Periventricular nodular heterotopia
Periventricular nodular heterotopia (PNH) is a brain malformation due to abnormal neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit epilepsy of variable severity and extra-central nervous system signs especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Periventricular nodular heterotopia?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
PVNH Support & Awareness
PVNH Support & Awareness connects families together, advocates and educates patients, family members and medical professionals about Periventricular Nodular Heterotopia and other forms of neuronal heterotopia disorders. Our mission is to positively impact the outcome of affected patients’ lives.
Genetic Epilepsy Team Australia
Collaboration of research and care
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
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.