Rare Disease Library

X-linked mixed deafness with perilymphatic gusher

Conductive deafness with stapes fixation · DFNX2

Lissencephaly type 1 due to doublecortin gene mutation

X-linked lissencephaly type 1

Rare X-linked non-syndromic sensorineural deafness type DFN

X-linked isolated neurosensory deafness type DFN · X-linked isolated neurosensory hearing loss type DFN

Spastic paraplegia type 2

SPG2 · Spastic gait type 2

X-linked hereditary sensory and autonomic neuropathy with deafness

X-linked HSAN with deafness · X-linked auditory neuropathy with peripheral sensory neuropathy type 1

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome