Goniodysgenesis with intellectual disability and short stature syndrome

disorder

SNOMED 716024001CUI C1841854

Overview

Goniodysgenesis with intellectual disability and short stature 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.

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Dull intelligence

Very frequent (80-99%)HP:0001249

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Rieger anomaly

Very frequent (80-99%)HP:0000558

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Low-set ears

Frequent (30-79%)HP:0000369

Preauricular earpits

Frequent (30-79%)HP:0004467

Premature birth

Frequent (30-79%)HP:0001622

Respiratory insufficiency

Frequent (30-79%)HP:0002093

Tricuspid regurgitation

Frequent (30-79%)HP:0005180

Related Conditions

Autosomal dominant hereditary disorder(parent)

Small stature(parent)

Goniodysgenesis(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 716024001
UMLS CUI: C1841854
Fully Specified Name: Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.