Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome

disorder

SNOMED 763136000CUI C4706301

Overview

Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome 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

Very frequent (80-99%)HP:0007078

Decreased nerve conduction velocity

Very frequent (80-99%)HP:0000762

Loss of large myelinated fibres

Very frequent (80-99%)HP:0003387

Lower limb amyotrophy

Very frequent (80-99%)HP:0007210

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Nerve damage causing decreased feeling and movement

Very frequent (80-99%)HP:0007141

Severe sensorineural deafness

Very frequent (80-99%)HP:0008625

Abnormal peripheral nerve transmission

Frequent (30-79%)HP:0003134

Absent Achilles reflex

Frequent (30-79%)HP:0003438

Amyotrophy involving the upper limbs

Frequent (30-79%)HP:0009129

Amyotrophy of ankle musculature

Frequent (30-79%)HP:0009031

Areflexia in lower limbs

Frequent (30-79%)HP:0002522

Decreased vibration sense in feet

Frequent (30-79%)HP:0006938

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Distal muscle weakness in lower limbs

Frequent (30-79%)HP:0009053

Distal sensory impairment of all modalities

Frequent (30-79%)HP:0003409

Distal upper limb muscle weakness

Frequent (30-79%)HP:0008959

Failure to thrive in first year of life

Frequent (30-79%)HP:0001531

Hypoplastic calf muscles

Frequent (30-79%)HP:0008962

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Inability to heel walk

Frequent (30-79%)HP:0009027

Intrinsic hand muscle atrophy

Frequent (30-79%)HP:0008954

Lower limb atrophy

Frequent (30-79%)HP:0008944

No speech development

Frequent (30-79%)HP:0001344

Pes cavus

Frequent (30-79%)HP:0001761

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Areflexia of upper limbs

Occasional (5-29%)HP:0012046

Pain

Occasional (5-29%)HP:0012531

Respiratory insufficiency

Occasional (5-29%)HP:0002093

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Hereditary motor and sensory neuropathy(parent)

Congenital sensorineural hearing loss(parent)

Disorder of ear(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 763136000
UMLS CUI: C4706301
Fully Specified Name: Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.