Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
Intellectual Developmental Disorder, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Kifafa Seizure Disorder |
|
Seizure |
OMIM:245180 |
Intellectual Developmental Disorder, Autosomal Dominant 3 |
|
Seizure |
OMIM:612580 |
Glycosylphosphatidylinositol Biosynthesis Defect 16 |
|
Seizure |
OMIM:617816 |
Intellectual Developmental Disorder, Autosomal Recessive 10 |
|
Seizure |
OMIM:611096 |
Intellectual Developmental Disorder, X-Linked 96 |
|
Seizure |
OMIM:300802 |
Intellectual Developmental Disorder, X-Linked 88 |
|
Seizure |
OMIM:300852 |
15q13.3 microdeletion syndrome |
|
Seizure |
DECIPHER:74 |
Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
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 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
OMIM:618482 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Epilepsy, Familial Temporal Lobe, 4 |
|
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features |
OMIM:611631 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation |
|
Photosensitive tonic-clonic seizure |
OMIM:226800 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure |
OMIM:618596 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Juvenile Myoclonic Epilepsy |
|
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:307 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... |
OMIM:615744 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age, Seizure, Bruxism |
ORPHA:356996 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... |
OMIM:618883 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:617831 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Developmental And Epileptic Encephalopathy 57 |
|
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure |
OMIM:617771 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... |
OMIM:607682 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:203330 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... |
OMIM:615006 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... |
OMIM:619970 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Continuous Spikes And Waves During Sleep |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... |
ORPHA:725 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Myoclonic-Atonic Epilepsy |
|
Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure,... |
OMIM:616421 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure |
OMIM:616409 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... |
OMIM:615400 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... |
OMIM:617113 |
Lissencephaly 10 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... |
ORPHA:2382 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus |
OMIM:254800 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:612691 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... |
OMIM:618587 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... |
OMIM:614018 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... |
ORPHA:86909 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619157 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... |
OMIM:606762 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:266100 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Focal-onset seizure, Generalized-onset seizure, Focal sensory seizure, Infantile spasms |
OMIM:602066 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... |
ORPHA:139431 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... |
OMIM:613855 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... |
ORPHA:36387 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:245570 |
Hydroxylysinuria |
|
Generalized myoclonic seizure |
OMIM:236900 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:619000 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:601068 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Landau-Kleffner Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... |
ORPHA:98818 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
L-Ferritin Deficiency |
|
Generalized-onset seizure |
OMIM:615604 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:616187 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... |
OMIM:617389 |
Developmental And Epileptic Encephalopathy 56 |
|
Generalized non-motor (absence) seizure, Focal motor seizure, Myoclonic seizure, Seizure, Status ... |
OMIM:617665 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Carnosinemia |
|
Generalized myoclonic seizure |
OMIM:212200 |
Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:610003 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... |
OMIM:611726 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... |
ORPHA:101071 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:162350 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... |
OMIM:605021 |
Epilepsy, Nocturnal Frontal Lobe, 1 |
|
Focal-onset seizure, Seizure |
OMIM:600513 |
Benign Occipital Epilepsy |
|
Focal impaired awareness seizure |
ORPHA:25968 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... |
OMIM:619317 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure |
OMIM:616341 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... |
OMIM:616645 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus |
OMIM:608105 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Myoclonus |
ORPHA:86814 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa... |
OMIM:617904 |
Developmental And Epileptic Encephalopathy 98 |
|
Death in infancy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:619605 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... |
OMIM:616540 |
Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Generalized non-motor (absence) seizure, Focal motor seizure |
OMIM:615553 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... |
OMIM:617711 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus |
OMIM:618924 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Generalized myoclonic seizure, Seizure, Myoclonus |
OMIM:208700 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure |
OMIM:619031 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... |
OMIM:146200 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:613608 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... |
ORPHA:2239 |
Intellectual Developmental Disorder, Autosomal Dominant 46 |
|
Seizure, Focal impaired awareness seizure, Infantile spasms, Tonic seizure |
OMIM:617601 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Typical abs... |
ORPHA:2590 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure |
OMIM:617709 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:603233 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... |
ORPHA:98820 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617171 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Generalized myoclonic seizure |
ORPHA:79156 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure |
OMIM:619639 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:309530 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... |
OMIM:616139 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepti... |
OMIM:271980 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... |
