A rare syndromic intellectual disability characterized by intellectual disability of various severity hypotonia feeding difficulties dysmorphic features autism and behavioral issues. Growth retardation congenital heart anomalies gastrointestinal and genitourinary defects have been rarely associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency?
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Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.