Synonyms: Hypothalamic hamartoblastoma syndrome
Pallister-Hall syndrome (PHS) a pleiotropic autosomal dominant malformative disorder is characterized by hypothalamic hamartoma pituitary dysfunction bifid epiglottis polydactyly and more rarely renal abnormalities and genitourinary malformations.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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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.
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Curing single-gene disorders
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