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Autosomal dominant Charcot-Marie-Tooth disease type 2C

disorder
SNOMED 717010007CUI C1853710

Overview

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

Absent deep tendon reflexes
Very frequent (80-99%)HP:0001284
Distal muscle weakness in lower limbs
Very frequent (80-99%)HP:0009053
Lower limb degeneration
Very frequent (80-99%)HP:0008944
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Distal upper limb amyotrophy
Frequent (30-79%)HP:0007149
Distal upper limb muscle weakness
Frequent (30-79%)HP:0008959
Proximal muscle weakness in upper limbs
Frequent (30-79%)HP:0008997
Proximal upper limb amyotrophy
Frequent (30-79%)HP:0008948
Decreased body height
Occasional (5-29%)HP:0004322
Hoarse voice due to vocal cord paresis
Occasional (5-29%)HP:0001604
Loss of distal sensation
Occasional (5-29%)HP:0002936
Abducens nerve paralysis
HP:0006897
Cavus foot
HP:0001761
Decreased distal sensory nerve action potential
HP:0007230
Diaphragmatic paraparesis
HP:0009113
Hammertoe
HP:0001765
Hand muscle atrophy
HP:0009130
Hyporeflexia
HP:0001265
Inability to heel walk
HP:0009027
Muscle weakness between ribs
HP:0004878
Noisy breathing
HP:0010307
Obstructive sleep apnea
HP:0002870
Oculomotor neuropathy
HP:0012246
Overactive bladder syndrome
HP:0000012
Respiratory failure
HP:0002878
Sensorineural deafness
HP:0000407
Sensory neuropathy
HP:0000763
Shoulder girdle muscle wasting
HP:0003724
Sloping shoulders
HP:0200021
Urinary incontinence
HP:0000020

Related Conditions

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

Quick Facts

SNOMED CT
717010007
UMLS CUI
C1853710
Fully Specified Name
Autosomal dominant Charcot-Marie-Tooth disease type 2C (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.