Gene Summary

Name:
CUGBP, Elav-like family member 4
Synonyms:
C130060B05Rik,  Brunol4,  BRUNOL-4,  Brul4,  A230070D14Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Celf4tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating insulin level Celf4tm1a(EUCOMM)Wtsi HET Early adult 6.19×10-05
impaired glucose tolerance Celf4tm1a(EUCOMM)Wtsi HET Early adult 6.71×10-06
decreased circulating calcium level Celf4tm1a(EUCOMM)Wtsi HET Early adult 1.51×10-05
decreased circulating cholesterol level Celf4tm1a(EUCOMM)Wtsi HET Early adult 7.15×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

DSS Histology

Images

8 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 99 images

Human diseases caused by Celf4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Celf4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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 non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... 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
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Kifafa Seizure Disorder
Seizure OMIM:245180
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
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, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... OMIM:609446
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Epilepsy, Familial Temporal Lobe, 4
Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features OMIM:611631
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Epilepsy, Photogenic, With Spastic Diplegia And Impaired Intellectual Development
Photosensitive tonic-clonic seizure OMIM:226800
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure OMIM:117100
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:22
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... OMIM:618883
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Developmental And Epileptic Encephalopathy 57
Seizure, Epileptic spasm, Tonic seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure... OMIM:616346
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic s... OMIM:615006
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... OMIM:619970
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:203330
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Eyelid myoclonus, Gen... OMIM:616421
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:616409
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613722
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atypical abs... OMIM:617113
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic 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
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,... OMIM:618587
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizur... OMIM:614018
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:615127
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:86909
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic... OMIM:618141
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:619157
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Lennox-Gastaut Syndrome
Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Atonic... ORPHA:2382
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Focal-onset seizure OMIM:602066
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:613855
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce... ORPHA:94090
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-cl... OMIM:245570
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Seizure, Hyperactivity OMIM:615493
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Seizure, Generalized non... ORPHA:98818
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... OMIM:617389
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:616187
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Status ... OMIM:617665
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Developmental Delay With Or Without Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:620540
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure OMIM:613886
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset... 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
Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila... OMIM:605021
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Epilepsy, Nocturnal Frontal Lobe, 1
Focal-onset seizure, Seizure OMIM:600513
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Bilateral tonic-clon... ORPHA:2590
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure OMIM:162350
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... ORPHA:101071
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Developmental And Epileptic Encephalopathy 34
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s... OMIM:616645
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... OMIM:617935
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Focal hemifacial clonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:608105
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure ORPHA:86814
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... OMIM:620145
Developmental And Epileptic Encephalopathy 98
Refractory status epilepticus, Focal-onset seizure, Death in childhood, Death in infancy, Clonic ... OMIM:619605
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus, Generalized myoc... OMIM:616540
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... OMIM:601764
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi... OMIM:617711
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status epilepticus OMIM:618924
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure OMIM:208700
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder, Seizure OMIM:607417
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal impa... OMIM:617904
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity OMIM:619031
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613608
Intellectual Developmental Disorder, Autosomal Dominant 46
Tonic seizure, Infantile spasms, Focal impaired awareness seizure, Seizure OMIM:617601
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Familial Focal Epilepsy With Variable Foci
Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral tonic-clonic s... ORPHA:98820
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... ORPHA:2239
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... OMIM:619616
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Seizure, Hyperactivity, Dysphagia, Status epilepticus, Impulsivity OMIM:620448
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased circulating... OMIM:146200
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy, Seizure OMIM:620065
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:603233
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
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
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac... OMIM:301008
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-... OMIM:271980
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Bilateral tonic-clonic ... OMIM:616139
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Status epilepticus without prominent motor symptoms, Myoclonus, Focal-onset seizure, Bilateral to... OMIM:204300
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617836
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... ORPHA:101070
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
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
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Developmental And Epileptic Encephalopathy 60
