Hao-Fountain syndrome due to USP7 mutation
MONDO:0958071Mondo
Findings
No curated finding names Hao-Fountain syndrome due to USP7 mutation 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
19 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
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 4 reported patients
- Aggressive behaviorHPOHP:0000718
- 5 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 7 reported patients
- SeizureHPOHP:0001250
- 5 of 7 reported patients
- HypotoniaHPOHP:0001252
- 4 of 7 reported patients
- Premature adrenarcheHPOHP:0012412
- 1 of 2 reported patients
- ApraxiaHPOHP:0002186
- 3 of 7 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 7 reported patients
- Delayed cranial suture closureHPOHP:0000270
- 1 of 7 reported patients
Show the remaining 7
- Hallux valgusHPOHP:0001822
- 1 of 7 reported patients
- Large fontanellesHPOHP:0000239
- 1 of 7 reported patients
- Low-set earsHPOHP:0000369
- 1 of 7 reported patients
- TrigonocephalyHPOHP:0000243
- 1 of 7 reported patients
- Central sleep apneaHPOHP:0010536
- Perseverative thoughtHPOHP:0030223
- StrabismusHPOHP:0000486
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.
- USP7HGNC:12630
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: Hao-Fountain syndrome due to USP7 mutation
- Also called
- USP7-related neurodevelopmental disorder