| ontwikkelingsachterstand en epileptische encefalopathie gerelateerd aan contactinegeassocieerde proteïne 2 (aandoening) | | CNTNAP2-gerelateerde ontwikkelingsachterstand en epileptische encefalopathie | | CDFE-syndroom
ontwikkelingsachterstand en epileptische encefalopathie gerelateerd aan contactinegeassocieerde proteïne 2
| | CNTNAP2-related developmental and epileptic encephalopathy | | Cortical dysplasia, focal epilepsy syndrome
Contactin associated protein 2-related developmental and epileptic encephalopathy
| | A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive. |
| | Id | 1230376005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 163681 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.8 | | Rule | TRUE | | Advice | ALWAYS Q04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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