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Joubert syndrome
9 OMIM references -
10 associated genes
25 connected diseases
35 signs/symptoms
Disease Type of connection
Joubert syndrome with ocular defect
Meckel syndrome
Acrocallosal syndrome
Hydrolethalus
Joubert syndrome with hepatic defect
Joubert syndrome with oculorenal defect
Joubert syndrome with orofaciodigital defect
Joubert syndrome with renal defect
MORM syndrome
Monomelic amyotrophy
Multiple epiphyseal dysplasia, Al-Gazali type
Senior-Boichis syndrome
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Burkitt lymphoma
Chronic respiratory distress with surfactant metabolism deficiency
Congenital pulmonary alveolar proteinosis
Desquamative interstitial pneumonia
Idiopathic pulmonary fibrosis
Infant acute respiratory distress syndrome
Precursor T-cell acute lymphoblastic leukemia
Bardet-Biedl syndrome
Synonym(s):
- CPD IV
- Cerebelloparenchymal disorder IV
- Classic Joubert syndrome
- Joubert syndrome type A
- Joubert-Boltshauser syndrome
- Pure Joubert syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
9 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
- Respiratory rhythm disorder

Frequent
- Abnormal gait
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Long face
- Narrow forehead
- Nystagmus

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of spine, vertebrae and pelvis
- Anteverted nares / nostrils
- Cleft lip and palate
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Encephalocele / exencephaly
- High arched eyebrows
- High nasal bridge
- Hydrocephaly
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Low set ears / posteriorly rotated ears
- Polydactyly of toes
- Ptosis
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Tremor
- Upper limb polydactyly / hexadactyly