syndromic X-linked intellectual disability Najm type

Term ID

DOID:0060807

Synonyms

• mental retardation and microcephaly with pontine and cerebellar hypoplasia
• MICPCH
• X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome

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. (2)

References

• GARD:12669
• ICD10CM:Q04.3
• OMIM:300749
• ORDO:163937

Ontology

Human Disease   ( DOID:0060807 )