Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
neurogenic differentiation 1
Synonyms:
Nd1,  BETA2,  bHLHa3,  Neurod

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Neurod1 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.

The table below shows human diseases associated to Neurod1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Neurod1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics OMIM:300830
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Hy... ORPHA:599373
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Hyperactivity, Chorea, Abnormality of extrapyramidal motor functio... ORPHA:382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Retinal dysplasia OMIM:615041
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... ORPHA:139431
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Seizure, Bilateral tonic-clonic seizure, Inflexible adheren... OMIM:608636
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Agitation, Hypsarrhythmia, Hyperactivity, Seizure, Bilateral tonic-clonic seizur... OMIM:619970
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus, Motor stere... OMIM:617171
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Landau-Kleffner Syndrome
Hyperactivity, Focal motor seizure, Impulsivity, Gait ataxia, Atypical absence seizure, Aggressiv... ORPHA:98818
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Continuous Spikes And Waves During Sleep
Focal-onset seizure, Focal motor seizure, Atypical absence seizure, Atonic seizure, Clumsiness, E... ORPHA:725
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Hyperactivity, Infantile spasms, Impulsivity, Bilateral tonic-clonic seizure, Aty... OMIM:617113
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Bilateral tonic-clonic seizure, Restlessness, Clumsiness, EEG abnormality, Fo... OMIM:610003
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Hyperglycemia, Optic disc pallor OMIM:618970
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, EEG w... ORPHA:101071
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Hypsarrhythmia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizur... OMIM:619964
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Enhancement of the C-reflex, EEG with irregular generalized spike ... OMIM:601068
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus,... OMIM:616187
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Frequent falls, Action myoclonus, Gait ataxia, Bilateral tonic-clo... OMIM:616540
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Athetosis... OMIM:618141
Developmental And Epileptic Encephalopathy 59
Inability to walk, Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizur... OMIM:617904
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Babinski sign, Lower limb spasticity, Cerebellar vermis atrophy, Spasticity, Cerebel... OMIM:614322
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure, Attention deficit hyper... OMIM:619639
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Developmental Delay With Or Without Epilepsy
Spastic gait, Generalized non-motor (absence) seizure, Focal-onset seizure, EEG with polyspike wa... OMIM:620540
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Inability to walk, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure... OMIM:615006
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic se... OMIM:616346
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Dysplastic corpus callosum, Inability to walk, Spasticity, Seizure, Bilateral tonic-clonic seizur... OMIM:620317
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Hyperactivity, Cerebellar vermis hypoplasia, Tr... OMIM:618090
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Hypsarrhythmia, Incoordination, Seizure, Bilateral toni... OMIM:616409
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Focal-onset seizure, Hydrocephalus, Infantile spasms, Bilateral tonic-clonic seizure,... OMIM:619301
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Cerebellar atrophy, Refractory status epilepticus, Bilateral tonic-clonic se... OMIM:619605
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Abnormal c... OMIM:162350
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Paroxysmal dyskinesia, Focal-onset seizure, Falls, Chorea, Seizure, Inappropriate laughter, Ataxi... OMIM:619150
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Seizure, Tremor, Bilateral tonic-... OMIM:615127
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Focal-onset seizure, Enhancement of the C-reflex, Tremor, Bilateral tonic-clo... OMIM:613608
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Generalized tonic seizure, Falls, Hyperactivi... ORPHA:2382
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Cerebellar atrophy, Bilateral tonic-clonic seizure, Ga... OMIM:617862
Lissencephaly 3
Cerebellar vermis hypoplasia, Seizure, Bilateral tonic-clonic seizure, Ataxia, Agenesis of corpus... OMIM:611603
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Action myoclonus, Bilat... OMIM:616230
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Stereotypical hand wringing, Bi... OMIM:616056
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Focal-onset seizure, Hydrocephalus, Infantile spasms, Bilateral tonic-clonic seizure,... OMIM:619302
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Spasticity, Seizure, Impulsivity, Gait ataxia, Rigidity, Dysphagia, Clumsiness, St... OMIM:620448
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Hypertonia, Focal-onset seiz... ORPHA:306
Huntington Disease-Like 1
Bradykinesia, Jerky head movements, Chorea, Incoordination, Poor fine motor coordination, Seizure... ORPHA:157941
