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Joubert syndrome with hepatic defect
1 OMIM reference -
3 associated genes
15 connected diseases
49 signs/symptoms
Disease Type of connection
Meckel syndrome
Joubert syndrome
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
Senior-Boichis syndrome
Bleeding diathesis due to thromboxane synthesis deficiency
Juvenile autosomal recessive medullary cystic kidney disease
Senior-Loken syndrome
Chronic respiratory distress with surfactant metabolism deficiency
Congenital pulmonary alveolar proteinosis
Desquamative interstitial pneumonia
Idiopathic pulmonary fibrosis
Infant acute respiratory distress syndrome
Papillary or follicular thyroid carcinoma
Bardet-Biedl syndrome
Synonym(s):
- COACH syndrome
- Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis
- Gentile syndrome
- JS-H
- Joubert syndrome with congenital hepatic fibrosis
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CC2D2A Q9P2K1612013
RPGRIP1L Q68CZ1610937
TMEM67 Q5HYA8609884
Very frequent
- Abnormal hepatic enzymes / transaminases
- Apnea / sleep apnea
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Congenital hepatic fibrosis
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrahepatic biliary tract atresia / obstruction
- Oculomotor apraxia / dyspraxia
- Respiratory rhythm disorder

Frequent
- Abnormal gait
- Coloboma of iris
- Coloboma of the optic nerve
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hypereflexia
- Long face
- Mild visual loss / impaired visual acuity
- Narrow forehead
- Nystagmus
- Renal disease / nephropathy
- Retinoschisis / retinal / chorioretinal coloboma

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anteverted nares / nostrils
- Chronic hepatic failure
- Cirrhosis
- Cleft lip and palate
- Corpus callosum / septum pellucidum total / partial agenesis
- Encephalocele / exencephaly
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- High arched eyebrows
- High nasal bridge
- Hydrocephaly
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Inguinal / inguinoscrotal / crural hernia
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Multicystic kidney / renal dysplasia
- Oral synechiae / abnormal frenulae
- Portal hypertension
- Postaxial polydactyly (hand)
- Ptosis
- Renal failure
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly
- Strabismus / squint
- Tremor