Joubert syndrome with hepatic defect

disorder

SNOMED 721847002CUI C1857662

Overview

Joubert syndrome with hepatic defect is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Psychomotor development deficiency

Always present (100%)HP:0001263

Abnormal liver function tests

Very frequent (80-99%)HP:0002910

Abnormal respiratory patterns

Very frequent (80-99%)HP:0002793

Apnea

Very frequent (80-99%)HP:0002104

Ataxia

Very frequent (80-99%)HP:0001251

Cerebellar hypoplasia/atrophy

Very frequent (80-99%)HP:0007360

Congenital hepatic fibrosis

Very frequent (80-99%)HP:0002612

Defective or absent horizontal voluntary eye movements

Very frequent (80-99%)HP:0000657

Enlarged liver

Very frequent (80-99%)HP:0002240

Intrahepatic atresia of biliary duct

Very frequent (80-99%)HP:0005248

Liver fibrosis

Very frequent (80-99%)HP:0001395

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Molar tooth sign

Very frequent (80-99%)HP:0002419

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Coloboma of choroid

Frequent (30-79%)HP:0000567

Decreased width of the skull

Frequent (30-79%)HP:0004422

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Gait disturbance

Frequent (30-79%)HP:0001288

Growth failure

Frequent (30-79%)HP:0001510

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Iris coloboma

Frequent (30-79%)HP:0000612

Kidney damage

Frequent (30-79%)HP:0000112

Nephronophthisis

Frequent (30-79%)HP:0000090

Notched pupil

Frequent (30-79%)HP:0000589

Optic disc coloboma

Frequent (30-79%)HP:0000588

Poor vision

Frequent (30-79%)HP:0000505

Vertical enlargement of face

Frequent (30-79%)HP:0000276

Abnormality of neuronal migration

Occasional (5-29%)HP:0002269

Abnormality of the hypothalamus-pituitary axis

Occasional (5-29%)HP:0000864

Related Conditions

Congenital hepatic fibrosis(parent)

Digestive system hereditary disorder(parent)

Joubert syndrome(parent)

Quick Facts

SNOMED CT: 721847002
UMLS CUI: C1857662
Fully Specified Name: Joubert syndrome with congenital hepatic fibrosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.