DeSanto-Shinawi syndrome due to WAC point mutation
MONDO:0003847
hereditary disease
is_a
MONDO:0018760
DeSanto-Shinawi syndrome
is_a
DESANTO-SHINAWI syndrome
broad
DESSH
broad
Desanto-Shinawi syndrome
broad
developmental delay, behavioural abnormalities, Facial Dysmorphism, and ocular abnormalities
related
facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
exact