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Up to: Skeletal system disorder · Syndromic disease · Autosomal recessive disease · Developmental anomaly of metabolic origin · Congenital limb malformation · Congenital disorder of glycosylation
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.
This condition has no sub-types.