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GTR Home > Conditions/Phenotypes > Temtamy preaxial brachydactyly syndrome

Temtamy preaxial brachydactyly syndrome

Synonyms
Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive disorder characterized by bilateral, symmetric preaxial brachydactyly and hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation (summary by Li et al., 2010). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHSY, CSS1, ChSy-1, TPBS, CHSY1
    Summary: chondroitin sulfate synthase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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