Rare Disease Library

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Acro-renal-ocular syndrome

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos syndrome

Cerebrofacioarticular syndrome

Van Maldergem syndrome

Cerebrooculonasal syndrome

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Ferro-cerebro-cutaneous syndrome

Cerebro-cutaneous syndrome with iron overload

IVIC syndrome

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

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

OBSOLETE: Cerebrorenodigital syndrome

OBSOLETE: Oculo-skeletal-renal syndrome

OBSOLETE: Oculocerebroacral syndrome

OBSOLETE: Oculocerebroosseous syndrome

OBSOLETE: Plum syndrome

Oculo-palato-cerebral syndrome

Oculo-palato-cerebral dwarfism

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Oculocerebrofacial syndrome, Kaufman type

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

Thyrocerebrorenal syndrome

Cutler-Bass-Romshe syndrome

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS