Encephalopathy due to prosaposin deficiency

disorder

SNOMED 720864008CUI C4303785

Overview

Encephalopathy due to prosaposin deficiency 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.

Central hypotonia

Very frequent (80-99%)HP:0001252

Dystonic movements

Very frequent (80-99%)HP:0001332

Enlarged liver

Very frequent (80-99%)HP:0002240

Eye movement issue

Very frequent (80-99%)HP:0000496

Generalized tonic-clonic seizure (without specification of onset)

Very frequent (80-99%)HP:0002069

Involuntary jerking movements

Very frequent (80-99%)HP:0001336

Large spleen

Very frequent (80-99%)HP:0001744

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Respiratory insufficiency

Very frequent (80-99%)HP:0002093

Related Conditions

Encephalopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Inherited metabolic disorder of nervous system(parent)

Sphingolipidosis(parent)

Quick Facts

SNOMED CT: 720864008
UMLS CUI: C4303785
Fully Specified Name: Encephalopathy due to prosaposin deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.