 deficiency

Lethal arthrogryposis with anterior horn cell disease

Lethal brain and heart developmental defects syndrome

Lethal congenital contracture syndrome type 1

Lethal congenital contracture syndrome type 2

Lethal congenital contracture syndrome type 3

Lethal congenital contracture syndrome type 5

Lethal faciocardiomelic dysplasia

Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Lethal Kniest-like syndrome

Lethal Larsen-like syndrome

Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome

Lethal multiple pterygium syndrome

Lethal neonatal spasticity, epileptic encephalopathy syndrome

Lethal occipital encephalocele, skeletal dysplasia syndrome

Lethal omphalocele with cleft palate syndrome

Lethal polymalformative syndrome Boissel type

Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome

Lethal recessive chondrodysplasia

Leukocyte adhesion deficiency3

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

Leukoencephalopathy with calcifications and cysts

Leukoencephalopathy, dystonia, motor neuropathy syndrome

Leukoencephalopathy, palmoplantar keratoderma syndrome

Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome

Leydig cell agenesis2

Lichtenstein syndrome

LIPE-related familial partial lipodystrophy

Lipid proteinosis

Lipodystrophy, intellectual disability, deafness syndrome

Lipoic acid synthetase deficiency

Lipoprotein glomerulopathy

Lipoyl transferase 1 deficiency

Lissencephaly syndrome Norman Roberts type

Lissencephaly type 3 familial fetal akinesia sequence syndrome

Lissencephaly type 3 metacarpal bone dysplasia syndrome

Lucey-Driscoll syndrome

Lung agenesis with heart defect and thumb anomaly syndrome

Lung disease, immunodeficiency, chromosome breakage syndrome

Lymphedema, atrial septal defect, facial changes syndrome

Lymphedema, posterior choanal atresia syndrome

Lysinuric protein intolerance

Lysosomal acid lipase deficiency2

MacDermot Winter syndrome

Macrocephaly and developmental delay syndrome

Macrosomia, microphthalmia, cleft palate syndrome

Macular coloboma, cleft palate, hallux valgus syndrome

Macular corneal dystrophy5

Majeed syndrome

Major histocompatibility complex class I deficiency4

Major histocompatibility complex class II deficiency4

Mal de Meleda

Malignant hyperthermia with arthrogryposis and torticollis syndrome

Malonic aciduria

Mandibuloacral dysostosis2

Mandibuloacral dysplasia associated to MTX2

Manitoba oculotrichoanal syndrome

Mannosephosphate isomerase congenital disorder of glycosylation

Mannosidosis2

Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation

Maple syrup urine disease7

MARCH syndrome

Marden Walker syndrome

Marfanoid habitus with autosomal recessive intellectual disability syndrome

Marinesco-Sjögren syndrome

Maroteaux-Lamy syndrome3

Maternal phenylketonuria

McKusick Kaufman syndrome

Megaconial congenital muscular dystrophy

Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephaly, severe kyphoscoliosis, overgrowth syndrome

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

Megalocornea, spherophakia, secondary glaucoma syndrome

Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency

Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency

Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency

Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency

Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency

MEPAN syndrome

Mesoaxial synostotic syndactyly with phalangeal reduction syndrome

Metachromatic leukodystrophy10

Metaphyseal chondrodysplasia, McKusick type

Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

Methylcrotonyl-CoA carboxylase deficiency

Methylene THF reductase deficiency AND homocystinuria

Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency

Methylmalonic aciduria due to transcobalamin receptor defect

Mevalonic aciduria

Microbrachycephaly, ptosis, cleft lip syndrome

Microcephalic cortical malformations, short stature due to RTTN deficiency

Microcephalic osteodysplastic dysplasia Saul Wilson type

Microcephalic osteodysplastic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism types I and III

Microcephalic primordial dwarfism Alazami type

Microcephalic primordial dwarfism Dauber type

Microcephalic primordial dwarfism due to ZNF335 deficiency

Microcephalic primordial dwarfism Toriello type

Microcephalic primordial dwarfism, insulin resistance syndrome

Microcephalus cardiomyopathy syndrome

Microcephalus with brachydactyly and kyphoscoliosis syndrome

Microcephalus with cardiac defect and lung malsegmentation syndrome

Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome

Microcephalus, complex motor and sensory axonal neuropathy syndrome

Microcephalus, glomerulonephritis, marfanoid habitus syndrome

Microcephalus, hypergonadotropic hypogonadism, short stature syndrome

Microcephaly with cervical spine fusion anomaly

Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome

Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome

Microcephaly, polymicrogyria, corpus callosum agenesis syndrome

Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome

Microcephaly, thin corpus callosum, intellectual disability syndrome

Microcephaly-capillary malformation syndrome

Microcornea, myopic chorioretinal atrophy, telecanthus syndrome

Microlissencephaly micromelia syndrome

Microphthalmia with brain atrophy syndrome

Mitochondrial complex I deficiency nuclear type 10

Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form1

Mitochondrial DNA depletion syndrome encephalomyopathic form5

Mitochondrial DNA depletion syndrome hepatocerebrorenal form

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Mitochondrial membrane protein associated neurodegeneration

