microcephaly 6, primary, autosomal recessive

Rare Disease

MONDO:0012029

Also Known As

CENPJ autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in CENPJmicrocephaly 6, primary, autosomal recessiveMCPH6

Definition

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

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Associated Genes

CPAP ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:608393 ↗

GARD

GARD:15431 ↗

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MONDO:0013358

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