X-linked parkinsonism with spasticity syndrome

disorder

SNOMED 770757004CUI C3806722

Overview

X-linked parkinsonism with spasticity 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.

Parkinsonian disease

Always present (100%)HP:0001300

Cogwheel rigidity

Very frequent (80-99%)HP:0002396

Decreased facial muscle movement

Very frequent (80-99%)HP:0000338

Parkinsonian tremor

Very frequent (80-99%)HP:0002322

Extensor plantar responses

Frequent (30-79%)HP:0003487

Hyperactive deep tendon reflexes

Frequent (30-79%)HP:0006801

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Slowness of movements

Frequent (30-79%)HP:0002067

Ankle clonus

Occasional (5-29%)HP:0011448

Diffuse cerebral atrophy

Occasional (5-29%)HP:0002506

Dilatation of lateral cerebral ventricles

Occasional (5-29%)HP:0006956

Dilated third ventricle

Occasional (5-29%)HP:0007082

Epilepsy

Occasional (5-29%)HP:0001250

Mask-like facies

Occasional (5-29%)HP:0000298

Scissor gait

Occasional (5-29%)HP:0012407

Spastic paraparesis

Occasional (5-29%)HP:0002313

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Disease of skeletal muscle(parent)

Parkinsonism(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 770757004
UMLS CUI: C3806722
Fully Specified Name: X-linked parkinsonism with spasticity syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.