Koolen-de Vries syndrome
A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
17q21.31 deletion syndrome
related
KANSL1-related intellectual disability syndrome
exact
KDVS
exact
KdVS
exact
Koolen de Vries syndrome
exact
Koolen-De Vries syndrome
exact
chromosome 17q21.31 deletion syndrome
exact
chromosome 17q21.31 microdeletion syndrome
related
microdeletion 17q21.31 syndrome
exact