ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

7 OMIM references -
6 associated genes
33 signs/symptoms

Estrogen resistance syndrome

Joubert syndrome with oculorenal defect


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ESR1	(0.63)	CEP290

Citations in the biomedical literature:

Estrogen resistance syndrome		Joubert syndrome with oculorenal defect
	Synonym(s): (no synonyms)		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): (no data available)		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare renal disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 7 OMIM references - No MeSH references

Joubert syndrome with oculorenal defect
	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
Estrogen resistance syndrome
(no data available)