AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Synonyms: Xia-Gibbs syndrome
A rare syndromic intellectual disability characterized by hypotonia developmetal delay absent or severly delayed speech development intellectual disability obstructive sleep apnea mild dysmorphic facial features and behavioral abnormalities. Epilepsy ataxia and nystagmus 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 2024
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AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome?
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Advocacy Organizations
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
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Xia-Gibbs Society, Inc.
Xia-Gibbs Society is a not-for-profit corporation formed in the USA for charitable purposes. Our mission is to support and advocate for those with Xia-Gibbs Syndrome (XGS) and their families, to raise awareness and to assist with scientific and medical research.
Clinical Trials
For a list of clinical trials in this disease area, please click here.