Megalocornea with intellectual disability syndrome

disorder

SNOMED 733522005CUI C0796086

Overview

Megalocornea with intellectual disability 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 vocalization

Very frequent (80-99%)HP:0002167

Abnormality of immune system physiology

Very frequent (80-99%)HP:0010978

Cognitive delay

Very frequent (80-99%)HP:0001263

Decreased projection of lower jaw

Very frequent (80-99%)HP:0000347

Frontal protuberance

Very frequent (80-99%)HP:0002007

Increased corneal diameter

Very frequent (80-99%)HP:0000485

Mental-retardation

Very frequent (80-99%)HP:0001249

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Anterior chamber anomalies

Frequent (30-79%)HP:0000593

Corneal arcus

Frequent (30-79%)HP:0001084

Decreased body height

Frequent (30-79%)HP:0004322

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Genua vara

Frequent (30-79%)HP:0002970

High arched palate

Frequent (30-79%)HP:0000218

Hunched back

Frequent (30-79%)HP:0002808

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Iris hypoplasia

Frequent (30-79%)HP:0007676

Iris transillumination defect

Frequent (30-79%)HP:0012805

Joint ligamentous laxity

Frequent (30-79%)HP:0001382

Metatarsus valgus

Frequent (30-79%)HP:0010508

Palpebronasal fold

Frequent (30-79%)HP:0000286

Scoliosis

Frequent (30-79%)HP:0002650

Slack jawed appearance

Frequent (30-79%)HP:0000194

Stimming

Frequent (30-79%)HP:0000733

Tapering fingers

Frequent (30-79%)HP:0001182

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Ataxia

Occasional (5-29%)HP:0001251

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Eclabium of lower lip

Occasional (5-29%)HP:0000232

Related Conditions

Multiple system malformation syndrome(parent)

Megalocornea(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 733522005
UMLS CUI: C0796086
Fully Specified Name: Megalocornea with intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.