Myoclonus, cerebellar ataxia, deafness syndrome

disorder

SNOMED 733065003CUI C4518566

Overview

Myoclonus, cerebellar ataxia, deafness 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.

Areflexia in lower limbs

Frequent (30-79%)HP:0002522

Bilateral nerve deafness

Frequent (30-79%)HP:0008619

Difficulty articulating speech

Frequent (30-79%)HP:0001260

EMG: neuropathic changes

Frequent (30-79%)HP:0003445

Gait ataxia, progressive

Frequent (30-79%)HP:0007240

Involuntary jerking movements

Frequent (30-79%)HP:0001336

Muscle atrophy, generalised

Frequent (30-79%)HP:0003700

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Progressive cerebellar ataxia

Frequent (30-79%)HP:0002073

Terminal tremor

Frequent (30-79%)HP:0002080

Related Conditions

Autosomal dominant hereditary disorder(parent)

Extrapyramidal disease(parent)

Cerebellar ataxia(parent)

Myoclonic disorder(parent)

Hearing loss associated with syndrome(parent)

Hereditary ataxia(parent)

Congenital sensorineural hearing loss(parent)

Disorder of ear(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 733065003
UMLS CUI: C4518566
Fully Specified Name: Myoclonus, cerebellar ataxia, deafness syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.