Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation

disorder

SNOMED 1187564009CUI C5569025

Overview

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation 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.

Decreased amplitude of sensory action potentials

Always present (100%)HP:0007078

Decreased motor nerve conduction velocity

Always present (100%)HP:0003431

Abnormality of peripheral somatosensory evoked potentials

Very frequent (80-99%)HP:0100290

Distal muscle weakness in lower limbs

Very frequent (80-99%)HP:0009053

Lower limb amyotrophy

Very frequent (80-99%)HP:0007210

Lower limb atrophy

Very frequent (80-99%)HP:0008944

Mixed demyelinating and axonal polyneuropathy

Very frequent (80-99%)HP:0007327

Peripheral sensory axonal neuropathy

Very frequent (80-99%)HP:0003390

Reduced tendon reflexes

Very frequent (80-99%)HP:0001315

Weakness of outermost muscles

Very frequent (80-99%)HP:0002460

Abnormal motor nerve conduction velocity

Frequent (30-79%)HP:0040131

Abnormal peripheral myelination

Frequent (30-79%)HP:0003130

Amyotrophy involving the upper limbs

Frequent (30-79%)HP:0009129

Contractures of the hands

Frequent (30-79%)HP:0009473

Decreased distal sensory nerve action potential

Frequent (30-79%)HP:0007230

Decreased distal vibration sense

Frequent (30-79%)HP:0006886

Difficulty running

Frequent (30-79%)HP:0009046

Distal muscle atrophy, upper and lower limbs

Frequent (30-79%)HP:0003693

Extensor plantar responses

Frequent (30-79%)HP:0003487

Flexion deformity of finger

Frequent (30-79%)HP:0012785

Functional motor deficit

Frequent (30-79%)HP:0004302

Gait disturbance

Frequent (30-79%)HP:0001288

Hyporeflexia

Frequent (30-79%)HP:0001265

Impaired vibratory sensation

Frequent (30-79%)HP:0002495

Intrinsic hand muscle atrophy

Frequent (30-79%)HP:0008954

Loss of tactile sensation

Frequent (30-79%)HP:0010830

Motor axonal neuropathy

Frequent (30-79%)HP:0007002

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Proximal upper limb amyotrophy

Frequent (30-79%)HP:0008948

Sensory impairment

Frequent (30-79%)HP:0003474

Related Conditions

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

Quick Facts

SNOMED CT: 1187564009
UMLS CUI: C5569025
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2Z (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.