Synonyms: Cabezas syndrome
An X-linked syndromic intellectual disability characterized by developmental delay intellectual disability (ID) with severe speech impairment and short stature. Variable additional clinical features have been associated including behavioral disturbances gait abnormalities tremor seizures hypogonadism truncal obesity unspecific facial dysmorphism and small hands and feet.
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
X-linked intellectual disability, Cabezas type?
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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
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