Rare Disease Library

Wolfram syndrome

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

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Feigenbaum-Bergeron-Richardson syndrome · Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome · CAPOS syndrome

Deafness-onychodystrophy syndrome

Hearing loss-onychodystrophy syndrome

Deafness-opticoacoustic nerve atrophy-dementia syndrome

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

DOORS syndrome

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

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome · Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome

Lipodystrophy-intellectual disability-deafness syndrome

Rajab-Spranger syndrome · Lipodystrophy-intellectual disability-hearing loss syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Furukawa-Takagi-Nakao syndrome

Olivopontocerebellar atrophy-deafness syndrome

Olivopontocerebellar atrophy-hearing loss syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

Treft-Sanborn-Carey syndrome

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

Woodhouse-Sakati syndrome

Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome