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 August 2026
Newly diagnosed with
4H leukodystrophy?
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Advocacy Organizations
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
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
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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.
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.