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Ascit... OMIM:615710
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with irregular genera... ORPHA:86909
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:617709
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Jerky head movements, Babinski sign, Hypertonia, Difficulty walking, Impaired propr... ORPHA:251282
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:618856
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:603204
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, H... OMIM:271980
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinem... ORPHA:99886
Generalized Epilepsy With Febrile Seizures-Plus
Obsessive-compulsive trait, Bradykinesia, Generalized non-motor (absence) seizure, Focal-onset se... ORPHA:36387
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, EEG with focal spikes, Seizure, Cerebellar... ORPHA:488635
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Hyperglycemia, Type II diabetes mellitus, Pigmentary retinopathy OMIM:520000
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Inability to walk, Chorea, Spasticity, Cerebellar atrophy, Compulsive behavi... OMIM:618917
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Focal aware seizure, Bilateral tonic-clonic seizure, Visually-indu... OMIM:614417
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Chorea, Truncal ataxia, Tremor,... OMIM:618587
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Interictal epileptiform activity, Focal aware seizure, G... ORPHA:101046
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Hyperkinetic movements, Focal-onset sei... OMIM:619317
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Pyknoachondrogenesis
Stillbirth OMIM:265880
New-Onset Refractory Status Epilepticus
Status epilepticus without prominent motor symptoms, EEG with spike-wave complexes, Seizure preci... ORPHA:363558
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myocloni... OMIM:617389
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Interictal epilep... OMIM:619157
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Myoclonic seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal... OMIM:617643
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Motor ste... OMIM:616341
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Hydrocephalus, Bilateral tonic-clonic seizure, Status epilepticus,... OMIM:266100
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typi... ORPHA:208447
Hyperprolinemia, Type I
Hyperactivity, Seizure, Status epilepticus, Ataxia, Motor stereotypy, EEG abnormality, Aggressive... OMIM:239500
Unilateral Focal Polymicrogyria
Simple febrile seizure, EEG with parietal focal spikes, Spastic hemiparesis, Poor fine motor coor... ORPHA:268947
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Seizure, Cerebellar dysplasia, Cerebellar hypoplasia, ... OMIM:604213
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Inability to walk, Apraxia, Spasticity, Tremor, Cerebell... OMIM:617810
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Cerebellar edema, Status... OMIM:618924
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Hypsarrhythmia, Spasticity, Bilateral tonic-clonic seizure,... OMIM:613722
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Seizure, Tremor... OMIM:615362
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Seizure, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder OMIM:618709
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Inability to walk, Hyperactivity, Spasticity, Seizure, Generalized-onset seizure, ... OMIM:616657
Foxg1 Syndrome
Difficulty walking, Hyperkinetic movements, Inability to walk, Focal-onset seizure, Spasticity, I... ORPHA:561854
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, EEG with spike-wave complexes, ... OMIM:607682
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Hepatic steatosis, Ketonuria, Ele... OMIM:605911
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Attention deficit hyperact... OMIM:619191
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Pancreatic hypoplasia, Dehydration, Abnormality of the upper urinary t... ORPHA:99885
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Agitation, Focal-onset seizure, Inability to walk, Hypsarrhythmia, Cerebellar atroph... OMIM:617166
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic status epilepticus, Truncal ataxia, Cerebellar atrophy, ... OMIM:611726
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, EEG with spike-wave complexes, Myocl... OMIM:614018
Developmental And Epileptic Encephalopathy 58
Inability to walk, Hypsarrhythmia, Seizure, Motor stereotypy, Status epilepticus, Spastic diplegia OMIM:617830
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Hypsarrhythmia, Infantile spasms... ORPHA:98820
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Hepatomegaly, Fasting hypoglycemia, Impaired gluconeogenesis, Hypoglycemia, Hepa... OMIM:261680
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, EEG with sp... OMIM:614558
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensor... OMIM:615400
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Hyperactivity, Cerebellar atrophy, Myoclonic seizure, Atonic seizure, Ataxia... ORPHA:168491
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300495
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with generalized poly... OMIM:615369
Mody
Abnormality of the kidney, Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancre... ORPHA:552
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, Glycosuria, Postprandial hypergl... ORPHA:2089
Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic aciduria, Dehydration, Gastroesophageal reflux, Ketonuria OMIM:251120
Episodic Ataxia, Type 5
Typical absence seizure, EEG with spike-wave complexes, Truncal ataxia, Episodic ataxia, Bilatera... OMIM:613855
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Hypertonia, Seizure, Tremor, Generalized-onset seizure, Hemiparesis, ... OMIM:619737
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Dehydration, Villous atrophy OMIM:251850
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, High palate, Renal hypoplasia, Oligohydramnios, Ketonuria OMIM:619053
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Hypsarrhythmia, Chorea, Spasticity, Seizure, Infantile spasms, Bilateral tonic-c... OMIM:616139
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal... OMIM:613721
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, EEG with polyspike wave c... OMIM:254800
Lissencephaly 10
Generalized non-motor (absence) seizure, Torticollis, Generalized-onset seizure, Bilateral tonic-... OMIM:618873
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Aggressive behavior, Seizure, Spasticity, Bilateral tonic-clonic ... ORPHA:208441
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Seizure, Cerebellar atrophy, Frequent falls, Bilat... OMIM:301020
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Cerebellar atrophy, Cogwheel rigidity, Gait disturban... OMIM:616981
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Seizure, Cerebellar atrophy, Gait distur... OMIM:300423
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Hepatomegaly, Increased level of hippuric acid in urine, Organic aciduria, Deh... OMIM:246450
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... OMIM:612691
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... OMIM:263200
Glycine Encephalopathy 1
Hyperactivity, Seizure, Myoclonus, Impulsivity, Restlessness, Agenesis of corpus callosum, Aggres... OMIM:605899
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, 3-hydroxyisovaleric aciduria, Hypoglycemia, Elevated urinary 3-methylcro... OMIM:210200
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Hyperactivity, Seizure, Generalized-onset seizure, Spastic tetraparesis, Impulsivity,... OMIM:604317
Progressive Myoclonic Epilepsy Type 3
Focal EEG discharges with secondary generalization, Progressive cerebellar ataxia, Focal myocloni... ORPHA:263516
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Cerebellar hypoplasia, Inability to walk, Broad-based gait, Poor... OMIM:617695
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Hyperactivity, Spasticity, Bilateral tonic-clonic seizure, Gait ataxia, ... OMIM:620145
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, EEG with generalized polyspikes, Bilateral tonic-clonic ... OMIM:254770
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Hyperkinetic movements, Inability to walk, Seizure, Stereotypical hand wringing,... OMIM:618497
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Generalized myoclonic seizure, Chiari type I malformation, Myoclonic absence seizur... OMIM:617836
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:617106
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, EEG with focal sharp waves, Seizure, Bilateral tonic-clonic seizure with foc... ORPHA:163721
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Jerky head movements, Limb apraxia, Apraxia, Progressive extrapyramidal muscular ri... ORPHA:240103
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Cerebellar atrophy, Seizure, Ataxia OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Spasticity, Seizure, Involuntary movements, Motor stereotypy, Self-injurious b... OMIM:617820
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Hypsarrhythmia, Spasticity, Infantile spasms, Bilateral tonic-clonic seizure, ... OMIM:619701
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... ORPHA:139426
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Spasticity, Athetosis, Infantile spasms, Cerebellar atrophy, Bila... OMIM:617493
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked potentials, M... OMIM:608105
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Fasciculations, Abnormality of extrapyramidal motor... ORPHA:275864
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Spastic dysarthria, Cerebellar hypoplasia, Oculomotor apraxia, Spa... ORPHA:313772
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Lower limb spasticity, Hy... ORPHA:485350
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica OMIM:617270
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral tonic-clonic seizure... OMIM:204300
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hydrocephalus, Hyperactivity, Seizure, Tremor, Spastic tetraparesis, Motor ster... OMIM:619470
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Difficulty walking, Focal-onset seizure, Inability to walk, Seizur... ORPHA:330050
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Colpocepha... ORPHA:250972
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, A... OMIM:618093
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Seizure, Unsteady gait, Motor stereotypy, Self-mutilation OMIM:614063
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Hyperactivity, Seizure, Generalized-onset seiz... OMIM:619827
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal-onset seizure, Hyperactivity, Focal motor seizure, EEG with f... ORPHA:1929
Developmental And Epileptic Encephalopathy 56
Obsessive-compulsive trait, Generalized non-motor (absence) seizure, EEG with polyspike wave comp... OMIM:617665
