Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral... |
OMIM:615127 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized sp... |
OMIM:601068 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Myoclonic seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Tonic seizure, Bilateral t... |
OMIM:619964 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, ... |
OMIM:613608 |
Chorea, Benign Hereditary |
|
Chorea, Gait disturbance, Dementia, Anxiety |
OMIM:118700 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal aware seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-i... |
OMIM:614417 |
Infantile Spasms Syndrome |
|
Hypsarrhythmia, Myoclonus, Infantile spasms |
ORPHA:3451 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Myoclonus, Interictal epileptiform activity, Bilatera... |
OMIM:615400 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Depression, An... |
ORPHA:280397 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Ataxia, Bilateral ton... |
OMIM:616187 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
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Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes |
OMIM:611364 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
Short Stature Due To Ghsr Deficiency |
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Decreased body weight, Short stature, Abdominal pain, Abnormality of body weight, Delayed puberty... |
ORPHA:314811 |
Continuous Spikes And Waves During Sleep |
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EEG with centrotemporal focal spike waves, Typical absence seizure, Seizure, Focal motor seizure,... |
ORPHA:725 |
Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Hypsarrhythmia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se... |
OMIM:615006 |
Progressive Myoclonic Epilepsy Type 1 |
|
EEG with polyspike wave complexes, Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Inten... |
ORPHA:308 |
Benign Adult Familial Myoclonic Epilepsy |
|
Generalized-onset seizure, EEG abnormality, Focal-onset seizure, Myoclonus, Hand tremor |
ORPHA:86814 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Tr... |
OMIM:618587 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal motor seizure, Myoclonus, Hand tremor, Bilateral tonic-clonic seizure, Focal hemifacial clo... |
OMIM:608105 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, EEG abnormality, Truncal ataxia, Increased serum serotonin, Bilateral tonic-clonic seizure |
OMIM:608636 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... |
OMIM:254770 |
Developmental And Epileptic Encephalopathy 12 |
|
Spasticity, Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, E... |
OMIM:613722 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
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EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Ataxia, Bilateral... |
OMIM:254800 |
Developmental And Epileptic Encephalopathy 104 |
|
Seizure, Hypsarrhythmia, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal imp... |
OMIM:619970 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Multifocal epileptiform discharges... |
OMIM:615369 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, EEG abnormality, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic s... |
OMIM:617391 |
Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... |
ORPHA:139431 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonic seizure, Chorea, Spasticity, Seizure, Hypsarrhythmia, Myoclonus, Bilateral tonic-clonic... |
OMIM:616139 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Chorea, Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis |
OMIM:615483 |
Hereditary Geniospasm |
|
Chin myoclonus, Intention tremor, EEG abnormality |
ORPHA:53372 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, EEG abnormality |
OMIM:614115 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater... |
OMIM:613721 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Aggressive behavior, Akinesia, Truncal ataxia, Limb ataxia, Gait disturbance, Diffic... |
ORPHA:98764 |
Developmental And Epileptic Encephalopathy 53 |
|
Myoclonic seizure, Seizure, Spastic tetraplegia, Hypsarrhythmia, Tonic seizure, Bilateral tonic-c... |
OMIM:617389 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Myoclonic seizure, Seizure, EEG abnormality, Generalized myoclonic seizure, Ataxia, ... |
OMIM:617831 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure with focal onset, Seizu... |
OMIM:245570 |
Epilepsy, Progressive Myoclonic, 11 |
|
Seizure, Rigidity, Myoclonus, Ataxia, Giant somatosensory evoked potentials, Intention tremor |
OMIM:618876 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus... |
OMIM:162350 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Myoclonus, Seizure, EEG abnormality |
OMIM:600143 |
Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Hypsarrhythmia, Type I diabet... |
OMIM:618856 |
Creutzfeldt-Jakob Disease |
|
Gait ataxia, Apathy, Dementia, Depression, Anxiety, Irritability, Memory impairment |
OMIM:123400 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, EEG abnormality |
OMIM:617643 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Status epilepticus, EEG abnormality, Involuntary movements |
OMIM:617171 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, EEG with generalized epileptiform disch... |
ORPHA:163721 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Atonic seizure, Kinetic tremor, Involuntary movements |
