banner
Genes Phenotypes Help, News, Blog

Gene: Neurod1 MGI:1339708

Log in to follow
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:
BETA2,  Nd1,  bHLHa3,  Neurod

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853

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
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Autism, Susceptibility To, X-Linked 4
Impulsivity, Attention deficit hyperactivity disorder, Motor tics OMIM:300830
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Cerebellar dysplasia OMIM:615041
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Guanidinoacetate Methyltransferase Deficiency
Chorea, Hyperactivity, Seizure, Abnormal head movements, Abnormality of extrapyramidal motor func... ORPHA:382
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized sp... OMIM:601068
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation, Focal-onset seizure, Hemiparesis, Generalized myoclonic seizure, Fo... ORPHA:101071
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Seizure, Hypsarrhythmia, Clonic seizure, Agitation, Tonic seizure, Bilateral tonic... OMIM:619970
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Ce... OMIM:610003
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Ataxia, Bilateral ton... OMIM:616187
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Hyperactivity, Hypsarrhythmia, Ataxia, Bilateral tonic-clonic seizure, Atonic ... OMIM:617113
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic... OMIM:616540
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Tonic seizure, Bilateral t... OMIM:619964
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Ketonuria, Neonatal... ORPHA:79644
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Seizure, Spastic gait, Spastic d... ORPHA:251282
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Inability to walk, Hypsarrhythmia, Focal clonic seizure, Tonic seizure, Bilate... OMIM:615006
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Recurrent hand flapping, Gait dis... OMIM:618141
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Abnormal cerebellum morphology, Parkinsonism, Abnormality of extrapyr... OMIM:162350
Epilepsy, Familial Adult Myoclonic, 4
Seizure, EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral... OMIM:615127
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure with focal onset, EEG with centrotemporal focal spike waves, Seizu... OMIM:245570
Landau-Kleffner Syndrome
Generalized clonic seizure, Interictal EEG abnormality, EEG with temporal focal spikes, Focal imp... ORPHA:98818
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, ... OMIM:613608
Continuous Spikes And Waves During Sleep
EEG with centrotemporal focal spike waves, Typical absence seizure, Seizure, Focal motor seizure,... ORPHA:725
Lissencephaly 3
Generalized tonic seizure, Seizure, Spastic tetraplegia, Ataxia, Bilateral tonic-clonic seizure, ... OMIM:611603
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol... OMIM:615710
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Spastic tetraplegia, Cerebellar hypoplasia, Focal-onset seizure, Hypoplasia of... OMIM:619301
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Spastic tetraplegia, Cerebellar hypoplasia, Focal-onset seizure, Hydrocephalus... OMIM:619302
Epilepsy, Progressive Myoclonic, 8
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Bilateral tonic... OMIM:616230
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Generalized myoclonic seizure, Gait dist... OMIM:618090
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Status epilepticus, Agitation, Bilateral tonic-clonic seizure, Involuntary movem... OMIM:617171
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spast... OMIM:614322
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with burst suppression,... OMIM:619605
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Hypsarrhythmia, Type I diabet... OMIM:618856
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Recurrent hand flapping, Hand tremor, Bilateral tonic-clonic seizure, Dysphagia, Cer... OMIM:617862
Huntington Disease-Like 1
Poor fine motor coordination, Gait ataxia, Chorea, Seizure, Abnormal head movements, EEG abnormal... ORPHA:157941
Lennox-Gastaut Syndrome
Hyperactivity, Generalized tonic seizure, Falls, EEG abnormality, Focal-onset seizure, Myoclonus,... ORPHA:2382
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Tr... OMIM:618587
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia ORPHA:22
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Stereotypical hand wringing, Hypsarrhythmia, Bil... OMIM:616056
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Gait ataxia, Seizure, EEG abnormality, Generalized myoclonic seizure, Ataxia, ... OMIM:617831
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-i... OMIM:614417
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Pigmentary retinopathy OMIM:520000
New-Onset Refractory Status Epilepticus
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with frontal epileptiform... ORPHA:363558
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Gait imbalance, Seizure, Cerebellar hypoplasia, EEG with focal spikes, Abnormal late... ORPHA:488635
Pyknoachondrogenesis
Stillbirth OMIM:265880
Gilles De La Tourette Syndrome
Phonic tics, Motor tics, Attention deficit hyperactivity disorder OMIM:137580
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, EEG abnormality, Truncal ataxia, Bilateral tonic-clonic seizure, Unsteady gait OMIM:608636
Transient Neonatal Diabetes Mellitus
Abnormality of the urinary system, Transient neonatal diabetes mellitus, Hypothyroidism, Diabetic... ORPHA:99886
Developmental And Epileptic Encephalopathy 53
Myoclonic seizure, Seizure, Spastic tetraplegia, Hypsarrhythmia, Tonic seizure, Bilateral tonic-c... OMIM:617389
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, EEG abnor... OMIM:617643
Epilepsy, Pyridoxine-Dependent
EEG with burst suppression, Generalized myoclonic seizure, Hydrocephalus, Status epilepticus, Clo... OMIM:266100
Developmental And Epileptic Encephalopathy 59
Inability to walk, Hypsarrhythmia, Multifocal epileptiform discharges, Focal clonic seizure, Atax... OMIM:617904