Mitochondrial myopathy with sideroblastic anemia syndrome

Mitochondrial neurogastrointestinal encephalomyopathy syndrome

Mitochondrial phosphate carrier deficiency

Mitochondrial pyruvate carrier deficiency

Moderate steroid 21-hydroxylase deficiency

Moyamoya disease with early onset achalasia

MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome

Mucolipidosis type IV

Mucopolysaccharidosis, MPS-I3

Mucopolysaccharidosis, MPS-VII

Mucopolysaccharidosis-like plus disease

Multicentric osteolysis nodulosis arthropathy spectrum

Multiple carboxylase deficiency2

Multiple congenital anomalies, hypotonia, seizures syndrome

Multiple epiphyseal dysplasia Al-Gazali type

Multiple epiphyseal dysplasia type 4

Multiple epiphyseal dysplasia type 7

Multiple mitochondrial dysfunctions syndrome6

Multiple sulfatase deficiency

Muscle AMP deaminase deficiency

Muscle and heart glycogen synthase deficiency

Muscle eye brain disease with bilateral multicystic leukodystrophy

Muscle phosphoglycerate mutase deficiency

Muscle-eye-brain disease, congenital muscular dystrophy

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

Myoclonic epilepsy myopathy sensory ataxia

Myopathy with deficiency of iron-sulfur cluster assembly enzyme

Myosclerosis

NAD(P)HX dehydratase deficiency

NAD(P)HX epimerase deficiency

Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome

Nakajo-Nishimura syndrome

Nathalie syndrome

Native American myopathy

Navajo neurohepatopathy

NDE1-related microhydranencephaly

NEK9-related lethal skeletal dysplasia

Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome

Neonatal epileptic encephalopathy due to glutaminase deficiency

Neonatal inflammatory skin and bowel disease

Neonatal pseudo-hydrocephalic progeroid syndrome

Nephronophthisis9

Nephropathy, deafness, hyperparathyroidism syndrome

Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome

Nestor Guillermo progeria syndrome

Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency

Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome

Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome

Neuroectodermal melanolysosomal disease

Neurofaciodigitorenal syndrome

Neurogenic arthrogryposis multiplex congenita1

Neuronal ceroid lipofuscinosis type 1

Neuronal ceroid lipofuscinosis type 101

Neuronal ceroid lipofuscinosis type 11

Neuronal ceroid lipofuscinosis type 13

Neuronal ceroid lipofuscinosis type 2

Neuronal ceroid lipofuscinosis type 3

Neuronal ceroid lipofuscinosis type 61

Neuronal ceroid lipofuscinosis type 7

Neuronal ceroid lipofuscinosis type 81

Neutral lipid storage disease with myopathy

NGLY1-congenital disorder of deglycosylation

NKX6-2-related autosomal recessive hypomyelinating leukodystrophy

Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome

Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome

Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy

NPHP3-related Meckel-like syndrome

NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance

Obesity due to CEP19 deficiency

Obesity due to leptin receptor gene deficiency

Obesity due to prohormone convertase I deficiency

Obesity due to SIM1 deficiency

Occipital pachygyria and polymicrogyria

Ocular motor apraxia Cogan type

Oculoauricular syndrome Schorderet type

Oculocerebral hypopigmentation syndrome of Preus type

Oculocerebrodental syndrome

Oculocerebrofacial syndrome Kaufman type

Oculocutaneous albinism12

Oculogastrointestinal muscular dystrophy

Oculoosteocutaneous syndrome

Oculopalatocerebral syndrome

Odontohypophosphatasia

Odontotrichomelic syndrome

Oguchi's disease

Oligohydramnios sequence

Oliver McFarlane syndrome

Oliver syndrome

Ophthalmo-acromelic syndrome

Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

Oro-facial digital syndrome type 14

Oro-facial digital syndrome type 5

Oro-facial digital syndrome type 9

Orofacial-digital syndrome III

Orofacial-digital syndrome IV

Orotic aciduria2

Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

Osteopenia, intellectual disability, sparse hair syndrome

Osteopetrosis hypogammaglobulinemia syndrome

Osteoporosis and oculocutaneous hypopigmentation syndrome

Osteosclerotic metaphyseal dysplasia

Oto-onycho-peroneal syndrome

Otospondylomegaepiphyseal dysplasia

OTULIN-related autoinflammatory syndrome

P5PD developmental and epileptic encephalopathy

Pachydermoperiostosis syndrome

Pachygyria, intellectual disability, epilepsy syndrome

Pacman dysplasia

PAICS deficiency disorder

Palmoplantar keratoderma Nagashima type

Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome

Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome

Pancreatic triacylglycerol lipase deficiency

Pancytopenia with developmental delay syndrome

Papillon-Lefèvre syndrome

Papuloverrucous palmoplantar keratoderma of Jakac-Wolf

Parana hard skin syndrome

Parkinsonian pyramidal syndrome

Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome

Partial pancreatic agenesis

PCNA-related progressive neurodegenerative photosensitivity syndrome

Pelizaeus Merzbacher like disease4

Pelviscapular dysplasia

Pena-Shokeir syndrome type I

Pendred's syndrome

Periodic fever, immunodeficiency, thrombocytopenia syndrome

Perlman syndrome

Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome

Peroxisome biogenesis disorder16

Persistent Müllerian duct syndrome

Peters plus syndrome

PGM1-related congenital disorder of glycosylation

PGM3-related congenital disorder of glycosylation

PHAVER syndrome

Phenylketonuria1

Pierson syndrome

Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome

Pili torti onychodysplasia syndrome

Pilodental dysplasia, refractive errors syndrome

PLAA-associated neurodevelopmental disorder

PLACK syndrome

Poikiloderma with neutropenia

Polycystic kidney disease, infantile type

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Polyendocrine polyneuropathy syndrome

Polyglandular autoimmune syndrome, type 1

Polyglucosan body myopathy type 1

Polyglucosan body myopathy type 2

Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome

Polymicrogyria with optic nerve hypoplasia

Polysyndactyly and cardiac malformation syndrome

Porencephaly, microcephaly, bilateral congenital cataract syndrome

Porphobilinogen synthase deficiency

Postaxial polydactyly, dental, vertebral anomalies syndrome

Preaxial polydactyly, colobomata, intellectual disability syndrome

Predisposition to invasive fungal disease due to CARD9 deficiency

Predisposition to severe viral infection due to IRF7 deficiency

Prenatal-onset spinal muscular atrophy with congenital bone fractures

Primary CD59 deficiency

Primary dystonia DYT27 type

Primary hypergonadotropic hypogonadism and partial alopecia syndrome

Primary hyperoxaluria3

Primary immunodeficiency syndrome due to p14 deficiency

Primary immunodeficiency with multifaceted aberrant lymphoid immunity

Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Primary intraosseous venous malformation

Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome

Primary triglyceride deposit cardiomyovasculopathy

Progeroid features, hepatocellular carcinoma predisposition syndrome

Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome

Progressive cavitating leukoencephalopathy

Progressive cerebellar ataxia with hypogonadism

Progressive cerebello-cerebral atrophy

Progressive deafness with stapes fixation

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome

Progressive external ophthalmoplegia, myopathy, emaciation syndrome

Progressive intrahepatic cholestasis5

Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome1

Progressive myoclonic epilepsy type 3

Progressive myoclonic epilepsy type 6

Progressive myoclonic epilepsy type 8

Progressive myoclonic epilepsy type 9

Progressive myoclonic epilepsy with dystonia

Progressive myoclonus epilepsy with ataxia

Progressive polyneuropathy with bilateral striatal necrosis

Progressive retinal dystrophy due to retinol transport defect

Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome

Proline dehydrogenase deficiency

Propionic acidemia4

Proximal myopathy with extrapyramidal signs

PRUNE1-related neurological syndrome

Pseudodiastrophic dysplasia

Pseudohypoaldosteronism, type 1, recessive form

Pseudoprogeria syndrome

Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome

Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome

Puerto Rican infant hypotonia syndrome

Purine-nucleoside phosphorylase deficiency

PYCR2-related microcephaly, progressive leukoencephalopathy

Pyknoachondrogenesis

Pyknodysostosis

Pyle metaphyseal dysplasia

Pyogenic bacterial infection due to MyD88 deficiency

Pyridoxine-dependent developmental and epileptic encephalopathy1

Pyruvate carboxylase deficiency

QRSL1-related combined oxidative phosphorylation defect

RAB18 deficiency2

Raine dysplasia

Rambaud Gallian syndrome

RAPADILINO syndrome

RARS-related autosomal recessive hypomyelinating leukodystrophy

Reardon Hall Slaney syndrome

Recessive aplasia cutis congenita of limbs

Recessive dystrophic epidermolysis bullosa6

Recessive mitochondrial ataxia syndrome

Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome

Recurrent Neisseria infection due to factor D deficiency

Regressive spondylometaphyseal dysplasia

Renal hepatic pancreatic dysplasia

Renal tubular acidosis with progressive nerve deafness

Renal tubulopathy with encephalopathy and liver failure syndrome

Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta1

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

Retinal degeneration, nanophthalmos, glaucoma syndrome

Retinal detachment and occipital encephalocele

Retinitis punctata albescens

Retinohepatoendocrinologic syndrome

Rhizomelic syndrome Urbach type

Richards-Rundle syndrome

Richieri Costa-da Silva syndrome

RIDDLE syndrome

RNA polymerase III-related leukodystrophy

Roberts-SC phocomelia syndrome

Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome

Rolland-Debuqois syndrome

Rothmund Thomson syndrome type 1

Rothmund Thomson syndrome type 2

Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome

Saito Kuba Tsuruta syndrome

Saldino-Mainzer dysplasia

Sanfilippo syndrome4

Sanjad Sakati syndrome

Sarcosine dehydrogenase deficiency

Schimke immuno-osseous dysplasia

Schinzel phocomelia syndrome

Schwartz-Jampel syndrome

Seckel syndrome

Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

Seizures and intellectual disability due to hydroxylysinuria

Seizures, scoliosis, macrocephaly syndrome

Selective malabsorption of cyanocobalamin

Sensorineural deafness and male infertility

Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome

SERKAL syndrome

Severe autosomal recessive macrothrombocytopenia

Severe childhood autosomal recessive muscular dystrophy

Severe dermatitis, multiple allergies, metabolic wasting syndrome

Severe early childhood onset retinal dystrophy

Severe early-onset axonal neuropathy due to mitofusin 2 deficiency

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome

Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome

Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome

Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome

Severe myopia, generalized joint laxity, short stature syndrome

Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

Severe neurodegenerative syndrome with lipodystrophy

Severe oculo-renal-cerebellar syndrome

Severe primary trimethylaminuria

Severe steroid 21-hydroxylase deficiency

Short rib polydactyly syndrome5

Short stature due to primary acid labile subunit deficiency

Short stature with delayed bone age due to thyroid hormone metabolism deficiency

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome

Short stature, brachydactyly, obesity, global developmental delay syndrome

Short stature, developmental delay, congenital heart defect syndrome

Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome

Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome

Short ulna, dysmorphism, hypotonia, intellectual disability syndrome

Sialidosis2

Siegler Brewer Carey syndrome

Sinoatrial node dysfunction and deafness

Sitosterolemia with xanthomatosis

Skeletal dysplasia with epilepsy and short stature syndrome