OMIM:301008 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:617836 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... |
OMIM:204300 |
Bilateral Frontoparietal Polymicrogyria |
|
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali... |
ORPHA:101070 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Developmental And Epileptic Encephalopathy 60 |
|
Epileptic spasm, Tonic seizure, Myoclonic seizure, Seizure, Focal impaired awareness seizure |
OMIM:617929 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Atonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myocloni... |
OMIM:617810 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Seizure, Generalized non-motor (absence) seizure |
ORPHA:98811 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:208447 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Focal motor s... |
ORPHA:599373 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... |
OMIM:619854 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... |
ORPHA:94090 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
ORPHA:208441 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... |
OMIM:619913 |
Dravet Syndrome |
|
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... |
ORPHA:33069 |
Encephalopathy Due To Prosaposin Deficiency |
|
Death in infancy, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:163721 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608636 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure |
OMIM:104290 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, Focal impa... |
OMIM:617106 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S... |
ORPHA:330050 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... |
ORPHA:276580 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity |
ORPHA:436151 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul... |
ORPHA:94086 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... |
OMIM:617976 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... |
ORPHA:276575 |
Autism, Susceptibility To, X-Linked 6 |
|
Seizure, Obesity |
OMIM:300872 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Guanidinoacetate Methyltransferase Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... |
ORPHA:382 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Seizure, Obesity |
ORPHA:436141 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Pyridoxine-Dependent Epilepsy |
|
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Seizure, Status epilepticus, ... |
ORPHA:3006 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... |
ORPHA:280356 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Generalized non-motor (absence) seizure |
OMIM:618242 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:619191 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
Bardet-Biedl Syndrome 10 |
|
Seizure, Obesity |
OMIM:615987 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Status ep... |
OMIM:619701 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... |
ORPHA:485350 |
Lissencephaly 3 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure |
OMIM:611603 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure |
OMIM:616521 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Seizure, Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Pontocerebellar Hypoplasia, Type 14 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure |
OMIM:619301 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Seizure, Hyperactivity, Small for gestational age |
ORPHA:85288 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, Myoc... |
ORPHA:411986 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615362 |
Benign Familial Neonatal-Infantile Seizures |
|
Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure |
ORPHA:140927 |
Hartnup Disorder |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Generalized tonic seizure |
OMIM:234500 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:301020 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Progressive Myoclonic Epilepsy Type 3 |
|
Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb... |
ORPHA:263516 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... |
OMIM:615859 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:300454 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Generalized-onset seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febrile s... |
OMIM:617188 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mannerisms |
OMIM:239500 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... |
OMIM:618170 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... |
OMIM:617600 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:616230 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:618856 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Pontocerebellar Hypoplasia, Type 15 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure |
OMIM:619302 |
Microduplication Xp11.22P11.23 Syndrome |
|
Seizure, Obesity |
ORPHA:217377 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset |
OMIM:618770 |
11P15.4 Microduplication Syndrome |
|
Seizure, Obesity, Aggressive behavior |
ORPHA:300305 |
Hernández-Aguirre Negrete Syndrome |
|
Seizure, Obesity |
ORPHA:2139 |
Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300558 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614322 |
Benign Familial Neonatal Epilepsy |
|
Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure, Focal ... |
ORPHA:1949 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... |
OMIM:618497 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617082 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:620317 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age |
OMIM:240900 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:618090 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Bilateral tonic-clonic seizure |
OMIM:618425 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus |
OMIM:613970 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Seizure, Truncal obesity |
OMIM:300471 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:609056 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:620200 |
Myoclonic-Astatic Epilepsy |
|
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, F... |
ORPHA:1942 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Developmental And Epileptic Encephalopathy 79 |
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Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... |
OMIM:618559 |
Developmental And Epileptic Encephalopathy 37 |
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Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:616981 |
Chylomicron Retention Disease |
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Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus |
OMIM:605899 |
Childhood Absence Epilepsy |
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Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Kohlschutter-Tonz Syndrome |
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Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:226750 |
Hyperparathyroidism 4 |
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Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Pseudopseudohypoparathyroidism |
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Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... |
