Alpha-N-acetylgalactosaminidase deficiency type 3

disorder

SNOMED 880066000CUI C5437471

Overview

Alpha-N-acetylgalactosaminidase deficiency type 3 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.

Autism

Very frequent (80-99%)HP:0000717

Epilepsy

Very frequent (80-99%)HP:0001250

Lens opacities

Very frequent (80-99%)HP:0000518

Mental-retardation

Very frequent (80-99%)HP:0001249

Squint

Very frequent (80-99%)HP:0000486

Cardiomyopathy, hypertrophic

Frequent (30-79%)HP:0001639

Enlarged liver

Frequent (30-79%)HP:0002240

Cognitive delay

HP:0001263

Cortical blindness

HP:0100704

Generalised decreased muscle tone

HP:0001290

Increased reflexes

HP:0001347

Increased urinary O-linked sialopeptides

HP:0003461

Involuntary jerking movements

HP:0001336

Involuntary muscle stiffness, contraction, or spasm

HP:0001257

Involuntary, rapid, rhythmic eye movements

HP:0000639

Mental retardation, severe

HP:0010864

Muscle atrophy, generalised

HP:0003700

Neurodevelopmental regression

HP:0002376

Optic atrophy

HP:0000648

Osteopenia

HP:0000938

Peripheral hypotonia

HP:0001252

Reduced tissue alpha-N-acetylgalactosaminidase activity

HP:4000202

Related Conditions

Schindler disease(parent)

Quick Facts

SNOMED CT: 880066000
UMLS CUI: C5437471
Fully Specified Name: Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.