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Seizure ORPHA:436151
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Jaundice, Elevated urine acetoacetic acid level, Lacticaciduria, Elevated urine suberi... OMIM:615751
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Ketonuria OMIM:618857
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Inability to walk, Chorea, Stereotypical hand wringing, Convulsive status ep... OMIM:618760
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Generalized aminoaciduria, Hypercal... OMIM:227810
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure, Agenesis of corpus callosum OMIM:620200
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Hypsarrhythmia, Spasticity, Focal motor seizure, Seizure, Bilateral tonic-clonic... OMIM:617711
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, EEG with focal spikes, Episodic ataxia, Bilateral tonic-clonic seizure, Tonic s... ORPHA:140927
Primary Dystonia, Dyt13 Type
Jerky head movements, Torticollis, Involuntary movements, Action tremor, Motor stereotypy, Postur... ORPHA:98807
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Hypsarrhythmia, Spasticity, Seizure, Bilateral tonic-clonic seizure, Myoclon... OMIM:226750
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia, Renal tubular acidosis, Hepatic st... OMIM:255120
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atr... OMIM:614487
Developmental And Epileptic Encephalopathy 107
Seizure, Clonic seizure, Tonic seizure, Motor stereotypy OMIM:620033
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dicarboxylic aciduria, Dehydration ORPHA:79159
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus OMIM:608600
Beta-Ketothiolase Deficiency
Hepatomegaly, Dehydration, Hyperglycemia, Edema, Hypoglycemia, Ketonuria ORPHA:134
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Seizure, Generalized-onset sei... OMIM:617976
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Involuntary movements, Myoclonic seiz... OMIM:615716
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dehydration, Dysphagia, Hypoglycemia, Cryptorchidism OMIM:618958
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Spasticity, Seizure, Bilateral tonic-clonic seizure, ... OMIM:617350
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic absence s... OMIM:619000
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Dehydration, Hypoglycemia, Methylmalonic aciduria, Ketonuria OMIM:251110
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Hepatomegaly, Acute pancreatitis, Dehydration, Nonketotic hypoglycemia, 3-Methylglutari... ORPHA:20
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Self-injurious behavior, Cerebellar atrophy, Motor stereotypy OMIM:619690
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Agitation, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Seizure, Cere... OMIM:617435
Microphthalmia-Brain Atrophy Syndrome
Focal hyperkinetic seizure, Generalized myoclonic seizure, Tongue thrusting, Cerebellar vermis at... ORPHA:77299
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Neonatal hypoglycemia, Hyperactivity, Chorea, Recurrent ... OMIM:617600
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Seizure, Cerebellar atrophy, Bilatera... ORPHA:529665
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:616645
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Seizure, Motor stereotypy, Spastic tetraplegia, Self-injurious behavior, Clonic seizure OMIM:615282
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Dystonia 22, Juvenile-Onset
Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atrophy, Bilateral tonic-cloni... OMIM:620453
Centralopathic Epilepsy
Nocturnal seizures, EEG with centrotemporal focal spike waves, Focal-onset seizure, Bilateral ton... OMIM:117100
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Hepatomegaly, Elevated urine 2-methylcitric acid le... OMIM:251100
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hypoglycemia, Dehydration, Hyperglycemia, Ketonuria OMIM:615453
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:309530
Fragile X Syndrome
Hyperactivity, Seizure, Recurrent hand flapping, Abnormal head movements, Self-biting OMIM:300624
Glutaric Acidemia I
Glutaric aciduria, Hypoglycemia, Hepatomegaly, Ketonuria OMIM:231670
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Dehydration ORPHA:28
Huntington Disease-Like 3
Broad-based gait, Abnormality of extrapyramidal motor function, Chorea, Extrapyramidal muscular r... ORPHA:157946
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG abnormality OMIM:612621
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Enteric Anendocrinosis
Cholestatic liver disease, Type I diabetes mellitus, Dehydration, Portal hypertension ORPHA:83620
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Hyperkinetic movements, Inability to walk, Chorea, Spasticity, Seizure, Cerebell... OMIM:614254
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Inability to walk, Hypsarrhythmia, Infantile spasms, Spastic tetraparesis, C... OMIM:618012
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Attention deficit hy... OMIM:617935
Childhood Absence Epilepsy
Jerky head movements, Typical absence seizure, Myoclonic absence seizure, Limb myoclonus, Bilater... ORPHA:64280
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Chorea, Generalized-onset seizure... ORPHA:79137
Rolandic Epilepsy
Focal-onset seizure, EEG with irregular generalized spike and wave complexes, Dysesthesia, Bilate... ORPHA:1945
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Intention... OMIM:619725
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gliosis, Hyperglycemia OMIM:604484
