microcephaly 8, primary, autosomal recessive

Rare Disease

MONDO:0013849

Also Known As

CEP135 autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in CEP135microcephaly 8, primary, autosomal recessiveMCPH8

Definition

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.

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Associated Genes

CEP135 ↗

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

External Resources

OMIM

OMIM:614673 ↗

GARD

GARD:15833 ↗

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