11q22.2q22.3 microdeletion syndrome
MONDO:0018632Mondo
Findings
No curated finding names 11q22.2q22.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
44 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.
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Abnormal social behaviorHPOHP:0012433
- Occasional (5% to 29% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Occasional (5% to 29% of cases)
- Autism with high cognitive abilitiesHPOHP:0000753
- Occasional (5% to 29% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Occasional (5% to 29% of cases)
- BrachydactylyHPOHP:0001156
- Occasional (5% to 29% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
- Compulsive behaviorsHPOHP:0000722
- Occasional (5% to 29% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Occasional (5% to 29% of cases)
- Delayed myelinationHPOHP:0012448
- Occasional (5% to 29% of cases)
Show the remaining 32
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
- DroolingHPOHP:0002307
- Occasional (5% to 29% of cases)
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- EpicanthusHPOHP:0000286
- Occasional (5% to 29% of cases)
- Epidermal thickeningHPOHP:0011368
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: 11q22.2q22.3 microdeletion syndrome
- Also called
- 11q22.2-q22.3 deletion syndromeDel(11)(q22.2q22.3)monosomy 11q22.2-q22.3monosomy 11q22.2q22.3