Hao-Fountain syndrome
Findings
No curated finding names Hao-Fountain syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus).
Definition from the Mondo Disease Ontology (MONDO:0014805), read 2026-09-29. CC BY 4.0.
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
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Ambry Genetics · Autosomal dominant · 2019
- Strong · Illumina · Autosomal dominant · 2019
Where it sits
- A kind of
Other names
2 names
Resolves to: Hao-Fountain syndrome
- Also called
- HAFOUSUSP7-Related Diseases