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Autosomal recessive Charcot-Marie-Tooth disease type 2X

disorder
SNOMED 1187563003CUI C5569024

Overview

Autosomal recessive Charcot-Marie-Tooth disease type 2X 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.

Distal muscle weakness in lower limbs
Always present (100%)HP:0009053
Ankle flexion contracture
Frequent (30-79%)HP:0006466
Cavus foot
Frequent (30-79%)HP:0001761
Distal upper limb muscle weakness
Frequent (30-79%)HP:0008959
Gait disturbance
Frequent (30-79%)HP:0001288
Inability to heel walk
Frequent (30-79%)HP:0009027
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Lower limb atrophy
Frequent (30-79%)HP:0008944
Postural tremor
Frequent (30-79%)HP:0002174
Areflexia in lower limbs
Occasional (5-29%)HP:0002522
Extensor plantar responses
Occasional (5-29%)HP:0003487
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
Increased size of calf muscles
Occasional (5-29%)HP:0008981
Low intelligence
Occasional (5-29%)HP:0001249
Positive Romberg sign
Occasional (5-29%)HP:0002403
Proximal muscle weakness in lower limbs
Occasional (5-29%)HP:0008994
Wrist contracture
Occasional (5-29%)HP:0001239
Proximal lower limb muscle atrophy
Very rare (1-4%)HP:0008956
Axonal neuropathy
HP:0003477
Involuntary muscle stiffness, contraction, or spasm
Excluded (<1%)HP:0001257
Loss of distal sensation
HP:0002936
Proximal muscle weakness in upper limbs
Excluded (<1%)HP:0008997

Related Conditions

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

Quick Facts

SNOMED CT
1187563003
UMLS CUI
C5569024
Fully Specified Name
Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
22
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.