Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Celf4tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating calcium level Celf4tm1a(EUCOMM)Wtsi HET Early adult 1.51×10-05
impaired glucose tolerance Celf4tm1a(EUCOMM)Wtsi HET Early adult 7.11×10-06
increased circulating insulin level Celf4tm1a(EUCOMM)Wtsi HET   Early adult 6.19×10-05
decreased circulating cholesterol level Celf4tm1a(EUCOMM)Wtsi HET Early adult 7.15×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Legacy Phenotype Associated Images

View all 99 images

Human diseases caused by Celf4 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Myoclonic Epilepsy, Progressive
Generalized myoclonic seizure OMIM:310370
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Mental Retardation, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:617924
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Seizure OMIM:618113
Kifafa Seizure Disorder
Seizure OMIM:245180
Mental Retardation, Autosomal Dominant 3
Seizure OMIM:612580
Mental Retardation, Autosomal Dominant 41
Seizure OMIM:616944
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
Mental Retardation, Autosomal Dominant 2
Seizure OMIM:614113
Mental Retardation, Autosomal Recessive 10
Seizure OMIM:611096
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Autism, Susceptibility To, X-Linked 6
Seizure OMIM:300872
Mental Retardation, X-Linked 88
Seizure OMIM:300852
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Mental Retardation, Autosomal Recessive 52
Seizure OMIM:616887
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal hemiclonic s... OMIM:615744
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
Photosensitive tonic-clonic seizure OMIM:226800
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic seizure, Myoclonic absence seizure, Atypical absence seizure OMIM:618596
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Seizures, Benign Familial Infantile, 2
Focal-onset seizure, Generalized-onset seizure OMIM:605751
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... ORPHA:139426
Developmental And Epileptic Encephalopathy 57
Seizure, Generalized myoclonic seizure, Atypical absence seizure OMIM:617771
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Mental Retardation, Autosomal Recessive 2
Seizure, Attention deficit hyperactivity disorder OMIM:607417
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Mental Retardation, Autosomal Dominant 45
Seizure, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... OMIM:607208
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... OMIM:615697
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus OMIM:616421
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:203330
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Mental Retardation, Autosomal Recessive 63
Generalized myoclonic seizure OMIM:618095
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Epilepsy, Progressive Myoclonic, 6
Seizure, Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:614018
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Seizure, Attention deficit hyperactivity disorder OMIM:245570
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Continuous Spikes And Waves During Sleep
Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, F... ORPHA:725
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Large for gestational age, Hyperactivity ORPHA:356996
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Seizure, Truncal obesity, Large for gestational age OMIM:240900
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:254800
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... ORPHA:101046
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Atypical absence seizure, Focal he... OMIM:617350
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atonic seizure, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Focal impa... OMIM:618587
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, M... ORPHA:2382
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:266100
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:86909
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... OMIM:619157
Pseudohypoparathyroidism Type 2
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Elevated circulating parathyroid hor... ORPHA:94090
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure OMIM:615476
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal-onset seizur... ORPHA:36387
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Myoclonic status epilepticus, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Developmental And Epileptic Encephalopathy 56
Ataxia, Seizure, Status epilepticus, Attention deficit hyperactivity disorder, Broad-based gait OMIM:617665
Developmental And Epileptic Encephalopathy 30
Seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Developmental And Epileptic Encephalopathy 43
Seizure, Ataxia, Hyperactivity OMIM:617113
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:35878
Isolated Focal Cortical Dysplasia
Focal-onset seizure, Seizure, Infantile spasms, Focal impaired awareness seizure, Bilateral tonic... ORPHA:65683
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus, Generalized myoclonic seizure OMIM:220300
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Tonic seizure OMIM:618924
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities
Seizure, Status epilepticus, Gait ataxia, Attention deficit hyperactivity disorder OMIM:618687
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:619000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Developmental And Epileptic Encephalopathy 67
Seizure, Generalized non-motor (absence) seizure, Generalized myoclonic seizure OMIM:618141
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... OMIM:619338
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia OMIM:146200
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Landau-Kleffner Syndrome
Generalized clonic seizure, Non-convulsive status epilepticus without coma, Bilateral tonic-cloni... ORPHA:98818
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Polymicrogyria, Bilateral Temporooccipital
Seizure, Status epilepticus, Focal impaired awareness seizure OMIM:612691
Mental Retardation, Autosomal Dominant 52
