X-linked intellectual disability, Snyder type
Synonyms: Snyder-Robinson syndrome
X-linked intellectual disability Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia asthenic build with diminished muscle mass severe generalized psychomotor delay unsteady gait and moderate to severe intellectual disability as well as a long thin asymmetrical face with prominent lower lip long fingers and toes and nasal dysarthric or absent speech. Bone abnormalities (e.g. osteoporosis kyphoscoliosis fractures joint contractures) are also characteristic. Myoclonic or myoclonic-like seizures and renal abnormalities have been associated 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
Newly diagnosed with
X-linked intellectual disability, Snyder type?
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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.