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
Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli... ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus 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
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
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Stxbp1-Related Encephalopathy
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavi... ORPHA:382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Cerebellar dysplasia OMIM:615041
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, EEG abnormality, Tr... OMIM:608636
Jeavons Syndrome
Abnormal head movements, Bilateral tonic-clonic seizure with generalized onset, Focal seizure wit... ORPHA:139431
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... OMIM:619970
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, EEG abnormality, Agit... OMIM:617171
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... OMIM:617113
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... ORPHA:98818
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Continuous Spikes And Waves During Sleep
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... ORPHA:725
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Clumsiness, EEG abnormality, Fo... OMIM:610003
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... ORPHA:101071
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... OMIM:601068
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:619964
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, EEG with generalized epilepti... OMIM:616187
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:245570
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Multi... OMIM:617904
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... OMIM:618141
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, ... OMIM:618090
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... ORPHA:2382
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... ORPHA:79644
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, At... OMIM:619639
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Dysplastic corpus callosum, Unsteady g... OMIM:620317
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, Sp... OMIM:619301
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Aggressive behavior, Typical abs... OMIM:616409
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... OMIM:613608
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... OMIM:619605
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... OMIM:619302
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Abnormal cerebellum morphology, Myoclonic s... OMIM:162350
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Bi... OMIM:615710
Lissencephaly 3
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Seizur... OMIM:611603
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Chorea, Poor co... OMIM:619150
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, D... OMIM:617862
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxi... OMIM:616230
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Huntington Disease-Like 1
Cerebellar atrophy, Restlessness, Abnormal head movements, Incoordination, Involuntary movements,... ORPHA:157941
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior OMIM:617709
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Agg... ORPHA:86909
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizur... OMIM:618856
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus OMIM:603204
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,... OMIM:614322
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait a... ORPHA:488635
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, G... OMIM:271980
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, EEG with spike-wave complexes,... ORPHA:36387
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic se... OMIM:618917
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Cerebellar edema, Abnormal head movements, Seizure precipitated by fe... ORPHA:363558
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Clonic seizure, Hydrocephalus, EEG with burst suppression, Status... OMIM:266100
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... ORPHA:101039
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Pyknoachondrogenesis
Stillbirth OMIM:265880
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... OMIM:617389
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy, EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic s... OMIM:617643
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... OMIM:619157
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ... OMIM:616341
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Oral-pharyngeal dysp... ORPHA:208447
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Seizure, Cere... OMIM:604213
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, EEG abnormality, Status epilepticus, Abnorma... OMIM:239500
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo... OMIM:617810
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythm... OMIM:613722
Episodic Ataxia, Type 9
Cerebellar edema, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status ... OMIM:618924
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski... OMIM:615362
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Attention deficit hyperactivity dis... OMIM:619191
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Generalized-onset seizure, Inability to walk, Babinski sign, Spastic tetraplegia, ... OMIM:616657
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive man... OMIM:618709
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, I... OMIM:617166
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:611726
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Renal steatosis, Increased hepatic echogenicity, Fasting h... OMIM:261680
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Abnormal repetitive manner... ORPHA:561854
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik... OMIM:607682
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Enteric Anendocrinosis
Portal hypertension, Malabsorption, Dehydration, Cholestatic liver disease, Type I diabetes mellitus ORPHA:83620
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Hypsarrhythmia, Seizure, Status epilepticus, Abnormal repeti... OMIM:617830
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... ORPHA:98820
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... ORPHA:99885
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Malabsorption, Intrahepatic cholestasis,... OMIM:227810
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... OMIM:615369
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprand... ORPHA:2089
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Gastroesophageal reflux, Methylmalonic aciduria, Dehydration OMIM:251120
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Generalized-onset seizure, Tremor, Dysplastic corpus callosum, Hypo... OMIM:619737
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp... OMIM:616139
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... OMIM:613855
