Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Epilepsy, Familial Temporal Lobe, 1 |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Osteopenia, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epil... |
OMIM:610539 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
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Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
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Seizure, Hypoglycemia |
ORPHA:35701 |
Glycogen Storage Disease Vi |
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Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Bilateral tonic-clonic seizure, Hypoglycemia, Large for gestational age, Obesity, Truncal obesity... |
OMIM:240900 |
Congenital Glucokinase-Related Hyperinsulinism |
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Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Seizure, Recurrent hypogl... |
ORPHA:79299 |
Epilepsy, Familial Temporal Lobe, 5 |
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Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Developmental And Epileptic Encephalopathy 9 |
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Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Reduced C-peptid... |
OMIM:618856 |
Developmental And Epileptic Encephalopathy 15 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... |
OMIM:615006 |
Chylomicron Retention Disease |
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Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Developmental And Epileptic Encephalopathy 53 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentrati... |
OMIM:617389 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Seizure, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
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Bilateral tonic-clonic seizure, Clonic seizure, Elevated circulating alpha-aminoadipic semialdehy... |
OMIM:266100 |
Developmental And Epileptic Encephalopathy 104 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... |
OMIM:619970 |
Pancreatic Lipase Deficiency |
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Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
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Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Fructose And Galactose Intolerance |
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Seizure, Hypoglycemia |
OMIM:229500 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
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Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Dravet Syndrome |
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Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Benign Familial Infantile Epilepsy |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Small for gestat... |
OMIM:245570 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Developmental And Epileptic Encephalopathy 94 |
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Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Developmental And Epileptic Encephalopathy 26 |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
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Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Developmental And Epileptic Encephalopathy 74 |
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Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Seizures, Benign Familial Neonatal, 2 |
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Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Generalized-onset seizure, Reactive hypoglycemia, Fasting hyperinsulinemia, Generalized non-motor... |
ORPHA:35878 |
Seizures, Benign Familial Infantile, 2 |
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Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Developmental And Epileptic Encephalopathy 54 |
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Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Continuous Spikes And Waves During Sleep |
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Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... |
ORPHA:725 |
Developmental And Epileptic Encephalopathy 31A |
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Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Developmental And Epileptic Encephalopathy 11 |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Developmental And Epileptic Encephalopathy 12 |
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Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Seizures, Benign Familial Infantile, 5 |
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Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Epilepsy, Myoclonic Juvenile |
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Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Epilepsy, Familial Adult Myoclonic, 5 |
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Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... |
OMIM:615400 |
Autosomal Dominant Epilepsy With Auditory Features |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Febrile Seizures, Familial, 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 5 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Hyperammonemia, Hypercholesterolemia, Incr... |
OMIM:620211 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Squalene Synthase Deficiency |
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Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... |
OMIM:618156 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
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Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Peroxisome Biogenesis Disorder 3B |
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Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Female Restricted Epilepsy With Intellectual Disability |
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Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Developmental And Epileptic Encephalopathy 24 |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Hypoglycemia, Leucine-Induced |
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Seizure, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Epilepsy, Progressive Myoclonic, 6 |
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Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Generalized n... |
OMIM:614018 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Developmental And Epileptic Encephalopathy 13 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
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Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... |
OMIM:607682 |
Perioral Myoclonia With Absences |
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Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Insu... |
OMIM:612526 |
Potocki-Lupski Syndrome |
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Seizure, Failure to thrive, Small for gestational age, Hypocholesterolemia |
OMIM:610883 |
Lennox-Gastaut Syndrome |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... |
ORPHA:2382 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:617831 |
Epilepsy, Familial Temporal Lobe, 2 |
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Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Seizure, Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Epilepsy, Idiopathic Generalized |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia, Failure to thrive |
OMIM:607765 |
Juvenile Absence Epilepsy |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Growth Hormone Deficiency, Isolated Partial |
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Postnatal growth retardation, Short stature |
OMIM:615925 |
Lissencephaly 10 |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
Analbuminemia |
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Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
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Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
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 |
Unilateral Hemispheric Polymicrogyria |
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Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... |
ORPHA:101071 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Ketotic hypoglycemia, Hyperlipidemia, Seizure, Glycosuria, Postprandial hyperglycemia, Failure to... |
ORPHA:2089 |
Myoclonic Epilepsy, Familial Infantile |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... |
OMIM:605021 |
Developmental And Epileptic Encephalopathy 42 |
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Bilateral tonic-clonic seizure, Tonic seizure, Flexion contracture, Focal tonic seizure, Myocloni... |
OMIM:617106 |
Seizures, Benign Familial Infantile, 3 |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
Epilepsy, Familial Focal, With Variable Foci 4 |
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Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
Seizures, Benign Familial Neonatal, 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Intellectual Developmental Disorder, X-Linked 100 |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Pyridoxal Phosphate-Responsive Seizures |
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Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... |
ORPHA:79096 |
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 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
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Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly... |
ORPHA:6 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
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Small for gestational age, Diabetes mellitus, Bilateral tonic-clonic seizure, Elevated hemoglobin... |
OMIM:619278 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Cerebral Creatine Deficiency Syndrome 2 |
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Bilateral tonic-clonic seizure, Seizure, Myoclonus, Decreased serum creatinine, Elevated circulat... |
OMIM:612736 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Galactokinase Deficiency |
|
Small for gestational age, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasm... |
ORPHA:79237 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Seizure, Hypocholesterolemia |
OMIM:618810 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Congenital Disorder Of Glycosylation, Type Ia |
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Osteopenia, Generalized-onset seizure, Abnormal subcutaneous fat tissue distribution, Flexion con... |
OMIM:212065 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu... |
OMIM:615160 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Alg12-Cdg |
|
Hyponatremia, Abnormal bone ossification, Seizure, Recurrent hypoglycemia, Hypoalbuminemia, Abnor... |
ORPHA:79324 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Seizure, Failure ... |
OMIM:614736 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... |
OMIM:617600 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Seizure, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol... |
ORPHA:14 |
Infantile Liver Failure Syndrome 2 |
|
Seizure, Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Glycosuria, Hy... |
OMIM:616026 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Seizure, Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Dubowitz Syndrome |
|
Inguinal hernia, Hypocholesterolemia |
OMIM:223370 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
ORPHA:501 |
Smith-Lemli-Opitz Syndrome |
|
Epiphyseal stippling, Seizure, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concent... |
OMIM:270400 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Tatton-Brown-Rahman Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Umbilical hernia, Sagitta... |
OMIM:615879 |
Tatton-Brown-Rahman Syndrome |
|
Seizure, Umbilical hernia, Obesity |
ORPHA:404443 |
Heyn-Sproul-Jackson Syndrome |
|
Intrauterine growth retardation, Severe short stature |
OMIM:618724 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:276621 |
Leukemia, Acute Myeloid |
|
|
OMIM:601626 |