Microcephaly 11, primary, autosomal recessive

MONDO:0014173

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.

Also known as: PHC1 autosomal recessive primary microcephaly, autosomal recessive primary microcephaly caused by mutation in PHC1, microcephaly 11, primary, autosomal recessive, MCPH11

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neurodevelopmental disorder (147) Human disease (14) Hereditary neurological disease (6) Autosomal recessive disease (4) Microcephaly (4) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0)

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