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia, High palate, Oligohydramnios OMIM:619053
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu... OMIM:301020
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre... OMIM:300423
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology, Dehydration OMIM:251850
Mody
Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli... ORPHA:552
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... OMIM:254800
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level,... OMIM:210200
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus, Agenesis of co... OMIM:605899
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal i... OMIM:612691
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Hy... ORPHA:168491
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... OMIM:617391
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Poor coordination, Limb atax... OMIM:617695
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:618497
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG dischar... ORPHA:263516
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chiari type I malformation, EEG abnorma... OMIM:617836
Cln5 Disease
Generalized-onset seizure, Tremor, Dysmetria, EEG with focal spikes, Hyperactivity, Abnormal cent... ORPHA:228360
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure... OMIM:619913
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with fo... ORPHA:163721
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... ORPHA:240103
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Seizure, Hyperactivity, Ataxia OMIM:613402
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor... OMIM:617493
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... OMIM:608105
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spasti... ORPHA:313772
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... OMIM:204300
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure OMIM:617080
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Tremor, Rigid... OMIM:612736
Spinocerebellar Ataxia 48
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinsk... OMIM:618093
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus... OMIM:619470
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria OMIM:618857
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Inability to wal... ORPHA:330050
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... ORPHA:485350
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Jaundice, Lacticaciduria, Elevat... OMIM:615751
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Rasmussen Subacute Encephalitis
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... ORPHA:1929
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Abnormal repetitive mannerisms, Self-mu... OMIM:614063
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Generalized non-m... OMIM:617665
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity, EEG abnormality ORPHA:436151
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Chorea, Inability to walk, Self-injurious behavior, EEG abnormality, Convuls... OMIM:618760
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Agenesis of corpus callosum, Bilateral tonic-clonic seizure OMIM:620200
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S... OMIM:226750
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, EEG with focal spikes, Focal cloni... ORPHA:140927
Primary Dystonia, Dyt13 Type
Torticollis, Postural tremor, Involuntary movements, Abnormal repetitive mannerisms, Jerky head m... ORPHA:98807
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Seizure, Self-injurious behavior, EEG abnormality, Spas... OMIM:617820
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, D... OMIM:614487
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Ketotic hypoglycemia, Dehydration ORPHA:79159
Developmental And Epileptic Encephalopathy 107
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure OMIM:620033
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seiz... OMIM:615716
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Ankle clonus, Seiz... OMIM:617435
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements OMIM:618425
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Edema, Dehydration, Hyperglycemia ORPHA:134
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abs... OMIM:617600
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Hypoglycemia, Cryptorchidism, Dehydration, Dysphagia OMIM:618958
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Edema, Jaundice, Lipid accu... ORPHA:20
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi... OMIM:617976
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... OMIM:617350
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy OMIM:619690
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Tongue thrusting, Lat... ORPHA:77299
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-cloni... ORPHA:352582
Hartnup Disorder
Hyperactivity, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Ge... OMIM:234500
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... OMIM:616645
Monocarboxylate Transporter 1 Deficiency
Ketonuria, Ketotic hypoglycemia OMIM:616095
Centralopathic Epilepsy
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... OMIM:117100
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior OMIM:309530
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Clonic seizure, Spastic tetraplegia, Self-injurious behavior, Seizure, Hypertonia, Abnormal repet... OMIM:615282
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Ketonuria, Hypoglycemia, Dehydration OMIM:615453
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, De... OMIM:251100
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Dehydration, Renal tubular ... ORPHA:213
Glutaric Acidemia I
Glutaric aciduria, Ketonuria, Hypoglycemia, Hepatomegaly OMIM:231670
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Tetraplegia, Seizure, Hypertonia, Agenesis of corpus callosum OMIM:274270
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Dehydration ORPHA:28
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Myoclonic absence seizure OMIM:612621
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetr... OMIM:618012
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, EEG ... ORPHA:529665
Huntington Disease-Like 3
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr... ORPHA:157946
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Jerky head movements, Punding, Attention... ORPHA:64280
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Self-biting, Seizure, Recurrent hand flapping OMIM:300624
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Epileptic spasm, Inability to walk, Chorea, Myoclonic seizure, Seizure, Self-... OMIM:614254
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Nocturnal seizures,... OMIM:619725
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... ORPHA:1945
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Malabsorption, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Hyperglycemia, Gliosis OMIM:604484
Essential Fructosuria
Hyperglycemia ORPHA:2056
