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Joubert syndrome with renal defect
3 OMIM references -
5 associated genes
53 connected diseases
34 signs/symptoms
Disease Type of connection
Meckel syndrome
Senior-Loken syndrome
Juvenile autosomal recessive medullary cystic kidney disease
Joubert syndrome
Joubert syndrome with hepatic defect
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Spinocerebellar ataxia type 10
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Infantile autosomal recessive medullary cystic kidney disease
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Late-onset autosomal recessive medullary cystic kidney disease
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia
Giant cell glioblastoma
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Muscle filaminopathy
Spondylocarpotarsal synostosis
Bleeding diathesis due to thromboxane synthesis deficiency
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Apolipoprotein A-I deficiency
Behavioral variant of frontotemporal dementia
Combined oxidative phosphorylation defect type 2
Fibronectin glomerulopathy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Osteogenesis imperfecta type 3
Papillary or follicular thyroid carcinoma
Progressive non-fluent aphasia
Pseudohypoaldosteronism type 2E
Semantic dementia
Spastic paraplegia - Paget disease of bone
Tangier disease
- JS-R

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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:
3 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
- Oculomotor apraxia / dyspraxia
- Renal disease / nephropathy
- Respiratory rhythm disorder

- Abnormal gait
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Long face
- Low set ears / posteriorly rotated ears
- Narrow forehead
- Nystagmus

- 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