Microcephaly 14, primary, autosomal recessive

Definition

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.

Also known as autosomal recessive primary microcephaly caused by mutation in SASS6, microcephaly 14, primary, autosomal recessive, SASS6 autosomal recessive primary microcephaly — per MONDO

Also identified as

• DOID 0070279 per MONDO
• OMIM 616402 per MONDO
• UMLS C4225338 per MONDO