congenital-onset Steinert myotonic dystrophy
MONDO:0035646Mondo
Findings
No curated finding names congenital-onset Steinert myotonic dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormally slow thought processHPOHP:0031843
- Very frequent (80% to 99% of cases)
- Facial hypotoniaHPOHP:0000297
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- Tented upper lip vermilionHPOHP:0010804
- Very frequent (80% to 99% of cases)
- Bundle branch blockHPOHP:0011710
- Frequent (30% to 79% of cases)
- First degree atrioventricular blockHPOHP:0011705
- Frequent (30% to 79% of cases)
- MyotoniaHPOHP:0002486
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- Neonatal respiratory distressHPOHP:0002643
- Frequent (30% to 79% of cases)
- Poor fine motor coordinationHPOHP:0007010
- Frequent (30% to 79% of cases)
- Premature birthHPOHP:0001622
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
Show the remaining 22
- Short attention spanHPOHP:0000736
- Frequent (30% to 79% of cases)
- Speech apraxiaHPOHP:0011098
- Frequent (30% to 79% of cases)
- TalipesHPOHP:0001883
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: congenital-onset Steinert myotonic dystrophy
- Also called
- Congenital-onset myotonic dystrophy type 1Congenital-onset Steinert disease