ICD Q93.89ORPHA:2869PHS

Pitt-Hopkins Syndrome

Pitt-Hopkins syndrome is a rare neurodevelopmental condition caused by mutations in the TCF4 gene, causing intellectual disability, absent speech, characteristic facial features, and distinctive breathing abnormalities. Diagnosis has increased with molecular genetic testing. Research into TCF4 restoration strategies is emerging.

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204
Trials (26 AU)
Updated
26 March 2026
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This information is for general awareness only.

For guidance specific to your situation, please speak with your healthcare team.