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Ehlers-Danlos syndrome musculocontractural type 1
Summary
- Definition
- An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14.
- Super Class
- Ehlers-Danlos syndrome autosomal recessive disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NCH0 | Carbohydrate sulfotransferase 14 |
