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Joubert syndrome with oculorenal defect
7 OMIM references -
6 associated genes
25 connected diseases
33 signs/symptoms
Disease Type of connection
Meckel syndrome
Senior-Loken syndrome
Bardet-Biedl syndrome
Leber congenital amaurosis
Joubert syndrome
Joubert syndrome with hepatic defect
Joubert syndrome with ocular defect
Joubert syndrome with orofaciodigital defect
Joubert syndrome with renal defect
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Acute promyelocytic leukemia
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Estrogen resistance syndrome
Lennox-Gastaut syndrome
Matthew-Wood syndrome
Mosaic variegated aneuploidy syndrome
Multiple endocrine neoplasia type 1
Papillary or follicular thyroid carcinoma
Synonym(s):
- Arima syndrome
- CORS
- Cerebello-oculo-renal syndrome
- Dekaban-Arima syndrome
- JS type B
- JS-OR
- Joubert syndrome with Senior-Loken syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
7 OMIM references -
No MeSH references
Very frequent
- Apnea / sleep apnea
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Renal disease / nephropathy
- Respiratory rhythm disorder
- Retinal / chorioretinal dysplasia / dystrophy

Frequent
- Coloboma of iris
- Long face
- Low set ears / posteriorly rotated ears
- Narrow forehead
- Nystagmus
- Ptosis
- Retinoschisis / retinal / chorioretinal coloboma
- Visual loss / blindness / amblyopia

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anteverted nares / nostrils
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Encephalocele / exencephaly
- High arched eyebrows
- High nasal bridge
- Hydrocephaly
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Polydactyly of toes
- Renal failure
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Upper limb polydactyly / hexadactyly