Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
Synonyms: 15q14 microdeletion syndrome | Del(15)(q14) | Monosomy 15q14
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay short stature and facial dysmorphism.
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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Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion?
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Advocacy Organizations
Africa Save Life International (ASLI)
ASLI’s mission is "Empowering Hope, Transforming Lives: Our Commitment to Rare Diseases" At ASLI, we stand united in our unwavering dedication to improving the lives of individuals and families affected by rare diseases. Our mission is grounded in the belief that every person, regardless of the rarity of their condition, deserves access to support, care and treatment in Uganda.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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