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Temtamy preaxial brachydactyly syndrome
rareAn 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.
- Identifiers
- MONDO:0011533 OMIM:605282Orphanet:363417
- Causal genes
- CHSY1
- Part of
- Autosomal recessive diseaseCongenital disorder of glycosylationCongenital limb malformationDevelopmental anomaly of metabolic originSkeletal system disorderSyndromic disease
- Also known as
- 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 · TPBS
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