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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 22-09-2016
Symbol MCPH9
Location 15q21.1
HGNC id 6957
Name microcephaly primary 9
Corresponding gene CEP152
Main clinical features
  • mental retardation and partial deficiency of growth hormone (GH) secretion
  • severe microcephaly from birth and absence of other dysmorphic features
  • mild delay in early motor development, moderate cognitive impairment, difficult behavior patterns, but no other neurological abnormalities
  • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    Type disease
    Remark(s)