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GTR Home > Conditions/Phenotypes > Chromosome 2q37 deletion syndrome

Chromosome 2q37 deletion syndrome

Synonyms
2q37 microdeletion syndrome; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-Mental Retardation syndrome; Chromosome 2, monosomy 2q37; Deletion 2q37; Monosomy 2q37
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes. Variable clinical features included brachydactyly type E (BDE), affecting the metacarpals and metatarsals (in about 50% of patients), short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features. However, many individuals with deletions do not show cognitive deficits (summary by Villavicencio-Lorini et al., 2013, Wheeler et al., 2014, Jean-Marcais et al., 2015). [from OMIM]

Available tests

23 tests are in the database for this condition.

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Clinical tests (22 available)

Cytogenetics Tests

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: AHO3, BDMR, HA6116, HD4, HDAC-4, HDAC-A, HDACA, NEDCHF, NEDCHID, HDAC4
    Summary: histone deacetylase 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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