Early onset parkinsonism and intellectual disability syndrome

disorder

SNOMED 716107009CUI C0796195

Overview

Early onset parkinsonism and intellectual disability 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

Parkinsonism with favorable response to dopaminergic medication

Always present (100%)HP:0002548

Slowness of movements

Always present (100%)HP:0002067

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Abnormality of movement

Very frequent (80-99%)HP:0100022

Big calvaria

Very frequent (80-99%)HP:0000256

Muscle rigidity

Very frequent (80-99%)HP:0002063

Parkinsonian tremor

Very frequent (80-99%)HP:0002322

Poor school performance

Very frequent (80-99%)HP:0001249

Epilepsy

Frequent (30-79%)HP:0001250

Postural instability

Frequent (30-79%)HP:0002172

Squint

Frequent (30-79%)HP:0000486

Mental retardation, mild

Occasional (5-29%)HP:0001256

Progressive dementia

Occasional (5-29%)HP:0000726

Cogwheel rigidity

HP:0002396

Difficulty articulating speech

HP:0001260

Dyskinesia

HP:0100660

Enlarged brain

HP:0001355

Frontal protuberance

HP:0002007

Lewy bodies

HP:0100315

Mental and motor retardation

HP:0001263

Problems speaking

HP:0002465

Shuffled walk

HP:0002362

Related Conditions

Young onset Parkinson disease(parent)

Developmental hereditary disorder(parent)

Hereditary degenerative disease of central nervous system(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 716107009
UMLS CUI: C0796195
Fully Specified Name: Early onset parkinsonism and intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.