temtamy preaxial brachydactyly syndrome (DOID:0050814)
Alliance: disease page
Synonyms: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Alt IDs: OMIM:605282, MESH:C536958, ORDO:363417, UMLS_CUI:C1854466
Definition: A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.