C168975Level 5
Ehlers-Danlos Syndrome, Musculocontractural Type 1
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive form of Ehlers-Danlos syndrome caused by mutation(s) in the CHST14 gene, encoding carbohydrate sulfotransferase 14.
**Synonyms:** - EDSMC1
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