Huntington disease-like syndrome due to C9ORF72 expansions

disorder

SNOMED 782743001CUI C5190586

Overview

Huntington disease-like syndrome due to C9ORF72 expansions 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.

Ataxia

Frequent (30-79%)HP:0001251

Choreiform movements

Frequent (30-79%)HP:0002072

Inappropriate behavior

Frequent (30-79%)HP:0000719

Intellectual impairment

Frequent (30-79%)HP:0100543

Memory loss

Frequent (30-79%)HP:0002354

Muscle rigidity

Frequent (30-79%)HP:0002063

Depression

Occasional (5-29%)HP:0000716

Dystonic disease

Occasional (5-29%)HP:0001332

Excessive, persistent worry and fear

Occasional (5-29%)HP:0000739

Parkinsonian disease

Occasional (5-29%)HP:0001300

Psychosis

Occasional (5-29%)HP:0000709

Pyramidal tract dysfunction

Occasional (5-29%)HP:0002493

Tremor

Occasional (5-29%)HP:0001337

Involuntary jerking movements

Very rare (1-4%)HP:0001336

Related Conditions

Autosomal dominant hereditary disorder(parent)

Huntington disease phenocopy syndrome(parent)

Cerebral degeneration(parent)

Hereditary degenerative disease of central nervous system(parent)

Quick Facts

SNOMED CT: 782743001
UMLS CUI: C5190586
Fully Specified Name: Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.