Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy)

disorder

SNOMED 733418003CUI C4518774

Overview

Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy) 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.

Defective or absent horizontal voluntary eye movements

Frequent (30-79%)HP:0000657

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Echogenic kidneys

Frequent (30-79%)HP:0004719

Elongated superior cerebellar peduncles

Frequent (30-79%)HP:0011933

Frontal protuberance

Frequent (30-79%)HP:0002007

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Molar tooth sign

Frequent (30-79%)HP:0002419

Poor weight gain

Frequent (30-79%)HP:0001508

Small cerebellum

Frequent (30-79%)HP:0001321

Tachypnea

Frequent (30-79%)HP:0002789

Abnormal 5th metacarpal morphology

Occasional (5-29%)HP:0010013

Abnormal acetabulum morphology

Occasional (5-29%)HP:0003170

Abnormal optic disc morphology

Occasional (5-29%)HP:0012795

Abnormality of the basal ganglia

Occasional (5-29%)HP:0002134

Absence of the septum pellucidum

Occasional (5-29%)HP:0001331

Accessory nipples

Occasional (5-29%)HP:0002558

Aplasia/Hypoplasia involving bones of the thorax

Occasional (5-29%)HP:0006711

Apnea

Occasional (5-29%)HP:0002104

Bell-shaped chest

Occasional (5-29%)HP:0001591

Brachydactyly

Occasional (5-29%)HP:0001156

Breakdown of light-sensitive cells in back of eye

Occasional (5-29%)HP:0000556

Cerebellar abnormality

Occasional (5-29%)HP:0001317

Cerebellar vermis hypoplasia

Occasional (5-29%)HP:0001320

Cervical spinal canal stenosis

Occasional (5-29%)HP:0008445

Chronic lung disease

Occasional (5-29%)HP:0006528

Cognitive delay

Occasional (5-29%)HP:0001263

Colpocephaly

Occasional (5-29%)HP:0030048

Concave bridge of nose

Occasional (5-29%)HP:0005280

Cone-shaped epiphyses

Occasional (5-29%)HP:0010579

Corpus callosum abnormality

Occasional (5-29%)HP:0001273

Related Conditions

Jeune thoracic dystrophy(parent)

Joubert syndrome(parent)

Quick Facts

SNOMED CT: 733418003
UMLS CUI: C4518774
Fully Specified Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy (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.