Microcephaly 1, primary, autosomal recessive

Definition

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.

Also known as autosomal recessive primary microcephaly caused by mutation in MCPH1, MCPH1 autosomal recessive primary microcephaly, microcephaly 1, primary, autosomal recessive — per MONDO

Also identified as

• DOID 0070285 per MONDO
• MESH C565384 per MONDO
• OMIM 251200 per MONDO
• Orphanet 52183 per MONDO
• UMLS C1855081 per MONDO