SE-ATLAS

4H leukodystrophy Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Aicardi-Goutières syndrome Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy Adult Krabbe disease Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Metachromatic leukodystrophy, late infantile form Juvenile or adult CACH syndrome Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Pelizaeus-Merzbacher disease Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with mild cerebellar ataxia and white matter edema Alexander disease type II Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Severe Canavan disease Canavan disease Hypomyelination-congenital cataract syndrome Infantile Refsum disease Adrenomyeloneuropathy Cerebrotendinous xanthomatosis Null syndrome Refsum disease Leukodystrophy Megalencephalic leukoencephalopathy with subcortical cysts Progressive cavitating leukoencephalopathy X-linked cerebral adrenoleukodystrophy Adult-onset autosomal dominant leukodystrophy Alexander disease Pelizaeus-Merzbacher-like disease Pelizaeus-Merzbacher disease, classic form Allan-Herndon-Dudley syndrome Fucosidosis Nasu-Hakola disease Congenital or early infantile CACH syndrome Zellweger syndrome Pelizaeus-Merzbacher disease in female carriers X-linked adrenoleukodystrophy Metachromatic leukodystrophy, juvenile form Krabbe disease Alexander disease type I Unknown leukodystrophy Neonatal adrenoleukodystrophy Cystic leukoencephalopathy without megalencephaly Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Infantile Krabbe disease Pelizaeus-Merzbacher-like disease due to GJC2 mutation Hypomyelination with brain stem and spinal cord involvement and leg spasticity CADDS Late-infantile/juvenile Krabbe disease Maladie de Pelizaeus-Merzbacher, forme transitoire Maladie de Canavan modérée Hypomyélinisation avec atrophie des noyaux gris centraux et du cervelet Syndrome de leucoencéphalopathie-dystonie-neuropathie motrice Anomalie de la biogenèse du péroxysome Paraplégie spastique type 2 Maladie de Pelizaeus-Merzbacher-like par mutation de AIMP1 Odontoleucodystrophie Leucoencéphalopathie crie Syndrome de leucoencéphalopathie-anomalies du thalamus et du tronc cérébral-hyperlactatémie Syndrome CACH Syndrome CACH infantile tardif Maladie de Pelizaeus-Merzbacher, forme néonatale Ovarioleucodystrophie