X-linked intellectual disability Wilson type

disorder

SNOMED 719009006CUI C4305028

Overview

X-linked intellectual disability Wilson type 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.

Abnormal location of hair swirl

Frequent (30-79%)HP:0010814

Enlarged mandible

Frequent (30-79%)HP:0000303

Epilepsy

Frequent (30-79%)HP:0001250

Growth failure

Frequent (30-79%)HP:0001510

Large mouth

Frequent (30-79%)HP:0000154

Mental retardation, severe

Frequent (30-79%)HP:0010864

Mutism

Frequent (30-79%)HP:0002300

Predisposition to infections

Frequent (30-79%)HP:0002719

Prominent lips

Frequent (30-79%)HP:0012471

Short and broad skull

Frequent (30-79%)HP:0000248

Square facies

Frequent (30-79%)HP:0000321

Decreased size of cranium

Occasional (5-29%)HP:0000252

Delayed myelination

Occasional (5-29%)HP:0012448

Dilatation of lateral cerebral ventricles

Occasional (5-29%)HP:0006956

Hydrocele testis

Occasional (5-29%)HP:0000034

Inguinal hernia

Occasional (5-29%)HP:0000023

Related Conditions

X-linked hereditary disease(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719009006
UMLS CUI: C4305028
Fully Specified Name: X-linked intellectual disability Wilson type (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.