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Temtamy preaxial brachydactyly syndrome
Genetics:
- associated with defects in CHSY1
Clinical manifestations:
- multiple congenital anomalies
- mental retardation
- sensorineural deafness
- talon cusps of upper central incisors
- growth retardation
- bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly & hyperphalangism
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 605282
References
OMIM :accession 605282