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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:0000308 | Microretrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000343 | Long philtrum |
| HP:0000365 | Hearing impairment |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000377 | Abnormal pinna morphology |
| HP:0000400 | Macrotia |
| HP:0000411 | Protruding ear |
| HP:0000483 | Astigmatism |
| HP:0000486 | Strabismus |