OMIM:611092 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... |
OMIM:616056 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
ORPHA:101046 |
Lennox-Gastaut Syndrome |
|
Generalized tonic seizure, EEG abnormality, Focal-onset seizure, Myoclonus, Generalized myoclonic... |
ORPHA:2382 |
Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... |
OMIM:613855 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Atonic s... |
OMIM:614018 |
Centralopathic Epilepsy |
|
EEG with centrotemporal focal spike waves, Nocturnal seizures, Bilateral tonic-clonic seizure wit... |
OMIM:117100 |
Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, EEG abnormality |
OMIM:610003 |
Epilepsy, Pyridoxine-Dependent |
|
EEG with burst suppression, Generalized myoclonic seizure, Status epilepticus, Clonic seizure, Bi... |
OMIM:266100 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia |
ORPHA:22 |
Early Myoclonic Encephalopathy |
|
Focal motor seizure, EEG abnormality, Focal seizure with eyelid myoclonia, Hypsarrhythmia, Myoclo... |
ORPHA:1935 |
Epilepsy, Progressive Myoclonic, 8 |
|
Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Bilateral tonic-clonic seizure, EEG with... |
OMIM:616230 |
Hypokalemic Periodic Paralysis |
|
Respiratory paralysis, Exercise-induced muscle fatigue, Paralysis, Myotonia, Postprandial hypergl... |
ORPHA:681 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Inappropriate behavior, Cognitive impairment, Ataxia, Depression, Anxiety, Memory impairment |
ORPHA:401901 |
Epilepsy, Progressive Myoclonic, 12 |
|
Anxiety, Ataxia, Dysmetria, Difficulty walking, Depression, Mental deterioration |
OMIM:619191 |
Familial Focal Epilepsy With Variable Foci |
|
Focal-onset seizure, Hypsarrhythmia, Interictal EEG abnormality, Multifocal epileptiform discharg... |
ORPHA:98820 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... |
ORPHA:1941 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Short Stature Due To Partial Ghr Deficiency |
|
Short stature, Delayed puberty, Decreased serum insulin-like growth factor 1, Hypoglycemia, Growt... |
ORPHA:314802 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Abnormal nervous system electrophysiology, Seizure, Myoclonus |
OMIM:204500 |
Huntington Disease-Like 1 |
|
Chorea, Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait |
OMIM:603218 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... |
OMIM:600669 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia |
OMIM:208700 |
Huntington Disease-Like 2 |
|
Chorea, Inertia, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, Memor... |
OMIM:606438 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic... |
OMIM:616540 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Dementia, Anxiety |
ORPHA:494541 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Short stature, Impaired growth-hormone response to insulin stimulation test, Adre... |
OMIM:262700 |
Hemimegalencephaly |
|
Seizure, Focal motor seizure, EEG with polyspike wave complexes, EEG with burst suppression, EEG ... |
ORPHA:99802 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608762 |
Developmental And Epileptic Encephalopathy 69 |
|
Spastic tetraplegia, EEG abnormality, Hypsarrhythmia, Myoclonus, Status epilepticus, Hyperkinetic... |
OMIM:618285 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic seizure, Chorea, EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Multifoc... |
OMIM:619317 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Benign Familial Neonatal Epilepsy |
|
Limb myoclonus, Generalized tonic seizure, Increased theta frequency activity in EEG, Focal-onset... |
ORPHA:1949 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... |
OMIM:616461 |
Developmental And Epileptic Encephalopathy 59 |
|
Hypsarrhythmia, Multifocal epileptiform discharges, Focal clonic seizure, Ataxia, Tonic seizure, ... |
OMIM:617904 |
Developmental And Epileptic Encephalopathy 13 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:614558 |
Developmental And Epileptic Encephalopathy 42 |
|
Myoclonic seizure, EEG abnormality, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-c... |
OMIM:617106 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus, Seizure |
OMIM:217200 |
Myoclonic Epilepsy Of Infancy |
|
Poor hand-eye coordination, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... |
ORPHA:86909 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... |
OMIM:204300 |
Unilateral Hemispheric Polymicrogyria |
|
Hemiparesis, Focal-onset seizure, Generalized myoclonic seizure, Focal atonic seizure, Bilateral ... |
ORPHA:101071 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Sync... |
ORPHA:324575 |
Progressive Myoclonic Epilepsy Type 3 |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... |
ORPHA:263516 |
Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Hypsarrhythmia, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Infant... |
OMIM:617113 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Reduced circulating growth hormone concentration, Severe short stature, Decreased serum insulin-l... |
OMIM:262400 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
OMIM:618357 |
Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... |
ORPHA:307 |
Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... |
OMIM:300088 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Hypogonadism, Ataxia, Hypoglycemia, Postnatal growth retar... |
