Buratti-Harel syndrome
MONDO:0859144Mondo
Findings
No curated finding names Buratti-Harel 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
- Congenital onset
HPO, annotations 2026-09-02
Features
29 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.
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- Floppy infantHPOHP:0008947
- 5 of 5 reported patients · Infantile onset
- HypertelorismHPOHP:0000316
- 5 of 5 reported patients
- Low-set earsHPOHP:0000369
- 5 of 5 reported patients
- MicrotiaHPOHP:0008551
- 5 of 5 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 5 of 5 reported patients
- Sparse medial eyebrowHPOHP:0025325
- 5 of 5 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 4 of 5 reported patients
- EpicanthusHPOHP:0000286
- 4 of 5 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 4 of 5 reported patients
- LaryngomalaciaHPOHP:0001601
- 4 of 5 reported patients
- Motor delayHPOHP:0001270
- 4 of 5 reported patients
Show the remaining 17
- CryptorchidismHPOHP:0000028
- 2 of 3 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 5 reported patients
- Broad halluxHPOHP:0010055
- 2 of 5 reported patients
- Broad thumbHPOHP:0011304
- 2 of 5 reported patients
- High palateHPOHP:0000218
- 2 of 5 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 2 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SIAH1HGNC:10857
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2020
Where it sits
- A kind of