Coffin-Lowry syndrome
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0005392
scoliosis
excluded_subClassOf
MONDO:0016565
obsolete syndromic genetic obesity (obsolete MONDO:0016565)
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
is_a
CLS
exact
Coffin Lowry Syndrome
exact
Coffin syndrome
related
Coffin syndrome 1
related
Coffin-Lowry syndrome
exact
Coffin-Lowry syndrome, X-linked dominant
exact
dwarfism, lean spastic type
related
intellectual disability with osteocartilaginous abnormalities
related
lean spastic dwarfism
related
mental retardation with osteocartilaginous abnormalities
related
SPCC4G3.08