Autosomal dominant Charcot-Marie-Tooth disease type 2K

disorder

SNOMED 719512003CUI C1842984

Overview

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

Cardiac arrhythmias

Frequent (30-79%)HP:0011675

Decreased nerve conduction velocity

Frequent (30-79%)HP:0000762

Gait disturbance

Frequent (30-79%)HP:0001288

Hand muscle atrophy

Frequent (30-79%)HP:0009130

Loss of distal sensation

Frequent (30-79%)HP:0002936

Muscle degeneration

Frequent (30-79%)HP:0003202

Peripheral demyelination

Frequent (30-79%)HP:0011096

Proximal neurogenic muscle weakness

Frequent (30-79%)HP:0003701

Delayed motor milestones

Occasional (5-29%)HP:0001270

Absent tendon reflexes

HP:0001284

Axonal regeneration

HP:0003450

Decreased motor nerve conduction velocity

HP:0003431

Decreased number of large and small myelinated fibres

HP:0003380

Distal muscle atrophy, upper and lower limbs

HP:0003693

Fetal foot inversion

HP:0001762

Kyphoscoliosis

HP:0002751

Split hand

HP:0001171

Weakness of outermost muscles

HP:0002460

Related Conditions

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

Quick Facts

SNOMED CT: 719512003
UMLS CUI: C1842984
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2K (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.