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Ketonuria, Methylmalonic aciduria, Dehydration OMIM:251110
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Hypsarrh... OMIM:615859
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis OMIM:104290
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a... OMIM:619355
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with multifocal slow ac... ORPHA:289266
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration, ... OMIM:251000
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619028
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Dehydration, Pancreatitis ORPHA:79312
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Difficulty walking, Spasticity, Ab... OMIM:617393
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Hepatomegaly, Ketonuria, Lacticaciduria OMIM:619167
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Exaggerated startle ... OMIM:617281
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Abnormal cerebellum morphology, Seizure, Abnormalit... OMIM:204200
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Seizure, Self-injurious behavior, EEG abnormality, Brux... OMIM:618718
Juvenile Huntington Disease
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Brady... ORPHA:248111
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Glucose/Galactose Malabsorption
Malabsorption, Abnormal oral glucose tolerance, Hypertonic dehydration, Glycosuria OMIM:606824
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... ORPHA:93952
Greig Cephalopolysyndactyly Syndrome
Seizure, Hydrocephalus, Agenesis of corpus callosum, Hyperglycemia OMIM:175700
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... ORPHA:247815
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Macroglossia, 3-Methylglutaconic aciduria, Myoglobinuria, Hypothyroidism OMIM:251900
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Inability to walk, Partial agenesis of ... ORPHA:79243
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Status epile... OMIM:609056
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Bilateral tonic-c... OMIM:618067
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic aciduria, Hypoglycemia, Methylmalonic aciduria, Dehydration ORPHA:289504
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Seizure, Compulsi... OMIM:301107
Peho-Like Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Hypsarrhythmia, Status epilepticus, Myoclonus OMIM:617507
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Hyperglycemia, Rod-cone dystrophy, Retinal degeneration,... OMIM:615986
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Tonic s... OMIM:619580
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy, Elongated sup... ORPHA:370022
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Cerebellar vermis... OMIM:615960
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Bilateral tonic-clonic seizure, Postural tre... ORPHA:100988
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with genera... ORPHA:2590
Aminoacylase 1 Deficiency
Cerebellar atrophy, Seizure, Hyperactivity, Bilateral tonic-clonic seizure OMIM:609924
Combined Malonic And Methylmalonic Aciduria
Methylmalonic aciduria, Dehydration OMIM:614265
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Hyperglycinuria, Dehydrati... OMIM:606054
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure, Hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Neonatal hyp... OMIM:240900
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with... ORPHA:163681
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Hydrocephalus, ... OMIM:300558
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste... OMIM:615237
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Dehydration, Recurrent hyp... OMIM:212140
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o... ORPHA:101070
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption, Hypercalciuria, Macronodular c... OMIM:557000
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Pancreatitis, Dehydration ORPHA:27
Cdkl5-Deficiency Disorder
Infantile spasms, Impaired pain sensation, Focal-onset seizure, Multifocal epileptiform discharge... ORPHA:505652
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Spasticity OMIM:615924
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Infantile sp... ORPHA:2524
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Involuntary movements, Multifocal epileptiform discharges, Seizur... ORPHA:209370
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... OMIM:620292
Severe Canavan Disease
Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Seiz... ORPHA:314911
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, High pa... OMIM:620089
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... ORPHA:53583
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, G... OMIM:618170
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... OMIM:617105
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor... ORPHA:500180
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure, Ataxia, Multifocal epileptiform discharges, Choreoathetosis, Hype... OMIM:272300
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Seizure, EEG abn... ORPHA:3095
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular ca... ORPHA:2088
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Dehydration, Renal tubular dysfunction, E... ORPHA:69076
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... OMIM:604367
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls OMIM:203740
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Bilateral tonic-clonic seizure, Parkinsonism, Poo... ORPHA:79264
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Involuntary movements, Increased thet... ORPHA:98784
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Donohue Syndrome
Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell ... OMIM:246200
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Chylous Ascites
Ascites, Abnormal intestine morphology, Pancreatitis, Lymphedema ORPHA:1160
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Infantile... ORPHA:171680
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Agg... ORPHA:228346
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus OMIM:619065
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Seizure, Spasticity OMIM:300983
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, EEG abnormality, Seizure, Focal impaired awareness seizur... OMIM:613970
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Abnormal in... OMIM:606528
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Neonatal death OMIM:618237
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium mor... ORPHA:922
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis OMIM:614559
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... OMIM:617290
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... OMIM:619854
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... OMIM:600721
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... OMIM:619616
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Hypsarrhythmia, Myoclonic sei... OMIM:619877
