ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome (HVDAS), is a non-inherited neurodevelopmental disorder caused by mutations in the activity-dependent...

deletion syndrome a.k.a. Phelan–McDermid syndrome 3-Methylcrotonyl-CoA carboxylase deficiency Achondroplasia ADNP syndrome Aicardi syndrome Autism spectrum...

described. Mutations in ADNP are the cause of ADNP syndrome. Although it is unclear how mutations in the ADNP gene affect ADNP protein function, researchers...

is difficult). Chromosomal (e.g.: isodicentric 15q) ASD-risk genes (e.g.: ADNP, ARIDB1B, ANK2, SCN2A) ASD-associated CNVs (e.g.: 16p11.2 deletion/duplication...

increased. High anterior hairline is seen in the following conditions and syndromes: ADNP-related multiple congenital anomalies - intellectual disability - autism...