/microcephaly 13, primary, autosomal recessive

microcephaly 13, primary, autosomal recessive

Rare Disease

MONDO:0014473

Also Known As

CENPE autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in CENPEmicrocephaly 13, primary, autosomal recessiveMCPH13

Definition

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

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Associated Genes

CENPE ↗

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

External Resources

OMIM

OMIM:616051 ↗

GARD

GARD:16054 ↗

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