Overview
COG8 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.
4th toe clinodactyly
Always present (100%)HP:0011918
Abnormal brain lactate level by MRS
Always present (100%)HP:0025045
Absence of corpus callosum
Always present (100%)HP:0001274
Bilateral coxa valga
Always present (100%)HP:0010665
Cerebellar vermis aplasia
Always present (100%)HP:0002335
Curvature of 3rd toe
Always present (100%)HP:0008115
Dandy-Walker cyst
Always present (100%)HP:0001305
Decreased projection of lower jaw
Always present (100%)HP:0000347
Decreased size of cranium
Always present (100%)HP:0000252
Defective or absent horizontal voluntary eye movements
Always present (100%)HP:0000657
Dysmetria
Always present (100%)HP:0001310
Elevated serum aspartate aminotransferase
Always present (100%)HP:0031956
Elevated serum creatine phosphokinase
Always present (100%)HP:0003236
Elevated serum transaminases during infections
Always present (100%)HP:0008150
Inactivity
Always present (100%)HP:0001254
Interface hepatitis
Always present (100%)HP:0032220
Mental and motor retardation
Always present (100%)HP:0001263
Muscular hypotonia
Always present (100%)HP:0001252
No speech development
Always present (100%)HP:0001344
Postnatal microcephaly
Always present (100%)HP:0005484
Reduced protein S activity
Always present (100%)HP:0004855
Type II transferrin isoform profile
Always present (100%)HP:0012301
Absent Achilles reflex
Frequent (30-79%)HP:0003438
Action myoclonus
Frequent (30-79%)HP:0034360
Ataxia
Frequent (30-79%)HP:0001251
Chronic axonal neuropathy
Frequent (30-79%)HP:0007267
Claw hand deformity
Frequent (30-79%)HP:0034337
Coxa valga deformity
Frequent (30-79%)HP:0002673
Delay in head control
Frequent (30-79%)HP:0002421
Difficulty speaking
Frequent (30-79%)HP:0002465
Quick Facts
- SNOMED CT
- 717774004
- UMLS CUI
- C1970021
- Fully Specified Name
- Component of oligomeric golgi complex 8 congenital disorder of glycosylation (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.