Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas... |
OMIM:160120 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia |
OMIM:264070 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem... |
ORPHA:309169 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements |
OMIM:611092 |
Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Tremor, Elevated circulating creatine kinase concentration |
OMIM:615048 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... |
OMIM:614561 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements |
OMIM:611031 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... |
OMIM:616053 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements |
OMIM:616921 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hypertriglyceridemi... |
OMIM:615924 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Hypermanganesemia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, O... |
ORPHA:521406 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Head tremor, Axial dystonia |
OMIM:614860 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa... |
OMIM:619405 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... |
ORPHA:99657 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Hemiballismus, Frequent falls |
ORPHA:494526 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, ... |
OMIM:213600 |
Dystonia 24 |
|
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia |
OMIM:615034 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
Saccharopinuria |
|
Gait ataxia, Hyperlysinemia, Spastic diplegia, Abnormality of circulating enzyme level, Hyperammo... |
ORPHA:3124 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis, Hyperkalemia |
OMIM:609153 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia |
OMIM:614203 |
Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Bradykinesia |
ORPHA:210571 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Tremor, Myoclonus |
OMIM:159900 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Tremor, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:614018 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration, Ataxia |
ORPHA:158048 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Resting tremor |
OMIM:616710 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
Myopathy, spheroid body |
|
Tremor, Elevated circulating creatine kinase concentration |
OMIM:182920 |
Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Upper motor neuron dysfunction, Elevated circulating creatine kinase concentration, Tremor, Tongu... |
ORPHA:276435 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... |
ORPHA:420485 |
Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Abnormal circulating histidine concentration |
ORPHA:210128 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor |
OMIM:618387 |
Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... |
ORPHA:454887 |
Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612126 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Tremor, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor |
OMIM:615768 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, U... |
ORPHA:216873 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor,... |
OMIM:612716 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Tetraplegia, Increased VLDL cholesterol concentration, Hemiplegia, Ata... |
OMIM:267700 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Tremor, Hemiplegia |
OMIM:141500 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... |
OMIM:604326 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... |
ORPHA:90041 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni... |
OMIM:617284 |
Dystonia 7, Torsion |
|
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... |
OMIM:602124 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Tremor |
OMIM:615400 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Rigidity, Paraparesis, Myoclonus, Decreased serum creatinine, Ataxia, Elevated circulating guanid... |
OMIM:612736 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria |
ORPHA:363710 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Dystonia, Bradykinesia |
OMIM:605909 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulating ... |
OMIM:614307 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus |
OMIM:600363 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Abnormal pyramidal sign, Postural tremor, Oculomotor apraxia, Choreoathetosis, Ataxia, Elevated c... |
ORPHA:64753 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... |
ORPHA:251282 |
Cystathioninuria |
|
Tremor, Cystathioninemia |
ORPHA:212 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... |
ORPHA:240103 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia |
ORPHA:98763 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypoproteinemia, Hypertonia |
OMIM:608093 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis |
OMIM:167800 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Increased circulating very long-chain fatty acid concentration, Ataxia, Dysmetria, Tremor, Lower ... |
OMIM:617916 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:615935 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Elevated circulating creatine kinase concentration, Tremor, Frequent falls, Tongue fas... |
OMIM:159950 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Dystonia, Bradykinesia |
OMIM:128235 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor, Dystonia |
OMIM:619651 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Hypermanganesemia, Increased total iron binding capacity, Parkinson... |
OMIM:613280 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Tremor, Hyperlipi... |
ORPHA:247585 |
Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... |
OMIM:612953 |
Spinocerebellar Ataxia 50 |
|
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor |
OMIM:620158 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... |
ORPHA:139507 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor |
OMIM:615362 |
Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
Spinocerebellar Ataxia 23 |
|
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:610245 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia |
OMIM:618093 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Abnormal circulating neopterin concentration, Hy... |
ORPHA:1578 |
Proximal Myopathy With Extrapyramidal Signs |
|
Chorea, Resting tremor, Ataxia, Mildly elevated creatine kinase, Progressive extrapyramidal movem... |
ORPHA:401768 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... |
OMIM:606703 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Tetraplegia, Hemiplegia, Ataxia, Increased circulating ferritin concen... |
OMIM:603553 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Elevated circulatin... |
OMIM:208920 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Dystonia |
ORPHA:324588 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor |
OMIM:613608 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hyperkinetic movements... |
OMIM:233910 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Ataxia, Tremor, ... |
OMIM:261640 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... |
ORPHA:397946 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Ataxia |
OMIM:617917 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... |
ORPHA:363654 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia... |
OMIM:617145 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism with favorable resp... |
ORPHA:53351 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction |
OMIM:612227 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Limb fasciculations, Tremor, Elevated circulating creatine kinase concentration |
ORPHA:90117 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Spasticity, Ankle clonus, Parkinsonism, Limb dystonia, Clumsiness, Babinski si... |
OMIM:617013 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism |
ORPHA:2849 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity |
OMIM:619028 |
Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Annular pancreas, Hypoplasia of the gallbladder, Extrahepatic biliary duct... |
OMIM:601346 |
Spinocerebellar Ataxia 15 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor |
OMIM:606658 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
Parkinson-Dementia Syndrome |
|
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Tremor, Dystonia |
OMIM:618049 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia |
ORPHA:139485 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor |
OMIM:213200 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:614251 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Dystonia, Bradykinesia |
ORPHA:306669 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polysplenia, Polycystic liver disease |
OMIM:211890 |
Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... |
OMIM:615157 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Spasticity, Tremor, Myoclonus |
OMIM:616494 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements, Dystonia |
OMIM:619738 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... |
ORPHA:79263 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia |
ORPHA:329284 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo... |
OMIM:618877 |
Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Aceruloplasminemia, Parkinsonism, Rigidity, Involuntary movem... |
ORPHA:48818 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Neuroferritinopathy |
|
Chorea, Blepharospasm, Resting tremor, Parkinsonism, Writer's cramp, Palatal tremor, Babinski sig... |
ORPHA:157846 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Dystonia, Brad... |
ORPHA:240085 |
Adult-Onset Dystonia-Parkinsonism |
|
Abnormal circulating creatine kinase concentration, Spasticity, Rigidity, Eyelid apraxia, Clumsin... |
ORPHA:199351 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... |
OMIM:606693 |
Myopathy With Extrapyramidal Signs |
|
Chorea, Hyperlysinemia, Clumsiness, Abnormality of extrapyramidal motor function, Choreoathetosis... |
OMIM:615673 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:619473 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612438 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Neonatal death, Polys... |
OMIM:208540 |
Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... |
ORPHA:99 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Dystonia, Bradykinesia |
ORPHA:70594 |
Peroxisome Biogenesis Disorder 5B |
|
Elevated circulating phytanic acid concentration, Oculomotor apraxia, Ataxia, Dysmetria, Tremor |
OMIM:614867 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Parkinsonism, Rigidity, Oculom... |
ORPHA:99750 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Limb dystonia, Myoclonus, Poor motor coordinati... |
ORPHA:363400 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Tremor, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Glutathionuria |
|
Tremor, Action tremor, Dysdiadochokinesis |
OMIM:231950 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebell... |
ORPHA:98773 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Limb ataxia, Tremor, Frequent falls |
OMIM:616719 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Ataxia, Babinski sign, Tremor |
OMIM:616795 |
Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... |
ORPHA:101 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Cholestasis, Annular ... |
OMIM:615710 |
Hereditary Chronic Pancreatitis |
|
Recurrent pancreatitis, Jaundice, Pancreatic calcification |
ORPHA:676 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia |
OMIM:608768 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor |
ORPHA:1170 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Ataxia, Spastic tetraparesis,... |
ORPHA:352649 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, Tremor, Hypertonia, ... |
OMIM:128100 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Oculomotor apraxia, Limb a... |
OMIM:606002 |
Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Dysmetria, Tremor, H... |
ORPHA:96 |
Matthew-Wood Syndrome |
|
Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas, Cryptorchidism, Annular pancreas |
ORPHA:2470 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Chédiak-Higashi Syndrome |
|
Parkinsonism, Ataxia, Spastic paraplegia, Increased circulating ferritin concentration, Hypoprote... |
ORPHA:167 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... |
OMIM:614298 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia, Choreoathetosis, Ataxia... |
OMIM:300055 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Hypokalemia, Tremor |
OMIM:613239 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... |
OMIM:137440 |
Behr Syndrome |
|
Progressive spasticity, Truncal ataxia, Ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls |
OMIM:210000 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia |
OMIM:607694 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Truncal ataxia, Hand tremor, Limb ataxia, Tremor |
ORPHA:98764 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607060 |
Tetanus |
|
Rigidity, Elevated circulating creatine kinase concentration, Tremor, Hypertonia, Opisthotonus, S... |
ORPHA:3299 |
Perry Syndrome |
|
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism |
ORPHA:178509 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Mildly elevated creatine kinase |
ORPHA:397744 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Rigidity, Spasticity, Tremor, Hypertonia |
OMIM:176500 |
Igg4-Related Thyroid Disease |
|
Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Pancreatic fibrosis, Sialadenit... |
ORPHA:64744 |
Classic Phenylketonuria |
|
Hyperphenylalaninemia, Hemiplegia, Tremor, Paraplegia, Hypertonia |
ORPHA:79254 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Myoclonus, Blepharospasm, Ataxia, Tremor |
OMIM:607876 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor |
OMIM:618060 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Blepharospasm, Parkinsonism, Parkinsonism with favorable response to dop... |
ORPHA:240071 |
Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Writer's cramp, Choreoathetosis, Ataxia, Progressive spastic quadriplegi... |
OMIM:312080 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor, ... |
OMIM:614381 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia |
OMIM:300894 |
Migraine, Familial Hemiplegic, 2 |
|
Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor |
OMIM:602481 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia |
OMIM:168600 |
Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Aplasia/Hypoplasia of the pancreas, Hepatomegaly, Exocrine pancreatic insufficiency, Hyperechogen... |
ORPHA:456312 |
Igg4-Related Submandibular Gland Disease |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Cholangitis, Abnormality of the submandibular... |
ORPHA:449432 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Tremor, Ataxia |
ORPHA:713 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Spasticity, Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Tetraplegia |
OMIM:616586 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration |
ORPHA:79095 |
Parkinson Disease 20, Early-Onset |
|
Parkinsonism, Rigidity, Eyelid apraxia, Tremor, Involuntary movements, Dystonia, Bradykinesia |
OMIM:615530 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Poor fine motor coordination, Exaggerated startle response, ... |
ORPHA:845 |
Multiple Endocrine Neoplasia Type 4 |
|
Extrahepatic cholestasis, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Increased ci... |
ORPHA:276152 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Rigidity, Oculomotor apraxia, Spastic dysarthria, Tremor, Bradykinesia |
ORPHA:240094 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Spastic gait, Dysdiadochokinesis, Upper limb po... |
ORPHA:99027 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Hepatomegaly, Hepatic cysts, Portal hype... |
OMIM:263200 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly |
OMIM:200995 |
Shwachman-Diamond Syndrome 2 |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly |
OMIM:617941 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Clonus, Tremor, Elevated circulating creatine kinase concentration |
OMIM:619424 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Chorea, Truncal ataxia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hyper... |
OMIM:615356 |
Liver Disease, Severe Congenital |
|
Poor fine motor coordination, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubi... |
OMIM:619991 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hepatocellular carcinoma, Pancreatic fibrosis, Hepatomegaly, Pancreatitis |
OMIM:232220 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Hepatic fibrosis, Jaundice, Polycystic liver disease, Bile duct proliferation, ... |
OMIM:208500 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Biliary cirrhosis, Hepatosplenomegaly, Bile duct proliferation, Cholestasis, Po... |
OMIM:267010 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Annular pancreas |
ORPHA:210122 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology |
ORPHA:1190 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly, Exocrine pancreatic insuf... |
OMIM:616263 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification |
ORPHA:677 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Abnormality of the pancreas, Hepatomegaly |
ORPHA:1318 |
Ataxia-Telangiectasia |
|
Dysdiadochokinesis, Myoclonus, Choreoathetosis, Ataxia, Elevated circulating alpha-fetoprotein co... |
OMIM:208900 |
Bohring-Opitz Syndrome |
|
Hyperechogenic pancreas, Supernumerary nipple |
OMIM:605039 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... |
OMIM:610199 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas |
OMIM:618162 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Jaundice, Abnor... |
ORPHA:93111 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Respiratory paralysis, Transient hypophosphatemia, Paralysis, Hyperkalemia,... |
ORPHA:79102 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Hepatic hemangioma, Pheochromocytoma |
OMIM:193300 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Pancreatic fibrosis, Macronodular cirrhosis, Hepatomegaly |
OMIM:557000 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Pancreatic fibrosis, Accessory spleen, Cryptorchidism, Cystic liver d... |
ORPHA:564 |
Multiple System Atrophy 1, Susceptibility To |
|
Parkinsonism, Rigidity, Ataxia, Babinski sign, Tremor, Bradykinesia |
OMIM:146500 |
Pearson Syndrome |
|
Abnormality of the liver, Decreased response to growth hormone stimulation test, Macronodular cir... |
ORPHA:699 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Eyelid apraxia, Abnor... |
OMIM:234200 |
17Q12 Microdeletion Syndrome |
|
Pancreatic aplasia, Cryptorchidism |
ORPHA:261265 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Hepatic cysts, Polycystic liver disease, Pituitary growth hormone cell adenoma |
ORPHA:730 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas |
ORPHA:488642 |
Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism |
OMIM:147791 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Pancreatic fibrosis |
OMIM:263520 |
Feingold Syndrome 1 |
|
Asplenia, Polysplenia, Accessory spleen, Annular pancreas |
OMIM:164280 |
Beckwith-Wiedemann Syndrome |
|
Hepatoblastoma, Pseudohypoparathyroidism, Hepatomegaly, Cryptorchidism, Exocrine pancreatic insuf... |
ORPHA:116 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Cryptorchidism |
OMIM:268400 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Cryptorchidism |
OMIM:227646 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
Trisomy 8P |
|
Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:264450 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Distal Monosomy 12Q |
|
Unilateral cryptorchidism, Biliary atresia, Pituitary adenoma, Annular pancreas |
ORPHA:96149 |
Fryns Syndrome |
|
Polysplenia, Stillbirth, Ectopic pancreatic tissue, Cryptorchidism |
OMIM:229850 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Annular pancreas, Cryptorchidism |
OMIM:616975 |
Autosomal Recessive Polycystic Kidney Disease |
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Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... |
ORPHA:731 |
Mody |
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Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Hepatocellular adenoma |
ORPHA:552 |
Jacobsen Syndrome |
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Annular pancreas, Cryptorchidism |
ORPHA:2308 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Asplenia, Neonatal death, Annular pancreas |
OMIM:265380 |
Schinzel-Giedion Syndrome |
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Streak ovary, Hepatoblastoma, Annular pancreas |
ORPHA:798 |
1P36 Deletion Syndrome |
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Abnormality of the liver, Hepatic steatosis, Cryptorchidism, Annular pancreas, Abnormality of the... |
ORPHA:1606 |
Type 2 Diabetes Mellitus |
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OMIM:125853 |
Maturity-Onset Diabetes Of The Young, Type 9 |
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OMIM:612225 |