Spastic paraparesis, cataracts, speech delay syndrome

disorder

SNOMED 1360070001CUI C5543440

Overview

Spastic paraparesis, cataracts, speech delay 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.

Cataract

Always present (100%)HP:0000518

Delayed ability to walk

Always present (100%)HP:0031936

Spastic paraparesis

Always present (100%)HP:0002313

Delayed language development

Very frequent (80-99%)HP:0000750

Chronic constipation

Frequent (30-79%)HP:0012450

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Truncal hypotonia

Frequent (30-79%)HP:0008936

Complex febrile seizures

Occasional (5-29%)HP:0011172

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Generalized non-motor (absence) seizure

Occasional (5-29%)HP:0002121

Impaired executive functioning

Occasional (5-29%)HP:0033051

Large head

Occasional (5-29%)HP:0000256

Localized motor seizures

Occasional (5-29%)HP:0011153

Related Conditions

Autosomal dominant complex hereditary spastic paraplegia(parent)

Inherited metabolic disorder of nervous system(parent)

Chronic metabolic disease(parent)

Developmental delay(parent)

Disorder of lipid metabolism(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Bilateral cataracts(parent)

Quick Facts

SNOMED CT: 1360070001
UMLS CUI: C5543440
Fully Specified Name: Spastic paraparesis, cataracts, speech delay 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.