PRICKLE1-related progressive myoclonic epilepsy with ataxia

disorder

SNOMED 702326000CUI C2676254

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Ataxia

HP:0001251

Difficulty articulating speech

HP:0001260

Drop attacks

HP:0010819

Dysmetria

HP:0001310

Extensor plantar responses

HP:0003487

Generalized myoclonic seizure

HP:0002123

Jerking

HP:0001336

Sensory axonal neuropathy

HP:0003390

Tremor

HP:0001337

Related Conditions

Progressive myoclonic epilepsy(parent)

Hereditary disorder of nervous system(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 702326000
UMLS CUI: C2676254
Fully Specified Name: Progressive myoclonus epilepsy with ataxia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.