Autosomal dominant Charcot-Marie-Tooth disease type 2N

disorder

SNOMED 719515001CUI C2750090

Overview

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

Distal limb muscle weakness due to peripheral neuropathy

Always present (100%)HP:0002460

Absent Achilles reflex

Frequent (30-79%)HP:0003438

Hyporeflexia

Frequent (30-79%)HP:0001265

Loss of distal sensation

Frequent (30-79%)HP:0002936

Lower limb degeneration

Frequent (30-79%)HP:0008944

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Absent tendon reflexes

HP:0001284

Cavus foot

HP:0001761

Decreased motor nerve conduction velocity

HP:0003431

Hammertoe

HP:0001765

Inability to heel walk

HP:0009027

Muscle degeneration

HP:0003202

Peripheral axonal neuropathy

HP:0003477

Sensorineural deafness

HP:0000407

Related Conditions

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

Quick Facts

SNOMED CT: 719515001
UMLS CUI: C2750090
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.