Also known as BDMR, Brachydactyly-intellectual disability syndrome, Monosomy 2q37-qter, Del(2)(q37), Albright hereditary osteodystrophy type 3, Albright Hereditary Osteodystrophy-Like Syndrome, Brachydactyly Mental Retardation Syndrome, Brachydactyly-Mental Retardation Syndrome
Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).