Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Atony of facial musculature
Very frequent (80-99%)HP:0000297
Big calvaria
Very frequent (80-99%)HP:0000256
Mental slowness
Very frequent (80-99%)HP:0031843
Tented upper lip
Very frequent (80-99%)HP:0010804
Apraxia of speech
Frequent (30-79%)HP:0011098
Bundle branch block
Frequent (30-79%)HP:0011710
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Congenital hypotonia
Frequent (30-79%)HP:0001319
Delayed relaxation of muscle fibres after contraction
Frequent (30-79%)HP:0002486
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Fine motor skill dysfunction
Frequent (30-79%)HP:0007010
First degree atrioventricular block
Frequent (30-79%)HP:0011705
Poor attention span
Frequent (30-79%)HP:0000736
Premature birth
Frequent (30-79%)HP:0001622
Respiratory distress, neonatal
Frequent (30-79%)HP:0002643
Talipes foot deformities
Frequent (30-79%)HP:0001883
ASD
Occasional (5-29%)HP:0000729
Decreased fetal movement
Occasional (5-29%)HP:0001558
Deglutition disorder
Occasional (5-29%)HP:0002015
Delayed language development
Occasional (5-29%)HP:0000750
Diarrhea
Occasional (5-29%)HP:0002014
Dyschezia
Occasional (5-29%)HP:0002019
Enuresis
Occasional (5-29%)HP:0000805
Gastro pain
Occasional (5-29%)HP:0002027
Gastroesophageal reflux disease
Occasional (5-29%)HP:0002020
Heart septal defect
Occasional (5-29%)HP:0001671
Hyperactive behaviour
Occasional (5-29%)HP:0000752
Increased amniotic fluid index
Occasional (5-29%)HP:0001561
Lens opacities
Occasional (5-29%)HP:0000518
PDA
Occasional (5-29%)HP:0001643
Quick Facts
- SNOMED CT
- 240104008
- UMLS CUI
- C0410226
- Fully Specified Name
- Congenital myotonic dystrophy (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.