Hereditary sensory and motor neuropathy, type VI

disorder

SNOMED 128203003CUI C0393807

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.

Distal muscle atrophy, upper and lower limbs

Always present (100%)HP:0003693

Hyporeflexia

Always present (100%)HP:0001265

Loss of distal sensation

Always present (100%)HP:0002936

Optic atrophy

Always present (100%)HP:0000648

Proximal neurogenic muscle weakness

Always present (100%)HP:0003701

Weakness of outermost muscles

Always present (100%)HP:0002460

Vocal cord paresis

Frequent (30-79%)HP:0001604

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Mild neurosensory hearing loss

Occasional (5-29%)HP:0008587

Pes cavus

Occasional (5-29%)HP:0001761

Steppage gait

Occasional (5-29%)HP:0003376

Abnormal colour vision

HP:0000551

Abnormal visual evoked responses

HP:0000649

Absent tendon reflexes

HP:0001284

Axonal degeneration/regeneration

HP:0003378

Central scotoma

HP:0000603

Decreased motor nerve conduction velocity

HP:0003431

Decreased visual acuity, slowly progressive

HP:0007924

Distal sensory impairment of all modalities

HP:0003409

Dysmetric eye movements

HP:0000641

Increased lumbar lordosis

HP:0002938

Limb muscle weakness

HP:0003690

Lost smell

HP:0000458

Optic disc pallor

HP:0000543

Positive Romberg sign

HP:0002403

Ringing in ears

HP:0000360

Related Conditions

Hereditary optic atrophy(parent)

Hereditary motor and sensory neuropathy(parent)

Quick Facts

SNOMED CT: 128203003
UMLS CUI: C0393807
Fully Specified Name: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.