Rare Disease Library

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Jervell and Lange-Nielsen syndrome

Long QT interval-deafness syndrome · Long QT interval-hearing loss syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Mitochondrial DNA-related cardiomyopathy and hearing loss

mtDNA-related cardiomyopathy and deafness · Maternally-inherited cardiomyopathy and deafness

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-cerebellar ataxia-hearing loss syndrome

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

Epidermolysis bullosa simplex with nephropathy · Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome

Neutropenia-monocytopenia-deafness syndrome

Neutropenia-monocytopenia-hearing loss syndrome

Olivopontocerebellar atrophy-deafness syndrome

Olivopontocerebellar atrophy-hearing loss syndrome

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Perrault syndrome

XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome

Postlingual non-syndromic genetic deafness

Isolated postlingual genetic deafness · Isolated postlingual genetic hearing loss

Prelingual non-syndromic genetic deafness

Isolated prelingual genetic deafness · Isolated prelingual genetic hearing loss

Rare deafness

Rare hearing loss

Rare syndromic genetic deafness

Rare syndromic genetic hearing loss

Renal caliceal diverticuli-deafness syndrome

Renal caliceal diverticuli-hearing loss syndrome

Sensorineural hearing loss-early graying-essential tremor syndrome

Sensorineural deafness-early graying-essential tremor syndrome

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Spastic paraplegia-nephritis-deafness syndrome

Spastic paraplegia-nephritis-hearing loss syndrome · Fitzsimmons-Walson-Mellor syndrome

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

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

Thickened earlobes-conductive deafness syndrome

Thickened earlobes-conductive hearing loss syndrome · Escher-Hirt syndrome

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome