Episodic Ataxia, Type 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Slurred speech, Spastic gait, Babinsk... |
OMIM:160120 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia |
OMIM:613227 |
Tremor, Hereditary Essential, 6 |
|
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor |
OMIM:616736 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity |
OMIM:619491 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Dystonia 27 |
|
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Primary Dystonia, Dyt27 Type |
|
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... |
ORPHA:464440 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Melorheostosis With Osteopoikilosis |
|
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... |
OMIM:314250 |
Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Transient hyperphenylalaninemia, Hypertonia, Hyperphenylalaninemia |
OMIM:264070 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... |
OMIM:113900 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Tachycardia |
OMIM:221400 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Progressive spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
Familial Progressive Cardiac Conduction Defect |
|
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure |
ORPHA:871 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Cardiomyopathy, Dilated, 1U |
|
Syncope, Severely reduced left ventricular ejection fraction, First degree atrioventricular block... |
OMIM:613694 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Ventricular Tachycardia, Familial |
|
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor |
OMIM:608687 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
Primary Dystonia, Dyt13 Type |
|
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... |
ORPHA:98807 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... |
OMIM:612877 |
Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
Buschke-Ollendorff Syndrome |
|
Flexion contracture, Osteopoikilosis, Joint stiffness |
OMIM:166700 |
Brugada Syndrome 2 |
|
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... |
OMIM:611777 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Myoclonus, Involuntary movements |
OMIM:611092 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Increased circulating creatine kinase MB isoform, Right ve... |
OMIM:610193 |
Brugada Syndrome 1 |
|
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... |
OMIM:601144 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus |
OMIM:614937 |
Dystonia 23 |
|
Limb dystonia, Torticollis, Axial dystonia, Arrhythmia, Writer's cramp, Head tremor, Myoclonus |
OMIM:614860 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Cardiomyopathy, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... |
OMIM:614561 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:613158 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Sandhoff Disease, Adult Form |
|
Spasticity, Focal dystonia, Elevated circulating creatine kinase concentration, Tremor, Gait atax... |
ORPHA:309169 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign |
OMIM:300911 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Segawa Syndrome, Autosomal Recessive |
|
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... |
OMIM:605407 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, First degree atrioventricular block, Left bu... |
OMIM:613697 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia |
OMIM:618425 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Dementia, Increased bone density w... |
OMIM:136300 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Left bundle branch block, Congestive heart failure, Increased left ventricu... |
OMIM:601493 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... |
OMIM:260300 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... |
OMIM:607688 |
Spinocerebellar Ataxia 43 |
|
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Dystonia, Dopa-Responsive |
|
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... |
OMIM:128230 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... |
OMIM:616053 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Babinski sign, Ataxia, Tremor |
OMIM:611105 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Spinocerebellar Ataxia Type 20 |
|
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... |
ORPHA:101110 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:615048 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Congestive heart failure |
OMIM:260450 |
Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus |
OMIM:616921 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular outflow tract obstruction, Severely reduced left ventri... |
OMIM:613251 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
Van Buchem Disease |
|
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis |
OMIM:239100 |
Isolated Osteopoikilosis |
|
Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones, Joint stiff... |
ORPHA:166119 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria |
OMIM:612437 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Ataxia, Tremor |
OMIM:615945 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block |
OMIM:615616 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... |
OMIM:618920 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Ataxia, Hemiplegia, Increased total bil... |
OMIM:267700 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... |
OMIM:607671 |
Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... |
ORPHA:217607 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... |
OMIM:612098 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Ventricular tachycardia, Hyperammonemia, Tachycardia, Arrhythmia, Elevated circu... |
ORPHA:26793 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Hypertriglyceridemia, Myoclonu... |
OMIM:615924 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Sudden cardiac deat... |
OMIM:617047 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Thickened cortex of bones, Joint stiffness, Arthritis |
ORPHA:564003 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Primary Dystonia, Dyt2 Type |
|
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... |
ORPHA:99657 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... |
OMIM:607317 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Hemiballismus, Tremor, Chorea |
ORPHA:494526 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... |
OMIM:613507 |
Long Qt Syndrome 10 |
|
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... |
OMIM:611819 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... |
OMIM:608758 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:600116 |
Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Hypermanganesemia, Tremor, Bradykinesia, Or... |
ORPHA:521406 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... |
OMIM:619897 |
Dystonia 24 |
|
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia |
OMIM:615034 |
Spinocerebellar Ataxia 38 |
|
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus |
OMIM:615957 |
Mueller-Weiss Syndrome |
|
Knee osteoarthritis, Sclerosis of foot bone, Joint stiffness, Arthritis, Limitation of movement a... |
ORPHA:566943 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... |
OMIM:614049 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... |
OMIM:611302 |
Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Chorea, Congestive heart failure, Resting tremor, Myoclonus, Dilated cardiomyopa... |
ORPHA:324588 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypoproteinemia, Hypertonia |
OMIM:608093 |
Dystonia 16 |
|
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Torticollis, Postural tremor, Bradykinesia |
ORPHA:210571 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
Parkinson Disease 17 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor |
OMIM:614203 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Increased alpha-globulin, Hypercholesterolem... |
ORPHA:86816 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Frequent falls, Nonprogressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Intention tremo... |
ORPHA:314978 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Tremor, Hyperlipidemia, Hypert... |
ORPHA:247585 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... |
OMIM:115195 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Abnormal circulating calcium concentration, Rigidity, Chor... |
OMIM:213600 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616187 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Left anterior fascicular block, Reduced left ventricular ejection fraction, Syncope, Arrhythmia, ... |
OMIM:181350 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Dengue Fever |
|
Hypoproteinemia, Hypotension, Cerebral hemorrhage, Gastrointestinal hemorrhage, Epistaxis |
ORPHA:99828 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... |
ORPHA:420485 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Cardiomyopathy, Arrhythmia, Elevated circulating creatine kinase concentration |
OMIM:300376 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hyperphenylalaninemia, Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia |
OMIM:261630 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia |
OMIM:256300 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones |
OMIM:607634 |
Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... |
ORPHA:98762 |
Long Qt Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613688 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoproteinemia, Ataxia, Hemiplegia, Increased total bilirubin, Hypertriglyceridemia, Tetraplegia... |
OMIM:603553 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:309930 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Myoclonus, Writer's cramp |
OMIM:159900 |
Corticobasal Syndrome |
|
Limb myoclonus, Limb dystonia, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... |
ORPHA:454887 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... |
ORPHA:314632 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Limb hypertonia, Chorea, Congestive heart failure, Myoclonus, Resting tremor, Dilated cardiomyopa... |
OMIM:606703 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Ankle clonus, Tremor, Babinski sign, Truncal ataxia |
OMIM:615768 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Clumsiness, Rig... |
ORPHA:216873 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Cardiomyopathy, Dystonia, Tremor |
OMIM:619651 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Hemiparesis, Ataxia |
OMIM:141500 |
Spinocerebellar Ataxia 18 |
|
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria |
OMIM:607458 |
Ménétrier Disease |
|
Hypoproteinemia, Gastrointestinal hemorrhage, Hypoalbuminemia |
ORPHA:2494 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Right bundle branch block, Elevate... |
ORPHA:206559 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... |
OMIM:606324 |
Dystonia 28, Childhood-Onset |
|
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... |
OMIM:617284 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:300695 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Writer's cramp, Bradykinesia, ... |
OMIM:606159 |
Spinocerebellar Ataxia 12 |
|
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Act... |
OMIM:604326 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
Sick Sinus Syndrome 1 |
|
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... |
OMIM:608567 |
Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
Long Qt Syndrome 14 |
|
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... |
OMIM:616247 |
Dystonia 7, Torsion |
|
Torticollis, Hand tremor, Blepharospasm, Clumsiness, Writer's cramp, Oromandibular dystonia, Tors... |
OMIM:602124 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Anxiety, Irritability, Ventricular arrhythmia, Abnormal left vent... |
ORPHA:36913 |
Osteopetrosis, Autosomal Dominant 2 |
|
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... |
OMIM:166600 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis |
OMIM:122860 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... |
OMIM:615344 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:398063 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Pulmonary embolism, Budd-Chiari syndrome, Hypoalbuminemia |
OMIM:226300 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... |
OMIM:613135 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Urocanic Aciduria |
|
Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Action tremor, Truncal ataxia |
ORPHA:210128 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor, Hyperkalemia |
OMIM:609153 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Paraparesis, Elevated circulating guanidinoacetic acid concentration, Decreased serum cre... |
OMIM:612736 |
Saccharopinuria |
|
Hyperammonemia, Spastic diplegia, Elevated plasma citrulline, Tremor, Gait ataxia, Hypercystinemi... |
ORPHA:3124 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... |
ORPHA:240103 |
Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus, Truncal ataxia |
ORPHA:363710 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Upper motor neuron dy... |
ORPHA:276435 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Bradykinesia, Resting tremor, Dystonia |
OMIM:605909 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Ataxia, Transient hyperphenylalaninemia, Tremor, Choreoathetosis,... |
OMIM:612716 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Ebstein Anomaly |
|
Right bundle branch block, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, At... |
OMIM:224700 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... |
OMIM:140400 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Clonus, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity |
OMIM:600363 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Limb ataxia, Dystonia, Spastic dysarthria, Spastic ataxia, Tremor, Spastic paraplegia, Spastic ga... |
ORPHA:251282 |
Brugada Syndrome 9 |
|
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope |
OMIM:616399 |
Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus |
ORPHA:98763 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Torsion dystonia, Blepharospasm |
OMIM:224500 |
Long Qt Syndrome 6 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613693 |
Parkinson Disease 22, Autosomal Dominant |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia, Resting ... |
OMIM:616710 |
Intermediate Osteopetrosis |
|
Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormality of bone mineral ... |
ORPHA:210110 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Cardiac arrest, Ataxia |
OMIM:618951 |
Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Ataxia, Tremor, Choreoathetosis, Dystonia |
OMIM:612126 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Elevated circulating creatine kinase concentration, Myoclonus, Ataxia |
OMIM:614018 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Arrhythmia, Palpitations, Cardiomyopathy, Abnormal... |
ORPHA:263297 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture |
OMIM:620366 |
Schnitzler Syndrome |
|
Increased bone mineral density, Vasculitis, Arthritis |
ORPHA:37748 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Abnormal pyramidal sign, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Babi... |
OMIM:616479 |
Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
Non Rare In Europe: Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Hypertension, Hyperostosis, Arthri... |
