Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Deafness
Very frequent (80-99%)HP:0000365
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Legal blindness
Very frequent (80-99%)HP:0000618
Loss of acquired milestones
Very frequent (80-99%)HP:0002376
Mental deficiency
Very frequent (80-99%)HP:0001249
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Oligosacchariduria
Very frequent (80-99%)HP:0010471
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Cataract
Frequent (30-79%)HP:0000518
Cerebral cortex atrophy
Frequent (30-79%)HP:0002120
Clonus
Frequent (30-79%)HP:0002169
Coarse face
Frequent (30-79%)HP:0000280
Epilepsy
Frequent (30-79%)HP:0001250
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Neuropathy
Frequent (30-79%)HP:0009830
Quadriplegia
Frequent (30-79%)HP:0002445
Small cerebellum
Frequent (30-79%)HP:0001321
Vascular skin abnormality
Frequent (30-79%)HP:0011276
Vertigo
Frequent (30-79%)HP:0002321
Autism
Occasional (5-29%)HP:0000717
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Constipation
Occasional (5-29%)HP:0002019
Gastroesophageal reflux disease
Occasional (5-29%)HP:0002020
Increased heart size
Occasional (5-29%)HP:0001640
Lymphoedema
Occasional (5-29%)HP:0001004
Pneumonia, recurrent
Occasional (5-29%)HP:0006532
Prominent lips
Occasional (5-29%)HP:0012471
Squint
Occasional (5-29%)HP:0000486
Quick Facts
- SNOMED CT
- 238048001
- UMLS CUI
- C5848084
- Fully Specified Name
- Alpha-N-acetylgalactosaminidase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.