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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-03-2009
Symbol MCPH7
Location 1p33
Name microcephaly primary 7
Corresponding gene STIL
Main clinical features
  • hypoplasia of the cerebral cortex with a generalized reduction in the size of the entire brain with mild to severe mental retardation without any other neurological features
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s) nonsense mutation (c.3715CT/p.Gln1239X) in exon 18, resulting in the introduction of a premature stop codon (PMID: 19930152)) in 5 indian families