DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
MONDO:0017056Mondo
Findings
No curated finding names DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
97 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)
- Brain imaging abnormalityHPOHP:0410263
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- 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)
- 2-4 toe cutaneous syndactylyHPOHP:0005768
- Frequent (30% to 79% of cases)
- Abnormal foot morphologyHPOHP:0001760
- Frequent (30% to 79% of cases)
- Abnormal toe morphologyHPOHP:0001780
- Frequent (30% to 79% of cases)
- Abnormality of the eyeHPOHP:0000478
- Frequent (30% to 79% of cases)
- Abnormality of the genitourinary systemHPOHP:0000119
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
Show the remaining 85
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Broad-based gaitHPOHP:0002136
- Frequent (30% to 79% of cases)
- CNS hypomyelinationHPOHP:0003429
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- Hypoplasia of the brainstemHPOHP:0002365
- Frequent (30% to 79% of cases)
Where it sits
Other names
5 names
Resolves to: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- Also called
- 21q22.13-q22.2 microdeletion syndrome21q22.13q22.2 microdeletion syndromeDel(21)(q22.13q22.2)monosomy 21q22.13-q22.2monosomy 21q22.13q22.2