SE-ATLAS

Dystonie plus-Syndrom Zervikale Dystonie mit Beginn im Erwachsenenalter Typ DYT23 Entwicklungsdefekte-Schwerhörigkeit-Dystonie-Syndrom Hemidystonie-Hemiatrophie-Syndrom Persistierende kombinierte Dystonie Pelizaeus-Merzbacher-ähnliche Krankheit mit GJC2-Genmutationen Leukoenzephalopathie mit Hirnstamm- und Rückenmarkbeteiligung - Laktaterhöhung Canavan-Krankheit Thrombopathie, konstitutionelle Adrenomyeloneuropathie Pelizaeus-Merzbacher-ähnliche Krankheit mit AIMP1-Genmutationen Generalisierte isolierte Dystonie Leukodystrophie, autosomal-dominante, im Erwachsenenalter beginnend Leukoenzephalopathie - Dystonie - motorische Neuropathie Ravine-Syndrom Multiple Sklerose-Ichthyose-Faktor-VIII-Mangel-Syndrom Vitamin K-abhängige Gerinnungsfaktoren, kongenitaler Mangel Gerinnungsstörung vom Ost-Texanischen Typ Leukoenzephalopathie-Ataxie-Hypodontie-Hypomyelinisierung-Syndrom Pelizaeus-Merzbacher-Krankheit Megalenzephale Leukoenzephalopathie mit subkortikalen Zysten Dystonie-Parkinson-Syndrom, X-chromosomales Leukodystrophie Faktor II-Mangel, erworbener Dystonie Enzephalopathie, epileptisch-dyskinetische infantile Kombinierter Mangel an Faktor V und Faktor VIII Hämophilie Schwere motorische und intellektuelle Beeinträchtigung-sensorinsorineurale Schwerhörigkeit-Dystonie-Syndrom CACH-Syndrom, kongenitales oder früh-infantile Form Adrenoleukodystrophie, X-chromosomale Infantile Dystonie-Parkinsonismus Nierenkrankheit, polyzystische, autosomal-dominante Nierenkrankheit, polyzystische, autosomal-rezessive CACH-Syndrom, spät-infantile Form Torticollis, benigner paroxysmaler, des Kindesalters CACH-Syndrom, juvenile oder adulte Form Hypomyelinisierung - kongenitale Katarakt Woodhouse-Sakati-Syndrom Plasminogenaktivator-Inhibitor Typ 1-Mangel, kongenitaler Alexander-Krankheit Pelizaeus-Merzbacher-Krankheit, konnatale Form Dystonie, primäre, Typ DYT4 Allan-Herndon-Dudley-Syndrom Dopa-responsive Dystonie, autosomal-dominante Leukodystrophie, metachromatische, spät-infantile Form Fibrinogen-Mangel, kongenitaler Leukoenzephalopathie mit milder zerebellärer Ataxie und Ödem der weißen Substanz Paroxysmale kinesiogene Dyskinesie Paroxysmale anstrengungsinduzierte Dyskinesie Dyskinesie, paroxysmale 4H-Leukodystrophie Präkallikrein-Mangel, kongenitaler Leukodystrophie, metachromatische, juvenile Form Hypomyelinisierung mit Hirnstamm- und Rückenmarkbeteiligung und Beinspastik Störung des zerebralen vesikulären Dopamin-Serotonin-Transportes Pelizaeus-Merzbacher-Krankheit, transitionale Form Krabbe-Syndrom, infantile Form Leukoenzephalopathie-Thalamus und Hirnstamm-Anomalien-Hoher Laktatwert-Syndrom Myoklonus-Dystonie-Syndrom Dystonie, primäre, Typ DYT17 Leukodystrophie, metachromatische, adulte Form Krabbe-Syndrom Dopa-responsive dystonia due to sepiapterin reductase deficiency Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Peroxisome biogenesis disorder Late-infantile/juvenile Krabbe disease Null syndrome Rare hemorrhagic disorder due to a coagulation factors defect Adult-onset dystonia-parkinsonism Autosomal recessive dopa-responsive dystonia Adult Krabbe disease Autosomal dominant focal dystonia, DYT25 type Pelizaeus-Merzbacher disease in female carriers Paroxysmal dystonia Combined cervical dystonia Cerebrotendinous xanthomatosis Primary dystonia, DYT2 type Focal, segmental or multifocal dystonia Hemophagocytic syndrome Zellweger syndrome Primary hemophagocytic lymphohistiocytosis Alexander disease type II Metachromatic leukodystrophy Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Severe Canavan disease Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Pelizaeus-Merzbacher-like disease Dopa-responsive dystonia Rare hemorrhagic disorder due to an acquired platelet anomaly Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Dystonia 16 Rare thrombotic disorder due to a coagulation factors defect Acquired von Willebrand syndrome Blepharospasm-oromandibular dystonia syndrome Cranio-cervical dystonia with laryngeal and upper-limb involvement Hemophilia A Primary dystonia, DYT21 type Infantile Refsum disease Rare hemorrhagic disorder due to a platelet anomaly Oromandibular dystonia Rett syndrome Ovarioleukodystrophy Cree leukoencephalopathy Open spinal dysraphism with a myelomeningocele CADDS Mild Canavan disease Rare thrombotic disease of hematologic origin Neonatal adrenoleukodystrophy Rare thrombotic disorder due to a platelet anomaly Aicardi-Goutières syndrome Hemophilia B Dystonia-aphonia syndrome Congenital factor V deficiency Congenital factor XI deficiency Congenital factor XIII deficiency Congenital alpha2-antiplasmin deficiency Secondary hemophagocytic lymphohistiocytosis Rapid-onset dystonia-parkinsonism Rare hemorrhagic disorder due to an acquired coagulation factor defect Rare coagulation disorder Unknown leukodystrophy X-linked cerebral adrenoleukodystrophy Von Willebrand disease Cystic leukoencephalopathy without megalencephaly Peroxisomal acyl-CoA oxidase deficiency Pelizaeus-Merzbacher disease, classic form Hypomyelination with atrophy of basal ganglia and cerebellum Progressive cavitating leukoencephalopathy Leukoencephalopathy with bilateral anterior temporal lobe cysts Ataxia-telangiectasia variant Rare disorder with dystonia and other neurologic or systemic manifestation Alexander disease type I Spastic paraplegia type 2 Thrombomodulin-related bleeding disorder Infantile convulsions and choreoathetosis Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Congenital high-molecular-weight kininogen deficiency Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Odontoleukodystrophy Primary dystonia, DYT13 type Paroxysmal non-kinesigenic dyskinesia Early-onset generalized limb-onset dystonia Refsum disease Neurodegenerative syndrome due to cerebral folate transport deficiency Acquired hemophilia CACH syndrome Nasu-Hakola disease Rare hemorrhagic disorder due to a constitutional coagulation factors defect Primary dystonia, DYT6 type Rare hemorrhagic disorder Isolated dystonia