ORPHA:79445 |
Microcephaly, Seizures, And Developmental Delay |
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Seizure, Hyperactivity |
OMIM:613402 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Familial Isolated Hypoparathyroidism |
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Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... |
ORPHA:2238 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:250972 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
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Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizures, Decreased circulating fr... |
ORPHA:276556 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:619428 |
Hyperlysinemia, Type I |
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Seizure, Hyperactivity |
OMIM:238700 |
Pseudohypoparathyroidism, Type Ic |
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Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... |
OMIM:612462 |
Obesity And Hypopigmentation |
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Hyperinsulinemia |
OMIM:620195 |
Developmental And Epileptic Encephalopathy 106 |
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Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure |
OMIM:620028 |
Mody |
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Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Lafora Disease |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
ORPHA:501 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ... |
ORPHA:289266 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... |
OMIM:301033 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
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Aggressive behavior, Large for gestational age, Seizure, Self-injurious behavior, Agitation |
OMIM:616116 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Bdv Syndrome |
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Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:616834 |
Progressive Familial Intrahepatic Cholestasis |
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Hypocalcemia |
ORPHA:172 |
Morbid Obesity And Spermatogenic Failure |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
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Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus |
OMIM:617290 |
Intellectual Developmental Disorder, X-Linked 91 |
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Seizure, Obesity |
OMIM:300577 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Intellectual Developmental Disorder, X-Linked 111 |
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Hyperactivity, Aggressive behavior, Phonic tics, Seizure, Compulsive behaviors |
OMIM:301107 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
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Bilateral tonic-clonic seizure |
OMIM:617862 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
Mannosidosis, Beta A, Lysosomal |
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Seizure, Hyperactivity, Aggressive behavior |
OMIM:248510 |
Brain Small Vessel Disease 2 |
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Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Intellectual Developmental Disorder, X-Linked 107 |
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Hyperactivity, Aggressive behavior, Obesity, Seizure, Attention deficit hyperactivity disorder |
OMIM:301013 |
Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Ceroid Lipofuscinosis, Neuronal, 3 |
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Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:204200 |
Infantile Convulsions And Choreoathetosis |
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Focal-onset seizure, Seizure, Complex febrile seizure, Focal impaired awareness seizure, Experien... |
ORPHA:31709 |
Liang-Wang Syndrome |
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Status epilepticus, Generalized non-motor (absence) seizure |
OMIM:618729 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... |
OMIM:618012 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Peho-Like Syndrome |
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Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:617507 |
Tubulinopathy-Associated Dysgyria |
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Startle-induced seizure, Generalized non-motor (absence) seizure, Infantile spasms |
ORPHA:467166 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics |
OMIM:619927 |
Cerebral Creatine Deficiency Syndrome 2 |
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Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... |
OMIM:612736 |
Developmental And Epileptic Encephalopathy 90 |
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Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:301058 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Bilateral tonic-clonic seizure, Myoclonus |
OMIM:619065 |
Estrogen Resistance |
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Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Familial Infantile Myoclonic Epilepsy |
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Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Hyperactivity, Obesity, Aggressive behavior |
OMIM:620270 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Intellectual Developmental Disorder, X-Linked 101 |
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Seizure, Hyperactivity |
OMIM:300928 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
Developmental And Epileptic Encephalopathy 8 |
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Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure |
OMIM:300607 |
Nicolaides-Baraitser Syndrome |
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Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure |
ORPHA:3051 |
Hyperlipoproteinemia, Type V |
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Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... |
OMIM:144650 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
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Focal-onset seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:620166 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Bilateral tonic-clonic seizure |
OMIM:618237 |
Short Stature, Dauber-Argente Type |
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Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure |
ORPHA:544254 |
Unilateral Focal Polymicrogyria |
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Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor seizure, Sei... |
ORPHA:268947 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Houge-Janssens Syndrome 3 |
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Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... |
OMIM:618354 |
Coffin-Siris Syndrome 8 |
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Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Failure to thrive |
OMIM:618362 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic seizure... |
ORPHA:168491 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Myocloni... |
OMIM:617105 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Seizure, Typical absence seizure |
