Microcephaly autosomal dominant
Alternate names
Microcephaly with autosomal dominant inheritance; Autosomal dominant primary microcephaly; Autosomal dominant microcephaly
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.
NIH genetic and rare disease info
Microcephaly autosomal dominant is a rare disease.
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