Sotos syndrome
NSD1 Sotos syndrome
exact
SOTOS1
related
Sotos syndrome
exact
Sotos syndrome 1
exact
Sotos syndrome caused by mutation in NSD1
exact
Sotos syndrome type 1
exact
Sotos' syndrome
exact
cerebral gigantism
exact
cerebral gigantism syndrome
exact
chromosome 5q35 deletion syndrome
exact
distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development
related
Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.
MONDO:0005071
nervous system disorder
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
excluded_subClassOf
MONDO:0019716
overgrowth syndrome
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0016904
partial deletion of the long arm of chromosome 5
is_a
MONDO:0018230
skeletal dysplasia
is_a