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Hemolytic-uremic syndrome, Jaundice... ORPHA:79282
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Babinski sign, H... OMIM:301058
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para... OMIM:612164
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset seizure, Ab... OMIM:619435
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Seizure, Lateral ventricle dilatation, Abnormal repe... OMIM:613443
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Micro... OMIM:619377
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Gait disturbance, Upper ... ORPHA:457240
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) seizure, E... OMIM:609446
Pyruvate Carboxylase Deficiency
Hypoglycemia, Ataxia, Infantile spasms, Generalized clonic seizure, Anorexia, Tremor, Cerebellar ... ORPHA:3008
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Incoordination, Ataxia ORPHA:79136
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure... ORPHA:1942
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria, High palate OMIM:614520
Wolcott-Rallison Syndrome
Hepatomegaly, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Jaundice, Chroni... ORPHA:1667
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Hypoplasia of the pons, Abnormal repetitive mannerisms, Inability to walk, Gene... ORPHA:411986
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Increased circulating cortisol level, Macronodular adrenal hype... OMIM:615954
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Reticular Dysgenesis
Dehydration, Malabsorption ORPHA:33355
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Seizure, Spasticity, Agenesis of corpus callosum OMIM:615286
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Waddling gait, Babinski sign, Spastic dysarthria, Seizure, Difficulty walking... ORPHA:280763
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Lacticaciduria, Aminoaciduria, Adrenal insufficiency, Hepatic ... OMIM:619386
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation, Jaundice, Dehydration, Nephroc... OMIM:208085
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Hypoglycemia, Gastrointestinal dysmotility, Hypoglycemic seizures, Dysphagia, Compensa... ORPHA:480864
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... OMIM:600795
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Edema, Dehydration ORPHA:103910
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Oculomotor apraxia,... OMIM:612716
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG a... OMIM:618218
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Akinesia, Rigidity... OMIM:619911
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Dehydration, Proximal tubulopathy, Type I diabetes mellitus OMIM:560000
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hepatomegaly, Hypoglycemia OMIM:615158
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Diabetes mellitus, Bilateral tonic-clonic seizure OMIM:619278
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Cerebellar... OMIM:620028
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention defici... OMIM:301029
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait OMIM:615031
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Seiz... ORPHA:464282
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonitis, Colonic stenosis, Deh... ORPHA:90038
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Oral-pharyngeal dysphagia, Myoglobinuria, Hypothyroidism OMIM:616878
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97282
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria OMIM:210210
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Seizure, Lateral ventricle... OMIM:617751
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Aggressive behavior,... ORPHA:199354
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Autosomal Agammaglobulinemia
High palate, Hepatitis, Dehydration, Malabsorption ORPHA:33110
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile sp... OMIM:618325
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Aminoaciduria, Hypoglycemia ORPHA:664
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Insulin resistance, Fasting hyperinsu... ORPHA:2298
Scorpion Envenomation
Acute pancreatitis, Ketonuria, Edema, Hyperhidrosis, Glycosuria, Hyperglycemia, Acute kidney inju... ORPHA:466677
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Polyhydramnios, Duodenal atresia ORPHA:1203
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebel... OMIM:615181
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Focal EEG discharges with... ORPHA:3077
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Hypospadias, Intestinal ma... 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, Ge... OMIM:604233
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Birt-Hogg-Dubé Syndrome
Parathyroid adenoma, Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... OMIM:613670
Chronic Hiccup
Dehydration ORPHA:396
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, EEG abnor... ORPHA:457205
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Hypoglycemia, Tongue thrusting, Spastic tetraplegia, Hypsarrhythm... OMIM:220120
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, T... OMIM:300912
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Hypercalciuria, Biliary cirrhosis, Hepatosp... OMIM:219700
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Brain Small Vessel Disease 2
Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraplegia OMIM:614483
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... ORPHA:699
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Restlessness, Interictal EEG abnormality, Bilateral tonic-clonic seizure, Inf... ORPHA:544503
Xq25 Microduplication Syndrome
Seizure, Hyperactivity, Cerebellar hypoplasia ORPHA:521258
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Hypercalciuria, Dehydration, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:143880
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic para... ORPHA:329308
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Christianson Syndrome
Cerebellar atrophy, Generalized-onset seizure, Truncal ataxia, Gait ataxia, Inappropriate laughte... ORPHA:85278
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Recurrent bronchitis OMIM:604571
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
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Thickened superior cerebellar peduncle, C... OMIM:610688
Microvillus Inclusion Disease
Villous atrophy, Dehydration, Nephrocalcinosis, Abnormal small intestinal villus morphology, Abno... ORPHA:2290
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Primary adrenal insuffi... OMIM:300200
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hypoglycemia ORPHA:35
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Seizure, EEG abnormality, Inappropriate laughter, Polyph... ORPHA:411515
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-moto... OMIM:615802
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... OMIM:602481
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Early Infantile Epileptic Encephalopathy