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Difficulty walking, Myoclonic status epilepticus... ORPHA:2590
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Hypertonia, Focal-onset seizure, EEG with multifocal slow activity, Stereotypica... ORPHA:289266
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizur... OMIM:618010
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Hyperactivity, Tetraplegia, Seizure, Agenesis of corpus callosum OMIM:274270
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Dehydration, Splenomegaly, Renal insufficiency ORPHA:79312
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Dicarboxylic aciduria, Ethylmalonic aciduria, Increased urine alpha-ketoglutarate concentration, ... OMIM:619355
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 23
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Hypoplasia of th... OMIM:615859
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Bilateral tonic-clonic seizure OMIM:104290
Hartnup Disorder
Hypertonia, Hyperactivity, Seizure, Episodic ataxia, Attention deficit hyperactivity disorder, Ge... OMIM:234500
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Facial-lingual fasciculations, Hydrocephalus, Hyperactivity, Spastici... OMIM:617281
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Cerebellar ... OMIM:619028
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Lacticaciduria, Neonatal death, Ketonuria, Hepatomegaly OMIM:619167
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Type II diabetes mellitus, Diffuse ce... ORPHA:247815
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Spasticity, Tremor, Seizure, Motor stereotypy, Self-injurious b... OMIM:618718
Alpha-Methylacetoacetic Aciduria
Dehydration, Elevated urinary 2-methyl-3-hydroxybutyric acid level OMIM:203750
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... OMIM:600669
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, Seizure, Infantile spasms, EEG with occipital epileptiform discharges, Bilateral ... OMIM:619428
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Abnormal respiratory motile cilium morphology, Recurrent upper respi... ORPHA:922
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Focal-onset seizure, Nocturnal seizures, Seizure, Spasticity, Infantile spasm... OMIM:617393
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Chorea, Seizure, Ce... ORPHA:248111
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Generalized-onset sei... ORPHA:1941
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Primary hypothyroidism, Cholestasis, Small intestinal dysmoti... ORPHA:95427
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ... ORPHA:93952
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Hypertonia, Inability to walk, Hypsarrhythmia, Focal emotional seizure with laug... ORPHA:293181
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Hepatomegaly, Myoglobinuria, Hypothyroidism, Macroglossia, Ketonuria OMIM:251900
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Cerebellar vermis hypoplasia, S... OMIM:618067
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Methylmalonic aciduria, Dehydration, Dicarboxylic aciduria ORPHA:289504
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar cyst, Inability to walk, Hypsarrhythmia, EEG with focal spikes, EEG with focal sharp w... ORPHA:79243
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Hyperglycemia, Ret... OMIM:615986
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Appendicular spasticity, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:617082
Salt And Pepper Developmental Regression Syndrome
Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus... OMIM:609056
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Abnormal c... OMIM:204200
Peho-Like Syndrome
Hypsarrhythmia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Spasticity, Seizure, Cerebral palsy, Compulsive behaviors, Phonic tics, Unsteady g... OMIM:301107
Cdkl5-Deficiency Disorder
Difficulty walking, Focal-onset seizure, Generalized tonic seizure, Impaired pain sensation, Infa... ORPHA:505652
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Inability to walk, Tongue thrusting, Limb hypertonia, Recurrent hand flapping, C... OMIM:619580
Atypical Rett Syndrome
Gait ataxia, EEG abnormality, Bruxism, Pill-rolling tremor, Agitation, Tongue thrusting, Seizure,... ORPHA:3095
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Retinal dystrophy, Elongated superior cer... ORPHA:370022
Congenital Short Bowel Syndrome
Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Dehydration, Intestinal ... OMIM:615237
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Poretti-Boltshauser Syndrome
Retinal thinning, Cerebellar cyst, Retinal dystrophy, Cerebellar vermis hypoplasia, Retinal atrop... OMIM:615960
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Normal interictal EEG, Bilateral tonic-clonic seizure, Bilatera... OMIM:607745
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Spasticity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic... OMIM:610042
Combined Malonic And Methylmalonic Aciduria
Methylmalonic aciduria, Dehydration OMIM:614265
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Seizure, Hyperglycemia, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:175700
Propionic Acidemia
Hepatomegaly, Pancreatitis, Increased level of hippuric acid in urine, Hyperglycinuria, Dehydrati... OMIM:606054
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Babinski sign, Simple febrile seizure, Generalized myoclonic seizure,... ORPHA:2524
Aminoacylase 1 Deficiency
Hyperactivity, Seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure OMIM:609924
