Childhood-onset basal ganglia degeneration syndrome

disorder

SNOMED 1172584005CUI C4310743

Overview

Childhood-onset basal ganglia degeneration 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.

Dystonic disease

Always present (100%)HP:0001332

Loss of ambulation

Always present (100%)HP:0002505

Spasticity and rigidity of muscles

Always present (100%)HP:0001276

Unsteady walk

Always present (100%)HP:0002317

Ankle clonus

Frequent (30-79%)HP:0011448

Drooling

Frequent (30-79%)HP:0002307

Elevated circulating creatine phosphokinase

Frequent (30-79%)HP:0003236

Excessive salivation

Frequent (30-79%)HP:0003781

Increased lumbar lordosis

Frequent (30-79%)HP:0002938

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Steppage gait

Frequent (30-79%)HP:0003376

Deglutition disorder

HP:0002015

Distorted craniofacial posture

HP:0012179

Increased reflexes

HP:0001347

Loss of milestones

HP:0002376

Speech difficulties

HP:0000750

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Dystonia(parent)

Cerebral degeneration in childhood(parent)

Disorder of basal ganglia(parent)

Chronic brain syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1172584005
UMLS CUI: C4310743
Fully Specified Name: Childhood-onset basal ganglia degeneration syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.