X-linked intellectual disability Stoll type

disorder

SNOMED 718911005CUI C4305075

Overview

X-linked intellectual disability Stoll 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.

Broad, upturned nose

Frequent (30-79%)HP:0000455

Curvature of little finger

Frequent (30-79%)HP:0004209

Decreased body height

Frequent (30-79%)HP:0004322

Frontal protuberance

Frequent (30-79%)HP:0002007

Hairline point

Frequent (30-79%)HP:0000349

Hypotrophic bridge of nose

Frequent (30-79%)HP:0005281

Hypotrophic malar bone

Frequent (30-79%)HP:0000272

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased length of philtrum

Frequent (30-79%)HP:0000343

Large forehead

Frequent (30-79%)HP:0002003

Low intelligence

Frequent (30-79%)HP:0001249

Nostrils anteverted

Frequent (30-79%)HP:0000463

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 718911005
UMLS CUI: C4305075
Fully Specified Name: X-linked intellectual disability Stoll type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.