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Gene: Celf4 MGI:1932407

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 cholesterol level Celf4tm1a(EUCOMM)Wtsi HET Early adult 7.15×10-05
decreased circulating calcium level Celf4tm1a(EUCOMM)Wtsi HET Early adult 1.51×10-05

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 Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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DSS Histology

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8 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Celf4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Celf4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Celf4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Celf4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Celf4tm1a(EUCOMM)Wtsi
WT, Male, WTSI

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 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
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
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... OMIM:618559
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:616981
Chylomicron Retention Disease
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
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:226750
Hyperparathyroidism 4
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... ORPHA:79445
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity OMIM:613402
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... ORPHA:2238
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Hyperlysinemia, Type I
Seizure, Hyperactivity OMIM:238700
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... OMIM:612462
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Lafora Disease
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
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
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ... ORPHA:289266
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... OMIM:301033
Intellectual Developmental Disorder, Autosomal Recessive 46
Aggressive behavior, Large for gestational age, Seizure, Self-injurious behavior, Agitation OMIM:616116
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Morbid Obesity And Spermatogenic Failure
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
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617290
Intellectual Developmental Disorder, X-Linked 91
Seizure, Obesity OMIM:300577
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Phonic tics, Seizure, Compulsive behaviors OMIM:301107
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity, Aggressive behavior OMIM:248510
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Intellectual Developmental Disorder, X-Linked 107
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
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Infantile Convulsions And Choreoathetosis
Focal-onset seizure, Seizure, Complex febrile seizure, Focal impaired awareness seizure, Experien... ORPHA:31709
Liang-Wang Syndrome
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
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Tubulinopathy-Associated Dysgyria
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
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics OMIM:619927
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... OMIM:612736
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:301058
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Familial Infantile Myoclonic Epilepsy
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
Hyperactivity, Obesity, Aggressive behavior OMIM:620270
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... OMIM:144650
Muscular Dystrophy, Congenital, With Or Without Seizures
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
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
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
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Failure to thrive OMIM:618362
Late Infantile Neuronal Ceroid Lipofuscinosis
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
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
Seizure, Typical absence seizure ORPHA:352665
Helsmoortel-Van Der Aa Syndrome
Seizure, Typical absence seizure, Tonic seizure OMIM:615873
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:255210
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Japanese Encephalitis
Status epilepticus, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus ORPHA:79139
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Bilateral tonic-clonic seizure, Seizure, Myoclonus, Death in childhood OMIM:618426
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Parathyroid hypoplasia, Ab... OMIM:188400
Alternating Hemiplegia Of Childhood
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus ORPHA:2131
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Small for gestational age, Weight loss ORPHA:424
Melas
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:550
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Hypocalcemia, Small pituitary gland, Hypom... OMIM:619503
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Bilateral tonic-clonic seizure OMIM:301040
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Focal-onset seizure, Typical absence seizure, Atonic seizure OMIM:617157
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:488627
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure ORPHA:319213
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Bilateral tonic-clonic seizure, Death in infancy, Death in childhood OMIM:610505
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms ORPHA:447997
Cocaine Intoxication
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... ORPHA:90068
D-Bifunctional Protein Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:261515
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Smith-Lemli-Opitz Syndrome
Precocious puberty, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hyp... OMIM:270400
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:99885
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Johanson-Blizzard Syndrome
Diabetes mellitus, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Hypoc... OMIM:243800
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Narcolepsy 7
Obesity OMIM:614250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:500150
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619512
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure ORPHA:77293
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Febrile seizure (within the age ran... ORPHA:459070
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Sotos Syndrome
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
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
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:280000
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:614947
Mitochondrial Complex I Deficiency, Nuclear Type 1
Bilateral tonic-clonic seizure OMIM:252010
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:300855
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Gaucher Disease
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:355
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Generalized myoclonic-atonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:614756
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Williams Syndrome
Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine kinase concentration,... ORPHA:904
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Williams-Beuren Syndrome
Diabetes mellitus, Hypercalcemia, Glucose intolerance, Early onset of sexual maturation, Hypothyr... OMIM:194050
Histidinemia
Hyperactivity ORPHA:2157
Mowat-Wilson Syndrome
Focal-onset seizure, Seizure, Status epilepticus, Atypical absence seizure ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal-onset seizure, Seizure, Atypical absence seizure ORPHA:261537
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Generalized ton... ORPHA:438213
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Abnormality of the adrenal glands, Hypothyroi... ORPHA:797
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal-onset seizure, Seizure, Atypical absence seizure ORPHA:261552
Choreoacanthocytosis
Seizure, Bilateral tonic-clonic seizure ORPHA:2388
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... ORPHA:64
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Hellp Syndrome
Increased body weight ORPHA:244242
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318
Cushing Disease
Truncal obesity, Abdominal obesity, Increased body weight ORPHA:96253
Kabuki Syndrome 1
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
Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Celf4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Celf4.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Celf4tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Celf4tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Celf4tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Celf4tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Celf4tm1a(EUCOMM)Wtsi PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wellcome open research (January 2016) Celf4tm1a(EUCOMM)Wtsi PMC5159622

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MGI Allele Allele Type Produced
Celf4tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Celf4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Celf4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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