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Episodic ataxia type 6

disorder
SNOMED 718753002CUI C2675211

Overview

Episodic ataxia type 6 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.

Episodic generalised hypotonia
Always present (100%)HP:0006852
Hemiparesis
Always present (100%)HP:0001269
Instability or lack of coordination of central trunk muscles
Always present (100%)HP:0002078
Paroxysmal ataxia
Always present (100%)HP:0002131
Ataxia
Very frequent (80-99%)HP:0001251
Dizziness
Very frequent (80-99%)HP:0002321
Nausea and vomiting
Very frequent (80-99%)HP:0002017
Decreased visual acuity
Occasional (5-29%)HP:0007663
Degeneration of cerebellum
Occasional (5-29%)HP:0001272
Double vision
Occasional (5-29%)HP:0000651
Gaze-evoked nystagmus
Occasional (5-29%)HP:0000640
Headache
Occasional (5-29%)HP:0002315
Hypometric saccades
Occasional (5-29%)HP:0000571
Intermittent migraine headaches
Occasional (5-29%)HP:0002076
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Paralysis on one side of body
Occasional (5-29%)HP:0002301
Seizures
Occasional (5-29%)HP:0001250
Slurred speech
Occasional (5-29%)HP:0001350
Difficulty articulating speech
HP:0001260
Nausea
HP:0002018
No development of motor milestones
HP:0001270
Phonophobia
HP:0002183
Photophobia
HP:0000613
Small cerebellum
HP:0001321
Vomiting
HP:0002013

Quick Facts

SNOMED CT
718753002
UMLS CUI
C2675211
Fully Specified Name
Episodic ataxia type 6 (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
25
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.