Pontocerebellar hypoplasia type 12
Synonyms: COASY-related pontocerebellar hypoplasia | PCH12
A lethal form of pontocerebellar hypoplasia characterized by prenatal onset of microcephaly hypoplasia of the cerebellum brainstem and spinal cord dysmorphic craniofacial features such as sloping forehead and micrognathia and multiple contractures. Supratentorial atrophy has 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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Pontocerebellar hypoplasia type 12?
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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.
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.
ZC4H2 Research Foundation
Our Mission: The purpose of the ZC4H2 Research Foundation is to support the development of viable therapies and standards of clinical care for the treatment of ZC4H2 Associated Rare Disorders (ZARD), and to be an information and support network for the ZARD community. We advocate through research, awareness, and support. For more information, please visit https://www.zc4h2foundation.org.
Clinical Trials
For a list of clinical trials in this disease area, please click here.