Rare Disease Library

Duane retraction syndrome with congenital deafness

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

Autosomal recessive distal renal tubular acidosis with deafness

AR dRTA with deafness · AR dRTA with hearing loss

Autosomal recessive distal renal tubular acidosis without deafness

Distal renal tubular acidosis type 1c · dRTA type 1c

Bartter syndrome type 4

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

Congenital disorder of glycosylation with deafness as a major feature

Congenital disorder of glycosylation with hearing loss as a major feature · CDG with hearing loss as a major feature

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

Ermine phenotype

O'Doherty syndrome · Pigmentary disorder with hearing loss

Hereditary sensory and autonomic neuropathy with deafness and global delay

HSAN with deafness and global delay · HSAN with hearing loss and global delay

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Progressive deafness with stapes fixation

Stapedo-vestibular ankylosis · Thies-Reis syndrome

Rare deafness

Rare hearing loss

Rare genetic deafness

Rare genetic hearing loss

Reticular dysgenesis

AK2 deficiency · De Vaal disease

X-linked hereditary sensory and autonomic neuropathy with deafness

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