Pontocerebellar hypoplasia type 13
Synonyms: PCH13
A form of pontocerebellar hypoplasia characterized by infantile onset of severe global developmental delay with absent speech hypotonia feeding problems dysmorphic craniofacial features and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain which may already be apparent at an earlier stage include small hippocampus thin corpus callosum periventricular white matter abnormalities and Dandy-Walker malformation. Seizures nystagmus and cortical visual impairment have been reported in some cases.
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 December 2023
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Pontocerebellar hypoplasia type 13?
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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.
Genetic Epilepsy Team Australia
Collaboration of research and care
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.