Rare Disease Library

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Auditory neuropathy-optic atrophy syndrome

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Combined dystonia

Dystonia-plus syndrome

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Deafness-onychodystrophy syndrome

Hearing loss-onychodystrophy syndrome

Deafness-opticoacoustic nerve atrophy-dementia syndrome

Jensen syndrome · hearing loss-opticoacoustic nerve atrophy-dementia syndrome

Deafness-small bowel diverticulosis-neuropathy syndrome

Hearing loss-small bowel diverticulosis-neuropathy syndrome · Groll-Hirschowitz syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Dystonia-aphonia syndrome

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

Axonal neuropathy-optic atrophy-cognitive deficit syndrome · ANOAC

Leukoencephalopathy-dystonia-motor neuropathy syndrome

MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Nephropathy-deafness-hyperparathyroidism syndrome

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

Neutropenia-monocytopenia-deafness syndrome

Neutropenia-monocytopenia-hearing loss syndrome

OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Peripheral motor neuropathy-dysautonomia syndrome

Lisker-Garcia-Ramos syndrome

Spastic paraplegia-optic atrophy-neuropathy syndrome

SPOAN

Syndromic hereditary optic neuropathy

Treft-Sanborn-Carey syndrome

Optic atrophy-ophthalmoplegia-ptosis-hearing loss-myopathy syndrome · Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome