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Congenital disorder of glycosylation type Is
disorderSNOMED 733451007CUI C4317295
Overview
Congenital disorder of glycosylation type Is 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.
Bleeding tendency
Always present (100%)HP:0001892
Coarse face
Always present (100%)HP:0000280
Cobb angle greater than ten degrees
Always present (100%)HP:0002650
Corticospinal signs
Always present (100%)HP:0007256
Decreased size of cranium
Always present (100%)HP:0000252
Degeneration of cerebrum
Always present (100%)HP:0002059
Delayed CNS myelination
Always present (100%)HP:0002188
Disproportionately small hands
Always present (100%)HP:0200055
Enlarged liver
Always present (100%)HP:0002240
Epilepsy
Always present (100%)HP:0001250
Extrapyramidal syndrome
Always present (100%)HP:0002071
Feeding difficulties
Always present (100%)HP:0011968
Flexion contractures
Always present (100%)HP:0001371
Horizontal nystagmus
Always present (100%)HP:0000666
Infantile spasms
Always present (100%)HP:0012469
Large head
Always present (100%)HP:0000256
Low-set ears
Always present (100%)HP:0000369
Mental and motor retardation
Always present (100%)HP:0001263
Mental retardation, severe
Always present (100%)HP:0010864
Muscular hypotonia
Always present (100%)HP:0001252
Nonsyndromal hydrocephalus
Always present (100%)HP:0000238
Optic atrophy
Always present (100%)HP:0000648
Predisposition to infections
Always present (100%)HP:0002719
Prolonged activated partial thromboplastin time
Always present (100%)HP:0003645
Retromicrognathia
Always present (100%)HP:0000308
Self-mutilation
Always present (100%)HP:0000742
Trouble sleeping
Always present (100%)HP:0002360
Type I transferrin isoform profile
Always present (100%)HP:0003642
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Hypsarrhythmia by EEG
Frequent (30-79%)HP:0002521
Quick Facts
- SNOMED CT
- 733451007
- UMLS CUI
- C4317295
- Fully Specified Name
- Congenital disorder of glycosylation type 1s (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.