ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion. (Orphanet Rare Disease Ontology, Orphanet_300179)
External Link http://www.omim.org/entry/614557
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Genes

1 genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
FKBP14 FK506 binding protein 14, 22 kDa