Microcephaly 11, primary, autosomal recessive

Definition

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.

Also known as autosomal recessive primary microcephaly caused by mutation in PHC1, microcephaly 11, primary, autosomal recessive, PHC1 autosomal recessive primary microcephaly — per MONDO

Also identified as

• DOID 0070287 per MONDO
• OMIM 615414 per MONDO
• UMLS C3809431 per MONDO