GeneReviews® and OMIM®

GeneReviews®, is an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.


Each chapter in GeneReviews® is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online.


OMIM®, or the Online Mendelian Inheritance in Man®is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. 


The full-text, referenced overviews in OMIM® contain information on all known mendelian disorders and over 15,000 genes. OMIM® focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.

GeneReviews® and OMIM® Database for other Peroxisomal Disorders
Patient Genetic and Family Carrier Testing- NEW RESOURCES!
Research Resources
Foundations and Support Groups

United Leukodystrophy Foundation- Support for all leukodystrophies

Australian Leukodystrophy Support Group- Support for families facing leukodystrophy in Australia


European Leukodystrophy Foundation- Support for families facing leukodystrophy in Europe


Axel Foundation- Foundation centered around support for families facing Zellweger Spectrum Disorder in the Netherlands


Axel's Metabolic Disorder (educational comic book created by Axel Foundation)


Zellweger UK- Foundation in the United Kingdom focused on Zellweger Spectrum Disorder


PBD Canada- Support group in Canada for families facing PBD-ZSD and the related peroxisomal disorders


Fundacion Lautarote Necesita- Foundation supporting leukodystrophy research in Argentina


Bereaved Parents of PBD Kids Support Group- This group is hosted by a mother who has lost a child to a peroxisomal disorder.


Make-A-Wish Foundation- Provides wishes for children with terminal illnesses

Lily's List - Lily's List works with pediatric patients that have a need for home health nursing. They provide a Lily's List provides a box of supplies for children who have home health nursing.

Deaf-blind and Educational Resources
Rare Disease Advocacy and Education
GeneReviews® and OMIM® Database for Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (formerly known as Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, and Heimler Syndrome):

GeneReviews® for Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder


OMIM® entry on Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder

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