2q37 microdeletion syndrome

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2q37 microdeletion syndrome

Synonyms: Albright hereditary osteodystrophy type 3 | Albright hereditary osteodystrophy-like syndrome | Brachydactyly-intellectual disability syndrome | Del(2)(q37) | Deletion 2q37 | Monosomy 2q37qter

A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability brachymetaphalangy of digits 3-5 short stature obesity hypotonia specific facial dysmorphism abnormal behavior autism or autism spectrum disorder joint hypermobility/dislocation and scoliosis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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2q37 microdeletion syndrome?

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