Rare Disease Library

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS

Acrorenal syndrome

Adrenal Cushing syndrome

Adrenal CS

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Cerebrocostomandibular syndrome

Cerebrofacioarticular syndrome

Van Maldergem syndrome

Cerebrooculonasal 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

Faciocardiorenal syndrome

Eastman-Bixler syndrome

Ferro-cerebro-cutaneous syndrome

Cerebro-cutaneous syndrome with iron overload

Hamel cerebro-palato-cardiac syndrome

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

mtDNA depletion syndrome, hepatocerebrorenal form

OBSOLETE: Cerebrorenodigital syndrome

Oculo-palato-cerebral syndrome

Oculo-palato-cerebral dwarfism

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal 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