ORPHA:1306 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Fourth heart sound, Right axis deviation, Sinus tachycardia, Elevated jugular venous pressure, El... |
OMIM:255160 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Elevated circulating phytanic acid concentration, Hemiparesis, Ataxia, Increased circ... |
OMIM:614307 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Titubation, Elevated circulating creatine kinase concentration, Tremor, Increased serum p... |
OMIM:619405 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Dysmetria |
OMIM:618387 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign |
OMIM:615362 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Dystonia, Increased circulating very long-chain fatty acid concentration, Ataxia, Tremor, Lower l... |
OMIM:617916 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Spinocerebellar Ataxia 7 |
|
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... |
OMIM:164500 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Spinocerebellar Ataxia 50 |
|
Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Myoclonus, Action tremor |
OMIM:620158 |
Spinocerebellar Ataxia 23 |
|
Limb ataxia, Tremor, Gait ataxia, Babinski sign, Dysmetria |
OMIM:610245 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Hematochezia, Cardiomyopathy, Elevated circulating creatine kinase concentration... |
OMIM:615895 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Spinocerebellar Ataxia 48 |
|
Parkinsonism, Ataxia, Chorea, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria |
OMIM:618093 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Chorea, Spa... |
ORPHA:397946 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... |
OMIM:611875 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Cardiomyopathy, Progressive extrapyramidal movement disorder, Chorea, Resting tremor, Pro... |
ORPHA:401768 |
Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
Brugada Syndrome 7 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... |
OMIM:613120 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Abnormal pyramidal sign, Oculomotor apraxia, Hypercholesterolemia, Ataxia, Elevated circulating a... |
ORPHA:64753 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Cogwheel rigidity, Scissor gait, Bradykinesia, Resting tremor, Babinski... |
ORPHA:363654 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Tremor, Gai... |
OMIM:617145 |
X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Limb dystonia, Hand tremor, Blepharospasm, Parkinsonism with favorable response t... |
ORPHA:53351 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:313200 |
Cystathioninuria |
|
Tremor, Cystathioninemia |
ORPHA:212 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Abnormality of extrapyramidal motor function, Rigidity, Hypermanganesemia, Tremor, ... |
OMIM:613280 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:617836 |
Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis |
OMIM:231095 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Tremor, Myoclonus, Lower limb spasticity, Dysmetria |
OMIM:619028 |
Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Parkinsonism, Ataxia, Tremor, Hypertriglyceridemia, Spastic paraplegia, Increase... |
ORPHA:167 |
Parkinson Disease 21 |
|
Tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:616361 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Hyperphenylalaninemia, Ataxia, Limb hypertonia, Rigidity, Tremor, Bradykinesia, Hyp... |
OMIM:261640 |
Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Mitral regurgitation, Arrhythmia, Palpitations, Aortic re... |
ORPHA:75566 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
Multiple System Atrophy |
|
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Raynaud phenomenon, Progressive cerebellar... |
ORPHA:102 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperkinetic movements, Hyperphenylalaninemia, Limb hypertonia, Rigidity, Tremor, Choreoathetosis... |
OMIM:233910 |
Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Parkinsonism, Eyelid myoclonus, Hemiparesis, Hand tremor, Axial dystonia, Clumsiness,... |
OMIM:612953 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, First degree atrioventricula... |
OMIM:115197 |
Spinocerebellar Ataxia 15 |
|
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Tongue fas... |
OMIM:159950 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Osteolysis, Fractures of the long bones |
OMIM:167250 |
Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Ataxia, Arrhythmia, Hemiplegia/hemiparesis, Dysdiadochokinesis, Tremor, ... |
ORPHA:96 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616366 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Axial dystonia, Limb tremor, Focal dystonia, Writer's cramp, Head tremor, Supraventr... |
ORPHA:420492 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Oculomotor apraxia, Hypercholesterolemia, Ataxia, Elevated circulating creatine kina... |
OMIM:208920 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... |
ORPHA:300751 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Limb ataxia, Ataxia, Tremor, Gait ataxia, Incoordination, Dysmetria |
OMIM:213200 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Ataxia, Tremor |
