ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome (HVDAS), is a non-inherited neurodevelopmental disorder caused by mutations in the activity-dependent...
16 KB (1,520 words) - 11:20, 24 August 2024
Hypotonia (redirect from Floppy Baby Syndrome)
deletion syndrome a.k.a. Phelan–McDermid syndrome 3-Methylcrotonyl-CoA carboxylase deficiency Achondroplasia ADNP syndrome Aicardi syndrome Autism spectrum...
22 KB (2,486 words) - 17:30, 29 April 2024
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...
6 KB (778 words) - 14:37, 24 January 2024
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...
17 KB (1,194 words) - 06:44, 8 July 2024
increased. High anterior hairline is seen in the following conditions and syndromes: ADNP-related multiple congenital anomalies - intellectual disability - autism...
4 KB (223 words) - 15:22, 2 March 2024