autosomaal recessief Dyggve-Melchior-Clausen-syndroom (aandoening)
autosomaal recessief Dyggve-Melchior-Clausen-syndroom
ziekte van Dyggve-Melchior-Clausen
syndroom van Dyggve-Melchior-Clausen
syndroom van Dyggve-Melchior-Clausen
Zeer zeldzaam syndroom met als kenmerken onder meer dwerggroei en een verstandelijke beperking; de ziekte wordt veroorzaakt door mutaties in het gen DYM (18q21.1).
Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen dysplasia
A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and intellectual disability of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for Dymeclin, a protein that interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown. Transmission is autosomal recessive.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map239
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q78.8
CorrelationSNOMED CT source code to target map code correlation not specified