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Emphysema OMIM:130700
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism OMIM:615493
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Seizure, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of the corp... OMIM:604213
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism ORPHA:356996
Episodic Ataxia, Type 9
Seizure, Status epilepticus, Clonic seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clon... OMIM:618924
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... OMIM:615362
Developmental And Epileptic Encephalopathy 12
Spasticity, Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, E... OMIM:613722
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Gait ataxia, Spasticity, EEG abnormality, Cerebellar hypoplasia, Inability to ... OMIM:617810
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Lower limb spasticity, ... OMIM:619639
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... ORPHA:101046
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... OMIM:300088
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Poor fine motor coordination, Gene... ORPHA:36387
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Impaired gluconeogenesis, Increased hepatic echogenicity, Ketonuria, Hepatic ste... OMIM:261680
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Interictal epileptiform activity, Bilatera... OMIM:615400
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:614018
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Truncal ataxia, Generalized m... OMIM:611726
Enteric Anendocrinosis
Malabsorption, Type I diabetes mellitus, Cholestatic liver disease, Dehydration, Portal hypertension ORPHA:83620
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... ORPHA:208447
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... OMIM:607208
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes OMIM:611364
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cell... ORPHA:99885
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Familial Focal Epilepsy With Variable Foci
Paresthesia, Focal-onset seizure, Deja vu aura, Focal aware seizure, Interictal EEG abnormality, ... ORPHA:98820
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Ketonuria, Glycosuria, Abnormality of the gastrointestinal tract, Postprand... ORPHA:2089
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Mul... OMIM:615369
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure, EEG abnormality ORPHA:436151
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Methylmalonyl-Coa Epimerase Deficiency
Gastroesophageal reflux, Methylmalonic aciduria, Ketonuria, Dehydration OMIM:251120
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Chorea, Spasticity, Seizure, Hypsarrhythmia, Myoclonus, Bilateral tonic-clonic... OMIM:616139
Combined Oxidative Phosphorylation Deficiency 54
Generalized-onset seizure, Seizure, Hemiparesis, Hypoesthesia, Tremor, Hypertonia, Hyperglycemia,... OMIM:619737
Developmental And Epileptic Encephalopathy 47
EEG abnormality, Inability to walk, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform ... OMIM:617166
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Hyperkinetic movements, Rigidity, Myoclonus, Choreoathetosis, Gait disturbanc... OMIM:616981
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... OMIM:613855
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Ketonuria, Oligohydramnios, Hepatomegaly, Renal hypoplasia OMIM:619053
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater... OMIM:613721
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Dehydration OMIM:251850
Mitochondrial Complex I Deficiency, Nuclear Type 12
Gait imbalance, Seizure, Generalized myoclonic seizure, Myoclonus, Choreoathetosis, Ataxia, Bilat... OMIM:301020
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Ataxia, Bilateral... OMIM:254800
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Generalized-onset seizure, Hyperactivity, Spasticity, Seizure, Inability to walk, Ankle clonus, S... OMIM:616657
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Seizure, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Imp... OMIM:300423
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, 3-hydroxyisovaleric aciduria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine l... OMIM:210200
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Seizure, Focal-onset ... OMIM:605021
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Hypsarrhythmia, Incoordination, Bilateral to... OMIM:616409
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Poor hand-eye coordination, Genera... ORPHA:86909
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts, Multiple small medullary renal cysts, Periport... OMIM:263200
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... ORPHA:552
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, EEG with generalized epileptiform discharges, Se... ORPHA:163721
Developmental And Epileptic Encephalopathy 42
Myoclonic seizure, EEG abnormality, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-c... OMIM:617106
Developmental And Epileptic Encephalopathy 54
Seizure, EEG abnormality, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic s... OMIM:617391
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Chorea, EEG with spike-wave complexes (>3.5 Hz), Inability to walk, Focal-onse... OMIM:619317
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... ORPHA:263516
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure,... OMIM:617836
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Myoclonus, Hand tremor, Bilateral tonic-clonic seizure, Focal hemifacial clo... OMIM:608105
Fraxe Intellectual Disability
Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Attention deficit hyperactivity dis... OMIM:619191
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Falls, Generalized myoclonic seizure, Bilate... ORPHA:139426
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Focal-onset seizure, Interictal epileptiform activity, Bilateral toni... OMIM:619157
Foxg1 Syndrome
