Synonyms: Del(17)(q12) | Monosomy 17q12
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease maturity onset diabetes of the young type 5 and neurodevelopmental disorders such as cognitive impairment developmental delay (particularly of speech) autistic traits and autism spectrum disorder. Müllerian aplasia in females macrocephaly mild facial dysmorphism (high forehead deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.
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
17q12 microdeletion syndrome?
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Advocacy Organizations
17q12 Foundation
Creating a community for those affected by 17q12 syndromes while raising awareness and encouraging research.
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.