chromosome 22q13 duplication syndrome
MONDO:0014235Mondo
Findings
No curated finding names chromosome 22q13 duplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Sporadic
HPO, annotations 2026-09-02
Features
12 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 2 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 2 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 2 reported patients
- Bipolar affective disorderHPOHP:0007302
- 1 of 2 reported patients
- Emotional labilityHPOHP:0000712
- 1 of 2 reported patients
- Epicanthus inversusHPOHP:0000537
- 1 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 2 reported patients
- ImpulsivityHPOHP:0100710
- 1 of 2 reported patients
- Narrow nasal ridgeHPOHP:0000418
- 1 of 2 reported patients
- Short attention spanHPOHP:0000736
- 1 of 2 reported patients
- Status epilepticusHPOHP:0002133
- 1 of 2 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 1 of 2 reported patients
Where it sits
Other names
1 name
Resolves to: chromosome 22q13 duplication syndrome
- Also called
- chromosome 22q13 duplication syndrome, isolated cases