Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Less than 10 fetal movements in 12 hours
Always present (100%)HP:0001558
Abnormal cardiomyocyte morphology
Very frequent (80-99%)HP:0031331
Abnormal muscle glycogen content
Very frequent (80-99%)HP:0012269
Abnormal neuronal branching
Very frequent (80-99%)HP:0500032
Decreased liver function
Very frequent (80-99%)HP:0001410
Enlarged liver
Very frequent (80-99%)HP:0002240
Generalized abnormality of skin
Very frequent (80-99%)HP:0011354
Bradycardia
Frequent (30-79%)HP:0001662
Central hypotonia
Frequent (30-79%)HP:0001252
Elevated liver enzymes
Frequent (30-79%)HP:0002910
Fetal foot inversion
Frequent (30-79%)HP:0001762
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Hypoalbuminaemia
Frequent (30-79%)HP:0003073
Hyporeflexia
Frequent (30-79%)HP:0001265
Myopathy
Frequent (30-79%)HP:0003198
No development of motor milestones
Frequent (30-79%)HP:0001270
Poor weight gain
Frequent (30-79%)HP:0001508
Stretched and thinned heart muscle
Frequent (30-79%)HP:0001644
Ascites
Occasional (5-29%)HP:0001541
Cirrhosis
Occasional (5-29%)HP:0001394
Early severe foetal akinesia sequence
Occasional (5-29%)HP:0001989
Esophageal varix
Occasional (5-29%)HP:0002040
Flexion contractures
Occasional (5-29%)HP:0001371
Heart failure
Occasional (5-29%)HP:0001635
Hepatosplenomegaly
Occasional (5-29%)HP:0001433
Hydramnios
Occasional (5-29%)HP:0001561
Laboured breathing
Occasional (5-29%)HP:0002098
Low factor II activity
Occasional (5-29%)HP:0008151
Muscle degeneration
Occasional (5-29%)HP:0003202
Nonimmune hydrops fetalis
Occasional (5-29%)HP:0001790
Related Conditions
Quick Facts
- SNOMED CT
- 124267007
- UMLS CUI
- C0017923
- Fully Specified Name
- Deficiency of 1,4-alpha-glucan branching enzyme (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.