Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Low APGAR score
Very frequent (80-99%)HP:0030917
Low one-minute APGAR score
Very frequent (80-99%)HP:0030918
Respiratory distress, neonatal
Very frequent (80-99%)HP:0002643
Type 1 fibres relatively smaller than type 2 fibres
Very frequent (80-99%)HP:0003755
Abnormal eye
Frequent (30-79%)HP:0000478
Arachnodactyly
Frequent (30-79%)HP:0001166
Areflexia
Frequent (30-79%)HP:0001284
Caesarean section
Frequent (30-79%)HP:0011410
Central nuclei
Frequent (30-79%)HP:0003687
Cryptorchidism
Frequent (30-79%)HP:0000028
Fatigable weakness of bulbar muscles
Frequent (30-79%)HP:0030192
Fatigable weakness of swallowing muscles
Frequent (30-79%)HP:0030195
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Foetal overgrowth
Frequent (30-79%)HP:0003517
Hydramnios
Frequent (30-79%)HP:0001561
Hypotonia, in neonatal onset
Frequent (30-79%)HP:0001319
Laboured breathing
Frequent (30-79%)HP:0002098
Less than 10 fetal movements in 12 hours
Frequent (30-79%)HP:0001558
Low 5-minute APGAR score
Frequent (30-79%)HP:0030919
Necklace skeletal muscle fibers
Frequent (30-79%)HP:0031238
Pneumonia
Frequent (30-79%)HP:0002090
Poor sucking
Frequent (30-79%)HP:0002033
Premature birth
Frequent (30-79%)HP:0001622
Respiratory distress requiring endotracheal intubation
Frequent (30-79%)HP:0004887
respiratory infections, recurrent
Frequent (30-79%)HP:0002205
Severe muscular hypotonia
Frequent (30-79%)HP:0006829
Weakness of face
Frequent (30-79%)HP:0030319
Dolichocephaly
Occasional (5-29%)HP:0000268
Dysmorphic facies
Occasional (5-29%)HP:0001999
Elevated liver enzymes
Occasional (5-29%)HP:0002910
Quick Facts
- SNOMED CT
- 46804001
- UMLS CUI
- C0410203
- Fully Specified Name
- Severe X-linked myotubular myopathy (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.