- 18q Syndrome
- Acute Disseminated Encephalomyeolitis (ADEM)
- Acute Hemorrhagic Leukoencephalitis (AHLE)
- Adrenoleukodystrophy (ALD)
- Adrenomyeloneuropathy (AMN)
- Adult Onset Autosomal Dominant Leukodystrophy (ADLD)
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
- Adult Polyglucosan Body Disease
- Aicardi-Goutieres Syndrome
- Alexander Disease
- Canavan Disease
- Cerebrotendinous Xanthomatosis (CTX)
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
- Coats Plus Syndrome or Cerebroretinal Microangiography with Calcifications and Cysts (CRMCC)
- Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN)
- Fucosidosis
- Fukuyama Congenital Muscular Dystrophy
- Galactosialidosis
- Globoid Cell Leukodystrophy (Krabbe Disease)
- GM1 Gangliosidosis
- GM2 Gangliosidosis (Tay-Sachs Disease)
- Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC)
- Hypomyelination with Hypogonadotropic Hypogonadism and Hypodontia (4H Syndrome)
- Infantile Refsum Disease
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL)
- Metachromatic Leukodystrophy (MLD)
- Megalencephalic Leukodystrophy with subcortical Cysts (MLC)
- Nasu-Hakola Disease (NHD) or Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)
- Neonatal Adrenoleukodystrophy (NALD)
- Oculodentodigital Dysplasia with Cerebral White Matter Abnormalities (ODDD)
- Pelizaeus Merzbacher Disease
- Refsum Disease
- RNAse T2-deficient Leukoencephalopathy
- Sjogren-Larsson Syndrome
- Vanishing White Matter Disease (VWM)
- Zellweger Syndrome
Visit the United Leukodystrophy Foundation for more information.