SE-ATLAS

4H leukodystrophy Acquired hemophilia Acquired prothrombin deficiency Acquired von Willebrand syndrome Adrenomyeloneuropathy Adult Krabbe disease Adult-onset autosomal dominant leukodystrophy Adult-onset cervical dystonia, DYT23 type Adult-onset dystonia-parkinsonism Aicardi-Goutières syndrome Alexander disease Alexander disease type I Alexander disease type II Allan-Herndon-Dudley syndrome Ataxia-telangiectasia variant Autosomal dominant dopa-responsive dystonia Autosomal dominant focal dystonia, DYT25 type Autosomal dominant polycystic kidney disease Autosomal recessive dopa-responsive dystonia Autosomal recessive polycystic kidney disease Benign paroxysmal torticollis of infancy Blepharospasm-oromandibular dystonia syndrome Brain dopamine-serotonin vesicular transport disease CACH syndrome CADDS Canavan disease Cerebrotendinous xanthomatosis Combined cervical dystonia Combined deficiency of factor V and factor VIII Combined dystonia Congenital alpha2-antiplasmin deficiency Congenital factor V deficiency Congenital factor XI deficiency Congenital factor XIII deficiency Congenital fibrinogen deficiency Congenital high-molecular-weight kininogen deficiency Congenital or early infantile CACH syndrome Congenital plasminogen activator inhibitor type 1 deficiency Congenital prekallikrein deficiency Congenital vitamin K-dependent coagulation factors deficiency Cranio-cervical dystonia with laryngeal and upper-limb involvement Cree leukoencephalopathy Cystic leukoencephalopathy without megalencephaly Developmental malformations-deafness-dystonia syndrome Dopa-responsive dystonia Dopa-responsive dystonia due to sepiapterin reductase deficiency Dystonia 16 Dystonia-aphonia syndrome Early-onset generalized limb-onset dystonia East Texas bleeding disorder Focal, segmental or multifocal dystonia Generalized isolated dystonia Hemidystonia-hemiatrophy syndrome Hemophagocytic syndrome Hemophilia Hemophilia A Hemophilia B Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Hypomyelination with atrophy of basal ganglia and cerebellum Hypomyelination with brain stem and spinal cord involvement and leg spasticity Hypomyelination-congenital cataract syndrome Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Infantile Krabbe disease Infantile Refsum disease Infantile convulsions and choreoathetosis Infantile dystonia-parkinsonism Infantile epileptic-dyskinetic encephalopathy Isolated dystonia Juvenile or adult CACH syndrome Krabbe disease Late infantile CACH syndrome Late-infantile/juvenile Krabbe disease Leukodystrophy Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Leukoencephalopathy with mild cerebellar ataxia and white matter edema Leukoencephalopathy-dystonia-motor neuropathy syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Megalencephalic leukoencephalopathy with subcortical cysts Metachromatic leukodystrophy Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Mild Canavan disease Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Myoclonus-dystonia syndrome Nasu-Hakola disease Neonatal adrenoleukodystrophy Neurodegenerative syndrome due to cerebral folate transport deficiency Null syndrome Odontoleukodystrophy Open spinal dysraphism with a myelomeningocele Oromandibular dystonia Ovarioleukodystrophy Paroxysmal dyskinesia Paroxysmal dystonia Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Paroxysmal exertion-induced dyskinesia Paroxysmal kinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease, classic form Pelizaeus-Merzbacher disease, connatal form Pelizaeus-Merzbacher disease, transitional form Pelizaeus-Merzbacher-like disease Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Pelizaeus-Merzbacher-like disease due to GJC2 mutation Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Peroxisomal acyl-CoA oxidase deficiency Peroxisome biogenesis disorder Persistent combined dystonia Primary dystonia, DYT13 type Primary dystonia, DYT17 type Primary dystonia, DYT2 type Primary dystonia, DYT21 type Primary dystonia, DYT4 type Primary dystonia, DYT6 type Primary hemophagocytic lymphohistiocytosis Progressive cavitating leukoencephalopathy Rapid-onset dystonia-parkinsonism Rare coagulation disorder Rare disorder with dystonia and other neurologic or systemic manifestation Rare dystonia Rare hemorrhagic disorder Rare hemorrhagic disorder due to a coagulation factors defect Rare hemorrhagic disorder due to a constitutional coagulation factors defect Rare hemorrhagic disorder due to a constitutional platelet anomaly Rare hemorrhagic disorder due to a platelet anomaly Rare hemorrhagic disorder due to an acquired coagulation factor defect Rare hemorrhagic disorder due to an acquired platelet anomaly Rare thrombotic disease of hematologic origin Rare thrombotic disorder due to a coagulation factors defect Rare thrombotic disorder due to a platelet anomaly Ravine syndrome Refsum disease Rett syndrome Secondary hemophagocytic lymphohistiocytosis Severe Canavan disease Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Spastic paraplegia type 2 Thrombomodulin-related bleeding disorder Unknown leukodystrophy Von Willebrand disease Woodhouse-Sakati syndrome X-linked adrenoleukodystrophy X-linked cerebral adrenoleukodystrophy X-linked dystonia-parkinsonism Zellweger syndrome