Rare Disease Library

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

Acro-renal-ocular syndrome

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

Cerebellar ataxia-hypogonadism syndrome

Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

Cerebellar-facial-dental syndrome

Cerebellofaciodental syndrome

Cerebrooculonasal syndrome

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Hydrocephaly-cerebellar agenesis syndrome

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

OBSOLETE: Oculocerebroacral syndrome

OBSOLETE: Oculocerebroosseous syndrome

OBSOLETE: Plum syndrome

Oculo-palato-cerebral syndrome

Oculo-palato-cerebral dwarfism

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Oculoectodermal syndrome

Toriello Lacassie Droste syndrome · Aplasia cutis congenita-epibulbar dermoids syndrome

Oculootodental syndrome

OOD

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Olivopontocerebellar atrophy-deafness syndrome

Olivopontocerebellar atrophy-hearing loss syndrome

Spinocerebellar ataxia type 7

Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome

Spinocerebellar ataxia-dysmorphism syndrome

Spondylo-ocular syndrome

Thyrocerebrorenal syndrome

Cutler-Bass-Romshe syndrome