Ehlers-Danlos syndrome, kyphoscoliotic type, 2
A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.
MONDO:0020066
Ehlers-Danlos syndrome
is_a
EDS with progressive kyphoscoliosis, myopathy, and deafness
exact
EDS with progressive kyphoscoliosis, myopathy, and hearing loss
exact
EDS, kyphoscoliotic and hearing loss type
exact
EDSKMH
related
EDSKSCL2
related
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness
exact
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
exact
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
exact
Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type
exact
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
exact
SPAC27F1.06c