2q37 microdeletion syndrome
A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
excluded_subClassOf
MONDO:0016901
partial deletion of the long arm of chromosome 2
is_a
MONDO:0018230
skeletal dysplasia
is_a
MONDO:0019054
congenital limb malformation
is_a
2q37 deletion syndrome
related
2q37 microdeletion syndrome
exact
2q37 monosomy
exact
Albright hereditary osteodystrophy type 3
exact
Albright hereditary osteodystrophy-like syndrome
exact
BDMR
exact
Del(2)(q37)
exact
brachydactyly intellectual disability syndrome
exact
brachydactyly mental retardation syndrome
exact
brachydactyly-intellectual disability syndrome
exact
brachydactyly-mental retardation syndrome
related
deletion 2q37
exact
deletion 2q37-qter
exact
monosomy 2q37-qter
exact