Microcephaly 5, primary, autosomal recessive

Definition

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

Also known as ASPM autosomal recessive primary microcephaly, autosomal recessive primary microcephaly caused by mutation in ASPM, microcephaly 5, primary, autosomal recessive — per MONDO

Also identified as

• DOID 0070280 per MONDO
• MESH C563871 per MONDO
• OMIM 608716 per MONDO
• UMLS C1837501 per MONDO