Intellectual developmental disorder, autosomal recessive 74

Definition

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene.

Also known as APC2 Sotos syndrome, intellectual developmental disorder, autosomal recessive 74, Sotos syndrome caused by mutation in APC2, Sotos syndrome type 3 — per MONDO

Also identified as

• DOID 0081218 per MONDO
• DOID 0112104 per MONDO
• OMIM 617169 per MONDO
• UMLS C4310684 per MONDO