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GENATLAS PHENOTYPE

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.3715C�¨T/p.Gln1239X) in exon 18, resulting in the introduction of a premature stop codon (PMID: 19930152)) in 5 indian families