Microcephaly 17, primary, autosomal recessive

Definition

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

Also known as autosomal recessive primary microcephaly caused by mutation in CIT, CIT autosomal recessive primary microcephaly, MCPH17, microcephaly 17, primary, autosomal recessive, microcephaly 17, primary, autosomal recessive; MCPH17 — per MONDO

Also identified as

• DOID 0070288 per MONDO
• OMIM 617090 per MONDO
• UMLS C4310723 per MONDO