USP7-related disorder, also known as Hao-Fountain Syndrome (HFOUS), results from pathogenic variants or deletions in the USP7 gene.
The USP7 gene is located on chromosome 16p13.2 and encodes ubiquitin-specific protease 7, a key enzyme regulating protein ubiquitination and recycling.
Clinical Presentation:
Affects both boys and girls, with variability in severity.
Common features include:
Neurodevelopmental difficulties: Developmental delay, intellectual disability (ID), and behavioral issues.