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Autosomal dominant primary microcephaly

Disease definition

A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.

ORPHA:2514

Classification level: Subtype of disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q02
  • OMIM: 156580  616311  617520  619179  619180
  • UMLS: C0220693
  • MeSH: C537323
  • GARD: 3605
  • MedDRA: -
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