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Microcephaly 6, primary, autosomal recessive

MONDO:0012029

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

Also known as: CENPJ autosomal recessive primary microcephaly, autosomal recessive primary microcephaly caused by mutation in CENPJ, microcephaly 6, primary, autosomal recessive, MCPH6

7 clinical trials for this condition and its sub-types.

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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)
Trials to join now! 4 Not yet recruiting 1 Not yet finished but already full! 1 Completed 1
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