Rare Disease Library

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Autosomal recessive isolated neurosensory hearing loss type DFNB · Autosomal recessive isolated neurosensory deafness type DFNB

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Distal arthrogryposis type 6 · Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome

Autosomal recessive Alport syndrome

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

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Autosomal recessive hereditary sensory and autonomic neuropathy

Autosomal recessive isolated optic atrophy

Autosomal recessive non-syndromic optic atrophy

Autosomal recessive non-syndromic intellectual disability

AR-NSID · NS-ARID

Autosomal recessive Robinow syndrome

COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

SCABD · SCAR3

Autosomal recessive syndromic cerebellar ataxia

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

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

DIAPH1-related sensorineural deafness-thrombocytopenia syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Ectodermal dysplasia-sensorineural deafness syndrome

Ectodermal dysplasia-sensorineural hearing loss syndrome

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

High myopia-sensorineural deafness syndrome

High myopia-sensorineural hearing loss syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

MYBPC1-related autosomal recessive non-lethal AMC syndrome

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome · Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome

Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Autosomal dominant isolated neurosensory deafness type DFNA · Autosomal dominant isolated neurosensory hearing loss type DFNA

Rare mitochondrial non-syndromic sensorineural deafness

Isolated mitochondrial neurosensory deafness · Isolated mitochondrial sensorineural deafness

Rare X-linked non-syndromic sensorineural deafness type DFN

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

Sensorineural hearing loss-early graying-essential tremor syndrome

Sensorineural deafness-early graying-essential tremor syndrome

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