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Metadata
ID DOID:0060807
Name syndromic X-linked intellectual disability Najm type
Definition A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.
https://www.ncbi.nlm.nih.gov/pubmed/19165920, https://www.ncbi.nlm.nih.gov/pubmed/21954287
Xrefs

GARD:12669

ICD10CM:Q04.3

OMIM:300749

ORDO:163937

Synonyms

mental retardation and microcephaly with pontine and cerebellar hypoplasia [EXACT]

MICPCH [EXACT]

X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

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