Term Name:	temtamy preaxial brachydactyly syndrome
Synonyms:	PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
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.
Ontology:	Human Disease [DOID:0050814]   ( DOID:0050814 )