Catalog

X-linked intellectual deficit, Najm type

No MMS code

Link to WHO Definition

X-linked intellectual deficit, Najm type – http://id.who.int/icd/entity/1426958919

X-linked intellectual deficit, Najm type, is a rare cerebellar dysgenesis syndrome characterised by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.