You are using an outdated browser. Please upgrade your browser to improve your experience.

syndromic X-linked intellectual disability Najm type

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of mental retardation alone or associated with nystagmus.
Mondo Term and Equivalent IDs
MONDO:0010417:  syndromic X-linked intellectual disability Najm type
GARD:0012669: 
MESH:C567466: 
Orphanet:163937: 
UMLS:C2677903: