X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome

Definition

X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.

Disease data

Classification

Malformation syndrome

ORPHA code

85319

OMIM code

ICD10 code

Q87.8

ICD11 code

*Soruce