Details of Disease

General Information of Disease (ID: DISP9PS7)

• Disease Name: Syndromic X-linked intellectual disability Najm type
• Synonyms: intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia; Micpch syndrome; mental retardation and microcephaly with PONTINE and cerebellar hypoplasia; intellectual disability, X-linked, syndromic, Najm type; mental retardation, X-linked, syndromic, Najm type; X-linked intellectual disability, Najm type; X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia; microcephaly with pontine and cerebellar hypoplasia; intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant; mental retardation and microcephaly with pontine and cerebellar hypoplasia; syndromic X-linked intellectual disability Najm type; MICPCH; X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; intellectual disability and microcephaly with pontine and cerebellar hypoplasia
• 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.
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DISOV08L: Central nervous system malformation
  DISP9PS7: Syndromic X-linked intellectual disability Najm type
• Disease Identifiers:
  MONDO ID: MONDO_0010417
  MESH ID: C567466
  UMLS CUI: C2677903
  OMIM ID: 300749
  MedGen ID: 437070
  Orphanet ID: 163937

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CASK	OT8EF7ZF	Definitive	X-linked	[1]

References

• [1] Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. J Med Genet. 2022 Apr;59(4):399-409. doi: 10.1136/jmedgenet-2020-107497. Epub 2021 Mar 5.