chromosome 13q33-q34 deletion syndrome
MONDO:0030896Mondo
Findings
No curated finding names chromosome 13q33-q34 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
61 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.
- EpicanthusHPOHP:0000286
- 14 of 14 reported patients
- HypertelorismHPOHP:0000316
- 14 of 14 reported patients
- HypotoniaHPOHP:0001252
- 11 of 11 reported patients
- Wide nasal bridgeHPOHP:0000431
- 13 of 14 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 12 of 13 reported patients
- TrigonocephalyHPOHP:0000243
- 12 of 13 reported patients
- Small for gestational ageHPOHP:0001518
- 10 of 11 reported patients · Congenital onset
- StrabismusHPOHP:0000486
- 9 of 10 reported patients
- High foreheadHPOHP:0000348
- 11 of 13 reported patients
- Tented upper lip vermilionHPOHP:0010804
- 11 of 13 reported patients
- Open mouthHPOHP:0000194
- 9 of 11 reported patients
- High palateHPOHP:0000218
- 11 of 14 reported patients
Show the remaining 49
- Prominent metopic ridgeHPOHP:0005487
- 10 of 13 reported patients
- Sloping foreheadHPOHP:0000340
- 10 of 13 reported patients
- MicrocephalyHPOHP:0000252
- 8 of 11 reported patients
- Deeply set eyeHPOHP:0000490
- 9 of 13 reported patients
- Small thenar eminenceHPOHP:0001245
- 9 of 14 reported patients
- BrachycephalyHPOHP:0000248
- 8 of 13 reported patients