Spasticity, Inability to walk, Stereotypical hand wringing, Focal-onset seizure, Myoclonus, Bruxi... ORPHA:561854
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Inability to walk, Hypsarrhythmia, Generalized myoclonic-atonic seizure, Status epile... OMIM:619701
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Seizure, EEG abnormality, Hyperkinetic movements, Generalized myoclonic seizure, S... OMIM:271980
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... OMIM:204300
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Inability to walk, Stereotypical hand wringing, Myoclonus, Choreoathe... OMIM:618497
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, EEG abnormality OMIM:614115
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Gait ataxia, Hyperactivity, Spasticity, Typical absence seizure, Crouch gait, ... OMIM:620145
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, EEG abnormality, Cerebellar hypoplasia, Dysdiadochokinesis, Oculomotor apraxia, Gener... ORPHA:313772
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, EEG with central focal spikes, Poor fine motor c... ORPHA:268947
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, EEG with series of focal spikes, Inability to walk, Focal-onset seizure, Atoni... ORPHA:168491
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Ketonuria, Elevated urinary 3-hydroxybutyric acid, Jaundic... OMIM:615751
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspik... OMIM:619913
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... OMIM:618396
Isolated Focal Cortical Dysplasia
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... ORPHA:65683
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Agenesis o... ORPHA:250972
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Ketonuria OMIM:618857
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi... ORPHA:240103
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Seizure, Inability to walk, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticu... ORPHA:330050
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... OMIM:254770
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Spasticity, Chorea, I... OMIM:618917
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking OMIM:309548
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... OMIM:616461
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Hyperactivity, Seizure, Ataxia OMIM:613402
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Spasticity, Seizure, Cerebellar hypoplasia, Focal-onset seizure, Hypsarrhythmi... OMIM:226750
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Inability to walk, Focal-onset seizure, Interictal epileptiform act... ORPHA:1929
Developmental And Epileptic Encephalopathy 13
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:614558
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Spasticity, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptif... OMIM:617711
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Cln5 Disease
Inability to walk, Focal-onset seizure, Truncal ataxia, Unsteady gait, EEG with generalized slow ... ORPHA:228360
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Focal impaired a... OMIM:607745
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Focal motor seizure, EEG abnormality, EEG with polyspike wave complex... OMIM:617665
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Dysmetr... OMIM:618093
Glycine Encephalopathy
Hyperactivity, Seizure, Myoclonus, Impulsivity, Restlessness, Agenesis of corpus callosum OMIM:605899
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly OMIM:608600
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Ketotic hypoglycemia, Dehydration ORPHA:79159
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements OMIM:618425
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Focal-onset seizure, Multifocal epileptiform discharges, Status epilepticus, Fo... OMIM:619606
Beta-Ketothiolase Deficiency
Ketonuria, Edema, Hypoglycemia, Hepatomegaly, Dehydration, Hyperglycemia ORPHA:134
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Spasticity, Hyperkinetic movements, Involuntary movements, Multifocal epileptiform discha... OMIM:617493
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Generalized myoclonic seizure... OMIM:614487
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Hyperactivity, Seizure, EEG with focal spikes, Myoclonus, Focal tonic seizure, Upper limb... ORPHA:485350
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Seizure, EEG abnormality, Falls, Focal-onset seizure, Poor coordination, Focal motor stat... OMIM:619150
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Cryptorchidism, Hepatomegaly, Dysphagia, Dehydration OMIM:618958
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Nonketotic hypoglycemia, Jaundice, Edema, Acute pancreatitis, Recurrent hypoglycemia, ... ORPHA:20
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Generalized-onset seizure, Generalized tonic seizure, Seizure, EEG with genera... OMIM:617976
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Hyperactivity, Seizure, EEG abnormality, Hemiparesis, Spastic tetrapar... OMIM:604317
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure OMIM:616341
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Abnormal pyramidal sig... OMIM:617350
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young OMIM:609812
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Abnormal pyramidal sign, Seizure, Inability to w... OMIM:616645
Primary Dystonia, Dyt13 Type
Postural tremor, Torticollis, Abnormal repetitive mannerisms, Action tremor, Involuntary movement... ORPHA:98807
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure, EEG wit... OMIM:117100
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Generalized myoclonic se... ORPHA:352582
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired aware... ORPHA:208441
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Ketonuria, Hypoglycemia, Dehydration OMIM:615453
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-cloni... ORPHA:79137