OMIM:616113 |
Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... |
OMIM:607208 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized... |
OMIM:607876 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Dravet Syndrome |
|
Poor fine motor coordination, Generalized clonic seizure, Epilepsia partialis continua, Focal-ons... |
ORPHA:33069 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Seizure, Diabetic ketoacidosis, Maternal di... |
ORPHA:99886 |
Developmental And Epileptic Encephalopathy 32 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo... |
OMIM:616366 |
Developmental And Epileptic Encephalopathy 37 |
|
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Focal hemiclonic seizure, Bilateral ton... |
OMIM:616981 |
Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Hypsarrhythmia, Incoordination, Bilateral to... |
OMIM:616409 |
Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic s... |
OMIM:618141 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... |
ORPHA:171706 |
Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Seizure, EEG abnormality, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia,... |
OMIM:606777 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-clonic se... |
OMIM:607631 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Tremor, Atonic seizure |
OMIM:612437 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Seizure, Type II diabetes mellitus, Hand tremor, Hyperinsulinemic hypog... |
ORPHA:79299 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Generalized clonic seizure, EEG with generalized epileptiform discharges, Seizure, F... |
ORPHA:98818 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:607681 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-cloni... |
ORPHA:79137 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... |
OMIM:615362 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Ge... |
ORPHA:352596 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure with focal onset, EEG with burst suppression, Focal-onset seizure,... |
OMIM:619605 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... |
OMIM:619000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Manganese Poisoning |
|
Aggressive behavior, Akinesia, Hypersexuality, Gait disturbance, Emotional lability, Inappropriat... |
ORPHA:306682 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Maternal diabetes, Type I diabetes mellitus,... |
ORPHA:276580 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia |
ORPHA:2589 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements |
OMIM:618425 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Torticollis, Myoclonus, Ataxia, Babins... |
OMIM:607317 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Chorea, Spasticity, Extrapyramidal dyskinesia, Seizure, EEG abnormality, Hemiparesis, Apraxia, My... |
ORPHA:71277 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
Developmental And Epileptic Encephalopathy 40 |
|
Spasticity, Seizure, Hypsarrhythmia, Myoclonus, Choreoathetosis, Spastic tetraparesis |
OMIM:617065 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Seizure, Myoclonus, Focal tonic seizure, Interictal epileptiform activity, Hypertonia, Limb tremor |
OMIM:300699 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Seizure, EEG abnormality, Myoclonus, Ataxia |
OMIM:617829 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Hyperinsulinemic h... |
ORPHA:276575 |
Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... |
OMIM:618396 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, Abnormality of extrapyramidal motor fun... |
ORPHA:79262 |
Persistent Idiopathic Facial Pain |
|
Somatic sensory dysfunction, Paresthesia, Impaired pain sensation, Depression, Anxiety |
ORPHA:398147 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Limb ataxia, Upper motor neuron ... |
ORPHA:95434 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Poor fine motor coordination, Febrile seizure (within the age range of 3 months to 6 years), Gene... |
ORPHA:36387 |
Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
OMIM:601764 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Increased body weight, Hyperinsulinemi... |
ORPHA:276608 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, EEG abnormality, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Salt And Pepper Developmental Regression Syndrome |
|
Multifocal epileptiform discharges, Choreoathetosis, Status epilepticus, Myoclonus, Bilateral ton... |
OMIM:609056 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Frontotemporal dementia, Inertia, Falls, Shuffling gait, Motor deteriorat... |
ORPHA:412066 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Myoclonic seizure, EEG with burst suppression, Myoclonus, Clonic seizure, Tonic seizure, Bilatera... |
OMIM:617290 |
Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Seizure, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia |
OMIM:125370 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par... |
OMIM:605407 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Seizure, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Abnormal nervous system el... |
OMIM:256731 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the face, Myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Percussion m... |
ORPHA:684 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Syncope, Large for gestational age, Hyperinsulinemic hypoglycemia, Diff... |
