2q37 microdeletion syndrome
2q37 microdeletion syndrome
Definition
A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
Also known as 2q37 microdeletion syndrome, 2q37 monosomy, Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, BDMR, brachydactyly intellectual disability syndrome, brachydactyly mental retardation syndrome, brachydactyly-intellectual disability syndrome, Del(2)(q37), deletion 2q37, deletion 2q37-qter, monosomy 2q37-qter — per MONDO