Kleefstra syndrome
A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
9Q- syndrome
exact
9q-syndrome
exact
9q34 deletion syndrome
exact
9q34.3 microdeletion syndrome
exact
Kleefstra syndrome
exact
chromosome 9Q34.3 deletion syndrome
exact
chromosome 9q deletion syndrome
exact