Synonyms: POLR-related leukodystrophy
A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition abnormal order of dentition hypodontia) hypogonadotropic hypogonadism and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.
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 September 2024
Newly diagnosed with
4H leukodystrophy?
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Advocacy Organizations
Aicardi-Goutieres Syndrome Advocacy Association
AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.
Alex, The Leukodystrophy Charity
Support and access to treatment for everyone living with leukodystrophy Provide support for those living with leukodystrophy, and their families/carers Raise awareness of leukodystrophy Improve best practice in prevention, diagnosis & treatment Support research initiatives
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Cure LBSL
Our Mission Find a cure for LBSL, advance awareness of the disease, and support patients, families, and medical providers confronted with this ultra-rare condition.
Mitchell’s Fund
Founded in 2016 in memory of Mitchell Bays Turner, who lost his life to a rare form of leukemia, Mitchell’s Fund provides targeted mental health services to some of Charlotte's most vulnerable families: those experiencing the trauma of a childhood diagnosis of a terminal or life-threatening illness. Our primary goal is to provide counseling and play therapy to sick children and families at no cost
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
United Leukodystrophy Foundation
OUR MISSION is to provide support to the leukodystrophy community and enable platforms to accelerate improving patient quality of life and finding cures. OUR VISION is to meet the needs of patients and families, whether newly diagnosed or living with a leukodystrophy.
Yaya Foundation for 4H Leukodystrophy
The Yaya Foundation provides hope for children and families affected by 4H Leukodystrophy in two key ways—by accelerating the discovery of therapies through research and providing education and emotional support for families.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.