SE-ATLAS

Combined dystonia Adult-onset cervical dystonia, DYT23 type Developmental malformations-deafness-dystonia syndrome Hemidystonia-hemiatrophy syndrome Persistent combined dystonia Pelizaeus-Merzbacher-like disease due to GJC2 mutation Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Canavan disease Rare hemorrhagic disorder due to a constitutional platelet anomaly Adrenomyeloneuropathy Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Generalized isolated dystonia Adult-onset autosomal dominant leukodystrophy Leukoencephalopathy-dystonia-motor neuropathy syndrome Ravine syndrome Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Congenital vitamin K-dependent coagulation factors deficiency East Texas bleeding disorder Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Pelizaeus-Merzbacher disease Megalencephalic leukoencephalopathy with subcortical cysts X-linked dystonia-parkinsonism Leukodystrophy Acquired prothrombin deficiency Rare dystonia Infantile epileptic-dyskinetic encephalopathy Combined deficiency of factor V and factor VIII Hemophilia Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Congenital or early infantile CACH syndrome X-linked adrenoleukodystrophy Infantile dystonia-parkinsonism Autosomal dominant polycystic kidney disease Autosomal recessive polycystic kidney disease Late infantile CACH syndrome Benign paroxysmal torticollis of infancy Juvenile or adult CACH syndrome Hypomyelination-congenital cataract syndrome Woodhouse-Sakati syndrome Congenital plasminogen activator inhibitor type 1 deficiency Alexander disease Pelizaeus-Merzbacher disease, connatal form Primary dystonia, DYT4 type Allan-Herndon-Dudley syndrome Autosomal dominant dopa-responsive dystonia Metachromatic leukodystrophy, late infantile form Congenital fibrinogen deficiency Leukoencephalopathy with mild cerebellar ataxia and white matter edema Paroxysmal kinesigenic dyskinesia Paroxysmal exertion-induced dyskinesia Paroxysmal dyskinesia 4H leukodystrophy Congenital prekallikrein deficiency Metachromatic leukodystrophy, juvenile form Hypomyelination with brain stem and spinal cord involvement and leg spasticity Brain dopamine-serotonin vesicular transport disease Pelizaeus-Merzbacher disease, transitional form Infantile Krabbe disease Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Myoclonus-dystonia syndrome Primary dystonia, DYT17 type Metachromatic leukodystrophy, adult form Krabbe disease 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 Hämophilie A Dystonie, primäre, Typ DYT21 Refsum-Krankheit, infantile Form Seltene Blutgerinnungsstörung durch Blutplättchenanomalie Dystonie, oromandibuläre Rett-Syndrom Ovarioleukodystrophie Cree-Leukoenzephalopathie Offene spinale Dysraphie mit Myelomeningozele CADDS Canavan-Krankheit, milde Thrombotische Krankheit hämatologischen Ursprungs, seltene Adrenoleukodystrophie, neonatale Form Seltene thrombotische Störung durch Blutplättchenanomalie Aicardi-Goutières-Syndrom Hämophilie B Dystonia-Aphonie-Syndrom Faktor V-Mangel, kongenitaler Faktor XI-Mangel, kongenitaler Faktor XIII-Mangel, kongenitaler Alpha-2 Antiplasmin-Mangel, kongenitaler Lymphohistiozytose, hämophagozytische, sekundäre Dystonie-Parkinsonismus mit rapidem Beginn Blutgerinnungsstörung, erworbene Seltene Gerinnungsstörung Leukodystrophie unbekannter Ursache Adrenoleukodystrophie, X-chromosomale, zerebrale Form Von-Willebrand-Syndrom Zystische Leukoenzephalopathie ohne Megalenzephalie Acyl-CoA-Oxidase-Mangel, peroxisomaler Pelizaeus-Merzbacher-Krankheit, klassische Form Hypomyelinisierung mit Atrophie der Basalganglien und des Kleinhirns Leukoenzephalopathie, kavitierende progressive Leukoenzephalopathie mit beiderseitigen vorderen Temporallappen-Zysten Ataxia-Teleangiectasia Variante Seltene Störung mit Dystonie und weiteren neurologischen oder systemischen Manifestationen Alexander-Krankheit Typ I Spastische Paraplegie Typ 2 Thrombomodulin-abhängige Blutgerinnungsstörung Infantile Konvulsionen und Choreoathetose Hämorrhagische Krankheit durch Alpha-1-Antitrypsin Pittsburgh-Mutation High-Molecular-Weight Kininogen-Mangel, kongenitaler Pelizaeus-Merzbacher-ähnliche Krankheit mit HSPD1-Genmutationen Odontoleukodystrophie Dystonie, primäre, Typ DYT13 Paroxysmale nicht-kinesiogene Dyskinesie Früh beginnende generalisierte Dystonie der Extremitäten Refsum-Krankheit Neurodegeneratives Syndrom durch zerebrale Folattransportstörung Hämophilie, erworbene CACH-Syndrom Nasu-Hakola-Krankheit Seltene Blutgerinnungsstörung durch konstitutionellen Gerinnungsfaktoren-Defekt Dystonie, primäre, Typ DYT6 Seltene Blutgerinnungsstörung Dystonie, isolierte