ORPHA:276556 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
EEG abnormality, Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure,... |
OMIM:617836 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Seizure, Myoclonus, Hypertonia |
OMIM:610090 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure |
OMIM:611630 |
Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Epileptic spasm, Spastic tetraplegia, EEG with polyspike wave complexes, EEG w... |
OMIM:619913 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:614499 |
Lissencephaly 10 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
OMIM:618873 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Intention tremor |
OMIM:617863 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Erratic myoclonus, Seizure, Spastic tetraplegia, EEG with burst suppression, Myoclonus, Ataxia, E... |
OMIM:619971 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Tremor |
OMIM:314250 |
Hypoglycemia, Leucine-Induced |
|
Spasticity, Seizure, Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, EEG with generalized epileptiform discharges, Hyperinsulinemic hypogly... |
ORPHA:35878 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Seizure, Generalized myoclonic seizure, Myoclonus, Ataxia |
OMIM:545000 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Spasticity, Hypsarrhythmia, Generalized myoclonic-atonic seizure, Status epilepticus, Ataxia, Bil... |
OMIM:619701 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Clumsiness, Myoclonus, Genera... |
ORPHA:2590 |
Polymyoclonus, Infantile |
|
Myoclonus, Ataxia |
OMIM:263550 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Combined Saposin Deficiency |
|
Generalized clonic seizure, Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations |
OMIM:611721 |
Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Spinal myoclonus, Torticollis, Myoclonus |
ORPHA:36899 |
Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Spasticity, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptif... |
OMIM:617711 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Status epilepticus without prominent motor symptoms, Bilateral tonic-clonic seizure, Seizure prec... |
ORPHA:363549 |
Episodic Ataxia, Type 9 |
|
Seizure, Status epilepticus, Episodic ataxia, Clonic seizure, Tonic seizure, Bilateral tonic-clon... |
OMIM:618924 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spast... |
OMIM:614322 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia, Hepatomegaly, Progressive cerebellar ataxia |
ORPHA:67046 |
Developmental And Epileptic Encephalopathy 99 |
|
Focal-onset seizure, Eyelid myoclonus, Multifocal epileptiform discharges, Status epilepticus, Fo... |
OMIM:619606 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Unilateral Focal Polymicrogyria |
|
Poor fine motor coordination, EEG with central focal spikes, Bilateral tonic-clonic seizure with ... |
ORPHA:268947 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Increased resting energy expenditure, Short stature, Polyphagia, A... |
ORPHA:369873 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Dementia, Dysmetria, Depression, Anxiety, Progressive cerebellar ataxia |
OMIM:604326 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myoclonic seizure, Gait ataxia, Spasticity, EEG abnormality, Apraxia, Bilateral tonic-clonic seiz... |
OMIM:617810 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
EEG with spike-wave complexes (>3.5 Hz), Seizure, Paroxysmal dyskinesia, Generalized non-motor (a... |
OMIM:609446 |
Perry Syndrome |
|
Inappropriate behavior, Frontotemporal dementia, Suicidal ideation, Akinesia, Apathy, Short stepp... |
OMIM:168605 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Seizure, Exercise-induced muscle fatigue, Truncal ataxia, Hyperkinetic movements |
ORPHA:369847 |
Spinocerebellar Ataxia 21 |
|
Gait ataxia, Aggressive behavior, Cognitive impairment, Akinesia, Apathy, Limb ataxia, Ataxia, Me... |
OMIM:607454 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Myoclonic Epilepsy, Familial Infantile |
|
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... |
OMIM:605021 |
Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism, Ankle clonus, Limb hypertonia, EEG with burst suppression, Hypsarrhythmia, Focal-... |
OMIM:301058 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, Hypothyroidism, Spasticity, Seizure, EEG abnormality, Status epilepticus, Bilateral tonic... |
OMIM:613970 |
Isolated Focal Cortical Dysplasia |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... |
ORPHA:65683 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic hemiplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Episodic quadriplegia |
OMIM:104290 |
Developmental And Epileptic Encephalopathy 23 |
|
Hypsarrhythmia, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal i... |
OMIM:615859 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Severe short stature, Hypoglycemia, Intrauterine growth retardation |
OMIM:223500 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Interictal epileptiform activity, Bilateral toni... |
OMIM:619157 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Sudden death, Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Ataxia |
OMIM:617709 |
Polymicrogyria, Bilateral Temporooccipital |
|
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... |
OMIM:612691 |
Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Short stature, Type II diabetes mellitus, Insulin resistance, F... |
ORPHA:181393 |
Pontocerebellar Hypoplasia, Type 1E |
|
EEG with burst suppression, Myoclonus |
OMIM:619303 |
Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Abnormal pyramidal sig... |
OMIM:617350 |
Developmental And Epileptic Encephalopathy 63 |
|
Myoclonic seizure, Generalized-onset seizure, Generalized tonic seizure, Seizure, EEG with genera... |
OMIM:617976 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Paraparesis, My... |
OMIM:612736 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:616172 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Truncal ataxia, Generalized m... |
OMIM:611726 |
Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, Paraparesis,... |
ORPHA:726 |
Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Tremor, Atonic... |
OMIM:616421 |
Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Gait ataxia, Spasticity, Typical absence seizure, Myoclonus, Focal hemiclonic ... |
OMIM:620145 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Seizure, Myoclonus, Choreoathetosis, Generalized myoclonic seizure, Ataxia, Bilateral tonic-cloni... |
OMIM:301020 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Aggressive behavior, Akinesia, Anxiety, Dementia, Mental deterioration, Bradykinesia |
OMIM:300894 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Seizure, Myoclonus, Choreoathetosis, Tonic seizure, Bilateral tonic-clonic sei... |
OMIM:618497 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure, Lower limb spasticity |
OMIM:619639 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, Spasticity, EEG with generalized slow activity grade 4, Gen... |
ORPHA:79263 |
Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Myoclonic seizure, Chorea, Spasticity, Seizure, EEG abnormality, Myoclonus, Focal impaired awaren... |
OMIM:614254 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609253 |
Kohlschutter-Tonz Syndrome |
|
Myoclonic seizure, Spasticity, Seizure, Focal-onset seizure, Hypsarrhythmia, Ataxia, Bilateral to... |
OMIM:226750 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Abnormal pyramidal sign, Seizure, Focal-onset se... |
OMIM:616645 |
Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Seizure, Abnormality of extrapyramidal motor function, Generalized myoclonic seizure, Ata... |
ORPHA:382 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Chorea, Spasticity, Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, Focal imp... |
OMIM:617493 |
Peho-Like Syndrome |
|
Hypsarrhythmia, Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus |
OMIM:617507 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Tremor, Tetraparesis |
OMIM:615924 |
Familial Infantile Myoclonic Epilepsy |
|
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Interictal EEG abnormali... |
ORPHA:352582 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
ORPHA:289266 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, EEG abnormality, Dysdiadochokinesis, Spastic dysarthria, Oculomotor apraxia, Myoclonu... |
ORPHA:313772 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Spasticity, Seizure, EEG abnormality, Myoclonus, Ataxia |
OMIM:256730 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus |
OMIM:159900 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:616685 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Anxiety, Apathy, Depression, Mental deterioration, Memory impairment, Bradykinesia |
ORPHA:240085 |
Phosphoserine Aminotransferase Deficiency |
|
Myoclonus, Seizure, Hypertonia |
OMIM:610992 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Chorea, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Frequent falls, Clonus... |
OMIM:500003 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Dementia, Depression, Anxiety |
OMIM:605909 |
Dystonia 15, Myoclonic |
|
Myoclonus |
OMIM:607488 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Seizure, EEG abnormality, Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral to... |
OMIM:271980 |
Developmental And Epileptic Encephalopathy 1 |
|
Erratic myoclonus, Abnormal pyramidal sign, Focal motor seizure, EEG with burst suppression, Hyps... |
OMIM:308350 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Spasticity, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired aware... |
ORPHA:208441 |
Dystonia 23 |
|
Torticollis, Head tremor, Myoclonus |
OMIM:614860 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:613863 |
Myotonia Congenita, Autosomal Dominant |
|
Myotonia, Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... |
OMIM:160800 |
Developmental And Epileptic Encephalopathy 16 |
|
Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus |
OMIM:615338 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Spastic diplegia, Myoclonus, Ataxia, Babinski sign, Bilateral tonic-clonic seizure |
OMIM:619065 |
Developmental And Epileptic Encephalopathy 49 |
|
Spasticity, Seizure, EEG abnormality, Myoclonus |
OMIM:617281 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Seizure, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-... |
ORPHA:330050 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Failure to thrive in infancy, Pos... |
OMIM:232700 |
Rasmussen Subacute Encephalitis |
|
Bilateral tonic-clonic seizure with focal onset, Epilepsia partialis continua, Epileptic spasm, G... |