Seizure, Hyperactivity OMIM:617796
Unilateral Hemispheric Polymicrogyria
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic seizure, Infantile spasms, Gene... ORPHA:101071
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Atonic seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizure with generalized onset,... ORPHA:2590
Developmental And Epileptic Encephalopathy 6B
Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Status epilepticu... OMIM:619317
Seizures, Benign Familial Infantile, 3
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile seizure, Focal ... ORPHA:98820
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-cloni... OMIM:616645
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:617836
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Congenital hypoparathyroidism, Hypomagnesemia, Parathyroid agenesis, Hyperphosphate... ORPHA:2239
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:613608
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:603233
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Seizure, Gait disturbance, Obesity ORPHA:436141
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Attention deficit hyperactivity disorder OMIM:617787
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Myoclonus, Generalized myoclonic seizure OMIM:208700
Mental Retardation, Autosomal Recessive 37
Seizure, Hyperactivity OMIM:615493
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity OMIM:300271
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Typical absence s... ORPHA:101070
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-motor (absence) seizure, Seiz... OMIM:271980
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Myoclonus, Generalized-onset seizure ORPHA:86814
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, F... ORPHA:1945
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Encephalopathy Due To Prosaposin Deficiency
Death in infancy, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Autosomal Dominant Non-Syndromic Intellectual Disability
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... ORPHA:178469
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Seizure, Hyperactivity OMIM:616657
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level OMIM:619073
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity ORPHA:436151
Paroxysmal Exertion-Induced Dyskinesia
Seizure, Generalized non-motor (absence) seizure ORPHA:98811
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Early onset absence seizures... ORPHA:3006
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Mental Retardation, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Bilateral Generalized Polymicrogyria
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... ORPHA:208447
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Dravet Syndrome
Generalized clonic seizure, Complex febrile seizure, Febrile seizure (within the age range of 3 m... ORPHA:33069
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Carnosinase Deficiency
Generalized myoclonic seizure ORPHA:1361
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure OMIM:616281
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Generalized-onset seizure OMIM:613722
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Focal impaired ... ORPHA:330050
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
2P21 Microdeletion Syndrome
Hypocalcemia, Hypogonadism, Hypoglycemia ORPHA:163693
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mell... ORPHA:280356
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Generalized-onset seizure OMIM:602066
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral ton... OMIM:254780
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia OMIM:232700
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Seizure, Dysmetria, Hyperactivity, Generalized myoclonic sei... OMIM:618090
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Focal tonic seizure, Generalized non-motor (absence) seizure, Sei... ORPHA:485350
Intellectual Developmental Disorder, X-Linked 98
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Generalized-onset seizure, ... OMIM:300912
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Small for gestational age, Hyperactivity ORPHA:85288
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Infantile spasms, Myoclonic seizure, Generalized-onset seizure OMIM:618677
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Focal impaire... ORPHA:411986
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive myoclonic seizure, ... ORPHA:263516
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Rare Non-Syndromic Intellectual Disability
Seizure, Bilateral tonic-clonic seizure ORPHA:101685
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Immunodeficiency 8
Hyperactivity OMIM:615401
Adamantinoma
Hypercalcemia ORPHA:55881
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Microcephaly, Seizures, And Developmental Delay
Seizure, Ataxia, Hyperactivity OMIM:613402
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619301
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79084
Mental Retardation, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Developmental And Epileptic Encephalopathy 79
Seizure, Status epilepticus, Bilateral tonic-clonic seizure with generalized onset, Myoclonic sei... OMIM:618559
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Microduplication Xp11.22P11.23 Syndrome
Seizure, Obesity ORPHA:217377
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus OMIM:613839
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Mental Retardation, Autosomal Recessive 57
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Seizure, Gene... OMIM:617188
Lafora Disease
Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizure, Bilateral tonic... ORPHA:501
Myoclonic-Astatic Epilepsy
Atonic seizure, Focal-onset seizure, Simple febrile seizure, Generalized non-motor (absence) seiz... ORPHA:1942
Hernández-Aguirre Negrete Syndrome
Seizure, Obesity ORPHA:2139
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619302
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Seizure, Attention deficit hyperactivity disorder, Obesity OMIM:618725
Hyperparathyroidism 4
Parathyroid carcinoma, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Genera... ORPHA:382
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Spastic Paraplegia 82, Autosomal Recessive
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset OMIM:618770
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Epileptic spasm, G... OMIM:612164
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Ataxia, Seizure, Obesity, Waddling gait, Generalized myoclonic seizu... OMIM:616756
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... ORPHA:363558
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:289266
Familial Isolated Hypoparathyroidism
Hypocalcemia, Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level ORPHA:2238
Familial Infantile Myoclonic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Simple febrile seizure, Seizure, Bilateral t... ORPHA:352582
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Cubitus Valgus With Mental Retardation And Unusual Facies
Seizure, Truncal obesity OMIM:300471
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Weight loss,... ORPHA:248111
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Benign Familial Neonatal Epilepsy
Generalized tonic seizure, Focal-onset seizure, Status epilepticus, Simple febrile seizure, Focal... ORPHA:1949
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity OMIM:608747
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertri... OMIM:604367
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Seizure, Bilateral tonic-clonic seizure with generalized onset OMIM:618730
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure OMIM:300423
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic absence seizure, Bilater... ORPHA:64280
Hyperprolinemia, Type I
Seizure, Status epilepticus, Ataxia, Hyperactivity OMIM:239500
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:726
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Mental Retardation, X-Linked 91
Seizure, Obesity OMIM:300577
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:301058
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Lethargy, Failure to thrive, Hyperactivity OMIM:274270
Syngap1-Related Developmental And Epileptic Encephalopathy
Eating-induced seizure, Myoclonic absence seizure, Generalized-onset seizure ORPHA:544254
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Hypocalcemia, Neonatal hypoglycemia, Decreased response to growth... OMIM:606407
Aminoacylase 1 Deficiency
Seizure, Hyperactivity OMIM:609924
Timothy Syndrome
Hypocalcemia, Hypothyroidism, Hypoglycemia OMIM:601005
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:618917
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Type II diabetes mellitus, Decrea... OMIM:615703
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal to... ORPHA:168491
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Autism, Susceptibility To, 18
Seizure, Overweight, Tall stature OMIM:615032
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, A... ORPHA:98795
Obesity, Hyperphagia, And Developmental Delay
Seizure, Obesity OMIM:613886
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Pituitary resistance to thyroid horm... ORPHA:94089
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Seizure, Myoclonus, Hyperactivity OMIM:615924
X-Linked Non-Syndromic Intellectual Disability
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:777
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Nicolaides-Baraitser Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Epileptic spasm ORPHA:3051
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Rasmussen Subacute Encephalitis
Generalized tonic seizure, Focal-onset seizure, Generalized convulsive status epilepticus, Focal ... ORPHA:1929
Rafiq Syndrome
Seizure, Obesity OMIM:614202
Unilateral Focal Polymicrogyria
Simple febrile seizure, Seizure, Focal impaired awareness seizure, Focal motor seizure, Bilateral... ORPHA:268947
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Hyperlipoproteinemia, Type V
Increased VLDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased circ... OMIM:144650
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Delayed puberty, Hypocholesterolemia OMIM:616834
Glycine Encephalopathy
Seizure, Lethargy, Myoclonus, Hyperactivity OMIM:605899
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Diabeti... ORPHA:99886
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemic... ORPHA:36913
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Coffin-Siris Syndrome 8
Seizure, Failure to thrive, Hyperactivity OMIM:618362
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Parathyroid adenoma, Hypercalcemia, Primary hyperparathyroidism, Elevated circu... ORPHA:99879
Lissencephaly Due To Lis1 Mutation
Generalized tonic seizure, Atypical absence seizure, Atonic seizure, Seizure, Focal impaired awar... ORPHA:95232
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Unsteady gait, Ataxia, Obesity OMIM:614947
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Hyperactivity OMIM:604317
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Mental Retardation, Autosomal Recessive 13
Seizure, Truncal obesity, Hyperactivity OMIM:613192
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
11P15.4 Microduplication Syndrome
Seizure, Obesity ORPHA:300305
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Convulsive status epilepticus OMIM:618760
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:614487
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity OMIM:248510
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Seizure, Obesity ORPHA:3055
Apnea, Obstructive Sleep
Focal impaired awareness seizure OMIM:107650
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Ataxia, Obesity, Seizure, Hyperactivity, Broad-based gait ORPHA:411515
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Foxg1 Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Infantile spasms ORPHA:561854
Clark-Baraitser Syndrome
Seizure, Obesity, Hyperactivity OMIM:617752
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:464282
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... ORPHA:140286
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Nephronophthisis 15
Seizure, Obesity OMIM:614845
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Generalized-onset seizure ORPHA:459074
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hyperphosphatemia, Hypocalcemic seizures, Decreased ... OMIM:241410
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Seizure, Tonic seizure, Failure to thrive, Hyperactivity, Infantile spasms OMIM:619239
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Narcolepsy Type 1
Obesity ORPHA:2073
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:313772
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Intellectual Developmental Disorder, X-Linked 104
Seizure, Ataxia, Hyperactivity OMIM:300983
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Infantile Convulsions And Choreoathetosis
Experiential epileptic aura, Focal-onset seizure, Seizure, Focal impaired awareness seizure, Comp... ORPHA:31709
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia, Increased C-pep... ORPHA:528
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Parathyroid hyperplasia, Hypophosphatemic rickets, Hypercalcemia, Elevated circ... OMIM:612089
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Seizure, Bilateral tonic-clonic seizure ORPHA:529665
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Mandibuloacral Dysplasia
Hypercholesterolemia, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Insulin-resistan... ORPHA:2457
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Seizure, Myoclonus, Generalized-onset seizure, Generalized myoclonic seizure OMIM:159950
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... ORPHA:395
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Hyperlysinemia, Type I
Seizure, Hyperactivity OMIM:238700
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Atonic seizure, Bilateral tonic-clonic seizure, Generalize... ORPHA:79351
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:617994
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Hyperparathyroidism ORPHA:2668
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Summitt Syndrome
Obesity OMIM:272350
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance ORPHA:363400
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Hypoparathyroidism, Hypothyroidism ORPHA:1563
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Focal Cortical Dysplasia, Type Ii
Focal impaired awareness seizure OMIM:607341
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Impaired glucose tolerance, Glucose intolerance OMIM:606069
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... OMIM:606176
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Seizure, Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Mental Retardation, Autosomal Dominant 43
Seizure, Hyperactivity OMIM:616977
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Focal-onset seizure, Seizure, Hyperactivity, Generalized-onset seizure, Epileptic spasm ORPHA:88616
Baralle-Macken Syndrome
Inability to walk, Focal-onset seizure, Dystonia, Obesity OMIM:619255
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism OMIM:244460
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... ORPHA:435638
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hyperparathyroidism OMIM:239199
Xq25 Microduplication Syndrome
Seizure, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Seizure, Hyperactivity OMIM:300979
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity OMIM:300434
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasm... ORPHA:457351
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Mehmo Syndrome
Inability to walk, Gait ataxia, Difficulty walking, Seizure, Small for gestational age, Obesity OMIM:300148
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Atonic seizure, Gait disturbance, Bilateral tonic-clonic seizure, Unsteady gai... ORPHA:93952
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Decreased response to growth hormone stimuation test, Adrenal hypoplasia OMIM:614732
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:488613
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Seizure, Obesity ORPHA:276630
Hyperekplexia-Epilepsy Syndrome
Generalized tonic seizure, Focal impaired awareness seizure ORPHA:163985
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance ORPHA:75563
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure OMIM:619091
Kohlschutter-Tonz Syndrome-Like
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Seizure, Focal myoclo... OMIM:619229
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hypothyroidism, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Sotos Syndrome 3
Hyperactivity OMIM:617169
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Hypercalcemia, Parathyroid adenoma, Hyperpar... OMIM:145001
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Seizure, Dystonia, Ataxia, Hyperactivity OMIM:612716
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Generalized myoclonic ... ORPHA:1947
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level, Secondary hyperpa... ORPHA:289157
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia OMIM:175500
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Coenzyme Q10 Deficiency, Primary, 9
Bilateral tonic-clonic seizure with generalized onset, Myoclonus OMIM:619028
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Small for gestational age, Failure to thrive, Hyperactivity OMIM:609425
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:1934
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Calc... ORPHA:79444
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hypoketotic hypoglycemia, Increased circulating free fatty acid le... ORPHA:26793
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circulating parathyroid h... OMIM:612462
Cholera
Hypocalcemia, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia ORPHA:173
Molybdenum Cofactor Deficiency, Complementation Group C
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Febrile seizure (within the age range of 3 months to 6 years)... ORPHA:42
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Overweight, Difficulty walking, Seizure, Waddling gait ORPHA:280763
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Hyperparathyroidism ORPHA:93160
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53