Clinical Signs and Symptoms
ORPHA:1454 Joubert syndrome with hepatic defect
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal pattern of respiration HP:0002793
- Aplasia/Hypoplasia of the cerebellum HP:0007360
- Apnea HP:0002104
- Ataxia HP:0001251
- Cerebellar vermis hypoplasia HP:0001320
- Congenital hepatic fibrosis HP:0002612
- Elevated hepatic transaminase HP:0002910
- Hepatomegaly HP:0002240
- Intellectual disability, moderate HP:0002342
- Intrahepatic biliary atresia HP:0005248
- Muscular hypotonia HP:0001252
- Oculomotor apraxia HP:0000657
Very frequent
- Biparietal narrowing HP:0004422
- Chorioretinal coloboma HP:0000567
- Feeding difficulties in infancy HP:0008872
- Gait disturbance HP:0001288
- Hyperreflexia HP:0001347
- Iris coloboma HP:0000612
- Long face HP:0000276
- Nephropathy HP:0000112
- Nystagmus HP:0000639
- Optic nerve coloboma HP:0000588
- Visual impairment HP:0000505
Frequent
- Abnormality of neuronal migration HP:0002269
- Abnormality of the hypothalamus-pituitary axis HP:0000864
- Anteverted nares HP:0000463
- Aplasia/Hypoplasia of the corpus callosum HP:0007370
- Chronic hepatic failure HP:0100626
- Cirrhosis HP:0001394
- Highly arched eyebrow HP:0002553
- Hydrocephalus HP:0000238
- Inguinal hernia HP:0000023
- Low-set ears HP:0000369
- Macrocephaly HP:0000256
- Multicystic kidney dysplasia HP:0000003
- Neoplasm of the liver HP:0002896
- Occipital encephalocele HP:0002085
- Oral cleft HP:0000202
- Portal hypertension HP:0001409
- Postaxial hand polydactyly HP:0001162
- Prominent nasal bridge HP:0000426
- Ptosis HP:0000508
- Renal insufficiency HP:0000083
- Scoliosis HP:0002650
- Seizures HP:0001250
- Splenomegaly HP:0001744
- Strabismus HP:0000486
- Tremor HP:0001337
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.