Hao-Fountain syndrome due to USP7 mutation

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Hao-Fountain syndrome due to USP7 mutation

ORPHA:643538Etiological subtype

Also called HAFOUS due to USP7 mutation

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Autosomal dominant
Classified as
Etiological subtype

Recorded for the broader condition

Prevalence
<1 / 1 000 000Hao-Fountain syndrome
Age of onset
Infancy, NeonatalHao-Fountain syndrome

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Gene

USP7Disease-causing germline mutation(s)

Cross-references

MONDO 0958071OMIM 616863UMLS C5816734

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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