Microcephaly 6, primary, autosomal recessive

Definition

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

Also known as autosomal recessive primary microcephaly caused by mutation in CENPJ, CENPJ autosomal recessive primary microcephaly, microcephaly 6, primary, autosomal recessive — per MONDO

Also identified as

• DOID 0070290 per MONDO
• MESH C564247 per MONDO
• OMIM 608393 per MONDO
• UMLS C1842109 per MONDO