Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Synonyms: Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome | Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability congenital aphonia hearing loss optic atrophy retinal dystrophy broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows ptosis long downslanting palpebral fissures microstomia low-set posteriorly rotated ears) and genital abnormalities are also associated.
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 March 2024
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Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability 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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.