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Myoclonic seizure, Seizure, Lateral ventricle dilatation, Inability to walk, Bilateral tonic-clon... OMIM:615716
Cystinosis
Aminoaciduria, Hypothyroidism, Renal insufficiency, Malabsorption, Type I diabetes mellitus, Neph... ORPHA:213
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Cerebellar vermis atrophy, Spasticity, Lateral ventricle dilatation, G... ORPHA:77299
Glutaric Acidemia I
Hypoglycemia, Glutaric aciduria, Hepatomegaly, Ketonuria OMIM:231670
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Gait ataxia, Spasticity, Seizure, EEG abnormality, Cerebellar hypoplasia, Oculomotor apraxia, Sta... ORPHA:529665
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Huntington Disease-Like 3
Chorea, Spasticity, Abnormal pyramidal sign, Extrapyramidal dyskinesia, Seizure, Abnormal head mo... ORPHA:157946
Secondary Short Bowel Syndrome
Central hypothyroidism, Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorpti... ORPHA:95427
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... OMIM:619000
Dibasic Amino Aciduria I
Hyperlysinuria, Malabsorption, Ornithinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Episodic quadriplegia OMIM:104290
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, EEG abnormality, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gliosis, Degeneration of anterior horn cells OMIM:604484
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hepatomegaly, Dehydration ORPHA:28
Essential Fructosuria
Hyperglycemia ORPHA:2056
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, EEG abnormality, Stereotypical hand wringing, Focal-onset seizure, Inability to walk, Con... OMIM:618760
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Gait disturbance, Upper motor neuron dysfunction, A... ORPHA:275864
Developmental And Epileptic Encephalopathy 23
Hypsarrhythmia, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons,... OMIM:615859
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Hepatomegaly, Dehydration OMIM:251110
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Cerebral edema, Ketonuria, Increased urine alpha-ketoglutarate co... OMIM:619355
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Hypoglycemia, Hepatomegaly, Dehydra... OMIM:251000
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... OMIM:600669
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Neonatal death, Hepatomegaly, Lacticaciduria OMIM:619167
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Seizure, Abnormal head movements OMIM:300624
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Lateral ventricle dilatation, Inability to walk, EEG with focal spikes, Cerebellar cyst,... ORPHA:79243
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Dehydration, Renal insufficiency, Pancreatitis ORPHA:79312
Glucose/Galactose Malabsorption
Glycosuria, Abnormal oral glucose tolerance, Malabsorption, Hypertonic dehydration OMIM:606824
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Abnormal cerebellum morphology, Parkinsonism, Abnormality of extrapyramidal motor functi... OMIM:204200
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Hydrocephalus, Seizure, Agenesis of corpus callosum OMIM:175700
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Chorea, Hyperactivity, Cerebral palsy, Myoclonus, Recurrent hand flapping, Neo... OMIM:617600
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Abnormal head movements, Truncal ataxia, Type II diabetes mellitus, Ocul... ORPHA:247815
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism, 3-Methylglutaconic aciduria, Ketonuria, Macroglossia, Hepatomegaly, Myoglobinuria OMIM:251900
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Hepatomegaly, Dehydration OMIM:251100
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Salt And Pepper Developmental Regression Syndrome
Myoclonus, Choreoathetosis, Status epilepticus, Multifocal epileptiform discharges, Bilateral ton... OMIM:609056
Hartnup Disorder
Hyperactivity, Generalized tonic seizure, Seizure, Episodic ataxia, Attention deficit hyperactivi... OMIM:234500
Epilepsy, Early-Onset, Vitamin B6-Dependent
Myoclonic seizure, EEG with burst suppression, Myoclonus, Clonic seizure, Tonic seizure, Bilatera... OMIM:617290
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:618357
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... ORPHA:1941
Epilepsy, Familial Focal, With Variable Foci 4
Focal-onset seizure, Clonic seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Foca... OMIM:617935
Peho-Like Syndrome
Hypsarrhythmia, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure, Cerebellar atrophy OMIM:617507
Hyperprolinemia, Type I
Hyperactivity, Seizure, EEG abnormality, Status epilepticus, Ataxia OMIM:239500
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Seizure, Hypertonia, Tetraplegia, Agenesis of corpus callosum OMIM:274270
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Babinski sign, Spastic paraplegia, Bilateral tonic-clonic seiz... ORPHA:100988
Epilepsy, Familial Temporal Lobe, 3
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure OMIM:611630
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Combined Malonic And Methylmalonic Acidemia
Methylmalonic aciduria, Hypoglycemia, Dicarboxylic aciduria, Dehydration ORPHA:289504
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Aton... ORPHA:93952
Cerebral Creatine Deficiency Syndrome 2
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Myoclonus, Para... OMIM:612736
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, Stereot... ORPHA:289266
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... OMIM:612691
Congenital Disorder Of Glycosylation, Type Iaa
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus, Appendicular spasticity OMIM:617082
Juvenile Huntington Disease
Gait ataxia, Chorea, Hyperactivity, Cerebellar vermis atrophy, Seizure, Rigidity, Myoclonus, Atax... ORPHA:248111
Combined Malonic And Methylmalonic Aciduria
Methylmalonic aciduria, Dehydration OMIM:614265
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Steatorrhea, Intestinal ... OMIM:615237
Propionic Acidemia
