Autosomal dominant primary microcephaly

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Autosomal dominant primary microcephaly

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Autosomal dominant primary microcephaly?

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