Version: 8.0.0
Date: Tue Jan 28 2025
Ehlers-Danlos syndrome kyphoscoliotic type 2
DOID:0080735
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Ehlers-Danlos syndrome kyphoscoliotic type 2

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.
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None
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