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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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001182 | Tapered finger |
| HP:0001238 | Slender finger |
| HP:0001324 | Muscle weakness |
| HP:0001363 | Craniosynostosis |
| HP:0001519 | Disproportionate tall stature |
| HP:0001581 | Recurrent skin infections |
| HP:0001582 | Redundant skin |
| HP:0001627 | Abnormal heart morphology |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0001892 | Abnormal bleeding |