ORPHA:1929 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity, Bilateral tonic-clonic seizure with ... |
OMIM:619028 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Hyperkinetic movements |
OMIM:616921 |
Developmental And Epileptic Encephalopathy 4 |
|
Generalized tonic seizure, Spastic tetraplegia, EEG with burst suppression, Hypsarrhythmia, Gener... |
OMIM:612164 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Seizure, Myoclonus, Choreoathetosis, Tremor, Hypertonia |
OMIM:261630 |
Dystonia 12 |
|
Emotional lability, Depression, Anxiety, Unsteady gait, Bradykinesia |
OMIM:128235 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Seizure, EEG abnormality, Apraxia, Myoclonus, Babinski sign |
OMIM:618193 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Ataxia, Dysmetria, Depression, Anxiety, Mental deterioration, Irritability |
OMIM:618093 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria |
ORPHA:363710 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... |
OMIM:620115 |
Developmental And Epileptic Encephalopathy 41 |
|
Myoclonic seizure, Spasticity, Generalized tonic seizure, EEG abnormality, Hypsarrhythmia, Focal ... |
OMIM:617105 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:101039 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604233 |
Pontocerebellar Hypoplasia, Type 14 |
|
Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Hype... |
OMIM:619301 |
Hyperekplexia 4 |
|
Hypsarrhythmia, Myoclonus, Seizure, Hypertonia |
OMIM:618011 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Generalized-onset seizure, Seizure, EEG abnormality, Hemiparesis, Spastic tetraparesis, Bilateral... |
OMIM:604317 |
Lissencephaly 3 |
|
Generalized tonic seizure, Seizure, Spastic tetraplegia, Ataxia, Bilateral tonic-clonic seizure |
OMIM:611603 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
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Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb hypertonia, Fr... |
ORPHA:254343 |
Dystonia 6, Torsion |
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Torticollis, Myoclonus |
OMIM:602629 |
Type 2 Diabetes Mellitus |
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Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s... |
OMIM:610539 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
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Spasticity, Seizure, Parkinsonism, Rigidity, Apraxia, Babinski sign, Slurred speech, Bilateral to... |
OMIM:300423 |
Epilepsy, Familial Temporal Lobe, 2 |
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Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... |
OMIM:608096 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
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Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... |
OMIM:613060 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
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Chorea, Seizure, EEG with focal spikes, Upper limb spasticity, Myoclonus, Focal tonic seizure, Bi... |
ORPHA:485350 |
Mehmo Syndrome |
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Gait ataxia, Decreased response to growth hormone stimulation test, Birth length less than 3rd pe... |
OMIM:300148 |
Pontocerebellar Hypoplasia Type 4 |
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Myoclonus, Seizure, Hypertonia |
ORPHA:166063 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
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Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Homozygous 11P15-P14 Deletion Syndrome |
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Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Insulinoma |
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Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cel... |
ORPHA:97279 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Gait ataxia, Hyperinsulinemia, Abnormal pyramidal sign, Spasticity, Seizure, Myoclonus, Insulin r... |
ORPHA:363400 |
Ceroid Lipofuscinosis, Neuronal, 3 |
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Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus, Bilateral tonic-c... |
OMIM:204200 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
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Hypoglycemia |
ORPHA:35701 |
Bilateral Generalized Polymicrogyria |
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Focal emotional seizure with laughing, Spasticity, Generalized-onset seizure, Generalized tonic s... |
ORPHA:208447 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Spinocerebellar Ataxia Type 14 |
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Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia |
ORPHA:98763 |
Pontocerebellar Hypoplasia, Type 15 |
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Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Hype... |
OMIM:619302 |
Developmental And Epileptic Encephalopathy 47 |
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EEG abnormality, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Limb at... |
OMIM:617166 |
Congenital Disorder Of Glycosylation, Type Iaa |
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Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus, Appendicular spasticity |
OMIM:617082 |
Obesity |
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Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
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Myoclonus, Tremor |
OMIM:619651 |
Spinocerebellar Ataxia Type 21 |
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Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment, Akinesia |
ORPHA:98773 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
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Gait ataxia, Limb myoclonus, Abnormal nerve conduction velocity, Postural tremor, Torticollis, Li... |
OMIM:619862 |
Corticobasal Syndrome |
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Somatic sensory dysfunction, Akinesia, Gait disturbance, Dementia, Memory impairment, Bradykinesia |
ORPHA:454887 |
Coenzyme Q10 Deficiency, Primary, 4 |
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Epilepsia partialis continua, Abnormal pyramidal sign, Generalized tonic seizure, Seizure, Myoclo... |
OMIM:612016 |
Brody Disease |
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Myotonia, Percussion myotonia, Fasciculations |
OMIM:601003 |
Epilepsy, Familial Focal, With Variable Foci 4 |
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Focal-onset seizure, Clonic seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Foca... |
OMIM:617935 |
Pyridoxine-Dependent Epilepsy |
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EEG with generalized epileptiform discharges, EEG with burst suppression, Hypsarrhythmia, Multifo... |
ORPHA:3006 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Camptodactyly of finger, Abnormality of peripheral nerve conduction, Short stature, Long eyelashe... |
ORPHA:48431 |
Autosomal Dominant Spastic Paraplegia Type 6 |
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Postural tremor, Babinski sign, Spastic paraplegia, Bilateral tonic-clonic seizure, Lower limb sp... |
ORPHA:100988 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
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Abnormal pyramidal sign, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Bilateral tonic-cl... |
ORPHA:53583 |
Post-Traumatic Pituitary Deficiency |
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Hypotension, Abnormality of secondary sexual hair, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
Congenital Disorder Of Glycosylation, Type In |
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Spasticity, Seizure, Ataxia, Myoclonus |
OMIM:612015 |
Xp21 Deletion Syndrome |
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Spasticity, Seizure, Adrenal insufficiency, Primary adrenal insufficiency, Increased muscle fatig... |
ORPHA:261476 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
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Myoclonic seizure, Spasticity, Seizure, Spastic tetraplegia, Focal-onset seizure, Spastic hemipar... |
OMIM:619616 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... |
OMIM:617924 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Myoclonic seizure, Cortical myoclonus, EEG with generalized slow activity grade 4, Spasticity, EE... |
ORPHA:168491 |
Dimethylglycine Dehydrogenase Deficiency |
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Increased muscle fatiguability |
ORPHA:243343 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
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Chorea, Convulsive status epilepticus, Focal-onset seizure, EEG abnormality |
OMIM:618760 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
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Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
Intellectual Developmental Disorder, X-Linked 1 |
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Bilateral tonic-clonic seizure, Atonic seizure, Seizure |
OMIM:309530 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c |
OMIM:610582 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Gait ataxia, Rigidity, Generalized myoclonic seizure, Tonic seizure, Dysmetria, Tremor, Bilateral... |
OMIM:618090 |
Spinocerebellar Ataxia 19 |
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Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Progress... |
OMIM:607346 |
Spastic Ataxia 5, Autosomal Recessive |
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Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Generalized myoclo... |
OMIM:614487 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... |
ORPHA:293964 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
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Gait ataxia, Bilateral tonic-clonic seizure, Hand tremor |
OMIM:617862 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
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Chorea, Seizure, Rigidity, Hypsarrhythmia, Abnormality of extrapyramidal motor function, Choreoat... |
ORPHA:13 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Hepatic fibrosis, Cirrhosis, Postexertional symptom exacerbation, Short stature, Hepatocellular c... |
ORPHA:369 |
Pyridoxal Phosphate-Responsive Seizures |
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Seizure, EEG with burst suppression, Myoclonus, Status epilepticus, Hypoglycemia, Hypertonia |
ORPHA:79096 |
Glucocorticoid Deficiency 3 |
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Recurrent hypoglycemia |
OMIM:609197 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Seizures, Benign Familial Neonatal, 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:121200 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypoglycemia, Short stature |