OMIM:278780 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Limb dystonia, Parkinsonism, Clumsiness, Ankle clonus, Generalized dystonia, Scissor ... |
OMIM:617013 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Eyelid myoclonus, Ataxia |
OMIM:616421 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity |
OMIM:260540 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Incoordination, Dystonia |
OMIM:618049 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Mitral regurgitation, Systolic heart murmur, Right ventricular f... |
ORPHA:99103 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Peripartum Cardiomyopathy |
|
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... |
ORPHA:563 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Myoclonus, Dystonia |
ORPHA:139485 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Tremor, Action tremor, Hypertonia, Dystonia |
OMIM:619738 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... |
ORPHA:90650 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:614251 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Bradykinesia, Dystonia |
ORPHA:306669 |
Pseudohypoparathyroidism Type 1B |
|
Diaphyseal sclerosis, Increased bone mineral density, Anxiety, Irritability, Increased bone densi... |
ORPHA:94089 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Ataxia, Tremor |
OMIM:616494 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Parkinsonism, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoclonus... |
OMIM:618877 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Frequent falls, Right bundle branch block, Elevated circulating creatine kinase concentration |
ORPHA:254361 |
Scorpion Envenomation |
|
Myocarditis, Hyperkinetic movements, Ataxia, Increased circulating creatine kinase MB isoform, Ar... |
ORPHA:466677 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonic spasms, Ataxia, Clumsiness, Chorea, Tremor, Myoclonus, Poor fine motor coor... |
ORPHA:79263 |
Perry Syndrome |
|
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function, Hypotension |
ORPHA:178509 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Gait ataxia, Ataxia |
OMIM:617831 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis |
ORPHA:329284 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Truncal ataxia, Dysmetria |
OMIM:610185 |
Aceruloplasminemia |
|
Parkinsonism, Limb ataxia, Torticollis, Decreased serum iron, Ataxia, Blepharospasm, Decreased ci... |
ORPHA:48818 |
Atrial Septal Defect, Ostium Primum Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Third heart sound, Mitral regurgitati... |
ORPHA:99106 |
Naxos Disease |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, Palpitations, Arrhythmia, Sudde... |
OMIM:601214 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Gait apraxia,... |
OMIM:615157 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis, Hypokalemia, Tachycardia |
OMIM:613239 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Blepharospasm, Speech apraxia, Focal d... |
ORPHA:99750 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor, Bradykinesia, ... |
ORPHA:240085 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Parkinsonism, Hyperphenylalaninemia, Abnormal circulating neopterin concentration, Oculogyric cri... |
ORPHA:1578 |
Osteopetrosis, Autosomal Recessive 1 |
|
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Calvarial osteosclerosis, ... |
OMIM:259700 |
Sneddon Syndrome |
|
Hemiparesis, Hypertension, Intracranial hemorrhage, Chorea, Tremor |
ORPHA:820 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Joint hyperflexibility |
ORPHA:628 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Spasticity, Tetraparesis, Limb dystonia, Abnormal pyramidal sign, Ataxia, Hypertension, Tremor, G... |
ORPHA:363400 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Oculomotor apraxia, Ataxia, Rigidity, Tremor, Choreoathetosis, Dystonia |
OMIM:612438 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Osteoarthritis, Arthritis, Osteomyelitis, Recurrent fractures, Mandib... |
ORPHA:53 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Cerebral palsy, Dystonia |
ORPHA:70594 |
Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Torticollis, Ataxia, Parkinsonism with favorable response to dopaminerg... |
OMIM:606693 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Reduced bone mineral density, Osteoporosis, Limitation of knee mo... |
OMIM:614856 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval |
OMIM:615378 |
Isolated Right Ventricular Hypoplasia |
|
Systolic heart murmur, Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, C... |
ORPHA:439 |
Dysosteosclerosis |
|
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Increased bone mineral density, ... |
ORPHA:1782 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of pr... |
ORPHA:85188 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Autosomal Dominant Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... |
ORPHA:99 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification |
ORPHA:163649 |
Tetanus |
|
Tachycardia, Spasticity of pharyngeal muscles, Hypertension, Rigidity, Elevated circulating creat... |
ORPHA:3299 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dysmetria |
