Xq12-q13.3 duplication syndrome
Synonyms: Dup(X)(q12-q13.3) | Kaya-Prontera syndrome
Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome X characterized by global developmental delay autistic behavior microcephaly and facial dysmorphism (including down-slanting palpebral fissures depressed nasal bridge anteverted nares long philtrum down-slanting corners of the mouth). Seizures have also been reported in some patients.
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 2024
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Xq12-q13.3 duplication syndrome?
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Advocacy Organizations
FamilieSCN2A Foundation
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our VISION is a world with effective treatments and cures for all SCN2A-related disorders. Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Clinical Trials
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