Orphanet: Autosomal dominant primary microcephaly

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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: Antenatal, Neonatal, Infancy
ICD-10: Q02
ICD-11: LA05.0
OMIM: 156580 616311 617520 619179 619180
UMLS: C4755316
MeSH: C537323
GARD: 3605
MedDRA: -

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Autosomal dominant primary microcephaly

ORPHA:2514

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

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