Microcephaly 8, primary, autosomal recessive

Definition

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.

Also known as autosomal recessive primary microcephaly caused by mutation in CEP135, CEP135 autosomal recessive primary microcephaly, microcephaly 8, primary, autosomal recessive — per MONDO

Also identified as

• DOID 0070282 per MONDO
• OMIM 614673 per MONDO
• UMLS C3553414 per MONDO