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 syndrome Spinal dysraphism with a posterior meningocele Pediatric Castleman disease Diaphragmatic or abdominal wall malformation Lumbosacral spina bifida cystica Aicardi-Goutières syndrome Juvenile or adult CACH syndrome Late infantile CACH syndrome Neonatal autoimmune hemolytic anemia Severe Canavan disease Hemophilia B Ovarioleukodystrophy Alexander disease Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Hemophilia A Mild hemophilia B Severe hemophilia A Mild hemophilia A Infantile Krabbe disease CACH syndrome Cerebrotendinous xanthomatosis Canavan disease Hypomyelination with brain stem and spinal cord involvement and leg spasticity Cystic leukoencephalopathy without megalencephaly Omphalocele Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease, transitional form Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Megalencephalic leukoencephalopathy with subcortical cysts Pelizaeus-Merzbacher disease Von Willebrand disease type 2 Alexander disease type II Nasu-Hakola disease Juvenile dermatomyositis