Microcephaly 3, primary, autosomal recessive

Definition

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

Also known as autosomal recessive primary microcephaly caused by mutation in CDK5RAP2, CDK5RAP2 autosomal recessive primary microcephaly, microcephaly 3, primary, autosomal recessive — per MONDO

Also identified as

• DOID 0070286 per MONDO
• MESH C565746 per MONDO
• OMIM 604804 per MONDO
• UMLS C1858108 per MONDO