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Congenital disorder of glycosylation type Ix
disorderSNOMED 733112007CUI C2931007
Overview
Congenital disorder of glycosylation type Ix 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
Cognitive delay
Always present (100%)HP:0001263
Decreased size of cranium
Always present (100%)HP:0000252
Degeneration of cerebellum
Always present (100%)HP:0001272
Epilepsy
Always present (100%)HP:0001250
Feeding difficulties
Always present (100%)HP:0011968
Generalised decreased muscle tone
Always present (100%)HP:0001290
Low intelligence
Always present (100%)HP:0001249
Muscular hypotonia
Always present (100%)HP:0001252
Poor weight gain
Always present (100%)HP:0001508
Abnormality of the reproductive system
Frequent (30-79%)HP:0000078
Cryptorchidism
Frequent (30-79%)HP:0000028
Laboured breathing
Frequent (30-79%)HP:0002098
Optic atrophy
Frequent (30-79%)HP:0000648
Short penis
Frequent (30-79%)HP:0000054
Small for gestational age infant
Frequent (30-79%)HP:0001511
Smaller than typical growth of scrotum
Frequent (30-79%)HP:0000046
Thrombocytopenia
Frequent (30-79%)HP:0001873
Quick Facts
- SNOMED CT
- 733112007
- UMLS CUI
- C2931007
- Fully Specified Name
- Congenital disorder of glycosylation type 1x (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.