Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cognitive delay
Always present (100%)HP:0001263
Delayed gross motor development
Always present (100%)HP:0002194
Hypergalactosemia
Always present (100%)HP:0012024
Speech delay
Always present (100%)HP:0000750
Aminoaciduria
Very frequent (80-99%)HP:0003355
Enlarged liver
Very frequent (80-99%)HP:0002240
Feeding difficulties
Very frequent (80-99%)HP:0011968
Impaired galactose metabolism
Very frequent (80-99%)HP:0004915
Large spleen
Very frequent (80-99%)HP:0001744
Lens opacities
Very frequent (80-99%)HP:0000518
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Nausea and vomiting
Very frequent (80-99%)HP:0002017
Retarded growth
Very frequent (80-99%)HP:0001510
Weight loss
Very frequent (80-99%)HP:0001824
Yellowing of the skin
Very frequent (80-99%)HP:0000952
Beta-galactosidase-1 deficiency
Excluded (<1%)HP:0008166
Galactosuria
HP:0012023
Generalised decreased muscle tone
HP:0001290
Low intelligence
HP:0001249
Poor weight gain
HP:0001508
Sensorineural deafness
HP:0000407
Vomiting
HP:0002013
Quick Facts
- SNOMED CT
- 8849004
- UMLS CUI
- C0751161
- Fully Specified Name
- Uridine diphosphate glucose-4-epimerase deficiency (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.