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 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