Tremor, Choreoathetosis, Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Seizure, EEG ... ORPHA:1934
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Ataxia, Seizure, Gait disturbance, Inappropriate laughter, Febrile... OMIM:614104
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Febrile seizure (within the age range... OMIM:615516
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Splenomegaly, Hypothyro... ORPHA:465508
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Obesity, Hyperphagia, And Developmental Delay
Seizure, Abnormal repetitive mannerisms, Polyphagia, Generalized non-motor (absence) seizure OMIM:613886
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... ORPHA:254881
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion... OMIM:167800
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... OMIM:219800
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Stea... ORPHA:440713
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria, Hypoglycemia OMIM:614741
4Q21 Microdeletion Syndrome
Tremor, Seizure, Agenesis of corpus callosum, Self-injurious behavior, Cerebellar hypoplasia, Abn... ORPHA:238750
Shigellosis
Hypoglycemia, Hemolytic-uremic syndrome, Intestinal perforation, Peritonitis, Urethritis, Ulcerat... ORPHA:810
Netherton Syndrome
Malabsorption, Ectopic kidney, Dehydration, Aminoaciduria, Hydronephrosis ORPHA:634
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... OMIM:619338
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Insulin resistance, Dehydration OMIM:214150
Sarcosinemia
Bilateral tonic-clonic seizure, Tetraparesis, Ataxia ORPHA:3129
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Clonus, Infantile spasms, Aggressive behavior, Tonic seizure, Unsteady gait, Babin... OMIM:617773
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... OMIM:616281
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Inability to walk, Seizure, Difficul... ORPHA:481152
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal salt wasting, Cry... ORPHA:90791
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Intellectual Developmental Disorder, Autosomal Recessive 74
EEG with polyspike wave complexes, Seizure, Hyperactivity OMIM:617169
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Insulin resistance, Hyperinsulinemia, Abn... ORPHA:363400
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Repetitive compulsive behavior, Seizure, Hypertonia, Compulsive be... ORPHA:352490
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... OMIM:616973
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Tremor, Abnormal repetitive mannerisms, Ataxia, Stereotypical hand wr... OMIM:619229
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Hepatomegaly, Increased urinary glycerol, Ketonuria, Jaundice, Chole... ORPHA:247598
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice ORPHA:79238
Gracile Syndrome
Aminoaciduria, Cholestasis OMIM:603358
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Absent gallbladder, Diabetes mellitus, Intestinal malrotation, Patent ductu... OMIM:600001
Necrotizing Enterocolitis
Edema, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia, Ascites ORPHA:391673
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Dehydration OMIM:602722
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure, Loss of ambulatio... OMIM:617933
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Lafora Disease
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... ORPHA:501
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Malabsorption, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nep... ORPHA:47159
Hydroxykynureninuria
Aminoaciduria, Jaundice OMIM:236800
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Hyperaldosteronism, Dehydration, Renal salt wasting OMIM:264350
Acquired Aneurysmal Subarachnoid Hemorrhage
Seizure, Hydrocephalus, Addictive alcohol use, Hyperglycemia ORPHA:90065
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Chromosome Xq25 Duplication Syndrome
Seizure, Hyperactivity, Cerebellar hypoplasia OMIM:300979
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration, 3-Methylglutaconic aciduria, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal epileptiform di... ORPHA:91131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Cerebellar hypoplasia, Cerebellar ... OMIM:613155
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Anteriorly... OMIM:220111
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Multifocal epileptiform discharges, O... OMIM:616672
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Hypertonia, Ce... OMIM:615501
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Aggressive beha... ORPHA:364028
Isovaleric Acidemia
Hyperglycinuria, Dehydration OMIM:243500
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Seizure, Self-injurious behavior, Abnormal repetitive manneris... ORPHA:228402
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Seizure, Progressive spasticity, Dysphagia, Abnormal repetitive m... DECIPHER:45
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Spina bifida, Agenesis of corpus ca... ORPHA:99742
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Seizure, Bruxism, Inferior cerebellar vermis hypoplasia, Recurrent hand flapping OMIM:613192
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Agenesis of cerebellar vermis, Hypoplasia of the pons, Cerebellar hypoplasia,... OMIM:613153
Optic Atrophy 11
Hyperactivity, Ataxia, Gait apraxia, EEG with focal sharp waves, Dysmetria, Seizure, Athetosis, S... OMIM:617302
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Myoclonic seizure, Focal impaired ... OMIM:619983
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Inability to walk, Multifocal epileptiform discharges, EEG with g... ORPHA:488613
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Cholelithiasis, Dehydration ORPHA:171876
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Focal-onset seizure, Inability to walk, Seizure, Status epilepticus, Interict... OMIM:617802
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements OMIM:245348
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Central Diabetes Insipidus
Nocturia, Dehydration ORPHA:178029
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Head-ban... OMIM:619103
Developmental And Epileptic Encephalopathy 64
Inability to walk, Chorea, Hemiparesis, Seizure, Self-injurious behavior, Status epilepticus, Cer... OMIM:618004
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Poor coordination, Poor fine mo... OMIM:620242
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure, Gait imbalance, Hypoglycemia OMIM:618120
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Ballooning hepatocyte degeneration, Argininosuccinic aciduria, Hepatic fibro... OMIM:603471
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... OMIM:208540
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cereb... OMIM:618347
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Compulsive behaviors, Spast... OMIM:619467
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Hyperactivity, Ataxia, Impulsivity, Spastic tetraparesis, Cerebellar gliosis,... ORPHA:35069
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Dehydration, Renal salt wasting OMIM:203400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Dysplastic corpus callosum,... ORPHA:488627
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Broad-based gait, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G... OMIM:300486
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration ORPHA:70589
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, Seizure, EEG abnormality, Ony... OMIM:182290
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Dehydration, Renal salt wasting OMIM:610600
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hemiparesis, Diabetes mellitus, Bilateral tonic-clonic seizure OMIM:540000
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ... ORPHA:98794
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Involuntary movements, Infantile spasms, Myoclonic seizure, Dysphagia, Aplasia/Hypoplasia of the ... ORPHA:572013
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... OMIM:151660
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Lacticaciduria OMIM:619063
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obses... OMIM:618825
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory acti... ORPHA:2388
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Hypoplasia of th... OMIM:618143
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Polyuria, Polyhydramnios, Renal salt wasting, Increased ur... OMIM:601678
Bilateral Polymicrogyria
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ... ORPHA:268940
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Multifocal epileptiform... OMIM:271900
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Familial Cold Urticaria
Dehydration, Hyperhidrosis ORPHA:47045
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... OMIM:261600
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Impaired ... ORPHA:453510
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... OMIM:615538
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Repetitive compulsive... OMIM:300260
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper m... ORPHA:530983
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, 3-Methy... OMIM:246450
Hijazi-Reis Syndrome
Lower limb spasticity, Ankle clonus, Seizure, Gait disturbance, Abnormal repetitive mannerisms OMIM:301094
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Hypertonia, Gait disturbance, Cere... OMIM:300986
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Cerebellar vermis hypoplasia, Generalized-onset seizure, Gait ataxia, Difficult... OMIM:617807
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Aggressive behavior, Seizure, Spasticity ORPHA:457260
Adenylosuccinase Deficiency
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Opisthoto... OMIM:103050
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Hypersplenism, Microvesicular hepatic steatosis, Jaundice, Esophageal varix, ... ORPHA:275761
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Dend Syndrome
Seizure, Hyperglycemia, Hypsarrhythmia ORPHA:79134
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Renal salt ... ORPHA:168558
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration, Zollinger... ORPHA:652
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Status epile... OMIM:615673
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:313892
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Renal salt ... ORPHA:289548
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Infantile spasms, Tonic seizure, EEG with burst suppression, Hypsarrhythmia, Seizure OMIM:619239
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, D... ORPHA:556030
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... OMIM:269880
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior,... ORPHA:2131
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... OMIM:617988
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms, Tetraparesis ORPHA:85277
Pancreatic Agenesis 2
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... OMIM:615935
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... OMIM:171400
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Dysphagia OMIM:255100
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... OMIM:300607
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Unsteady g... OMIM:618733
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Seizure, Self-injurious behavior, Skin-pi... OMIM:600430
Japanese Encephalitis
Decreased motor nerve conduction velocity, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hyper... ORPHA:79139
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease, Glucose in... OMIM:608612
Rabson-Mendenhall Syndrome
Enlarged ovaries, Impaired glucose tolerance, Hypothyroidism, Insulin resistance, Long penis, Fas... ORPHA:769
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm... OMIM:300672
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Torticollis, Bilateral tonic-clonic seizure, Hypoglycemia, Infantile spasms, ... OMIM:620224
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Br... OMIM:610217
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Focal-onset seizure, Partial agenesis ... ORPHA:300570
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Seizure, EEG abnormality, I... ORPHA:411511
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor ... OMIM:615398
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cholestasis, Tubuloi... OMIM:124000
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Aqueductal stenosis, Hypoplasia of ... OMIM:619512
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Seizure, EEG abnormality, Agitation, Gait disturba... ORPHA:778
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Seizure, Compulsive behaviors, Spa... OMIM:618430
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tetraplegia, Spasticity, Fasciculatio... ORPHA:496641
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Red urine, Increased urinary ... OMIM:618892
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure, Head-banging OMIM:619356
Fg Syndrome 3
Chiari type I malformation, Hyperactivity, Agenesis of corpus callosum OMIM:300406
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Dehydration,... ORPHA:230
Holoprosencephaly 14
Cerebellar atrophy, Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis... OMIM:619895
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Repetitive compulsive behavior, Oromotor apraxia, Seizure, EEG abnormality, At... ORPHA:391372
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Seizure, Agenesis of corpus callosum, Attention deficit hyperactivi... OMIM:620073
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:42
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agita... OMIM:607485
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Hydrocephalus... ORPHA:395
Gomez-Lopez-Hernandez Syndrome
Fusion of the cerebellar hemispheres, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar ve... OMIM:601853
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Aggressive behavior OMIM:616083
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise... OMIM:201475
Microsporidiosis
Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Urethritis, Periton... ORPHA:2552
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Myoglobinuria, Hepatic steatosis,... OMIM:231530
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Deh... ORPHA:411629
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarboxylic aciduria, Hepatic steatosi... OMIM:201450
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Seizure, Agenesis of corpus callosum, Gait imba... OMIM:619312
Cole Disease
Hyperglycemia OMIM:615522
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Aggressive beh... OMIM:617799
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria OMIM:619003
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dila... OMIM:618914
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Seizure, Agenesis of corpus callosum, Compulsive behaviors, Abnormal rep... OMIM:613174
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Infantile spasms, Aggressive behavior, Tremor, Inability... ORPHA:72
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Seizure, Abnormal repetitive mannerisms OMIM:610883
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema ORPHA:70587
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure, Athetosis, Focal imp... ORPHA:369929
Cholera
Abnormality of renal excretion, Hypoglycemia, Achlorhydria, Dehydration, Acute kidney injury, Dec... ORPHA:173
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H... ORPHA:447997
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Ataxia, Aggressive behavior, Unsteady gait, Seizure, Lateral ventricle dilatation, ... ORPHA:457279
Leprechaunism
Hepatomegaly, Enlarged ovaries, Rectal prolapse, Long penis, Insulin resistance, Hypercalciuria, ... ORPHA:508
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Jaundice, Hepatosplenomegaly ORPHA:33574
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Aplasia/Hypoplasia of the ... ORPHA:2470
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxi... OMIM:617193
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Appendicular spasticity, Cerebral palsy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic sei... OMIM:620070
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... OMIM:619835
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cryptorchidism, Patent ductus arterio... ORPHA:96191
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Attention defici... ORPHA:435638
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Abnormal repetitive mannerisms, Agenesis of corpus callosum ORPHA:261144
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Myelopathy, Inability to walk... ORPHA:139396
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Glucose-Galactose Malabsorption
Hematuria, Renal insufficiency, Nephrolithiasis, Dehydration ORPHA:35710
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... OMIM:231680
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, ... OMIM:616026
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Hyperaldosteronism, Dehydration OMIM:177735
Weaver Syndrome
Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin... OMIM:277590
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Dehydration OMIM:620126
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Glutaric aciduria, Lacticaciduria, 3-Methylglutar... ORPHA:26791
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Malabsorption, Cryptorchid... ORPHA:534
Lamellar Ichthyosis
Renal insufficiency, Dehydration ORPHA:313
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Dehydration OMIM:620125
48,Xxyy Syndrome
Ataxia, Tremor, Seizure, Type II diabetes mellitus, Attention deficit hyperactivity disorder, Abn... ORPHA:10
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Bilateral tonic-clonic seizure ORPHA:238769
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia ORPHA:369840
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Melas
Diabetes mellitus, Bilateral tonic-clonic seizure, Abnormal central motor function, Ataxia, Focal... ORPHA:550
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Aggressive behavior, Seizure, Self-injurious behavior, Abnormal... ORPHA:449291
Galactosemia I
Hepatomegaly, Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, C... OMIM:230400
Snijders Blok-Campeau Syndrome
Speech apraxia, Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Attention d... OMIM:618205
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria OMIM:604273
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephrocalcinosis, Renal tubular acidos... OMIM:613404
Macrocephaly-Developmental Delay Syndrome
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with generalized slow activity ORPHA:397612
Ogden Syndrome
Abnormal head movements, Torticollis, Hypertonia, Shuffling gait ORPHA:276432
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Seizure, Cerebellar hypoplasia, Abnormal repetitive mannerisms, Cerebellar dys... ORPHA:500159
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, Ab... OMIM:618342
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Aggressive behavior, Tonic seizure, Self-injurious behavior, Lateral ventricle dil... OMIM:620075
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri... ORPHA:210122
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms ORPHA:3306
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Paraplegia, Seizure, Agitation, Abnormal repetitive mannerisms ORPHA:927
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Organic aciduria OMIM:617184
Coffin-Siris Syndrome 6
Seizure, Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Hyperaldosteronism, Elevated stool chloride content, Dehydration OMIM:214700
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Netherton Syndrome
Hypernatremic dehydration, Villous atrophy, Angioedema, Recurrent infection of the gastrointestin... OMIM:256500
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Atelecta... OMIM:610978
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Seizure, Abnormal repetitive mannerisms ORPHA:529965
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst ORPHA:2357
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Head-banging, Chiari type I malformation, Seizure, Lateral ventricle dilatation, S... OMIM:619575
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Mult... ORPHA:369837
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Glass Syndrome
Restlessness, Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavio... OMIM:612313
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, EEG abnormality, Seizure, Athetosis, Bruxism, Spasticity, Apraxia, Abno... OMIM:613454
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Recurrent bron... OMIM:244400
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Hydrocephalus, Tetraplegia, Seizure, Cerebellar hypoplasia, Gener... OMIM:257300
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Chorea, Seizure, Athetosis, Hypertonia, Self-mutilation ORPHA:52503
Bartter Syndrome Type 4
Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abi... ORPHA:89938
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Seizure, Bilateral tonic-clonic seizure, Hypoglycemia OMIM:620300
