ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
ADNP Syndrome
exact
ADNP syndrome
exact
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
exact
HVDAS
exact
Helsmoortel-Van der Aa syndrome
exact
autosomal dominant intellectual disability 28
exact
mental retardation, autosomal dominant 28
related