Hypoglycemia, Increased level of hippuric acid in urine, Hepatomegaly, Dehydration, Pancreatitis,... OMIM:606054
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Villous atrophy, Malabsorption, Type I diabetes mellitus, Steatorrhea, Pancreati... OMIM:557000
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
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized... OMIM:607876
Benign Paroxysmal Torticollis Of Infancy
Ataxia, Torticollis, Abnormal head movements ORPHA:71518
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, Paraparesis,... ORPHA:726
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Retinal a... ORPHA:370022
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Bilat... ORPHA:53583
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Retinal thinning, Retinal atrophy, Cerebellar cys... OMIM:615960
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar vermis atrophy, Seizure, Tongue fasciculations, Ataxia, Babinski sign, Bilateral tonic... OMIM:618170
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Pancreatitis, Hepatomegaly, Dehydration ORPHA:27
Carnitine Deficiency, Systemic Primary
Microvesicular hepatic steatosis, Impaired gluconeogenesis, Dicarboxylic aciduria, Decreased carn... OMIM:212140
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... OMIM:601764
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Myoclonic seizure, Chorea, Spasticity, Seizure, EEG abnormality, Stereotypical hand wringing, Ina... OMIM:614254
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Typical absence seizure, Seizure, Inability to walk, Eyelid myoclonus, Clumsiness... ORPHA:2590
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Alpha-aminoadipic aciduria, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, H... OMIM:620089
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Spasticity, Generalized tonic seizure, EEG abnormality, Inability to walk, Hyp... OMIM:617105
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Impulsivity, Dysmetria, Tremor, Lower limb spasticity, C... OMIM:619028
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Typical absence seizure, Abnormal cerebellum morphology, Seizure, Abnormal ... ORPHA:101070
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
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar vermis atrophy, Bradykinesia, Seizure, Ankle clonus, Abnormal pyramidal si... OMIM:617435
Pontocerebellar Hypoplasia Type 2
Spasticity, Hypoplasia of the ventral pons, Seizure, Cerebellar hypoplasia, Impaired oropharyngea... ORPHA:2524
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:607681
Fanconi-Bickel Syndrome
Abnormal hepatic glycogen storage, Renal tubular acidosis, Impaired glucose tolerance, Glycosuria... ORPHA:2088
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Resting tremor, Parkinsonism, Myoclonus, Motor tics, Ataxia, Bilateral tonic-clonic seizu... OMIM:619725
Oxoglutarate Dehydrogenase Deficiency
Gait ataxia, Falls, Rigidity, Bilateral tonic-clonic seizure, Dysmetria, Unsteady gait OMIM:203740
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-clonic se... OMIM:607631
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Aminoacylase 1 Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Seizure, Hyperactivity OMIM:609924
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... OMIM:604367
Severe Canavan Disease
Spasticity, Seizure, Inability to walk, Babinski sign, Bilateral tonic-clonic seizure, Decerebrat... ORPHA:314911
Congenital Tufting Enteropathy
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Abnormal... ORPHA:92050
Donohue Syndrome
Hyperinsulinemia, Hepatic fibrosis, Long penis, Postprandial hyperglycemia, Cholestasis, Pancreat... OMIM:246200
Familial Renal Glucosuria
Recurrent urinary tract infections, Glycosuria, Insulin resistance, Nephropathy, Dehydration, Hyp... ORPHA:69076
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Spasticity, Focal-onset seizure, Bilateral tonic-clonic seizure, Partia... ORPHA:171680
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Spasticity, Seizure, EEG abnormality, Status epilepticus, Bilateral tonic-clonic seizure,... OMIM:613970
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Recurrent pneumonia, Recurrent lower respiratory tract infe... OMIM:616726
Sulfite Oxidase Deficiency, Isolated
Cerebellar hypoplasia, Multifocal epileptiform discharges, Choreoathetosis, Agitation, Hemiplegia... OMIM:272300
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Seizure, Impulsivit... OMIM:301008
Chylous Ascites
Ascites, Abnormal intestine morphology, Pancreatitis, Lymphedema ORPHA:1160
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Bronchiectasis OMIM:615294
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Cerebellar atrophy, Athetosis OMIM:614559
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:616172
D-2-Hydroxyglutaric Aciduria 1
Myoclonic seizure, Seizure, Lateral ventricle dilatation, Hypsarrhythmia, Tonic seizure, Bilatera... OMIM:600721
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Neonatal death, Spastic tetraplegia OMIM:618237
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Spastic diplegia, Myoclonus, Ataxia, Babinski sign, Bilateral tonic-clonic seizure OMIM:619065
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Abnormal intestine morphology, Hypoglycemia, Renal t... OMIM:606528
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Seizure, Parkinsonism, Myoclonic spasms, Clumsiness, Interictal EEG... ORPHA:79264
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal respiratory m... ORPHA:922
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Hyperactivity, Seizure, Myoclonus, Ataxia, Tremor, Tetraparesis OMIM:615924
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Spasticity, Seizure, Spastic tetraplegia, Focal-onset seizure, Spastic hemipar... OMIM:619616
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Hyperactivity, Seizure, EEG with generalized epileptiform discharges, ... OMIM:619827
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Developmental And Epileptic Encephalopathy 90
Ankle clonus, Limb hypertonia, Focal-onset seizure, Hypsarrhythmia, EEG with burst suppression, B... OMIM:301058
