Myoclonic Epilepsy, Progressive |
|
Generalized myoclonic seizure |
OMIM:310370 |
Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
Mental Retardation, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... |
OMIM:607628 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:602485 |
Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure ... |
OMIM:617924 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... |
OMIM:607631 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614280 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... |
OMIM:616172 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:616685 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... |
OMIM:616461 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... |
OMIM:604233 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
Spinocerebellar Ataxia Type 4 |
|
Impaired proprioception, Impaired vibratory sensation, Impaired tactile sensation, Motor deterior... |
ORPHA:98765 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Developmental And Epileptic Encephalopathy 9 |
|
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... |
OMIM:300088 |
Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... |
OMIM:604403 |
Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... |
OMIM:254770 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Emotional lability, Depre... |
ORPHA:280397 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... |
OMIM:147630 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... |
OMIM:613060 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... |
OMIM:613863 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... |
OMIM:607682 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Febrile Seizures, Familial, 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:611634 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
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Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:618482 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... |
ORPHA:263458 |
Epilepsy, Familial Temporal Lobe, 4 |
|
Focal impaired awareness seizure, Focal sensory seizure with visual features, Focal aware seizure |
OMIM:611631 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... |
OMIM:600512 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Increased hepatic glycogen... |
ORPHA:293964 |
Seizures, Benign Familial Infantile, 2 |
|
Focal-onset seizure, Generalized-onset seizure |
OMIM:605751 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Severe Primary Trimethylaminuria |
|
Anxiety, Negative affectivity, Fish odor, Aggressive behavior, Emotional lability, Low self estee... |
ORPHA:468726 |
Optic Atrophy 2 |
|
Babinski sign, Tremor, Dysdiadochokinesis |
OMIM:311050 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure |
OMIM:618596 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... |
OMIM:618357 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Ataxia, Slurred speech, Tremor |
OMIM:613227 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Atonic seizure, Febrile seizure (within the age range of 3 months to 6 ... |
OMIM:615744 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:609446 |
Developmental And Epileptic Encephalopathy 57 |
|
Atypical absence seizure, Generalized myoclonic seizure, Seizure |
OMIM:617771 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... |
OMIM:607681 |
Developmental And Epileptic Encephalopathy 94 |
|
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... |
OMIM:615369 |
Episodic Ataxia, Type 1 |
|
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor |
OMIM:160120 |
Dravet Syndrome |
|
Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced seizure, Generalize... |
OMIM:607208 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... |
OMIM:616056 |
Juvenile Myoclonic Epilepsy |
|
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Febrile seizure (within the age r... |
ORPHA:307 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... |
ORPHA:1941 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal impaired awareness ... |
OMIM:617831 |
Benign Familial Infantile Epilepsy |
|
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... |
ORPHA:306 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... |
ORPHA:411593 |
Autism, Susceptibility To, X-Linked 4 |
|
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:300830 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... |
OMIM:614417 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... |
OMIM:615400 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Spinocerebellar Ataxia Type 15/16 |
|
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... |
ORPHA:98769 |
Female Restricted Epilepsy With Intellectual Disability |
|
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... |
ORPHA:101039 |
Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... |
OMIM:262400 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Anxiety, Hyperactivity |
OMIM:617796 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Dementia, Ataxia, Gait disturbance |
ORPHA:2274 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Chorea, Benign Hereditary |
|
Anxiety, Chorea, Gait disturbance |
OMIM:118700 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor |
OMIM:616736 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Irritability, Inability to walk, Hyperactivity |
OMIM:616657 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... |
OMIM:614561 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration |
ORPHA:231249 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Continuous Spikes And Waves During Sleep |
|
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... |
ORPHA:725 |
Hyperlysinemia, Type I |
|
Anemia, Hyperactivity, Hyperlysinemia |
OMIM:238700 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... |
ORPHA:276608 |
Epilepsy, Progressive Myoclonic, 6 |
|
Generalized non-motor (absence) seizure, Seizure, Atonic seizure, Myoclonus |
OMIM:614018 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Fasting hypoglycemia, Excessi... |
ORPHA:324575 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia |
ORPHA:35878 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Diabetes mellitus, Hypertriglyceridemia, Gluc... |
OMIM:610947 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Pancrea... |
ORPHA:79084 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor |
OMIM:158580 |
Choreoathetosis, Familial Inverted |
|
Dementia, Progressive choreoathetosis, Gait disturbance |
OMIM:118750 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... |
ORPHA:171706 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Anxiety, Mental deterioration, Ataxia, Depression, Difficulty walking, Attention defic... |
OMIM:619191 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... |
OMIM:615697 |
Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor |
OMIM:608687 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Babinski sign |
ORPHA:401840 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... |
ORPHA:276580 |
Primary Dystonia, Dyt27 Type |
|
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... |
ORPHA:464440 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Generalized non-motor (absence) seizure, Seizure, Atonic seizure |
OMIM:610293 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Ataxia, Tremor |
OMIM:213000 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... |
ORPHA:766 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor |
OMIM:616921 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor |
OMIM:168100 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... |
ORPHA:276575 |
Developmental And Epileptic Encephalopathy 52 |
|
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Febrile seizur... |
OMIM:617350 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Primary Dystonia, Dyt13 Type |
|
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... |
ORPHA:98807 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314811 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Dystonia, Involuntary movements, Seizure, Myoclonus, Tremor |
OMIM:611092 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure |
ORPHA:79137 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Generalized myoc... |
OMIM:618587 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... |
OMIM:605407 |
Dystonia 27 |
|
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia |
OMIM:616411 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia |
OMIM:608898 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus |
OMIM:613370 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor |
ORPHA:494526 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... |
OMIM:314250 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor |
OMIM:618425 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Postural tremor, Difficulty walking |
ORPHA:85292 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Gen... |
ORPHA:2382 |
Lissencephaly 10 |
|
Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-onset sei... |
OMIM:618873 |
Febrile Seizures, Familial, 4 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... |
OMIM:609253 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... |
ORPHA:79644 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus |
OMIM:254800 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... |
OMIM:619338 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor |
OMIM:617018 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Impaired vibration sensation in the lower limbs, Ataxia, Hypoalbuminemia, I... |
ORPHA:94124 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
Niemann-Pick Disease, Type B |
|
Splenomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL cholesterol con... |
OMIM:607616 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... |
OMIM:603552 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... |
OMIM:608096 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Myoclonus, Tremor |
OMIM:616366 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:306000 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Distal sensory impairment, Ataxia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure |
OMIM:615476 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Spastic paraplegia, Tremor, Gait disturbance |
OMIM:300660 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor |
OMIM:617917 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:619639 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Hydroxylysinuria |
|
Generalized myoclonic seizure |
OMIM:236900 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Dementia, Moto... |
ORPHA:412066 |
Myoclonic Epilepsy Of Infancy |
|
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Febrile seizure (within the a... |
ORPHA:86909 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Ataxia, Tremor |
OMIM:611105 |
Sickle Cell Anemia |
|
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Hypoxemia, Elevated circula... |
ORPHA:232 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Obsessive-Compulsive Disorder |
|
Anxiety, Depression, Skin-picking |
OMIM:164230 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... |
ORPHA:71526 |
Gilles De La Tourette Syndrome |
|
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:137580 |
Episodic Ataxia, Type 5 |
|
Atypical absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mon... |
OMIM:613855 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Jeavons Syndrome |
|
Atonic seizure, Focal seizure with eyelid myoclonia, Visually-induced seizure, Generalized myoclo... |
ORPHA:139431 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor |
OMIM:600116 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hyperactivity, Ataxia, Hypertriglyceridemia, Tremor |
OMIM:615924 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal-onset seizure, Fe... |
ORPHA:36387 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... |
OMIM:619157 |
Parkinson Disease 19A, Juvenile-Onset |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... |
OMIM:615528 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... |
OMIM:260300 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... |
OMIM:267700 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Dystonia 23 |
|
Axial dystonia, Head tremor, Limb dystonia, Gait disturbance, Torticollis, Writer's cramp, Myoclonus |
OMIM:614860 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, Hepat... |
ORPHA:276556 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... |
OMIM:262190 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Resting tremor, Gait disturbance |
OMIM:616710 |
Carnosinemia |
|
Generalized myoclonic seizure |
OMIM:212200 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Difficulty walking, Tremor |
ORPHA:423296 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Abnormal pyramidal sign, Intention tremor, Isometric tremor, Bradykinesia, Ataxia... |
ORPHA:101110 |
Polymicrogyria, Bilateral Temporooccipital |
|
Focal impaired awareness seizure, Seizure, Status epilepticus |
OMIM:612691 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Parkinsonism With Spasticity, X-Linked |
|
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign |
OMIM:300911 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor |
ORPHA:401901 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis, Hypoalbuminem... |
OMIM:616000 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Myoclonus, Tremor |
OMIM:616187 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Splenomegaly, Con... |
OMIM:616860 |
Landau-Kleffner Syndrome |
|
Atypical absence seizure, Focal myoclonic seizure, Non-convulsive status epilepticus without coma... |
ORPHA:98818 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Focal-onset seizure, Paroxysmal dystonia, Seizure, Writer's cram... |
OMIM:608105 |
Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Hepatic steatosis, Hyperinsulinemia, Insulin-resistan... |
ORPHA:280356 |
Developmental And Epileptic Encephalopathy 99 |
|
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Epileptic spasm, ... |
OMIM:619606 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Febrile Seizures, Familial, 11 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:614418 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating C-... |
OMIM:616050 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Focal motor seizure, Generalized non-motor (absence) seizure, Seizure, Status ... |
OMIM:617665 |
Parkinson Disease 17 |
|
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor |
OMIM:614203 |
Primary Dystonia, Dyt2 Type |
|
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... |
ORPHA:99657 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Truncal ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:616127 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Dystonia 16 |
|
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Unsteady gait, Torticollis, P... |
ORPHA:210571 |
Spinocerebellar Ataxia 14 |
|
Dysmetria, Memory impairment, Mental deterioration, Gait ataxia, Progressive cerebellar ataxia, D... |
OMIM:605361 |
Seizures, Benign Familial Infantile, 1 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... |
OMIM:601764 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... |
OMIM:605021 |
Developmental And Epileptic Encephalopathy 67 |
|
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:618141 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia |
OMIM:240900 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Atonic seizure, Generalized myoclonic seizure, Babinski sign, Tremor |
OMIM:612437 |
Refractory Celiac Disease |
|
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Osteoporosis, Abnormal splee... |
ORPHA:398063 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Dystonia, Cardiomyopathy, Myoclonus, Tremor |
OMIM:619647 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Focal-onse... |
OMIM:619317 |
Spastic Ataxia 2, Autosomal Recessive |
|
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... |
OMIM:611302 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Uns... |
ORPHA:98762 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... |
OMIM:613101 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Tremor |
OMIM:615127 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... |
OMIM:607317 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Attention deficit hyperactivity disorder, Shyness |
OMIM:618221 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Chylomicron Retention Disease |
|
Impaired vibratory sensation, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoa... |
OMIM:246700 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Cogwheel rigidity, Gait disturbance, Limb dysmetria, Truncal ataxia, Falls, M... |
ORPHA:363710 |
Insulinoma |
|
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... |
ORPHA:97279 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Hypoalbumi... |
OMIM:209950 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:300801 |
Mahvash Disease |
|
Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Increased g... |
OMIM:619290 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... |
ORPHA:158061 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Eyelid myoclonus, Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Myoclon... |
ORPHA:2590 |
Pandas |
|
Encopresis, Emotional lability, Irritability, Separation insecurity, Claustrophobia, Arthralgia, ... |
ORPHA:66624 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor |
OMIM:610297 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Dysdiadochokinesis, Broad-based ... |
OMIM:616053 |
L-Ferritin Deficiency |
|
Generalized-onset seizure |
OMIM:615604 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Unsteady gait, Limb ataxia, Spasticity, Truncal ataxia, Babinski sign, Ankle clonus |
OMIM:615768 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Hypoalbuminemia, ... |
ORPHA:507 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
Dystonia, Dopa-Responsive |
|
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... |
OMIM:128230 |
Transient Neonatal Diabetes Mellitus |
|
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... |
ORPHA:99886 |
Corticobasal Syndrome |
|
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Akinesia, Limb apraxia, Speech aprax... |
ORPHA:454887 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Choreoathetosis, Hypercholesterolemia, Ataxia, Gait ataxia, Truncal ataxia, Distal sens... |
OMIM:208920 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Spasticity, Seizure, Status epilepticus, Tremor |
OMIM:614307 |
Mody |
|
Glycosuria, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Pancreatic hypoplasia, Hepa... |
ORPHA:552 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Frequent falls, Intention tremor, Spastic dysarthria, Unsteady gait, Nonprogressiv... |
ORPHA:314978 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concent... |
OMIM:615703 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Death in childhood, Cardiomyopathy, Myoclonus, Tremor |
OMIM:619651 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... |
OMIM:603553 |
Lichtenstein-Knorr Syndrome |
|
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia |
OMIM:616291 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Aggressive behavior |
OMIM:618010 |
Spinocerebellar Ataxia Type 35 |
|
Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Torticollis, Limb ataxia... |
ORPHA:276193 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Neutropenia, Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly, Abnormal bone structure |
ORPHA:46532 |
Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Ataxia, Hypoalbuminemia, Hypertriglyceridemia, Lymphopenia |
OMIM:617575 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Microcytic anemia, Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:619013 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Generalized myoclonic seizure |
ORPHA:79156 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:619000 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Broa... |
OMIM:270500 |
Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Gait ataxia, Dysdiadochokinesis,... |
ORPHA:423275 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Bradykinesia, Dysdiadochokinesis |
ORPHA:228169 |
Drug-Induced Lupus Erythematosus |
|
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... |
ORPHA:231111 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Focal-onset seizure, Generalized-onset seizure |
ORPHA:86814 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Hypoalbuminemia |
OMIM:617156 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Apraxia, Ataxia, Spasticity, Tremor |
OMIM:615889 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... |
ORPHA:306692 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Bradykinesia, Postural tremor, Rigidity, Gait disturbance, Babinski sign, Parkinsonism ... |
ORPHA:314632 |
Developmental And Epileptic Encephalopathy 97 |
|
Epileptic spasm, Stereotypical hand wringing, Seizure, Tremor |
OMIM:619561 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... |
OMIM:136120 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... |
ORPHA:158057 |
Adiposis Dolorosa |
|
Chronic pain, Anxiety, Fatigue, Arthralgia, Depression |
OMIM:103200 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity, Prolinuria, Ataxia, Hydroxyprolinuria, Aggressive behavior, Hyper... |
OMIM:239500 |
Bdv Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619326 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia |
OMIM:610717 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Generalized-onset seizure |
OMIM:613722 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... |
OMIM:616516 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Difficulty walking, Tremor |
OMIM:615048 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Tremor, Lower limb sp... |
ORPHA:251282 |
Bilateral Frontoparietal Polymicrogyria |
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Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Bilateral tonic-clonic se... |
ORPHA:101070 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
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Eyelid myoclonus, Atonic seizure, Focal motor seizure, Generalized-onset seizure, Generalized myo... |
ORPHA:178469 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
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Abnormal pyramidal sign, Dysmetria, Intention tremor, Lower limb spasticity, Ataxia, Unsteady gai... |
OMIM:616948 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... |
ORPHA:216873 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612926 |
Isolated Focal Cortical Dysplasia |
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Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
ORPHA:65683 |
Lipodystrophy, Familial Partial, Type 3 |
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Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Typ... |
OMIM:604367 |
Congenital Enterovirus Infection |
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Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Irritability, Hypo... |
ORPHA:292 |
Nephrotic Syndrome, Type 15 |
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Hypoalbuminemia |
OMIM:617609 |
Polyendocrine-Polyneuropathy Syndrome |
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Hypogonadism, Hypoglycemia, Central hypothyroidism |
OMIM:616113 |
Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity |
OMIM:300271 |
Eosinophilic Gastroenteritis |
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Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... |
ORPHA:2070 |
Autosomal Dominant Epilepsy With Auditory Features |
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Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
ORPHA:101046 |
Citrullinemia Type Ii |
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Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated plasma citrulline,... |
ORPHA:247585 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
Beta-Thalassemia |
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Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Irritability, Abnormal ... |
ORPHA:848 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
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Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:617836 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Diabete... |
OMIM:612526 |
Nephrotic Syndrome, Type 9 |
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Hypoalbuminemia |
OMIM:615573 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Aplas... |
OMIM:300635 |
Spinocerebellar Ataxia, X-Linked 1 |
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Action tremor, Ataxia, Intention tremor |
OMIM:302500 |
Glycine Encephalopathy |
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Hyperactivity, Aggressive behavior, Irritability, Recurrent singultus, Impulsivity |
OMIM:605899 |
Migraine, Familial Hemiplegic, 1 |
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Ataxia, Hemiplegia, Hemiparesis, Seizure, Tremor |
OMIM:141500 |
Spastic Paraparesis And Deafness |
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Spastic paraparesis, Tremor |
OMIM:312910 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... |
OMIM:613673 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Ankle clonus, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Scissor gait, Loss of... |
ORPHA:521406 |
Obesity Due To Congenital Leptin Deficiency |
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Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... |
ORPHA:66628 |
Hypertriglyceridemia 1 |
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Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
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Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:144600 |
Adult Neuronal Ceroid Lipofuscinosis |
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Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
Congenital Disorder Of Glycosylation, Type Ih |
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Anemia, Thrombocytopenia, Hypoalbuminemia |
OMIM:608104 |
Dravet Syndrome |
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Photosensitive myoclonic seizure, Atypical absence seizure, Focal hemiclonic seizure, Complex feb... |
ORPHA:33069 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
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Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor |
OMIM:615362 |
Tremor, Hereditary Essential, 2 |
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Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Spinocerebellar Ataxia 18 |
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Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor |
OMIM:607458 |
Spinocerebellar Ataxia Type 28 |
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Kinetic tremor, Parkinsonism, Dystonia, Head tremor, Limb dystonia, Gait ataxia, Rigidity, Spasti... |
ORPHA:101109 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Ret... |
OMIM:274150 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
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Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (ab... |
OMIM:619616 |
Behr Syndrome |
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Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, Tremor |
OMIM:210000 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
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Hyperactivity, Decreased body weight |
OMIM:616311 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... |
OMIM:235400 |
Seizures, Benign Familial Infantile, 3 |
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Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... |
OMIM:607745 |
Bilateral Generalized Polymicrogyria |
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Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal... |
ORPHA:208447 |