SE-ATLAS

Congenital or early infantile CACH syndrome Autosomal dominant polycystic kidney disease Juvenile or adult CACH syndrome Late infantile CACH syndrome Hypomyelination with atrophy of basal ganglia and cerebellum Psoriasis-related juvenile idiopathic arthritis Polyarticular juvenile idiopathic arthritis Spina bifida-hypospadias syndrome Pelizaeus-Merzbacher disease, connatal form Hypomyelination-congenital cataract syndrome Leukoencephalopathy with bilateral anterior temporal lobe cysts CADDS Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Enthesitis-related juvenile idiopathic arthritis Transient neonatal myasthenia gravis Alexander disease Total spina bifida cystica Progressive cavitating leukoencephalopathy Cervical spina bifida cystica Pelizaeus-Merzbacher disease, classic form STAT3-related early-onset multisystem autoimmune disease Hypomyelination with brain stem and spinal cord involvement and leg spasticity Bleeding disorder in hemophilia A carriers Infantile Krabbe disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Bleeding disorder in hemophilia B carriers Krabbe disease Overlapping connective tissue disease Pelizaeus-Merzbacher disease, transitional form Open spinal dysraphism Peroxisome biogenesis disorder Rare pediatric systemic disease Adult Krabbe disease Cerebrotendinous xanthomatosis Total spina bifida aperta Von Willebrand disease type 1 Infantile Refsum disease Juvenile idiopathic arthritis Nasu-Hakola disease Refsum disease Alexander disease type I Zellweger syndrome Odontoleukodystrophy Alexander disease type II Unexplained long-lasting fever/inflammatory syndrome Secondary neonatal autoimmune disease Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Juvenile dermatomyositis Von Willebrand disease type 3 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Neonatal antiphospholipid syndrome Cervical spina bifida aperta Sarcoidosis Pelizaeus-Merzbacher-like disease Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Severe hemophilia B Neonatal autoimmune hemolytic anemia Mixed connective tissue disease Moderate hemophilia B Severe hemophilia A Mild Canavan disease Mild hemophilia B Neonatal dermatomyositis Spastic paraplegia type 2 Hemophilia B Hemophilia A Neonatal scleroderma CACH syndrome Systemic sclerosis Autoimmune interstitial lung disease-arthritis syndrome CREST syndrome Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Pelizaeus-Merzbacher-like disease due to GJC2 mutation Juvenile polymyositis Spina bifida and other spinal dysraphisms Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Adrenomyeloneuropathy Canavan disease Kawasaki disease Ovarioleukodystrophy Leukoencephalopathy-dystonia-motor neuropathy syndrome Cree leukoencephalopathy Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Pelizaeus-Merzbacher disease Megalencephalic leukoencephalopathy with subcortical cysts Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Cystic leukoencephalopathy without megalencephaly Dérèglement et déficit immunitaire lié à PLCG2 Arthrite juvénile idiopathique indéterminée Arthrite juvénile idiopathique sans facteur rhumatoïde avec anticorps anti-nucléaire Arthrite juvénile idiopathique systémique Arthrite juvénile idiopathique sans facteur rhumatoïde sans anticorps anti-nucléaire Leucoencéphalopathie avec ataxie cérébelleuse modérée et oedème de la substance blanche Insuffisance intestinale chronique Arthrite juvénile idiopathique oligoarticulaire avec anticorps anti-noyaux Syndrome d'Allan-Herndon-Dudley Laparoschisis Hernie de coupole diaphragmatique Hémophilie A modérée Syndrome Ravine Hémophilie A mineure Lupus érythémateux disséminé de l'enfant Fasciite à éosinophiles Spina bifida ouvert lombo-sacré Maladie de Krabbe infantile tardive/juvénile Omphalocèle Maladie de von Willebrand Arthrite juvénile idiopathique oligoarticulaire Maladie de Pelizaeus-Merzbacher chez les femmes porteuses Syndrome de leucoencéphalopathie avec atteinte du tronc cérébral et de la moelle épinière-élévation des lactates Dysraphisme spinal associé à une méningocèle postérieure Maladie de Pelizaeus-Merzbacher par mutation non-sens de PLP1 Sclérose systémique cutanée diffuse Maladie de Castleman de l'enfant Malformation du diaphragme ou de la paroi abdominale Lupus érythémateux néonatal Maladie de Canavan sévère Syndrome d'Aicardi-Goutières Maladie de von Willebrand type 2 Spina bifida kystique lombo-sacré