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Dehydration, Renal insufficiency ORPHA:27
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Gait disturbance, Bilateral tonic-clonic seizure, Spastic p... ORPHA:100988
Familial Renal Glucosuria
Recurrent urinary tract infections, Dehydration, Glycosuria, Nephropathy, Renal tubular dysfunction ORPHA:69076
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Decreased carnitine level ... OMIM:212140
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Bilateral tonic-clonic seizure, Hyp... OMIM:240900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Dehydration, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalo... OMIM:251000
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Focal-onset seizure, Aggressive behavior, Lower limb spasticity, Interi... ORPHA:163681
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Agitation, Hydrocephalus, Hyperactivity, Seizure, Bilate... OMIM:300558
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema, Parathyroid adenoma ORPHA:122
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Spasticity, Tremor, Seizure, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Bilateral Frontoparietal Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Gait imbalance, Bilateral tonic-clonic se... ORPHA:101070
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia, Torticollis ORPHA:71518
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
3-Methylglutaconic aciduria, Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, H... OMIM:620089
Severe Neonatal-Onset Encephalopathy With Microcephaly
EEG with focal slow activity, Seizure, Spasticity, Bilateral tonic-clonic seizure, Involuntary mo... ORPHA:209370
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of ... OMIM:620292
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Limb hypertonia, Hyperactivity, Chorea, Abnormality of extrapyramidal motor fu... ORPHA:500180
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:607681
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble... OMIM:607876
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Developmental And Epileptic Encephalopathy 41
Babinski sign, Epileptic spasm, Myoclonic status epilepticus, Inability to walk, Generalized toni... OMIM:617105
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Babinski sign, Tongue fasciculations, Seizure, Cerebella... OMIM:618170
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Bilateral tonic-clonic seizure, Spastic paraplegia, Abnor... ORPHA:53583
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare... ORPHA:726
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hypertonia, Focal-onset seizure, Ankle clonus, Hypsarrhythmia, Hyperactivity, Multifoc... OMIM:620423
Sulfite Oxidase Deficiency, Isolated
Agitation, Hypertonia, Bilateral tonic-clonic seizure, Ataxia, Cerebellar hypoplasia, Hemiplegia,... OMIM:272300
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with polyspike wave c... OMIM:611364
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin... OMIM:604367
Severe Canavan Disease
Babinski sign, Inability to walk, Oral-pharyngeal dysphagia, Decerebrate rigidity, Spasticity, Se... ORPHA:314911
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Bare Lymphocyte Syndrome, Type I
Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiectasis OMIM:604571
Chylous Ascites
Abnormal intestine morphology, Pancreatitis, Ascites, Lymphedema ORPHA:1160
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Hydrops fetalis, Hypercalciuria, Dehydration, Macronodular cirrhosis, ... OMIM:557000
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Generalized aminoaciduria... ORPHA:2088
Oxoglutarate Dehydrogenase Deficiency
Falls, Bilateral tonic-clonic seizure, Gait ataxia, Rigidity, Unsteady gait, Dysmetria OMIM:203740
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Seizure, Cerebellar atrophy, Poor motor coordination, Interictal EE... ORPHA:79264
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Interictal epileptiform activity, EEG with focal ... ORPHA:98784
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Long penis, Cholestasis, Ovarian cyst, Hyperglycemia, Hep... OMIM:246200
Lissencephaly Due To Tuba1A Mutation
Dysplastic corpus callosum, Focal-onset seizure, Cerebellar vermis hypoplasia, Spasticity, Infant... ORPHA:171680
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Spasticity, Tremor, Seizure, Ataxia, Aggressive behavior OMIM:300983
Cystinosis
Nephropathy, Dehydration, Portal hypertension, Hypothyroidism, Proteinuria, Type I diabetes melli... ORPHA:213
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Spastic diplegia OMIM:619065
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Neonatal death, Cerebellar atrophy, Bilateral tonic-clonic seizure OMIM:618237
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Seizure, Spasticity, Bilateral tonic-clonic seizure, Status epilepticus, EEG abnormality,... OMIM:613970
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology OMIM:215520
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Abnormal intestine morphology, Hypoglycemia, Renal t... OMIM:606528
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Myoclonus, Clonic s... OMIM:617290
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Athetosis, Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia OMIM:614559
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Spastic hemiparesis, Spasticity, Se... OMIM:619616
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis... OMIM:619377
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Hypertonia, Seizure, Stereotypical hand wringing, Bilate... OMIM:619854
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Inability to walk, Bilateral tonic-clonic seizure, Broad-based gait OMIM:618470
Developmental And Epileptic Encephalopathy 90
Babinski sign, Focal-onset seizure, Limb hypertonia, Hypsarrhythmia, Bilateral tonic-clonic seizu... OMIM:301058
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Hypertonia, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic seizure, M... OMIM:619877
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Autism, Susceptibility To, 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608049
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Seizure, Dilated fourth ventricle, Motor stereotypy, Lateral ventricle dilatation OMIM:613443
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Hypsarrhythmia, Tremor... OMIM:612164
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Chorea, Dandy-Walker malformation, Athetosis, Impulsivity, Bilateral tonic-c... OMIM:619435
D-2-Hydroxyglutaric Aciduria 1
Hypsarrhythmia, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclon... OMIM:600721
Pyruvate Carboxylase Deficiency
Anorexia, Abnormal temper tantrums, Tip-toe gait, Generalized clonic seizure, Seizure, Tremor, Re... ORPHA:3008
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Seizure, Tremor, Gait disturbance, Bilateral tonic-clonic seizure, Cerebe... ORPHA:457240
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Jaundice, Hemolytic-uremic syndrome, Hydrops fetalis, Glossitis, Dehydration, Hyp... ORPHA:79282
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
High palate, Aminoaciduria, Ketonuria OMIM:614520
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Ataxia, Incoordination ORPHA:79136
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Inability to walk, Generalized tonic seizure, Hypsarrhyt... ORPHA:411986
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Dehydration, Ascites, Central hypothyroidism, Hypothyroidism, Exocrine pa... ORPHA:1667
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Tongue thrusting, Broad-based gait, Bilateral tonic-clonic seizure with generaliz... ORPHA:98795
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Focal-onset seizure, Impaired tactile sensation, Bilateral tonic-clonic seizure with ... OMIM:619092
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Hyperglycemia, Increased circ... OMIM:615954
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Difficulty walking, Spastic dysarthria, Spasticity, Seizure, Waddling gait, Cerebe... ORPHA:280763
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Spasticity, Seizure, Agenesis of corpus callosum, Aggressive behavior OMIM:615286
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Jaundice, Renal tubular acidosis, Intrahepatic b... OMIM:208085
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Renal insufficiency, Aminoa... OMIM:619386
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Dysphagia, Gastrointestinal dysmotility, Hypoglycemia, Compensated hypothy... ORPHA:480864
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Hepatomegaly, Proximal tubulopathy, Dehydration, Type I diabetes mellitus OMIM:560000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Babinski sign, Myoclonus, Gait disturbance, Rigidity, Disinhibition, Moto... OMIM:600795
Baker-Gordon Syndrome
Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Involuntary movements, Ataxia... OMIM:618218
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Simple febrile seizure, Focal-onset seizure, Generalized... ORPHA:1942
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Protein-losing enteropathy, Hematochezia, Dehydration ORPHA:103910
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Shukla-Vernon Syndrome
Broad-based gait, Seizure, Cerebellar atrophy, Impulsivity, Motor stereotypy, Attention deficit h... OMIM:301029
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Rectal prolapse, Pancreatitis, Acute colitis, Anuria, Intestinal perforation... ORPHA:90038
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Rectal prolapse, Hypercalciuria, Meconium ile... OMIM:219700
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Spasticity,... OMIM:616211
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Focal motor seizure, Seizure, Bilateral... OMIM:619911
Developmental And Epileptic Encephalopathy 106
Limb hypertonia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic se... OMIM:620028
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Normal interictal EEG, Generalized-onset seizure, Bilateral tonic-clonic sei... OMIM:601764
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Diabetes mellitus, Bilateral tonic-clonic seizure, Lateral ventricle dilatation OMIM:619278
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:615637
Duodenal Atresia
Annular pancreas, Polyhydramnios, Abnormality of the pancreas, Duodenal atresia ORPHA:1203
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic gait, Bilateral tonic-clonic seizure, Gait ataxia, Spastic paraplegia, Dysmetria OMIM:615031
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Oral-pharyngeal dysphagia, Myoglobinuria, Hypothyroidism, Hypoglycemia, Ketonuria OMIM:616878
Intellectual Developmental Disorder, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, Seizure, Dilate... OMIM:617751
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Difficulty walking, Focal myoclonic seizure, Lower limb spasticity... ORPHA:464282
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Aggressive behavior, Spasticity, Gait disturbance, Bilateral tonic-clonic seizure, Hemiparesis, R... ORPHA:199354
