Rare Disease Library

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Acro-renal-ocular syndrome

Acrorenal syndrome

Adrenal Cushing syndrome

Adrenal CS

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

Cerebellar-facial-dental syndrome

Cerebellofaciodental syndrome

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos syndrome

Cerebrooculonasal syndrome

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Gómez-López-Hernández syndrome

Cerebellotrigeminal-dermal dysplasia syndrome · Craniosynostosis-alopecia-brain defect syndrome

Oculo-palato-cerebral syndrome

Oculo-palato-cerebral dwarfism

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Oculootodental syndrome

OOD

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Cerebrorenal syndrome, Perez type

Radio-renal syndrome

Renal coloboma syndrome

Coloboma of optic nerve with renal disease · Papillo-renal syndrome

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

Spinocerebellar ataxia type 7

Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome

Thyrocerebrorenal syndrome

Cutler-Bass-Romshe syndrome

Wildervanck syndrome

Cervicooculoacoustic syndrome

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS