chromosome Xq13 duplication syndrome
MONDO:0859081Mondo
Findings
No curated finding names chromosome Xq13 duplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
41 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.
- Intellectual disabilityHPOHP:0001249
- 11 of 13 reported patients
- Short palpebral fissureHPOHP:0012745
- 6 of 13 reported patients
- Sleep disturbanceHPOHP:0002360
- 6 of 13 reported patients
- HypotoniaHPOHP:0001252
- 5 of 13 reported patients
- Medial flaring of the eyebrowHPOHP:0010747
- 5 of 13 reported patients
- Midface retrusionHPOHP:0011800
- 5 of 13 reported patients
- AsthmaHPOHP:0002099
- 4 of 13 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 13 reported patients
- EpicanthusHPOHP:0000286
- 3 of 13 reported patients
- Finger joint hypermobilityHPOHP:0006094
- 3 of 13 reported patients
- High foreheadHPOHP:0000348
- 3 of 13 reported patients
- HyperactivityHPOHP:0000752
- 3 of 13 reported patients
Show the remaining 29
- Pes planusHPOHP:0001763
- 3 of 13 reported patients
- Almond-shaped palpebral fissureHPOHP:0007874
- 2 of 13 reported patients
- AnxietyHPOHP:0000739
- 2 of 13 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 13 reported patients
- Diminished ability to concentrateHPOHP:0031987
- 2 of 13 reported patients
- SeizureHPOHP:0001250
- 2 of 13 reported patients
Where it sits
- A kind of