chromosome 2q37 deletion syndrome (DOID:0111704)
Alliance: disease page
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
Alt IDs: OMIM:600430, MESH:C538317, NCI:C129021, ORDO:1001, UMLS_CUI:C2931817
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.