X-linked spasticity, intellectual disability, epilepsy syndrome

disorder

SNOMED 725163002CUI C4510949

Overview

X-linked spasticity, intellectual disability, epilepsy 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.

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Mental deficiency

Very frequent (80-99%)HP:0001249

Muscle rigidity

Very frequent (80-99%)HP:0002063

Muscle stiffness

Very frequent (80-99%)HP:0003552

Paralysis on one side of body

Very frequent (80-99%)HP:0002301

Prolonged seizure

Very frequent (80-99%)HP:0002133

Spasticity and rigidity of muscles

Very frequent (80-99%)HP:0001276

Related Conditions

Disease of skeletal muscle(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

DEE - developmental and epileptic encephalopathy(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 725163002
UMLS CUI: C4510949
Fully Specified Name: X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.