Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome

disorder

SNOMED 782945001CUI C5190740

Overview

Ophthalmoplegia, intellectual disability, lingua scrotalis 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.

Abnormality of RPE

Very frequent (80-99%)HP:0007703

Extraocular muscle palsy

Very frequent (80-99%)HP:0000597

Eye muscle paralysis

Very frequent (80-99%)HP:0000602

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Lingua plicata

Very frequent (80-99%)HP:0000221

Mental-retardation

Very frequent (80-99%)HP:0001249

Oculomotor neuropathy

Very frequent (80-99%)HP:0012246

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Specific learning disability

Very frequent (80-99%)HP:0001328

Facial muscle weakness of muscles innervated by CN VII

Frequent (30-79%)HP:0010628

Near sighted

Frequent (30-79%)HP:0000545

Abnormal ERG

Occasional (5-29%)HP:0000512

Paralysis on one side of body

Occasional (5-29%)HP:0002301

Related Conditions

Congenital plicated tongue(parent)

External ophthalmoplegia(parent)

Congenital nuclear ophthalmoplegia(parent)

Multiple system malformation syndrome(parent)

Combined malformation of central nervous system and skeletal muscle(parent)

Paralysis of tongue(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 782945001
UMLS CUI: C5190740
Fully Specified Name: Ophthalmoplegia, intellectual disability, lingua scrotalis 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.