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Spastic paraplegia, glaucoma, intellectual disability syndrome

disorder
SNOMED 733455003CUI C4518786

Overview

Spastic paraplegia, glaucoma, 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.

Glaucoma
Very frequent (80-99%)HP:0000501
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Leg paralysis
Very frequent (80-99%)HP:0010550
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249

Related Conditions

Complicated hereditary spastic paraplegia(parent)
Hereditary disorder of the visual system(parent)
Developmental hereditary disorder(parent)
Autosomal recessive hereditary spastic paraplegia(parent)
Glaucoma(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
733455003
UMLS CUI
C4518786
Fully Specified Name
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
4
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.