Rare Disease Library

Ocular albinism with congenital sensorineural deafness

Waardenburg syndrome type 2 with ocular albinism · Ocular albinism with congenital sensorineural hearing loss

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Bartter syndrome type 4

Bartter syndrome with sensorineural hearing loss · Bartter syndrome with sensorineural deafness

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital hearing loss · DURS with hearing loss

Ocular albinism with late-onset sensorineural deafness

Ocular albinism with late-onset sensorineural hearing loss

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Sensorineural deafness with dilated cardiomyopathy

Neurosensory deafness with dilated cardiomyopathy · Neurosensory hearing loss with dilated cardiomyopathy

Sudden sensorineural hearing loss

Secondary acute sensorineural hearing loss

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

Syndromic sensorineural hearing loss due to COXPD · Syndromic sensorineural deafness due to COXPD

X-linked mixed deafness with perilymphatic gusher

Conductive deafness with stapes fixation · DFNX2