OMIM:614831 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Knee osteoarthritis, Stiff knee, Abnormal epiphyseal ossification... |
ORPHA:93284 |
Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Ga... |
ORPHA:98773 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... |
ORPHA:1329 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Speech apraxia, Poor fine motor coordination, First degree atrioventricular ... |
ORPHA:589821 |
Glutathionuria |
|
Tremor, Action tremor, Dysdiadochokinesis |
OMIM:231950 |
Osteopetrosis, Autosomal Recessive 2 |
|
Diaphyseal sclerosis, Osteopetrosis, Osteomyelitis, Recurrent fractures, Cranial hyperostosis, Ma... |
OMIM:259710 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Pulmonary arterial hypertension, Osteolysis, Pathologic fracture,... |
ORPHA:77259 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Syncope, Palpitations, Arrhythmia, Abnorm... |
ORPHA:99104 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Frequent falls, Limb ataxia, Tremor, Gait ataxia |
OMIM:616719 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Ataxia, Spastic ataxia, Tremor, Spastic gait, Babinski sign |
OMIM:616795 |
Dentatorubral Pallidoluysian Atrophy |
|
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Blepharospasm, Dysdiadochokinesis, Gait ataxi... |
ORPHA:101 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Facial hyperostosis, Coarse metaphyseal trabecularization, Aortic... |
ORPHA:2780 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Gait ataxia, Poor motor coordination, Dysmetria |
ORPHA:1170 |
Myopathy With Extrapyramidal Signs |
|
Frequent falls, Ataxia, Clonus, Clumsiness, Hypervalinemia, Abnormality of extrapyramidal motor f... |
OMIM:615673 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Incoordination |
OMIM:608768 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Elevated circulating creatine kinase co... |
ORPHA:268 |
Gaisböck Syndrome |
|
Increased circulating renin level, Hyperuricemia, Elevated diastolic blood pressure, Hyperprotein... |
ORPHA:90041 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Osteopetrosis |
OMIM:612840 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Cerebral hemorrhage, Tremor, Dystonia |
ORPHA:542310 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Abnormality o... |
ORPHA:352649 |
Myotonic Dystrophy 2 |
|
Palpitations, Elevated circulating creatine kinase concentration, Premature ventricular contracti... |
OMIM:602668 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine |
OMIM:617744 |
Werner Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Hypertension, Congestive heart fai... |
ORPHA:902 |
Peroxisome Biogenesis Disorder 5B |
|
Elevated circulating phytanic acid concentration, Oculomotor apraxia, Ataxia, Tremor, Dysmetria |
OMIM:614867 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic tetraplegia, Parkinsonism, Ataxia, Apraxia, Tremor, Bradykinesia, Spastic paraplegia, Res... |
OMIM:300055 |
Ebstein Malformation Of The Tricuspid Valve |
|
Right bundle branch block, Arrhythmia, Sudden cardiac death, Congestive heart failure, Cerebral i... |
ORPHA:1880 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Oromandibular dystonia,... |
OMIM:128100 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Spontaneous Periodic Hypothermia |
|
Tremor, Arrhythmia, Ataxia |
ORPHA:29822 |
Juvenile Dermatomyositis |
|
Vasculitis, Arrhythmia, Cardiomyopathy, Mucosal telangiectasiae, Elevated circulating creatine ki... |
ORPHA:93672 |
Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Abnormal... |
ORPHA:199351 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Pathologic fracture, Osteomyelitis leading to amputation due to slow healing fractures, Osteopeni... |
OMIM:112250 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Cognitive impairment, Increased skull ossifica... |
OMIM:618476 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Left bundle branch block, Ventricular bigeminy, Elevated circulating creatine kinase ... |
OMIM:610131 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Increased susceptibility to fractures, Flexion con... |
ORPHA:77297 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased bone mineral density, Osteoporosis, Ankylosis, Osteopenia, Recurrent fractures |
OMIM:239000 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Spasticity, Mitral regurgitation, Ataxia, Tricuspid regurgitation, Right bundle branch block, Dys... |
OMIM:619576 |
Liver Disease, Severe Congenital |
|
Hypoproteinemia, Hyperammonemia, Systolic heart murmur, Elevated circulating alpha-fetoprotein co... |
OMIM:619991 |
Behr Syndrome |
|
Frequent falls, Progressive spasticity, Ataxia, Tremor, Babinski sign, Truncal ataxia, Dysmetria |
OMIM:210000 |
Gerstmann-Straussler Disease |
|
Spasticity, Parkinsonism, Limb ataxia, Apraxia, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoc... |
OMIM:137440 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Ataxia, Postural tremor, Tremor, Babinski sign, Dystonia, Dysmetria |
OMIM:607694 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Parkinsonism, Tremor, Congestive heart failure, Resting tremor, Lower limb spasticity |
ORPHA:3077 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... |
ORPHA:94080 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Clonus, Elevated circulating... |
OMIM:619424 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Conjunctival telangiectasia, Elevated c... |
OMIM:606002 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Hand tremor, Tremor, Gait ataxia, Truncal ataxia |
ORPHA:98764 |
Pierson Syndrome |
|
Hypoproteinemia, Hypertension, Retinal hemorrhage |
OMIM:609049 |
Typhoid |
|
Cardiac arrest, Ataxia, Arrhythmia, Tremor, Gastrointestinal hemorrhage, Epistaxis, Hypertonia |
ORPHA:99745 |
Parkinson Disease 8, Autosomal Dominant |
|
Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykin... |
OMIM:607060 |
Nipah Virus Disease |
|
Tremor, Myoclonus, Hypotension |
ORPHA:99825 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration, Ataxia |
ORPHA:158048 |
Hyperoxaluria, Primary, Type I |
|
Raynaud phenomenon, Increased bone mineral density, Pathologic fracture, Intermittent claudicatio... |
OMIM:259900 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Pseudohypoparathyroidism Type 1A |
|
Hyperostosis frontalis interna, Increased bone mineral density, Reduced bone mineral density, Ect... |
ORPHA:79443 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Ectopic ossification, Anxiety, Irritability, Prolonged QT interva... |
ORPHA:79444 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Hypertonia, Rigidity, Tremor |
OMIM:176500 |
Pycnodysostosis |
|
Generalized osteosclerosis, Coronal craniosynostosis, Increased bone mineral density, Osteolytic ... |
ORPHA:763 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Generalized dystonia, Abnormality of e... |
OMIM:614298 |
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Arrhythmia, Hypertension, Elevated circulating creatine kinase co... |
ORPHA:437572 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Ataxia, Tremor, Incoordination |
OMIM:618060 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pulmonary arterial hypertension, Osteolysis, Dementia, Increased ... |
ORPHA:77261 |
Dysosteosclerosis |
|
Sclerosis of hand bone, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased susceptib... |
OMIM:224300 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Irritability, Osteopetrosis, Cranial hyperostosis, Decreased oste... |
OMIM:259720 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Myoclonus, Ataxia, Blepharospasm |
OMIM:607876 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Abnormal T-wave, Right ventricular failure, Syncope, Palpitation... |
ORPHA:70591 |
Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Ataxia, Generalized dystonia, Head titubation, Writer's cramp, Tremor, I... |
OMIM:312080 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Blepharospasm, Axial dystonia, Parkinsonism with favorable... |
ORPHA:240071 |
Histiocytoid Cardiomyopathy |
|
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Supraventricu... |
ORPHA:137675 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis |
OMIM:300894 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Enthesitis, Hypopho... |
ORPHA:289176 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention t... |
OMIM:614381 |
Schwartz-Jampel Syndrome |
|
Increased bone mineral density, Pulmonary arterial hypertension, Arthrogryposis multiplex congeni... |
ORPHA:800 |
Poems Syndrome |
|
Sclerosis of foot bone, Pulmonary arterial hypertension, Sclerosis of hand bone, Sclerosis of sku... |
ORPHA:2905 |
Camurati-Engelmann Disease |
|
Diaphyseal sclerosis, Cortical thickening of long bone diaphyses, Increased bone mineral density,... |
OMIM:131300 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
Thyrotoxic Periodic Paralysis |
|
Palpitations, Transient hypophosphatemia, Impaired myocardial contractility, Second degree atriov... |
ORPHA:79102 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia, Pulmonary arterial hypertension, Hematochezia, Extrahepatic portal hypertension,... |
ORPHA:2929 |
Marbach-Rustad Progeroid Syndrome |
|
Pulmonary insufficiency, Intention tremor, Right bundle branch block |
OMIM:619322 |
Gaucher Disease |
|
Increased bone mineral density, Pulmonary arterial hypertension, Osteolysis, Joint stiffness, Ost... |
ORPHA:355 |
Migraine, Familial Hemiplegic, 2 |
|
Hemiparesis, Apraxia, Hemiplegia, Tremor, Gait ataxia, Episodic ataxia, Dysmetria |
OMIM:602481 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Spasticity, Pseudobulbar paralysis, Tremor, Tetraplegia, Spastic paraplegia, Babinski sign |
OMIM:616586 |
Parkinson Disease, Late-Onset |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor, Dystonia |
OMIM:168600 |
Mercury Poisoning |
|
Hypotension, Hypertension, Hypokalemia, Tremor, Tachycardia, Dystonia |
ORPHA:330021 |
Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration |
ORPHA:29073 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteolysis, Congestive heart failure, Osteomyelitis |
ORPHA:35687 |
Leptospirosis |
|
Hypotension, Arrhythmia, Hyperproteinemia, First degree atrioventricular block, Subconjunctival h... |
ORPHA:509 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Mildly elevated creatine kinase, Vocal cord paralysis |
ORPHA:397744 |
Fabry Disease |
|
