Autosomal dominant Charcot-Marie-Tooth disease type 2J

disorder

SNOMED 717014003CUI C1843153

Overview

Autosomal dominant Charcot-Marie-Tooth disease type 2J 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.

Recurrent coughing spasms

Always present (100%)HP:0033362

Areflexia

HP:0001284

Axonal degeneration/regeneration

HP:0003378

Deglutition disorder

HP:0002015

Distal muscle atrophy, upper and lower limbs

HP:0003693

Hyporeflexia

HP:0001265

Inability to heel walk

HP:0009027

Loss of distal sensation

HP:0002936

Peripheral demyelination

HP:0011096

Pes cavus

HP:0001761

Progressive bilateral sensorineural hearing loss

HP:0000408

Sensorineural deafness

HP:0000407

Sluggish pupillary reaction

HP:0030211

Steppage gait

HP:0003376

Weakness of outermost muscles

HP:0002460

Related Conditions

Autosomal dominant Charcot-Marie-Tooth disease type 2(parent)

Quick Facts

SNOMED CT: 717014003
UMLS CUI: C1843153
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.