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure, Broad-based gait, Inability to walk OMIM:618470
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hemolytic-uremic syndrome, Glomerulopathy, Hydrops fetalis, Methylmalonic aciduria, Ketonuria, Ja... ORPHA:79282
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Seizure, Clumsiness, Hydrocephalus, Agitation, Bilateral tonic-clonic seizure, Res... OMIM:300558
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Spastic tetraplegia, EEG with burst suppression, Hypsarrhythmia, Gener... OMIM:612164
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized tonic seizure, Se... OMIM:618067
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, EEG with focal epilepti... ORPHA:98795
Cdkl5-Deficiency Disorder
Generalized tonic seizure, Stereotypical hand wringing, Focal-onset seizure, Multifocal epileptif... ORPHA:505652
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
EEG with spike-wave complexes (>3.5 Hz), Seizure, Paroxysmal dyskinesia, Generalized non-motor (a... OMIM:609446
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Ileoileal intussusception, Microvesicular hepatic steatosis, Grade II vesicoure... OMIM:619377
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Inability to walk, Hypsarrhythmia, Myoclonus, Multifocal epileptiform ... ORPHA:411986
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure with focal onset, EEG with occipital epileptiform discharges, Seiz... OMIM:619428
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Spasticity, Seizure, Spastic dysarthria, Abnormal repetitive mann... ORPHA:280763
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, High palate, Ketonuria OMIM:614520
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Macronodular adrenal hyperplasia, Increased circulating cortisol level, Increased ... OMIM:615954
Wolcott-Rallison Syndrome
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Abnormality... ORPHA:1667
Episodic Ataxia Type 4
Ataxia, Incoordination, Abnormal head movements, Frequent falls ORPHA:79136
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Absen... OMIM:615067
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Adrenal insufficiency, Lacticaciduria, Hepatic steatosis, Hypoglycemia, Renal insu... OMIM:619386
Atypical Rett Syndrome
Gait ataxia, Limb myoclonus, Spasticity, Seizure, EEG abnormality, Stereotypical hand wringing, I... ORPHA:3095
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:616685
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Seizure, Hydrocephalus, Spastic tetraparesis, Tremor, Broad-based gait OMIM:619470
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, EEG with focal spikes, Focal hyperkinetic seizure, Int... ORPHA:98784
Reticular Dysgenesis
Malabsorption, Dehydration ORPHA:33355
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Intrahepatic biliary atresia, Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Chole... OMIM:208085
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Protein-losing enteropathy, Hematochezia, Dehydration ORPHA:103910
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609253
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Gait ataxia, Inability to walk, Limb hypertonia, Recurrent hand flapping, Chor... OMIM:619580
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Compensated hypothyroidism, Hypoglycemic seizures, Hypoglycemia, Gastrointestinal dysm... ORPHA:480864
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Seizure, Akinesia, Postural tremor, Resting tremor, Clumsiness, Parkinsonism... OMIM:619911
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Type I diabetes mellitus, Polyuria, Hepatomegaly, Dehydration OMIM:560000
Vipoma
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... ORPHA:97282
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Alaninuria, Hepatomegaly OMIM:615158
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613863
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Spasticity, Fasciculations, Seizure, Generalized myoclonic seizur... ORPHA:464282
Developmental And Epileptic Encephalopathy 106
Limb hypertonia, Cerebellar hypoplasia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clon... OMIM:620028
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Diabetes mellitus, Bilateral tonic-clonic seizure, Lateral ventricle dilatation OMIM:619278
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Anuria, Intussusception, Acute kidney injury, Peritonitis, Hemoglobinuria... ORPHA:90038
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Complex febrile seizure, Status epilepticus without prominent mot... ORPHA:363549
Cln3 Disease
Myoclonic seizure, Seizure, Shuffling gait, Focal-onset seizure, Ataxia, Bilateral tonic-clonic s... ORPHA:228346
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Atonic seizure, Seizure OMIM:309530
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Chorea, Hyperactivity, Spasticity, Abnormal pyramidal sign, Seizure, EEG abnormality... ORPHA:500180
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Ketonuria, Hypoglycemia, Myoglobinuria, Oral-pharyngeal dysphagia OMIM:616878
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Pyruvate Carboxylase Deficiency
Generalized clonic seizure, Abnormal pyramidal sign, Tip-toe gait, Seizure, Recurrent hand flappi... ORPHA:3008
Myoclonic-Astatic Epilepsy
Hyperactivity, Abnormal pyramidal sign, EEG with polyspike wave complexes, Focal-onset seizure, G... ORPHA:1942
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Organic aciduria, Hypoglycemia, Hyperglycinuria, Ketonuria OMIM:210210
Scorpion Envenomation
Hyperhidrosis, Pulmonary edema, Ketonuria, Glycosuria, Acute kidney injury, Edema, Acute pancreat... ORPHA:466677
Autosomal Agammaglobulinemia
Hepatitis, Malabsorption, High palate, Dehydration ORPHA:33110
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Biliary cirrhosis, Fasting hypoglycemia, Enlarged polycystic ovaries, Enlarged ... ORPHA:2298
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Duodenal Atresia