ORPHA:366 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
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Seizure, Rigidity, Myoclonus, Hypoglycemia, Athetosis |
OMIM:618241 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
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Generalized-onset seizure, Generalized myoclonic seizure, Myoclonus, Tremor, Frequent falls, Tong... |
OMIM:159950 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
Glucocorticoid Resistance, Generalized |
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Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... |
OMIM:615962 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
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Gait imbalance, Falls, Akinesia, Short stepped shuffling gait, Freezing of gait, Dementia, Loss o... |
ORPHA:240094 |
Fructose And Galactose Intolerance |
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Hypoglycemia |
OMIM:229500 |
Thyrocerebrorenal Syndrome |
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Seizure, Myoclonus, Slurred speech, Euthyroid goiter, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hyperinsulinemia, Precocious puberty, Short stature, Diabetic ketoacidosis, Small for gestational... |
OMIM:262190 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Bilateral tonic-clonic seizure with focal onset, EEG with occipital epileptiform discharges, Seiz... |
OMIM:619428 |
Febrile Seizures, Familial, 11 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
New-Onset Refractory Status Epilepticus |
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EEG with frontal epileptiform discharges, Myoclonic seizure, Bilateral tonic-clonic seizure with ... |
ORPHA:363558 |
Epilepsy, Familial Temporal Lobe, 6 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:615697 |
D-Glyceric Aciduria |
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Spasticity, Seizure, Spastic tetraplegia, Hypsarrhythmia, Myoclonus, Focal clonic seizure, Status... |
OMIM:220120 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:606176 |
Dimethylglycine Dehydrogenase Deficiency |
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Increased muscle fatiguability |
OMIM:605850 |
Pontocerebellar Hypoplasia, Type 4 |
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Spasticity, Seizure, Myoclonus, Hypertonia |
OMIM:225753 |
Spastic Paraplegia 79B, Autosomal Recessive |
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Hoffmann sign, Ankle clonus, Postural tremor, Myotonia, Ataxia, Babinski sign, Spastic paraplegia... |
OMIM:615491 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Myoclonic seizure, Chorea, Cerebral palsy, Myoclonus, Neonatal hypoglycemia, Bilateral tonic-clon... |
OMIM:617600 |
Autosomal Recessive Spastic Paraplegia Type 48 |
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Progressive spastic paraplegia, Spastic gait, Parkinsonism, Myoclonus, Ataxia, Lower limb spasticity |
ORPHA:306511 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
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Hyperhidrosis, Decreased body weight, Short stature, Small for gestational age, Neonatal hypoglyc... |
ORPHA:231140 |
Adenosine Monophosphate Deaminase Deficiency |
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Exercise-induced muscle fatigue |
ORPHA:45 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
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Gait ataxia, Ataxia, Increased muscle fatiguability |
OMIM:613077 |
Myotonia Congenita, Autosomal Recessive |
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Myotonia, Myotonia with warm-up phenomenon, Percussion myotonia, EMG: myotonic runs |
OMIM:255700 |
Kufor-Rakeb Syndrome |
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Aggressive behavior, Akinesia, Gait disturbance, Dementia, Ataxia, Distal sensory impairment, Bra... |
OMIM:606693 |
Hsd10 Disease |
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Seizure, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Spastic paraparesis, Tremor |
ORPHA:391417 |
Erythrocyte Lactate Transporter Defect |
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Exercise-induced muscle fatigue |
OMIM:245340 |
Posterior Cortical Atrophy |
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Memory impairment, Inertia, Ataxia, Anxiety |
ORPHA:54247 |
Thyrotoxic Periodic Paralysis |
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Abnormality of peripheral nerve conduction, Hyperthyroidism, Thyrotoxicosis with toxic single thy... |
ORPHA:79102 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
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Gait ataxia, Spasticity, Seizure, EEG abnormality, Oculomotor apraxia, Status epilepticus, Dysmet... |
ORPHA:529665 |
Childhood Disintegrative Disorder |
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Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterioration, Dem... |
ORPHA:168782 |
Spinocerebellar Ataxia 17 |
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Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Dy... |
OMIM:607136 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
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EEG abnormality, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Abnormal pe... |
ORPHA:457205 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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