X-linked intellectual disability, Najm type

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized 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.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 0

                      


(per page)
PMID (PMCID)