Ehlers-Danlos syndrome kyphoscoliotic type 2

Term ID

DOID:0080735

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/28306229/

References

• OMIM:614557

Ontology

Human Disease   ( DOID:0080735 )