Term Name: | chromosome 2q37 deletion syndrome |
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Synonyms: | 2q37 microdeletion syndrome, Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Albright's hereditary osteodystrophy-like syndrome, BDMR, Brachydactyly-intellectual disability syndrome, Del(2)(q37), deletion 2q37, monosomy 2q37qter |
Definition: | A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. |
Ontology: | Human Disease [DOID:0111704] ( DOID:0111704 ) |