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Ehlers-Danlos syndrome kyphoscoliotic type 2
Summary
- Definition
- An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15.
- Super Class
- Ehlers-Danlos syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080735
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NWM8 | Peptidyl-prolyl cis-trans isomerase FKBP14 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012385 | Camptodactyly |
| HP:0003326 | Myalgia |
| HP:0001762 | Talipes equinovarus |
| HP:0001382 | Joint hypermobility |
| HP:0000506 | Telecanthus |
