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mental retardation, X-linked CASK-related (MRXCASK, includes MICPCH syndrome)
MICPCH syndrome is severe form
Pathology:
- congenital or postnatal microcephaly (MICPCH syndrome)
- disproportionate brainstem & cerebellar hypoplasia
Genetics:
- associated with defects in CASK
Clinical manifestations:
- variable
- severe phenotype consisting of severe intellectual deficit (MICPCH syndrome)
- milder phenotype consists of mental retardation alone or associated with nystagmus
Database Correlations
OMIM 300749
References
OMIM :accession 300749