X-linked intellectual disability with acromegaly and hyperactivity syndrome

disorder

SNOMED 719826004CUI C4304407

Overview

X-linked intellectual disability with acromegaly and hyperactivity 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.

Abnormal pons morphology

Frequent (30-79%)HP:0007361

Decreased serum insulin-like growth factor 1

Frequent (30-79%)HP:0030353

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Elevated circulating growth hormone concentration

Frequent (30-79%)HP:0000845

Epidural arachnoid cysts of the spinal canal

Frequent (30-79%)HP:0009745

Hyperactive behaviour

Frequent (30-79%)HP:0000752

Increased nasal height

Frequent (30-79%)HP:0003189

Inverted triangular face

Frequent (30-79%)HP:0000325

IQ less than 20

Frequent (30-79%)HP:0002187

Large testis

Frequent (30-79%)HP:0000053

physical aggression

Frequent (30-79%)HP:0000718

Related Conditions

Acromegaly(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719826004
UMLS CUI: C4304407
Fully Specified Name: X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.