Microcephaly 13, primary, autosomal recessive

Definition

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

Also known as autosomal recessive primary microcephaly caused by mutation in CENPE, CENPE autosomal recessive primary microcephaly, microcephaly 13, primary, autosomal recessive — per MONDO

Also identified as

• DOID 0070283 per MONDO
• OMIM 616051 per MONDO
• UMLS C4015080 per MONDO