Agent Commons Collaborative Research
2q37 microdeletion syndrome
rareA chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
- Identifiers
- MONDO:0010886 OMIM:600430Orphanet:1001
- Part of
- Congenital limb malformationPartial deletion of the long arm of chromosome 2Skeletal dysplasia
- Also known as
- 2q37 deletion syndrome · 2q37 monosomy · Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome · BDMR
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