Catalog

Pachygyria - epilepsy - intellectual deficit - dysmorphism

No MMS code

Link to WHO Definition

Pachygyria - epilepsy - intellectual deficit - dysmorphism – http://id.who.int/icd/entity/317741361

Pachygyria - epilepsy - intellectual deficit - dysmorphism syndrome is characterised by the association of pachygyria, epilepsy, intellectual deficit and facial dysmorphism.

Parents

LD20 Syndromes with central nervous system anomalies as a major feature
Syndromic conditions with disorders of intellectual development as a relevant clinical feature