Bryant-Li-Bhoj neurodevelopmental syndrome 1
MONDO:0030606Mondo
Findings
No curated finding names Bryant-Li-Bhoj neurodevelopmental syndrome 1 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
66 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.
- Global developmental delayHPOHP:0001263
- 32 of 32 reported patients
- Delayed ability to walkHPOHP:0031936
- 30 of 31 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 30 of 31 reported patients
- Delayed ability to sitHPOHP:0025336
- 29 of 32 reported patients
- HypotoniaHPOHP:0001252
- 27 of 33 reported patients
- SeizureHPOHP:0001250
- 17 of 33 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 11 of 33 reported patients
- Flexion contractureHPOHP:0001371
- 10 of 33 reported patients
- Chronic constipationHPOHP:0012450
- 9 of 32 reported patients
- EpicanthusHPOHP:0000286
- 9 of 33 reported patients
- HypertelorismHPOHP:0000316
- 8 of 33 reported patients
- MicrocephalyHPOHP:0000252
- 8 of 33 reported patients
Show the remaining 54
- Atrial septal defectHPOHP:0001631
- 7 of 33 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 7 of 33 reported patients
- Low-set earsHPOHP:0000369
- 7 of 33 reported patients
- StrabismusHPOHP:0000486
- 7 of 33 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 6 of 33 reported patients
- Joint hypermobilityHPOHP:0001382
- 6 of 33 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.
- H3-3A; H3-3BHGNC:4764
- Definitive · Illumina · Autosomal dominant · 2022
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: Bryant-Li-Bhoj neurodevelopmental syndrome 1
- Also called
- BRYLIB1