Charcot-Marie-Tooth disease type 4E

disorder

SNOMED 763135001CUI C4721437

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormality of the cranial nerves

HP:0001291

Absent tendon reflexes

HP:0001284

Decreased motor nerve conduction velocity

HP:0003431

Delayed motor milestones

HP:0001270

Distal muscle atrophy, upper and lower limbs

HP:0003693

Hypotonia, in neonatal onset

HP:0001319

Neuropathy

HP:0009830

Onion bulb formation

HP:0003383

Peripheral hypomyelination

HP:0007182

Respiratory insufficiency

HP:0002093

Upper limb muscle weakness

HP:0003484

Weakness of outermost muscles

HP:0002460

Related Conditions

Autosomal recessive demyelinating Charcot-Marie-Tooth(parent)

Quick Facts

SNOMED CT: 763135001
UMLS CUI: C4721437
Fully Specified Name: Charcot-Marie-Tooth disease type 4E (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.