Synonyms: Del(2)(q32) | Del(2)(q32q33) | Monosomy 2q32 | Monosomy 2q32q33
A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability behavioral problems short stature microcephaly dysplastic nails sparse hair cleft palate and dysmorphic craniofacial features.
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
2q32q33 microdeletion syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
For a list of clinical trials in this disease area, please click here.