Autosomal dominant Charcot-Marie-Tooth disease type 2F

disorder

SNOMED 719510006CUI C1847823

Overview

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

Weakness of outermost muscles

Always present (100%)HP:0002460

Amyotrophy involving the upper limbs

Very frequent (80-99%)HP:0009129

Areflexia in lower limbs

Very frequent (80-99%)HP:0002522

EMG: chronic denervation signs

Very frequent (80-99%)HP:0003444

EMG: neuropathic changes

Very frequent (80-99%)HP:0003445

Fetal foot inversion

Very frequent (80-99%)HP:0001762

Impaired pain sensation

Very frequent (80-99%)HP:0007328

Impaired thermal sensitivity

Very frequent (80-99%)HP:0010829

Limb fasciculation

Very frequent (80-99%)HP:0007289

Lower limb muscle hypotrophy

Very frequent (80-99%)HP:0008944

Lower limb muscle weakness

Very frequent (80-99%)HP:0007340

Peripheral axonal neuropathy

Very frequent (80-99%)HP:0003477

Pes cavus

Very frequent (80-99%)HP:0001761

Reduced tendon reflexes

Very frequent (80-99%)HP:0001315

Steppage gait

Very frequent (80-99%)HP:0003376

Claw hand deformity

Frequent (30-79%)HP:0034337

Hyporeflexia of upper limbs

Frequent (30-79%)HP:0012391

Muscle fasciculation

Occasional (5-29%)HP:0002380

Muscle spasm

Occasional (5-29%)HP:0003394

Chronic axonal neuropathy

HP:0007267

Decreased motor nerve conduction velocity

HP:0003431

Inability to heel walk

HP:0009027

Loss of distal sensation

HP:0002936

Ulnar claw

HP:0001178

Related Conditions

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

Quick Facts

SNOMED CT: 719510006
UMLS CUI: C1847823
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.