Abnormal circulating lipid concentration, Mitral regurgitation, Telangiectasia of the skin, Arrhy... |
ORPHA:324 |
Trichothiodystrophy |
|
Craniosynostosis, Increased bone mineral density, Cardiomyopathy, Osteopenia, Multiple joint cont... |
ORPHA:33364 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Oculomotor apraxia, Blepharospasm, Spastic dysarthria, Rigidity, Tremor, Bradykinesia |
ORPHA:240094 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Tetraparesis, Abnormal pyramidal sign, Spastic gait, Ataxia, Clonus, Upper limb postu... |
ORPHA:99027 |
Primary Hyperoxaluria |
|
Raynaud phenomenon, Generalized osteosclerosis, Heart block, Cardiomyopathy, Intermittent claudic... |
ORPHA:416 |
Eisenmenger Syndrome |
|
Abnormal B-type natriuretic peptide concentration, Tricuspid regurgitation, Supraventricular arrh... |
ORPHA:97214 |
Parkinson Disease 20, Early-Onset |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Eyelid apraxia, Involuntary movements, Dystonia |
OMIM:615530 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Elevated circulating creatine kinase concentration, Bundle branch block, Fasciculati... |
ORPHA:99827 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Facial hypero... |
ORPHA:2658 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Synostosis of carpal bones, Carpal synos... |
ORPHA:90652 |
X-Linked Hypophosphatemia |
|
Rickets, Generalized osteosclerosis, Reduced bone mineral density, Craniosynostosis, Enthesitis, ... |
ORPHA:89936 |
Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Limb hypertonia, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Hypertoni... |
OMIM:618056 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Hyperbilirubinemia, Ataxia |
ORPHA:713 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
Neuroleptic Malignant Syndrome |
|
Hyperuricemia, Hypotension, Tachycardia, Arrhythmia, Oculogyric crisis, Hyperphosphatemia, Hypert... |
ORPHA:94093 |
Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita |
OMIM:259775 |
Alternating Hemiplegia Of Childhood |
|
Tetraparesis, Abnormal pyramidal sign, Abnormal T-wave, Oculomotor apraxia, Ataxia, Episodic hemi... |
ORPHA:2131 |
Noonan Syndrome With Multiple Lentigines |
|
Pulmonic stenosis, Arrhythmia, Bundle branch block, Hypertrophic cardiomyopathy, Myocardial infar... |
ORPHA:500 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Spasticity, Right bundle branch block |
OMIM:618590 |
Serotonin Syndrome |
|
Hypotension, Clonus, Tachycardia, Hypertension, Rigidity, Tremor, Myoclonus, Hypertonia |
ORPHA:43116 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... |
ORPHA:276621 |
Aortic Arch Interruption |
|
Right bundle branch block, Systolic heart murmur, Blood pressure substantially higher in arms tha... |
ORPHA:2299 |
Atypical Werner Syndrome |
|
Increased bone mineral density, Reduced bone mineral density, Sclerosis of hand bone, Progressive... |
ORPHA:79474 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones |
OMIM:127000 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Cocaine Intoxication |
|
Subarachnoid hemorrhage, Prolonged QRS complex, Diffuse alveolar hemorrhage, Hypotension, Tachyca... |
ORPHA:90068 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Desmosterolosis |
|
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand |
OMIM:602398 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Tremor, Transient ischemic attack, Myocardial infarction, Elevated... |
OMIM:274150 |
Multiple System Atrophy 1, Susceptibility To |
|
Parkinsonism, Ataxia, Rigidity, Tremor, Bradykinesia, Orthostatic hypotension, Babinski sign |
OMIM:146500 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... |
ORPHA:216694 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Progressive cerebellar ataxia, Ataxia, Elevated circulating alpha-fe... |
OMIM:208900 |
Williams Syndrome |
|
Increased bone mineral density, Mitral regurgitation, Joint stiffness, Pulmonic stenosis, Osteopo... |
ORPHA:904 |
Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Mitral regurgitation, Sinus tachycardia, Hypertension, Right bun... |
OMIM:614008 |
Sclerosteosis 1 |
|
Cognitive impairment, Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortica... |
OMIM:269500 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Increased susceptibility to fractures, Delayed pubic bone ossific... |
OMIM:119600 |
Leopard Syndrome 1 |
|
Third degree atrioventricular block, Bundle branch block, Pulmonic stenosis, Hypertrophic cardiom... |
OMIM:151100 |
Autosomal Recessive Malignant Osteopetrosis |
|
Craniosynostosis, Reduced bone mineral density, Pulmonary arterial hypertension, Osteopetrosis, R... |
ORPHA:667 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Mitral regurgitation, Right bundle branch block, Pulmonic stenosis, Tricuspid regurgitation |
OMIM:617506 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Blepharospasm, Abnormality of extrapyr... |
OMIM:234200 |
Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Abnormal trabecular bone morphology |
OMIM:612301 |
Simpson-Golabi-Behmel Syndrome |
|
Cardiomyopathy, Bundle branch block, Prolonged QT interval |
ORPHA:373 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy |
OMIM:617403 |
Schinzel-Giedion Midface Retraction Syndrome |
|