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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:0001933 | Subcutaneous hemorrhage |
| HP:0002019 | Constipation |
| HP:0002107 | Pneumothorax |
| HP:0002119 | Ventriculomegaly |
| HP:0002194 | Delayed gross motor development |
| HP:0002650 | Scoliosis |
| HP:0002751 | Kyphoscoliosis |
| HP:0002761 | Generalized joint hypermobility |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0002947 | Cervical kyphosis |
