Houge-Janssens syndrome type 3

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Houge-Janssens syndrome type 3

ORPHA:726659Clinical subtype

Also called PPP2CA-related neurodevelopmental disorder · PPP2CA-related Houge-Janssens syndrome · HJS3

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
Clinical subtype

Recorded for the broader condition

Prevalence
<1 / 1 000 000Houge-Janssens syndrome
Age of onset
Childhood, Infancy, NeonatalHouge-Janssens 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

PPP2CADisease-causing germline mutation(s)

Cross-references

OMIM 618354

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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