SE-ATLAS

Congenital or early infantile CACH syndrome Autosomal dominant polycystic kidney disease Hypomyelination with atrophy of basal ganglia and cerebellum Spina bifida-hypospadias syndrome Pelizaeus-Merzbacher disease, connatal form Hypomyelination-congenital cataract syndrome Leukoencephalopathy with bilateral anterior temporal lobe cysts CADDS Transient neonatal myasthenia gravis Total spina bifida cystica Progressive cavitating leukoencephalopathy Cervical spina bifida cystica Pelizaeus-Merzbacher disease, classic form Bleeding disorder in hemophilia A carriers Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Bleeding disorder in hemophilia B carriers Open spinal dysraphism Peroxisome biogenesis disorder Adult Krabbe disease Total spina bifida aperta Von Willebrand disease type 1 Alexander disease type I Zellweger syndrome Odontoleukodystrophy Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Von Willebrand disease type 3 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Neonatal antiphospholipid syndrome Cervical spina bifida aperta Pelizaeus-Merzbacher-like disease Severe hemophilia B Moderate hemophilia B Mild Canavan disease Spastic paraplegia type 2 Neonatal dermatomyositis Neonatal scleroderma CREST syndrome Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Pelizaeus-Merzbacher-like disease due to GJC2 mutation Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Spina bifida and other spinal dysraphisms Adrenomyeloneuropathy Leukoencephalopathy-dystonia-motor neuropathy syndrome Cree leukoencephalopathy Leukoencephalopathy with mild cerebellar ataxia and white matter edema Chronic intestinal failure Ravine syndrome Allan-Herndon-Dudley syndrome Gastroschisis Moderate hemophilia A Congenital diaphragmatic hernia Eosinophilic fasciitis Lumbosacral spina bifida aperta Late-infantile/juvenile Krabbe disease Von Willebrand disease Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Null-Syndrom Spinale Dysraphie mit posteriorer Meningozele Castleman-Krankheit des Kindesalters Zwerchfell- und Bauchwandfehlbildung ida cystica, lumbosakrale Aicardi-Goutières-Syndrom CACH-Syndrom, juvenile oder adulte Form CACH-Syndrom, spät-infantile Form Neonatale autoimmune hämolytische Anämie Canavan-Krankheit, schwere Hämophilie B Ovarioleukodystrophie Alexander-Krankheit Hypomyelinisierung-Hypogonadotroper Hypogonadismus-Hypodontie-Syndrom Hämophilie A Hämophilie B, milde Hämophilie A, schwere Hämophilie A, milde Krabbe-Syndrom, infantile Form CACH-Syndrom Xanthomatose, zerebrotendinöse Canavan-Krankheit Hypomyelinisierung mit Hirnstamm- und Rückenmarkbeteiligung und Beinspastik Zystische Leukoenzephalopathie ohne Megalenzephalie Omphalozele Periphere demyelinisierende Neuropathie-zentrale demyelinisierende Leukodystrophie-Waardenburg-Syndrom-Hirschsprung Krankheit Pelizaeus-Merzbacher-Krankheit, weibliche Überträgerinnen Pelizaeus-Merzbacher-Krankheit, transitionale Form Leukoenzephalopathie-Ataxie-Hypodontie-Hypomyelinisierung-Syndrom Megalenzephale Leukoenzephalopathie mit subkortikalen Zysten Pelizaeus-Merzbacher-Krankheit Von-Willebrand-Erkrankung Typ 2 Alexander-Krankheit Typ II Nasu-Hakola-Krankheit Dermatomyositis, juvenile