Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Generalised decreased muscle tone
Always present (100%)HP:0001290
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Increased level of galactitol in plasma
Always present (100%)HP:0410061
Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity
Always present (100%)HP:4000208
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Abnormal erythrocyte enzyme concentration or activity
Very frequent (80-99%)HP:0030272
Brain and/or spinal cord issue
Very frequent (80-99%)HP:0000707
Male infertility
Very frequent (80-99%)HP:0003251
Abnormality of coagulation
Frequent (30-79%)HP:0001928
Alanine aminotransferase increased
Frequent (30-79%)HP:0031964
Ataxic tremor
Frequent (30-79%)HP:0002345
Cognitive delay
Frequent (30-79%)HP:0001263
Decreased fertility in females
Frequent (30-79%)HP:0000868
Decreased serum insulin-like growth factor 1
Frequent (30-79%)HP:0030353
Deficit in grammar
Frequent (30-79%)HP:0006977
Delayed puberty
Frequent (30-79%)HP:0000823
Elevated liver enzymes
Frequent (30-79%)HP:0002910
Elevated serum aspartate aminotransferase
Frequent (30-79%)HP:0031956
Enlarged liver
Frequent (30-79%)HP:0002240
Food intolerance
Frequent (30-79%)HP:0012537
Galactosemia
Frequent (30-79%)HP:0012024
Hepatic insufficiency
Frequent (30-79%)HP:0001399
Intellectual deterioration
Frequent (30-79%)HP:0001268
Lens opacities
Frequent (30-79%)HP:0000518
Light or infrequent menstrual periods
Frequent (30-79%)HP:0000876
Mental retardation, mild
Frequent (30-79%)HP:0001256
Postural tremor
Frequent (30-79%)HP:0002174
Premature menopause
Frequent (30-79%)HP:0008209
Previous menstrual periods stop
Frequent (30-79%)HP:0000869
Primary amenorrhea
Frequent (30-79%)HP:0000786
Related Conditions
Quick Facts
- SNOMED CT
- 124354006
- UMLS CUI
- C0268151
- Fully Specified Name
- Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.