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X-linked intellectual disability, Najm type

Orpha number ORPHA163937
Synonym(s) MICPCH
X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia
Prevalence <1 / 1 000 000
Inheritance
  • X-linked dominant
Age of onset Neonatal/infancy
ICD-10
  • Q04.3
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.

Prevalence of this rare neurological syndrome is unknown. Up to 35 families have been reported to date.

Patients (mostly females) have been reported to have variable clinical manifestations including intellectual deficit, severe developmental delay, seizures, unsteady gait, sensorineural hearing loss and postnatal microcephaly (in most cases). Minor facial anomalies include: low or broad forehead, hypertelorism, long philtrum and micrognathia. Ocular findings are also variable and include congenital nystagmus, strabismus, cataracts, myopia or reduced visual acuity. Males appear to be more severely affected.

Point mutations and deletions in the CASK gene (Xp11.4) have been found in patients with this syndrome.

Magnetic resonance imaging (MRI) generally shows pontocerebellar hypoplasia/atrophy and simplified cortical gyri. Molecular genetic testing is needed to confirm diagnosis.

Transmission follows an X-linked dominant pattern.

Expert reviewer(s)

  • Dr Ginevra ZANNI

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Detailed information

Summary information
Clinical genetics review
  • EN (2013)
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