Polyhydramnios, Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Spasticity, Seizure, Focal clonic seizure, Loss ... OMIM:617933
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... OMIM:613060
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hypoglycemia, Aminoaciduria, Splenomegaly ORPHA:664
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure, Hyperactivity OMIM:301076
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Optic nerve hypoplasia, Hypoplasia ... OMIM:615181
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... OMIM:608096
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Pneumothorax, Parathyroid adenoma, Emphysema ORPHA:122
Cntnap2-Related Developmental And Epileptic Encephalopathy
Bilateral tonic-clonic seizure with focal onset, Hyperactivity, Cerebellar vermis atrophy, Seizur... ORPHA:163681
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Stereotypical hand wringing, Bilateral tonic-clonic seizure, Focal impaired awareness se... OMIM:619854
Martinez-Frias Syndrome
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ... OMIM:601346
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Lissencephaly 9 With Complex Brainstem Malformation
Myoclonic seizure, Cerebellar hemisphere hypoplasia, Spasticity, Seizure, Involuntary movements, ... OMIM:618325
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Seizure, Upper limb spasticity, Gait disturbance, Abnormal repetitive manne... ORPHA:457240
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure with focal onset, Focal emotional seizure with laughing, Inability... OMIM:619881
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraplegia, Hemiplegia OMIM:614483
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, EEG abnormality, Bilateral tonic-clonic seizure, Decreased nerve conduction ve... ORPHA:457205
Chronic Hiccup
Dehydration ORPHA:396
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Spasticity, Seizure, Cerebral palsy, Repetitive compulsive behavior, Abnormal repe... ORPHA:352490
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Hyperactivity, Seizure, Ataxia, Tremor OMIM:300983
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... OMIM:620115
Pearson Syndrome
Hypothyroidism, Adrenal insufficiency, Lacticaciduria, Hepatic steatosis, Hypoparathyroidism, Hep... ORPHA:699
Adrenal Hypoplasia, Congenital
Decreased circulating aldosterone level, Adrenal insufficiency, Decreased circulating cortisol le... OMIM:300200
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset, Clumsiness ORPHA:158
Ritscher-Schinzel Syndrome 4
Chorea, Cerebellar hypoplasia, Focal-onset seizure, Agenesis of corpus callosum, Ataxia, Bilatera... OMIM:619435
D-Glyceric Aciduria
Spasticity, Seizure, Spastic tetraplegia, Hypsarrhythmia, Myoclonus, Focal clonic seizure, Status... OMIM:220120
Hypercalcemia, Infantile, 1
Medullary nephrocalcinosis, Polyuria, Dehydration, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria OMIM:143880
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Spasticity, Seizure, Inability to walk, EEG abnormality, Tremor, Bruxism OMIM:618718
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Migraine, Familial Hemiplegic, 2
Gait ataxia, Focal motor seizure, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Bilateral to... OMIM:602481
Pitt-Hopkins-Like Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Hyperactivity, Spasti... OMIM:610042
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Cholangiocarcinoma, Hepatocellular carcinoma, Diabetes mellitus, Testi... ORPHA:465508
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Spasticity, Hyperactivity, Seizure, Agenesis of corpus callosum OMIM:615286
Galactosemia Iii
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Cystic Fibrosis
Meconium ileus, Biliary cirrhosis, Cirrhosis, Steatorrhea, Hepatosplenomegaly, Hepatomegaly, Dehy... OMIM:219700
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Seizure, Bruxism OMIM:300434
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology, Abnormal renal physiology, De... ORPHA:2290
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Nasal polyposis, Emphysema, Bronchiolitis OMIM:604571
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Somatic sensory dysfunction, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Hemiparesis, Ps... ORPHA:199354
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Cryptorchidism, Dehydration OMIM:214150
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Seizure, Interictal EEG abnormality, Bilateral tonic-clonic seizure, EEG with focal e... ORPHA:544503
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Gait ataxia, Generalized-onset seizure, Truncal ataxia, Abn... ORPHA:85278
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... OMIM:617924
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Hyperglycemia OMIM:609069
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Propionic Acidemia
Organic aciduria, Hypoglycemia, Hepatomegaly ORPHA:35
Dentici-Novelli Neurodevelopmental Syndrome
Myoclonic seizure, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic seizure, Hypertonia,... OMIM:619877
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Hepatitis, Abnormal renal tubule morphology, Steatorrhea, Postprandial hyper... ORPHA:440713
Hyperlysinemia, Type I
Hyperactivity, Seizure OMIM:238700
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Pleural effusion, Diabetes mellitus... OMIM:167800
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Spasticity, Seizure, Bilateral tonic-clonic seizure, Hypertonia, Generalized non-motor (absence) ... OMIM:616281
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Hypoglycemia, Hepatomegaly OMIM:614741
Sarcosinemia
Bilateral tonic-clonic seizure, Tetraparesis, Ataxia ORPHA:3129
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Shigellosis
Intestinal perforation, Hemolytic-uremic syndrome, Acute kidney injury, Paralytic ileus, Ulcerati... ORPHA:810
Cystinosis, Nephropathic
Aminoaciduria, Hyperphosphaturia, Hepatomegaly, Dysphagia, Dehydration, Low-molecular-weight prot... OMIM:219800
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Spastic paraparesis, Bilateral tonic-clonic seizure, Complex febrile seizure... OMIM:619338
