Rare Disease Library

Treft-Sanborn-Carey syndrome

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

Auditory neuropathy-optic atrophy syndrome

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Deafness-opticoacoustic nerve atrophy-dementia syndrome

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

Infantile-onset spinocerebellar ataxia

IOSCA · Ohaha syndrome

Mitochondrial myopathy-lactic acidosis-deafness syndrome

Mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Oculogastrointestinal muscular dystrophy

Visceral myopathy-familial external ophthalmoplegia syndrome

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

SANDO

Spastic paraplegia-optic atrophy-neuropathy syndrome

SPOAN

Spinal atrophy-ophthalmoplegia-pyramidal syndrome

Hamano-Tsukamoto syndrome

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome