ODCs

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3 OMIM references -
5 associated genes
34 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Joubert syndrome with renal defect

Distal myopathy with posterior leg and anterior hand involvement


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NPHP1	(0.77)	FLNC

Citations in the biomedical literature:

Joubert syndrome with renal defect		Distal myopathy with posterior leg and anterior hand involvement
	Synonym(s): - JS-R		Synonym(s): - Distal ABD-filaminopathy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare renal disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Joubert syndrome with renal 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 - Oculomotor apraxia / dyspraxia - Renal disease / nephropathy - Respiratory rhythm disorder Frequent - Abnormal gait - Failure to thrive / difficulties for feeding in infancy / growth delay - Long face - Low set ears / posteriorly rotated ears - Narrow forehead - Nystagmus Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anteverted nares / nostrils - Cleft lip and palate - Coloboma of iris - 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 - Ptosis - Renal failure - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Tremor - Upper limb polydactyly / hexadactyly
Distal myopathy with posterior leg and anterior hand involvement
(no data available)