Autosomal dominant Charcot-Marie-Tooth disease type 2A1

disorder

SNOMED 717016001CUI C1861678

Overview

Autosomal dominant Charcot-Marie-Tooth disease type 2A1 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 muscle atrophy, upper and lower limbs

Always present (100%)HP:0003693

Peripheral axonal neuropathy

Always present (100%)HP:0003477

Facial palsy

Frequent (30-79%)HP:0010628

Absent tendon reflexes

HP:0001284

Axonal degeneration/regeneration

HP:0003378

Decreased motor nerve conduction velocity

HP:0003431

Decreased number of large and small myelinated fibres

HP:0003380

Hammertoe

HP:0001765

Hyporeflexia

HP:0001265

Inability to heel walk

HP:0009027

Limb muscle weakness

HP:0003690

Loss of distal sensation

HP:0002936

Neuropathy

HP:0009830

Onion bulb formation

HP:0003383

Peripheral axonal atrophy

HP:0003384

Pes cavus

HP:0001761

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: 717016001
UMLS CUI: C1861678
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.