Microcephaly 12, primary, autosomal recessive

Definition

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.

Also known as autosomal recessive primary microcephaly caused by mutation in CDK6, CDK6 autosomal recessive primary microcephaly, microcephaly 12, primary, autosomal recessive — per MONDO

Also identified as

• DOID 0070284 per MONDO
• OMIM 616080 per MONDO
• UMLS C4015156 per MONDO