SLC39A8 congenital disorder of glycosylation

Smith McCort dysplasia

Sonoda syndrome

Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

Spectrin-associated autosomal recessive cerebellar ataxia

Sphingomyelin/cholesterol lipidosis5

Spinal muscular atrophy with progressive myoclonic epilepsy

Spinocerebellar ataxia dysmorphism syndrome

Spinocerebellar ataxia with axonal neuropathy type 1

Split hand, split foot malformation with sensorineural hearing loss syndrome

Split-foot malformation, mesoaxial polydactyly syndrome

Spondylo-megaepiphyseal-metaphyseal dysplasia

Spondylo-ocular syndrome

Spondylocarpotarsal synostosis syndrome

Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome

Spondyloenchondrodysplasia1

Spondyloenchondromatosis1

Spondyloepimetaphyseal dysplasia aggrecan type

Spondyloepimetaphyseal dysplasia anauxetic type

Spondyloepimetaphyseal dysplasia Genevieve type

Spondyloepimetaphyseal dysplasia Irapa type

Spondyloepimetaphyseal dysplasia matrilin-3 type

Spondyloepimetaphyseal dysplasia PAPSS2 type

Spondyloepimetaphyseal dysplasia Shohat type

Spondyloepimetaphyseal dysplasia with joint laxity Beighton type

Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type

Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome

Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome

Spondyloepiphyseal dysplasia tarda Kohn type

Spondyloepiphyseal dysplasia with congenital joint dislocations1

Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome

Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome

Spondylometaphyseal dysplasia A4 type

Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome

Spondylometaphyseal dysplasia, corneal dystrophy syndrome

Spongy degeneration of central nervous system

SSADH (succinic semialdehyde dehydrogenase) deficiency

Steel syndrome

Sterile multifocal osteomyelitis with periostitis and pustulosis

Steroid dehydrogenase deficiency and dental anomaly syndrome

Stickler syndrome type 4

Stimmler syndrome

Stromme syndrome

Subaortic stenosis and short stature syndrome

Sucrase-isomaltase deficiency

Sudden infant death with dysgenesis of testes syndrome

Sugarman brachydactyly

Sulfite oxidase deficiency syndrome

Susceptibility to infection due to TYK2 deficiency

Susceptibility to localized juvenile periodontitis

Susceptibility to respiratory infection associated with CD8alpha chain mutation

Susceptibility to viral and mycobacterial infection

Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome

Syndrome of apparent mineralocorticoid excess

Syndromic congenital sodium diarrhea

Syndromic multisystem autoimmune disease due to ITCH deficiency

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

T-cell immunodeficiency with epidermodysplasia verruciformis

T-cell receptor alpha-beta-positive T-cell deficiency

Tall stature, intellectual disability, renal anomalies syndrome

Talo-patello-scaphoid osteolysis syndrome

Tangier disease

Taurodontia with absent teeth and sparse hair syndrome

Tay-Sachs disease3

TBCK-related intellectual disability syndrome

Teebi Shaltout syndrome

Tel Hashomer camptodactyly syndrome

TELO2-related intellectual disability, neurodevelopmental disorder

Temtamy preaxial brachydactyly syndrome

Temtamy syndrome

Tetra-amelia syndrome

Tetrahydrobiopterin synthesis defect4

Thakker Donnai syndrome

Thiamine-responsive encephalopathy

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Thomas syndrome

Thoracic dysplasia and hydrocephalus syndrome

Thoracomelic dysplasia

Thymic, renal, anal, lung dysplasia syndrome

Thyrocerebrorenal syndrome

TMEM199 congenital disorder of glycosylation

TMEM70 related mitochondrial encephalo-cardio-myopathy

TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

Toriello Carey syndrome

Total intestinal aganglionosis

Transcobalamin II deficiency

Transient infantile hypertriglyceridemia and hepatosteatosis

Trichohepatoenteric syndrome

Trichoodontoonychial dysplasia

Trichothiodystrophy5

Tumoral calcinosis2

Tungland Bellman syndrome

Type 1 diabetes mellitus, central and peripheral neurodegeneration syndrome

Ulbright Hodes syndrome

Ultraviolet sensitive syndrome

Upper limb defect with eye and ear abnormalities syndrome

Upshaw-Schulman syndrome

Urban Rogers Meyer syndrome

Urocanate hydratase deficiency

USP18 deficiency

VACTERL syndrome with hydrocephalus

Van den Ende-Gupta syndrome

Vanishing white matter disease1

Vasculitis due to adenosine deaminase 2 deficiency

Verloes Bourguignon syndrome

Vici syndrome

Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome

VPS11-related autosomal recessive hypomyelinating leukodystrophy

Walker-Warburg congenital muscular dystrophy

WARS2-related combined oxidative phosphorylation defect

Warsaw breakage syndrome

Weaver Williams syndrome

Werdnig-Hoffmann disease

Werner syndrome

White forelock with malformations syndrome

Wilson's disease2

Wolfram syndrome2

Woodhouse Sakati syndrome

Wrinkly skin syndrome

Xeroderma pigmentosum10

XK aprosencephaly syndrome

XY type gonadal dysgenesis with associated anomalies syndrome

XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation

Zechi Ceide syndrome

Zellweger-like syndrome without peroxisomal anomaly

Zlotogora Ogur syndrome