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Focal impaired awareness seizure OMIM:617929
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure ORPHA:98811
Stxbp1-Related Encephalopathy
Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Epileptic spasm, Infant... ORPHA:599373
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia OMIM:619073
Bilateral Generalized Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Generalized-onset seizure, Infantile spas... ORPHA:208447
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... OMIM:619854
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Dravet Syndrome
Epilepsia partialis continua, Focal impaired awareness seizure, Febrile seizure (within the age r... ORPHA:33069
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Encephalopathy Due To Prosaposin Deficiency
Death in infancy, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizure, Bilat... OMIM:619913
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Seizure OMIM:608636
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:616281
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure ORPHA:436151
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, Focal tonic seizure, Bilateral t... OMIM:617106
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal impaired awareness seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, S... ORPHA:330050
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Generalized tonic seizure... OMIM:617976
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia, Hypoglycemia ORPHA:163693
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h... ORPHA:94086
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Autism, Susceptibility To, X-Linked 6
Obesity, Seizure OMIM:300872
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Seizure ORPHA:436141
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal imp... ORPHA:382
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Clcn4-Related X-Linked Intellectual Disability Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Focal tonic seizur... ORPHA:485350
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Pyridoxine-Dependent Epilepsy
Focal aware motor seizure, Focal myoclonic seizure, Seizure, Early onset absence seizures, Epilep... ORPHA:3006
Bardet-Biedl Syndrome 10
Obesity, Seizure OMIM:615987
Yoon-Bellen Neurodevelopmental Syndrome
Infantile spasms, Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic-atoni... OMIM:619701
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... OMIM:619881
Lissencephaly 3
Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure OMIM:611603
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... OMIM:601198
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Large for gestational age, Truncal obesity ORPHA:293964
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity, Seizure OMIM:618725
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level OMIM:618618
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Seizure, Hyperactivity ORPHA:85288
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Focal hemicl... ORPHA:293181
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Seizure OMIM:615362
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ... ORPHA:411986
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Benign Familial Neonatal-Infantile Seizures
Focal clonic seizure, Tonic seizure, Neonatal seizure, Bilateral tonic-clonic seizure ORPHA:140927
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Developmental And Epileptic Encephalopathy 28
Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali... OMIM:616211
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Benign Familial Neonatal Epilepsy
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni... ORPHA:1949
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Myoclonus, Generalized myoclonic seizure, Seizure OMIM:301020
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Intellectual Developmental Disorder, Autosomal Recessive 57
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... OMIM:617188
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal... OMIM:615859
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Adamantinoma
Hypercalcemia ORPHA:55881
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Hyperprolinemia, Type I
Seizure, Aggressive behavior, Hyperactivity, Motor stereotypy, Status epilepticus OMIM:239500
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619301
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Multifocal seizures, Seizure, Generalized non-motor (absence) sei... OMIM:618170
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Microduplication Xp11.22P11.23 Syndrome
Obesity, Seizure ORPHA:217377
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity, Seizure ORPHA:300305
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure OMIM:618770
Hernández-Aguirre Negrete Syndrome
Obesity, Seizure ORPHA:2139
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei... OMIM:617600
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:300558
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Obesity, Bilateral tonic-clonic seizure OMIM:240900
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Epileptic spasm, Myoclonus, Tonic seizure, Bilateral tonic-clonic sei... OMIM:618497
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617082
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619302
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co... OMIM:620121
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Seizure OMIM:620317
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity, Seizure OMIM:300471
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Infantile Convulsions And Choreoathetosis
Seizure, Complex febrile seizure, Focal-onset seizure, Focal impaired awareness autonomic seizure... ORPHA:31709
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Hartnup Disorder
Generalized tonic seizure, Attention deficit hyperactivity disorder, Hyperactivity, Seizure OMIM:234500
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus, Focal impaired awareness seizure, Seizure OMIM:613970
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Salt And Pepper Developmental Regression Syndrome
Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:609056
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Developmental And Epileptic Encephalopathy 79
Migrating focal seizure, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure with generali... OMIM:618559
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Myoclonus, Bilateral tonic-clonic seizure, Focal hemiclonic seizure OMIM:616981
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Seizure OMIM:613402
Glycine Encephalopathy 1
Seizure, Myoclonus, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure, Seizure OMIM:226750
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Hyperparathyroidism 4
Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism OMIM:617343
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618090
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni... OMIM:619428
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620028
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera... ORPHA:289266
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... ORPHA:2238
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Myoclonic-Astatic Epilepsy
Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clo... ORPHA:1942
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... OMIM:612462
Lafora Disease
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... ORPHA:501
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Intellectual Developmental Disorder, X-Linked 91
Obesity, Seizure OMIM:300577
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure OMIM:617290
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty, Decreased HDL chol... OMIM:616834
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Seizure, Generalized-onset seizure, Self-mutilation, Aggressive behavior, Hype... OMIM:604317
Intellectual Developmental Disorder, X-Linked 107
Seizure, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,... OMIM:618067
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Seizure, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Seizure, Large for gestational age, Aggressive behavior, Agitation OMIM:616116
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Infantile spasm... OMIM:618012
Peho-Like Syndrome
Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617507
Tubulinopathy-Associated Dysgyria
Infantile spasms, Startle-induced seizure, Generalized non-motor (absence) seizure ORPHA:467166
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:301058
Cerebral Creatine Deficiency Syndrome 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Bilateral toni... OMIM:612736
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized ons... ORPHA:352582
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:204200
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:300607
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Neonatal death OMIM:618237
Nicolaides-Baraitser Syndrome
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:3051
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:94089
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Myoclonic seizure, Focal-onset seizure, Generalized non-motor (absence... OMIM:620166
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure ORPHA:544254
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Unilateral Focal Polymicrogyria
Seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor sei... ORPHA:268947
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Obesity, Hyperactivity OMIM:620270
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:618354
Intellectual Developmental Disorder, Autosomal Dominant 67
Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive behaviors OMIM:619927
Hyperlipoproteinemia, Type V
Increased circulating chylomicron concentration, Increased VLDL cholesterol concentration, Decrea... OMIM:144650
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure ORPHA:576283
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Typical absence seizure, Seizure, Myoclonus, Focal-onset seizure, Focal tonic ... ORPHA:168491
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Epileptic spasm, Status epilepticus without prominent motor symptoms, Generali... OMIM:617105
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Clonic seizure, Bil... OMIM:618917
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Hypocalcemic... ORPHA:36913
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Hypocalcemia, Hyper... OMIM:606407
Developmental And Epileptic Encephalopathy 110
Focal impaired awareness hemiclonic seizure, Generalized non-motor (absence) seizure OMIM:620149
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galactitol in plasma, Hy... ORPHA:79237
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Focal impaired a... ORPHA:1929
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity, Seizure OMIM:248510
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Coffin-Siris Syndrome 8
Self-injurious behavior, Failure to thrive, Seizure, Aggressive behavior, Hyperactivity OMIM:618362
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Seizure OMIM:616418
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Seizure ORPHA:209370
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Seizure, Generalized-onset seizure, Aggressive b... OMIM:619827
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, Epileptic spasm, Generalized tonic seizure, Bilateral tonic-clonic... OMIM:612164
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Seizure, Bilater... ORPHA:98795
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Seizure ORPHA:3055
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Seizure OMIM:609924
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6... OMIM:620292
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Alpers-Huttenlocher Syndrome
Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:726
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Periventricular Nodular Heterotopia 7
Infantile spasms, Seizure, Generalized non-motor (absence) seizure OMIM:617201
Nephronophthisis 15
Obesity, Seizure OMIM:614845
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Motor stereotypy, Hyperactivity, Seizure OMIM:619470
Intellectual Developmental Disorder With Autism And Macrocephaly
Seizure, Tall stature, Recurrent hand flapping, Pica, Overweight OMIM:615032
Neurodevelopmental Disorder With Involuntary Movements
Infantile spasms, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617493
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Hypoalbuminemia, Hypotriglyceridemia, Glycosuria,... ORPHA:2298
14Q11.2 Microduplication Syndrome
Seizure, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Hyperprolinemia Type 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... ORPHA:79101
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Seizure, Hyperactivity OMIM:274270
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Pancreatic isle... ORPHA:263455
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Clonic seizure, Status epile... OMIM:610539
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure OMIM:618760
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Timothy Syndrome
Hypothyroidism, Hypocalcemia, Hypoglycemia OMIM:601005
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:301091
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Stillbirth OMIM:617468
Dystonia 22, Juvenile-Onset
Bilateral tonic-clonic seizure OMIM:620453
Intellectual Developmental Disorder, Autosomal Recessive 13
Seizure, Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity OMIM:613192
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Generalized-onset seizure ORPHA:459074
Lissencephaly Due To Lis1 Mutation
Focal impaired awareness seizure, Seizure, Infantile spasms, Generalized tonic seizure, Atonic se... ORPHA:95232
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Seizure, Obesity, Inappropriate laughter, Polyphagia, Hyperactivity ORPHA:411515
Chromosome Xq25 Duplication Syndrome
Tall stature, Hyperactivity, Seizure OMIM:300979
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure ORPHA:314911
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Seizure OMIM:617182
Glycosylphosphatidylinositol Biosynthesis Defect 17
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Febrile seizure (within t... OMIM:618010
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:488635
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Congenita... OMIM:241410
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Apnea, Obstructive Sleep
Focal impaired awareness seizure OMIM:107650
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Seizure, Infantile spasms, Tonic seizure, Hyperactivity OMIM:619239
Intellectual Developmental Disorder, Autosomal Recessive 38
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... OMIM:615516
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type