intellectual disability syndrome due to a DYRK1A point mutation
MONDO:0018733Mondo
Findings
No curated finding names intellectual disability syndrome due to a DYRK1A point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
68 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.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Abnormal axial skeleton morphologyHPOHP:0009121
- Frequent (30% to 79% of cases)
- Abnormality of visionHPOHP:0000504
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
Show the remaining 56
- Birth length less than 3rd percentileHPOHP:0003561
- Frequent (30% to 79% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: intellectual disability syndrome due to a DYRK1A point mutation
- Also called
- DYRK1A-related intellectual disability syndrome due to a point mutation