ORPHA:576283 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Developmental And Epileptic Encephalopathy 110 |
|
Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure |
OMIM:620149 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:606407 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... |
ORPHA:36913 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu... |
OMIM:618917 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure, Eyelid myoclonus |
OMIM:613839 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:209370 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... |
ORPHA:98795 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Seizure |
OMIM:616418 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizur... |
OMIM:612164 |
Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in ... |
ORPHA:79237 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... |
OMIM:620292 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Bilateral tonic-clonic seizure |
ORPHA:100988 |
Aminoacylase 1 Deficiency |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:609924 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Overweight, Pica, Seizure, Recurrent hand flapping, Tall stature |
OMIM:615032 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Seizure, Hyperactivity, Failure to thrive |
OMIM:274270 |
Alpers-Huttenlocher Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:726 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Seizure, Obesity |
ORPHA:3055 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Periventricular Nodular Heterotopia 7 |
|
Seizure, Generalized non-motor (absence) seizure, Infantile spasms |
OMIM:617201 |
Nephronophthisis 15 |
|
Seizure, Obesity |
OMIM:614845 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure |
OMIM:617493 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:300801 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Morm Syndrome |
|
Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure |
ORPHA:53583 |
Chromosome Xq25 Duplication Syndrome |
|
Seizure, Hyperactivity, Tall stature |
OMIM:300979 |
Harel-Yoon Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:617183 |
Developmental And Epileptic Encephalopathy 61 |
|
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617933 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Pancreatic islet-cell hyperplasi... |
ORPHA:263455 |
14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Obesity, Seizure, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:261229 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Convulsive status epilepticus |
OMIM:618760 |
Hyperprolinemia Type 2 |
|
Early onset absence seizures, Generalized-onset seizure, Seizure, Status epilepticus, Febrile sei... |
ORPHA:79101 |
Severe Canavan Disease |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:314911 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormal circulating leptin concentration, Abnormal cir... |
ORPHA:2298 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Seizure, Truncal obesity, Bruxism, Recurrent hand flapping |
OMIM:613192 |
Lissencephaly Due To Lis1 Mutation |
|
Infantile spasms, Focal motor seizure, Seizure, Focal impaired awareness seizure, Atypical absenc... |
ORPHA:95232 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Generalized-onset seizure |
ORPHA:459074 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia, Hypoglycemia |
OMIM:601005 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Obesity, Seizure, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure |
OMIM:203740 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:488635 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... |
ORPHA:140286 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Infantile Cerebellar-Retinal Degeneration |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614559 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:300423 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Infantile spasms, Tonic seizure, Seizure, Failure to thrive |
OMIM:619239 |
Apnea, Obstructive Sleep |
|
Focal impaired awareness seizure |
OMIM:107650 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Seizure, Febrile seizure (within the age range of 3 months to... |
OMIM:615516 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... |
ORPHA:99879 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Seizure |
ORPHA:3077 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elev... |
ORPHA:94089 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Status epilepticus, Myoclonus |
ORPHA:561854 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Developmental And Epileptic Encephalopathy 47 |
|
Focal-onset seizure, Status epilepticus, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:617166 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin resistance, Hyper... |
ORPHA:528 |
Sarcosinemia |
|
Bilateral tonic-clonic seizure |
ORPHA:3129 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Seizure, Myoclonic absence seizure |
OMIM:616034 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:363400 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:614207 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus |
ORPHA:3085 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... |
ORPHA:97289 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Neonata... |
OMIM:615501 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Failure to thrive, Abnormal repeti... |
OMIM:609425 |
Spastic Ataxia 5, Autosomal Recessive |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614487 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Seizure, Hyperactivity, Myoclonus |
OMIM:615924 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
OMIM:264700 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Hypercalcemia |
ORPHA:2668 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Seizure, Hyperactivity |
OMIM:617169 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:615031 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
New-Onset Refractory Status Epilepticus |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... |
ORPHA:363558 |
Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypocalcemia |
ORPHA:1563 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:618183 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure |
OMIM:600721 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres... |
OMIM:610042 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho... |
OMIM:612089 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos... |
OMIM:617994 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Seizure, Hyperactivity, Failure to thrive, Aggressive behavior |
OMIM:615286 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General... |
ORPHA:79351 |
Mehmo Syndrome |
|
Seizure, Agitation, Obesity |
ORPHA:85282 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Seizure, Obesity |
ORPHA:276630 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:619911 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Seizure, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxys... |
OMIM:618718 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia |
OMIM:239199 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... |
ORPHA:457351 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure |
ORPHA:464282 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:618235 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Tonic seizure |
OMIM:300260 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Seizure, Compulsive behaviors, Attention deficit hyperactivit... |
OMIM:261600 |
Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... |
OMIM:606069 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:313772 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Decreased circulating parathyroid hormone level |
OMIM:143880 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Seizure, Attention deficit hyperactivity disorder, Increased body weight, Impulsivity |
ORPHA:589905 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei... |
ORPHA:395 |
Hyperekplexia-Epilepsy Syndrome |
|
Focal impaired awareness seizure, Generalized tonic seizure |
ORPHA:163985 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... |
OMIM:618325 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:615716 |
Spinocerebellar Ataxia 48 |
|
Bilateral tonic-clonic seizure |
OMIM:618093 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure |
OMIM:615398 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... |
ORPHA:71212 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure |
OMIM:619983 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
Dk1-Cdg |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:91131 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:619877 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-... |
OMIM:616973 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... |
OMIM:131100 |
3P25.3 Microdeletion Syndrome |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:435638 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Parathyr... |
OMIM:145001 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... |
OMIM:300912 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:612337 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Small for gestational age, Failure to thrive in infancy, Seizure, Inappropriate la... |
OMIM:614104 |
Potocki-Lupski Syndrome |
|
Hypothyroidism, Hypocholesterolemia |
OMIM:610883 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
ORPHA:289157 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:529665 |
Den Hoed-De Boer-Voisin Syndrome |
|
Generalized clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Nocturn... |
OMIM:619229 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... |
ORPHA:64744 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:457205 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Juvenile Huntington Disease |
|
Seizure, Hyperactivity, Myoclonus, Weight loss |
ORPHA:248111 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Compulsive behaviors |
OMIM:619467 |
Clark-Baraitser Syndrome |
|
Seizure, Hyperactivity, Obesity, Aggressive behavior |
OMIM:617752 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Celiac Disease, Susceptibility To, 1 |
|
Thyroiditis, Hypocalcemia, Steatorrhea, Type I diabetes mellitus, Delayed puberty |
OMIM:212750 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Seizure, Hyperactivity, Aggressive behavior |
OMIM:612716 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:363686 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Bilateral tonic-clonic seizure |
OMIM:540000 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:607876 |
Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... |
ORPHA:1934 |
Hyperekplexia 3 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure |
OMIM:616083 |
Cln3 Disease |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
ORPHA:228346 |
Mpi-Cdg |
|
Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Hypo... |
ORPHA:411634 |
Sandhoff Disease, Infantile Form |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
ORPHA:309155 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypothyroidism, Hypocalcemia |
OMIM:618440 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoglycemia, Hypocalcemia |
OMIM:607143 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615802 |
X-Linked Intellectual Disability, Shashi Type |
|
Seizure, Obesity |
ORPHA:85286 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Increased body weight, Head-banging, Seizure, Onychotillomania, Abno... |
OMIM:182290 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus |
OMIM:618314 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:617798 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia, Hypoketotic hypoglycemia |
ORPHA:746 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Parathyroid hypoplasia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Dpm1-Cdg |
|
Early onset absence seizures, Seizure, Generalized myoclonic seizure, Atonic seizure, Generalized... |
ORPHA:79322 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Obesity, Seizure, Self-injurious behavior, Skin-picking, Abno... |
OMIM:600430 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure |
ORPHA:96147 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Congenital hypoparathyroidism, Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Infantile spasms |
OMIM:620224 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigable weakness, Febrile seizure (within the age range of 3 months to 6 years), Bilateral toni... |
ORPHA:42 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... |
OMIM:203800 |
Gitelman Syndrome |
|
Maternal diabetes, Hypomagnesemia, Insulin resistance, Hypermagnesemia, Glucose intolerance, Diab... |
ORPHA:358 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos... |
OMIM:103580 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... |
ORPHA:199299 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Abnormality of the endocrine system, Thyroiditis, Abnormal blood ion concentrati... |
ORPHA:37042 |
Sulfite Oxidase Deficiency, Isolated |
|
Bilateral tonic-clonic seizure |
OMIM:272300 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618120 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia, Decreased response to growth hormone stimulation test, Adrenal hypoplasia |
OMIM:614732 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
ORPHA:488613 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures |
OMIM:619725 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... |
ORPHA:79086 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal-onset ... |
ORPHA:163681 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
X-Linked Intellectual Disability, Hedera Type |
|
Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:93952 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Status epilepticus |
ORPHA:564178 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:617360 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Seizure, Hyperactivity, Impulsivity |
OMIM:300143 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Hypocalcemia, Aplasia/Hypoplasia of the thymus |
ORPHA:3426 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Seizure, Hyperactivity, Aggressive behavior, Decreased body weight |
OMIM:300958 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:615538 |
Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... |
OMIM:246200 |
Angelman Syndrome |
|
Infantile spasms, Seizure, Status epilepticus, Myoclonus, Atypical absence seizure, Generalized m... |
ORPHA:72 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:79264 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Nocturnal seizures, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure |
ORPHA:98784 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hype... |
OMIM:248370 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure |
OMIM:271900 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... |
ORPHA:769 |
Lissencephaly Due To Tuba1A Mutation |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:171680 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:457240 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Sei... |
ORPHA:480864 |
Behavioral Variant Of Frontotemporal Dementia |
|
Bilateral tonic-clonic seizure |
ORPHA:275864 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior |
OMIM:614963 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia, Thyroid lymphangiectasia |
OMIM:235255 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:619356 |
Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Tongue thrusting, Obesity, Seizure, Inappropriate laughter, Dysphagia, ... |
ORPHA:411511 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Failure to... |
OMIM:620242 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Seizure, Compulsive behaviors, Abnormal repetitive m... |
OMIM:618430 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal clonic seizure, Myoclonus |
OMIM:220120 |
Distal 16P11.2 Microdeletion Syndrome |
|
Seizure, Obesity, Attention deficit hyperactivity disorder |
ORPHA:261222 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Neonatal death, Seizure, Bilateral tonic-clonic seizure |
OMIM:620300 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:79243 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure |
ORPHA:369929 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Seizure, Obesity |
OMIM:610628 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:268940 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure... |
OMIM:619580 |
Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Hyp... |
ORPHA:699 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:544503 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonus |
ORPHA:254881 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Seizure, Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:618381 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Bilateral tonic-clonic seizure |
ORPHA:199354 |
Addison Disease |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Adrenal cal... |
ORPHA:85138 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Adrenal hypoplas... |
ORPHA:95409 |
Weaver Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:277590 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Seizure, Myoclonus, Inappropr... |
ORPHA:98794 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma |
ORPHA:94080 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... |
OMIM:239200 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder |
OMIM:274300 |
Pelger-Huet Anomaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:169400 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Bilateral tonic-clonic seizure |
ORPHA:79350 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior, Seizure, Status epilepticus, Failure to thrive |
OMIM:615824 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Infantile spasms, Focal tonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Genera... |
ORPHA:404454 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:369837 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
ORPHA:364028 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase ... |
OMIM:613327 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:616672 |
Kinsship Syndrome |
|
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... |
OMIM:619297 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Vipoma |
|
Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormone concentratio... |
ORPHA:97282 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Obesity, Seizure, Overgrowth, Polyphagia |
OMIM:616831 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... |
ORPHA:466943 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bilateral tonic-clonic seizure |
OMIM:616351 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:602481 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Bilateral tonic-clonic seizure |
ORPHA:453510 |
Somatostatinoma |
|
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:97283 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure |
ORPHA:258 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Hypercalcemia |
OMIM:171420 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Tay-Sachs Disease |
|
Seizure, Typical absence seizure, Focal impaired awareness seizure, Myoclonus |
ORPHA:845 |
Developmental And Epileptic Encephalopathy 49 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus |
OMIM:617281 |
Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Recurrent hypoglycemia, Hypoalbuminem... |
ORPHA:79324 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Seizure, Typical absence seizure |
OMIM:618343 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:620070 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:618316 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Bone Marrow Failure Syndrome 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618165 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... |
OMIM:620024 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure |
ORPHA:481152 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
X-Linked Creatine Transporter Deficiency |
|
Seizure, Hyperactivity, Self-mutilation, Cachexia |
ORPHA:52503 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Aggressive behavior, Obesity, Seizure, Attention deficit hyperactivity disorder, Recurrent hand f... |
OMIM:619680 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:600092 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity, Hypoglycemic seizures |
OMIM:609734 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Bilateral tonic-clonic seizure |
ORPHA:369840 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypergonadotropic hypogonadism, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia, Hypothyroidism |
OMIM:212065 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Hypocalcemia |
OMIM:192430 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure |
OMIM:617193 |
Biotinidase Deficiency |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl... |
ORPHA:79241 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... |
ORPHA:14 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Monosomy 13Q34 |
|
Insulin resistance, Hypercalcemia |
ORPHA:96168 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Ritscher-Schinzel Syndrome 4 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:619435 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Abnormal temper tantrums, A... |
ORPHA:449291 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Impulsivity, Aggressive behavior, Overweight, Seizure, Obsessive-compulsive trait, Abnormal tempe... |
ORPHA:500055 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure |
ORPHA:466950 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Tall stature |
ORPHA:8 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia |
ORPHA:2306 |
Chromosome Xp11.3 Deletion Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:300578 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resist... |
OMIM:608594 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Warburg Micro Syndrome 3 |
|
Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:614222 |
Glucagonoma |
|
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:97280 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyroidism, Abnormal circulating folli... |
ORPHA:93325 |
W Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2804 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Bilateral tonic-clonic seizure |
OMIM:201475 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsu... |
ORPHA:2126 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypoglycemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia |
ORPHA:175 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, In... |
ORPHA:508 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:3044 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Hyperinsulinemia, Insulin-... |
OMIM:269700 |
Ppoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan... |
ORPHA:97278 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:615474 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
ORPHA:329308 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms |
OMIM:252160 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... |
ORPHA:513456 |
Amish Lethal Microcephaly |
|
Bilateral tonic-clonic seizure |
ORPHA:99742 |
Developmental And Epileptic Encephalopathy 95 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Status epilept... |
OMIM:618143 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:293978 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Hypercalcemia, Delayed puberty |
ORPHA:251004 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:423479 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating thyroid ... |
OMIM:619991 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... |
ORPHA:276621 |
Hermansky-Pudlak Syndrome 10 |
|
Bilateral tonic-clonic seizure, Focal myoclonic seizure |
OMIM:617050 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
1Q44 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:238769 |
Jaberi-Elahi Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:617988 |
Grfoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma... |
ORPHA:97261 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Sandhoff Disease |
|
Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:268800 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive |
ORPHA:905 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
ORPHA:496641 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... |
ORPHA:29072 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:247262 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Generalized-onset seizure, Aggressive behavior, Obesity, Seizure, Self-injurious b... |
OMIM:616078 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Seizure, Failure to thrive, Large for gestational age |
OMIM:614520 |
Glass Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... |
OMIM:612313 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Secondary hyperparathyroidism |
ORPHA:2785 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... |
OMIM:601678 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypoplasia of the thymus, Hypocalcemia, Hypothyroidism |
ORPHA:567 |
Sotos Syndrome |
|
Aggressive behavior, Increased body weight, Seizure, Overgrowth, Attention deficit hyperactivity ... |
OMIM:117550 |
Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:617799 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoclonic seizure, ... |
ORPHA:268261 |
Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618733 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating leptin concentration, Insulin-resis... |
ORPHA:79474 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Bilateral tonic-clonic seizure |
ORPHA:436159 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:620066 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Increased body weight, Seizure, Abdominal obesity, Compulsive behaviors, Abnormal te... |
ORPHA:398069 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... |
OMIM:277440 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure |
OMIM:257300 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Hypothyroidism, Thyroiditis, Aplasia of the thymus |
ORPHA:83471 |
Pheochromocytoma |
|
Pheochromocytoma, Hypercalcemia |
OMIM:171300 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated circulating... |
ORPHA:99880 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure |
ORPHA:2636 |
Webb-Dattani Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:615926 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:620330 |
Parathyroid Carcinoma |
|
Hypercalcemia, Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated circulating... |
ORPHA:143 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Head-banging, Seizure, Self-injurious behavior, Attention deficit hyperactivity disor... |
OMIM:619575 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Hypercalcemia, Thyroid C cell hyperplasia, Primary hyperparathyro... |
ORPHA:653 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Seizure, Typical absence seizure |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Seizure, Typical absence seizure |
ORPHA:352665 |
Helsmoortel-Van Der Aa Syndrome |
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Seizure, Typical absence seizure, Tonic seizure |
OMIM:615873 |
X Small Rings |
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Seizure, Bilateral tonic-clonic seizure |
ORPHA:96201 |
Dubowitz Syndrome |
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Hypocholesterolemia |
OMIM:223370 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:255210 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:612474 |
Japanese Encephalitis |
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Status epilepticus, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus |
ORPHA:79139 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Death in infancy, Bilateral tonic-clonic seizure, Seizure, Myoclonus, Death in childhood |
OMIM:618426 |
Digeorge Syndrome |
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Parathyroid agenesis, Decreased circulating parathyroid hormone level, Parathyroid hypoplasia, Ab... |
OMIM:188400 |
Alternating Hemiplegia Of Childhood |
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Seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus |
ORPHA:2131 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Agitation, Small for gestational age, Weight loss |
ORPHA:424 |
Melas |
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Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:550 |
Oliver Syndrome |
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Bilateral tonic-clonic seizure |
ORPHA:2920 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Hypercalcemia |
ORPHA:476126 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Decreased response to growth hormone stimulation test, Hypocalcemia, Small pituitary gland, Hypom... |
OMIM:619503 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Seizure, Bilateral tonic-clonic seizure |
OMIM:301040 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Focal-onset seizure, Typical absence seizure, Atonic seizure |
OMIM:617157 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Bilateral tonic-clonic seizure |
ORPHA:79124 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:488627 |
Lujo Hemorrhagic Fever |
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Seizure, Bilateral tonic-clonic seizure |
ORPHA:319213 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Seizure, Bilateral tonic-clonic seizure, Death in infancy, Death in childhood |
OMIM:610505 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms |
ORPHA:447997 |
Cocaine Intoxication |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... |
ORPHA:90068 |
D-Bifunctional Protein Deficiency |
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Seizure, Bilateral tonic-clonic seizure |
OMIM:261515 |
1P21.3 Microdeletion Syndrome |
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Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Smith-Lemli-Opitz Syndrome |
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Precocious puberty, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hyp... |
OMIM:270400 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
ORPHA:99885 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Charge Syndrome |
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Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Agitation, Weight loss |
ORPHA:99819 |
Johanson-Blizzard Syndrome |
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Diabetes mellitus, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Hypoc... |
OMIM:243800 |
Multiple Myeloma |
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Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Carpenter Syndrome 2 |
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Generalized non-motor (absence) seizure |
OMIM:614976 |
Narcolepsy 7 |
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Obesity |
OMIM:614250 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:500150 |
De Sanctis-Cacchione Syndrome |
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Bilateral tonic-clonic seizure |
OMIM:278800 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure |
OMIM:619512 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Generalized non-motor (absence) seizure |
ORPHA:77293 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Increased body weight |
OMIM:615830 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Febrile seizure (within the age ran... |
ORPHA:459070 |
Hallermann-Streiff Syndrome |
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Bilateral tonic-clonic seizure |
OMIM:234100 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99413 |
Mosaic Monosomy X |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99228 |
Monosomy X |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99226 |
Turner Syndrome |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:881 |
Tenorio Syndrome |
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Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Sotos Syndrome |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ... |
ORPHA:821 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure |
OMIM:301044 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:280000 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:614947 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Bilateral tonic-clonic seizure |
OMIM:252010 |
Holoprosencephaly 14 |
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Bilateral tonic-clonic seizure |
OMIM:619895 |
Ogden Syndrome |
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Generalized-onset seizure, Bilateral tonic-clonic seizure |
OMIM:300855 |
Adrenocortical Carcinoma |
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Increased body weight, Weight loss |
ORPHA:1501 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Bilateral tonic-clonic seizure |
ORPHA:457359 |
Gaucher Disease |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
ORPHA:355 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Generalized myoclonic-atonic seizure, Seizure, Bilateral tonic-clonic seizure |
OMIM:614756 |
Hartsfield Syndrome |
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Bilateral tonic-clonic seizure |
OMIM:615465 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Abdominal obesity, Increased body weight |
ORPHA:189427 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Failure to thrive, Increased body weight |
ORPHA:264580 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Increased body weight |
ORPHA:79240 |
Williams Syndrome |
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Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine kinase concentration,... |
ORPHA:904 |
Orofaciodigital Syndrome Type 2 |
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Bilateral tonic-clonic seizure |
ORPHA:2751 |
Doors Syndrome |
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Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure |
ORPHA:79500 |
Williams-Beuren Syndrome |
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Diabetes mellitus, Hypercalcemia, Glucose intolerance, Early onset of sexual maturation, Hypothyr... |
OMIM:194050 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Mowat-Wilson Syndrome |
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Focal-onset seizure, Seizure, Status epilepticus, Atypical absence seizure |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Focal-onset seizure, Seizure, Atypical absence seizure |
ORPHA:261537 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Generalized ton... |
ORPHA:438213 |
Sarcoidosis |
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Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Abnormality of the adrenal glands, Hypothyroi... |
ORPHA:797 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Focal-onset seizure, Seizure, Atypical absence seizure |
ORPHA:261552 |
Choreoacanthocytosis |
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Seizure, Bilateral tonic-clonic seizure |
ORPHA:2388 |
Alström Syndrome |
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Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... |
ORPHA:64 |
Osteopetrosis, Autosomal Recessive 7 |
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Hypocalcemic seizures |
OMIM:612301 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Pmm2-Cdg |
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Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
Cushing Disease |
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Truncal obesity, Abdominal obesity, Increased body weight |
ORPHA:96253 |
Kabuki Syndrome 1 |
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Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:147920 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity |
ORPHA:99889 |
Carney Complex |
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Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |