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GENATLAS PHENOTYPE
last update : 15/03/2010
Symbol MICPCH
Location Xp11.4
HGNC id 1497
Name microcephaly with pontine and cerebellar hypoplasia syndrome
Other name(s)
  • X-linked brain malformation syndrome
  • mental retardation and microcephaly with pontine and cerebellar hypoplasia
    • Corresponding gene CASK
    Main clinical features
  • mental retardation and microcephaly with pontine and cerebellar hypoplasia
  • congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation
  • congenital and marked postnatal microcephaly, severe mental retardation, and disproportionate pontine and cerebellar hypoplasia, sensoryneural hearing loss, nystagmus, optic nerve hypoplasia, and scoliosis
    • Genetic determination sex linked
    Related entries including Ohtahara syndrome (OS) with cerebellar hypoplasia and congenital anomalies at the most severe end (PMID: 22709267)
    Function/system disorder neurology
    Type disease
    Gene product
    Name calcium/calmodulin-dependent serine protein kinase (MAGUK family)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   abnormal protein/loss of function  
    Remark(s)