X-linked intellectual disability with ataxia and apraxia syndrome

disorder

SNOMED 718845002CUI C4305139

Overview

X-linked intellectual disability with ataxia and apraxia 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.

Apraxia

Very frequent (80-99%)HP:0002186

Ataxia

Very frequent (80-99%)HP:0001251

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Epilepsy

Frequent (30-79%)HP:0001250

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Hereditary ataxia(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 718845002
UMLS CUI: C4305139
Fully Specified Name: X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 5

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.