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syndromic X-linked intellectual disability Najm type

^ http://purl.obolibrary.org/obo/MONDO_0010417

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. [ Orphanet:163937 ]

Term info

database cross reference
  • MESH:C567466 (MONDO:equivalentTo)
  • UMLS:C2677903 (Orphanet:163937)
  • OMIM:300749 (Orphanet:163937/e)
  • Orphanet:163937 (OMIM:300749)
  • DOID:0060807 (MONDO:equivalentTo)
  • GARD:0012669 (MONDO:equivalentTo)
Subsets

ordo_disease

A synonym that is historic and discouraged
mental retardation, X-linked, syndromic, Najm type [ OMIM:300749 ]

A synonym that is historic and discouraged
mental retardation and microcephaly with pontine and cerebellar hypoplasia [ DOID:0060807 ]

A synonym that is historic and discouraged
mental retardation and microcephaly with PONTINE and cerebellar hypoplasia [ OMIM:300749 MONDO:Lexical ]

abbreviation
MICPCH [ DOID:0060807 MONDO:Lexical Orphanet:163937 OMIM:300749 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588, https://github.com/monarch-initiative/mondo/issues/4521

definition

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_163937, http://linkedlifedata.com/resource/umls/id/C2677903, http://identifiers.org/mesh/C567466, https://omim.org/entry/300749, http://purl.obolibrary.org/obo/DOID_0060807

has exact synonym

intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant, mental retardation and microcephaly with pontine and cerebellar hypoplasia, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, syndromic X-linked intellectual disability Najm type, MICPCH, X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome

has related synonym

intellectual disability, X-linked, syndromic, Najm type, mental retardation and microcephaly with PONTINE and cerebellar hypoplasia, Micpch syndrome, X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia, intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia, mental retardation, X-linked, syndromic, Najm type, X-linked intellectual disability, Najm type, microcephaly with pontine and cerebellar hypoplasia

id

MONDO:0010417