ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Definition

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.

Also known as ADNP Syndrome, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, autosomal dominant intellectual disability 28, Helsmoortel-Van der Aa syndrome, HVDAS — per MONDO

Also identified as

• DOID 0070058 per MONDO
• OMIM 615873 per MONDO
• Orphanet 404448 per MONDO
• SCTID 766824003 per MONDO
• UMLS C4014538 per MONDO