Temtamy preaxial brachydactyly syndrome

An autosomal recessive disease 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.

Also known as: preaxial brachydactyly syndrome, TEMTAMY type, temtamy preaxial brachydactyly syndrome, TEMTAMY preaxial brachydactyly syndrome, TPBS, intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies, preaxial brachydactyly syndrome, Temtamy type

1 clinical trial for this condition and its sub-types, 0 tagged with Temtamy preaxial brachydactyly syndrome itself.