Sotos syndrome
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
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