← Back to Conditions
STT3A-CDG (congenital disorder of glycosylation)
disorderSNOMED 733111000CUI C3810062
Overview
STT3A-CDG (congenital disorder of glycosylation) 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.
Abnormal glycosylation
Always present (100%)HP:0012345
Decreased size of cranium
Always present (100%)HP:0000252
Epilepsy
Always present (100%)HP:0001250
Feeding difficulties
Always present (100%)HP:0011968
Generalised decreased muscle tone
Always present (100%)HP:0001290
Infratentorial atrophy
Always present (100%)HP:0001272
Low intelligence
Always present (100%)HP:0001249
Poor weight gain
Always present (100%)HP:0001508
Psychomotor development deficiency
Always present (100%)HP:0001263
Abnormal visual pursuit
Frequent (30-79%)HP:0007772
Cryptorchidism
Frequent (30-79%)HP:0000028
Short penis
Frequent (30-79%)HP:0000054
Smaller than typical growth of scrotum
Frequent (30-79%)HP:0000046
Quick Facts
- SNOMED CT
- 733111000
- UMLS CUI
- C3810062
- Fully Specified Name
- Congenital disorder of glycosylation type 1w (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
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.