Rare Disease Library

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

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ADCA-DN syndrome · Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome

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

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

Gemignani syndrome

Spinocerebellar ataxia-amyotrophy-hearing loss syndrome · Spinocerebellar ataxia-amyotrophy-deafness syndrome

Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-cerebellar ataxia-hearing loss syndrome

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Pancreatic and cerebellar agenesis

Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome

Wolfram syndrome

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