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Seizure, Spastic ataxia, Motor stereotypy OMIM:618906
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Seizure, Spasticity, Infantile spasms, Cerebellar hemisphere hypopl... OMIM:618325
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Scorpion Envenomation
Acute kidney injury, Pulmonary edema, Acute pancreatitis, Glycosuria, Hyperhidrosis, Hyperglycemi... ORPHA:466677
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Postprandial... ORPHA:2298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar d... OMIM:615181
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Hypoglycemia, Splenomegaly ORPHA:664
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Focal EEG discharges with secondary generalization, Abnormal fear-induced behavior, Low... ORPHA:3077
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Hypoglycemia, Organic aciduria, Ketonuria OMIM:210210
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Speech apraxia, Inflexible adherence to routines, Motor stereotypy, Attenti... OMIM:613670
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Intestinal hypoplasia, Pancreatic h... OMIM:601346
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Chronic Hiccup
Dehydration ORPHA:396
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Babinski sign, Hypertonia, Cerebellar vermis hypoplasia,... OMIM:615802
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Inability to walk, Focal emotional seizure with laughing, Bilatera... OMIM:619881
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Jaundice, Elevated urinary xanthurenic acid level OMIM:236800
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Adrenal Hypoplasia, Congenital
Renal salt wasting, Dehydration, Primary adrenal insufficiency, Decreased circulating cortisol le... OMIM:300200
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Inability to walk, Bilateral tonic-clonic seizure, Abnormal ... ORPHA:457205
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Dilated fourth ventricle, T... OMIM:610688
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypertonia, Spasticity, Seizure, Infantile spasms, EEG with focal epileptiform discharges, Interi... ORPHA:544503
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Absent central microtubular pair morphology of respiratory motile cilia, Rec... OMIM:620032
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Lower limb spasticity, Hy... OMIM:300912
Pearson Syndrome
Steatorrhea, Splenomegaly, Dysphagia, Pancreatic fibrosis, Hepatic steatosis, Lacticaciduria, Adr... ORPHA:699
D-Glyceric Aciduria
Tongue thrusting, Appendicular spasticity, Hypsarrhythmia, Focal clonic seizure, Spasticity, Seiz... OMIM:220120
Brain Small Vessel Disease 2
Spastic tetraplegia, Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Dehydration, Nephrocalcinosis OMIM:143880
Bronchopulmonary Dysplasia
Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis ORPHA:70589
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Xq25 Microduplication Syndrome
Hyperactivity, Cerebellar hypoplasia, Seizure ORPHA:521258
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Christianson Syndrome
Truncal ataxia, Generalized-onset seizure, Cerebellar atrophy, Gait ataxia, Inappropriate laughte... ORPHA:85278
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraparesis, Focal-onset seizure, Falls, Cerebellar vermis atrophy, Upper mot... ORPHA:329308
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Seizure, Stereotypical hand wringing, Gait disturbance, Febrile se... OMIM:614104
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Microvillus Inclusion Disease
Dehydration, Abnormal small intestinal villus morphology, Nephrocalcinosis, Abnormal renal physio... ORPHA:2290
Vipoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Increased circulating gonadotro... ORPHA:97282
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria ORPHA:882
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Seizure, Recurrent hand flapping, Febrile seizure (within the age range of 3 month... OMIM:615516
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Cryptorchidism, Dehydration OMIM:214150
Early Infantile Epileptic Encephalopathy
Focal-onset seizure, Hyperactivity, Cerebellar atrophy, Atonic seizure, Myoclonus, EEG abnormalit... ORPHA:1934
Pancreas, Annular
High intestinal obstruction, Annular pancreas, Duodenal stenosis OMIM:167750
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Annular Pancreas
High intestinal obstruction, Annular pancreas, Duodenal stenosis ORPHA:675
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Organic aciduria ORPHA:35
Migraine, Familial Hemiplegic, 2
Apraxia, Focal motor seizure, Tremor, Cerebellar atrophy, Episodic ataxia, Bilateral tonic-clonic... OMIM:602481
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Seizure, Polyphagia, Inappropriate laughter, Ataxia, EEG abnorma... ORPHA:411515
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure, Polyphagia, Motor stereotypy OMIM:613886
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Hyperglycemia, Hypoglycemia, Diabetes mellitus OMIM:609069
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Panacinar emphysema OMIM:613490
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, EEG with occipital epileptiform discha... ORPHA:254881
Shigellosis
Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Acute colitis, Splenic abscess, Intes... ORPHA:810
4Q21 Microdeletion Syndrome
Cerebellar hypoplasia, Seizure, Tremor, Motor stereotypy, Agenesis of corpus callosum, Self-injur... ORPHA:238750
Symptomatic Form Of Hfe-Related Hemochromatosis