microcephaly 3, primary, autosomal recessive

Rare Disease

MONDO:0011488

Also Known As

CDK5RAP2 autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in CDK5RAP2microcephaly 3, primary, autosomal recessiveMCPH3

Definition

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.

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Associated Genes

CDK5RAP2 ↗

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

External Resources

OMIM

OMIM:604804 ↗

GARD

GARD:15373 ↗

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