FKBP14

FK506 binding protein 14
OMIM: 614505
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
R-numbers: R101
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos Syndrome, Kyphoscoliotic Form, Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557, Kyphoscoliotic EDS, kEDS-FKBP14, EDS VI, EDS VIA, Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
R-numbers: R125
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557