Netherton Syndrome
Aminoaciduria, Malabsorption, Ectopic kidney, Dehydration, Hydronephrosis ORPHA:634
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraplegia, Progressive spastic paraparesis, Cerebellar vermis atrophy, Falls... ORPHA:329308
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Motor tics OMIM:619927
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased testicular... ORPHA:90791
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Poor coordination, Recurrent hand flapping, Gait disturbance, Abnormal... ORPHA:544254
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:615697
4Q21 Microdeletion Syndrome
Seizure, Cerebellar hypoplasia, Abnormal repetitive mannerisms, Tremor, Agenesis of corpus callosum ORPHA:238750
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Ketonuria, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Increased urinary glycerol, Cholestas... ORPHA:247598
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Infantile spasms, Hyperactivity, Seizure OMIM:619031
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Gracile Syndrome
Aminoaciduria, Cholestasis OMIM:603358
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Peritonitis, Edema, Hyperglycemia, Ascites ORPHA:391673
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Hypercalciuria, Distal renal tubular acidosis, Dehydration OMIM:602722
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, EEG abnormality, Focal-onset seizure, Choreoathetosis, Atonic seizure... ORPHA:1934
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Hyperactivity, Seizure, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor OMIM:612716
Lafora Disease
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Spasticity, Seizure, Inabilit... ORPHA:501
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Inability to walk, Focal-onset seizure, Atonic seizure, Focal impaired awarene... OMIM:616973
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Stereotypical hand wringing, Bulimia, Generalized myoclonic seizure, Hypsarrhythmi... OMIM:300912
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Hyperactivity, Spasticity, Seizure, Abnormal pyramidal sign, Myocl... ORPHA:363400
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s... OMIM:610539
Hydroxykynureninuria
Aminoaciduria, Jaundice OMIM:236800
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Glycosuria, Malabsorption, Hyperphosphaturia, Bicarbonate-wasting... ORPHA:47159
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Patent ductus arteriosus, Colon perfo... OMIM:600001
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Spasticity, Recurrent hand flapping, Seizure, Chiari type I malformation OMIM:618859
Xq25 Microduplication Syndrome
Hyperactivity, Seizure, Cerebellar hypoplasia ORPHA:521258
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Cerebellar hypoplasia, Myoclonus, Multifocal epileptiform discharges, Status epilepticus,... OMIM:616672
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, 3-Methylglutaconic aciduria, Neonatal hypoglycemia, Hepatic steatosis, Dehydration OMIM:616271
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Pseudohypoaldosteronism, Renal salt wasting, Dehydration OMIM:264350
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Pulmonary edema, Ketonuria, Anteriorly placed anus, Hypoglycemi... OMIM:220111
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Bradykinesia, Seizure, Spastic tetraplegia, Spastic gait, Resting tremor, Shuffling gait, Parkins... OMIM:300055
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Aplasia/Hypoplasia of the cerebellum, Myoclonic seizure, Spasticity, Involuntary movements, Abnor... ORPHA:572013
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Limb hypertonia, Cerebellar hypoplasia, Generalized myoclonic seizure,... OMIM:615501
African Iron Overload
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Hepatocellular carcinoma, Hepa... ORPHA:139507
Amish Lethal Microcephaly
Limb hypertonia, Spina bifida, Bilateral tonic-clonic seizure, Agenesis of corpus callosum, Cereb... ORPHA:99742
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hydrocephalus, Alcoholism, Seizure ORPHA:90065
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Glycosuria, Stage 5 chronic kidney disease, Renal sodiu... ORPHA:3337
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar dysplasia, Cerebellar hypoplasia, Retinal dystrophy, Cerebellar vermis hypoplasia, Fac... OMIM:613155
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Spasticity, EEG abnormality, Hypsarrhythmia, Babinski sign, Tonic seizure, Dysmetr... OMIM:617773
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Seizure, EEG with polyspike wave complexes OMIM:617169
Dk1-Cdg
Seizure, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Bilateral tonic... ORPHA:91131
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Seizure, Inferior cerebellar vermis hypoplasia, Recurrent hand flapping, Bruxism OMIM:613192
Isovaleric Acidemia
Hyperglycinuria, Dehydration OMIM:243500
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Spasticity, Seizure, Inability to walk, Limb hypertonia, Ataxia, Bilateral tonic-clonic seizure, ... ORPHA:481152
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
EEG with generalized epileptiform discharges, Seizure, EEG abnormality, Inability to walk, Limb h... ORPHA:488613
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hypoplasia of the pons, Retinal det... OMIM:613153
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Cholelithiasis, Dehydration ORPHA:171876
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Myoclonic seizure, Spasticity, Hypsarrhythmia, EEG with focal sharp slow waves, Tonic seizure, Bi... OMIM:619983
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Seizure, EEG abnormality, Ataxia, Polyphagia, Broad-based gait ORPHA:411515
Pyruvate Dehydrogenase E2 Deficiency
Oculomotor apraxia, Choreoathetosis, Jerky head movements, Ataxia OMIM:245348
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar dysplasia, Seizure, Lateral ventricle dilatat... OMIM:617751