DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion
MONDO:0017283Mondo
Findings
No curated finding names DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
46 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 brain morphologyHPOHP:0012443
- Very frequent (80% to 99% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Very frequent (80% to 99% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- 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)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- AstigmatismHPOHP:0000483
- Frequent (30% to 79% of cases)
Show the remaining 34
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Full cheeksHPOHP:0000293
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Short palpebral fissureHPOHP:0012745
- Frequent (30% to 79% of cases)
Where it sits
Other names
5 names
Resolves to: DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion
- Also called
- 10p12p11 microdeletion syndromeDel(10)(p11.21p12.31)deletion 10p11.21p12.31facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionmonosomy 10p11.21p12.31