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Clumsiness, Seizure, Progressive gait ataxi... OMIM:105830
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Organic aciduria, Pancreatitis ORPHA:431361
Bilateral Perisylvian Polymicrogyria
EEG with polyspike wave complexes, EEG with parietal focal spikes, Lower limb spasticity, Cerebel... ORPHA:98889
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia ORPHA:6
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
47,Xyy Syndrome
Hyperactivity, Impulsivity, Hydrocephalus, Seizure, Attention deficit hyperactivity disorder, Dys... ORPHA:8
Sandhoff Disease
Exaggerated startle response, Bilateral tonic-clonic seizure, Ataxia, Impaired temperature sensat... OMIM:268800
Harlequin Ichthyosis
Dehydration ORPHA:457
Alazami Syndrome
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... ORPHA:319671
Childhood Disintegrative Disorder
Seizure, Abnormal repetitive mannerisms ORPHA:168782
Brain-Lung-Thyroid Syndrome
Hyperactivity, Incoordination, Ataxia, Involuntary movements, Abnormal eating behavior, Chorea, A... ORPHA:209905
Pilarowski-Bjornsson Syndrome
Speech apraxia, Seizure, Abnormal repetitive mannerisms OMIM:617682
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Aminoaciduria, Diabetes mellitus, Gastroesophageal reflux OMIM:249270
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... OMIM:614207
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Com... ORPHA:401777
Meconium Aspiration Syndrome
Atelectasis, Pneumothorax, Aspiration pneumonia ORPHA:70588
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... OMIM:619121
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Hyperhidrosis, Neonatal death OMIM:245400
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Aggressive behavior, Seizure, Hypertonia, Gait disturbance, Att... OMIM:300352
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Aciduria OMIM:617950
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic... ORPHA:79351
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... OMIM:613070
X-Linked Adrenoleukodystrophy
Hyperactivity, Incoordination, Somatic sensory dysfunction, Paralysis, Aggressive behavior, Parap... ORPHA:43
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Cerebellar vermis hypoplasia, Bilateral tonic-clonic ... OMIM:620024
Pelger-Huet Anomaly
Seizure, Lower limb hypertonia, Bilateral tonic-clonic seizure OMIM:169400
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Polyuria, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Hype... OMIM:241200
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... ORPHA:33543
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Chiari type I malformation, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Microvesicular hepatic steatosis, Lacticaciduria, Gastroesophageal reflux, Macroves... OMIM:615595
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Seizure, Self-injurious behavior, Compulsive beh... OMIM:617061
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypoplasia of the pons, Seizure, Chiari malformation, Attention deficit hyperactivity disorder, A... OMIM:619293
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Seizure, Gait disturba... ORPHA:247262
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Renal insufficiency, Hypoglycemia, Orchitis, Jaundice,... ORPHA:99826
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Gen... OMIM:614756
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Cholangitis, Retroperitoneal fibrosis, Facial ede... ORPHA:449432
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Celiac disease, Gastrointestinal dysmotili... ORPHA:293987
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus OMIM:618314
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Dehydration, Hyperhidrosis, Dysphagia, Myoglobinuria, Acute ki... ORPHA:94093
White-Sutton Syndrome
Cerebellar atrophy, Hyperactivity, Incoordination, Aggressive behavior, Hypoplasia of the pons, S... ORPHA:468678
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Hor... ORPHA:444077
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Retinal dysplasia, Cerebellar dysplasia OMIM:601374
Warburg Micro Syndrome 3
Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk, Spastic tetraplegia, My... OMIM:614222
Tiglic Acidemia
Aminoaciduria OMIM:275190
Dermotrichic Syndrome
Aminoaciduria, Aganglionic megacolon, Hypohidrosis ORPHA:99688
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Diffuse cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Hepatic steatosis, Hypoketotic hypog... OMIM:255120
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Chiari type I malformation, Seizure, Choreoathetosis, Attention deficit hyperacti... ORPHA:261197
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... OMIM:259900
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Wilson Disease
Edema, Pedal edema, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Atypical ... OMIM:277900
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... ORPHA:30
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myelopathy, Focal motor seizure, Seizur... ORPHA:79241
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse... OMIM:617798
Lipoyltransferase 1 Deficiency
Alaninuria, Hyperglutaminuria, Lacticaciduria OMIM:616299
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Dicarboxylic aciduria, Hypoglycemia, Cerebral edema OMIM:611126
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Smith-Magenis Syndrome
Impaired pain sensation, Seizure, Self-injurious behavior, EEG abnormality, Gait disturbance, Att... ORPHA:819
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms, Self-mutilatio... OMIM:123450
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... OMIM:615474
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Babinski sign, Limb hypertonia ORPHA:423479
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Long penis, Prim... ORPHA:90794
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia,... OMIM:278800
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Functional abnormali... ORPHA:223
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, Seizure, Obsessive-compulsive trait, Abnormal repetitive mannerisms OMIM:617796
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, ... OMIM:251880
Argininemia
Cerebellar atrophy, Hyperactivity, Anorexia, Seizure, Progressive spastic quadriplegia, Spastic p... OMIM:207800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal repetitive ... ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Partial absence of cerebellar vermis, Seizure, Cerebellar hypoplasi... OMIM:613150
Phenylketonuria
Aminoaciduria ORPHA:716
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Clumsiness, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... OMIM:615656
Bainbridge-Ropers Syndrome
Inability to walk, Seizure, Lateral ventricle dilatation, Self-injurious behavior, Hypertonia, In... OMIM:615485
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis ORPHA:2902
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Nasal polyposis, Peribronchovascular interstitial thickening,... ORPHA:244
Atypical Werner Syndrome
Renal neoplasm, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia,... ORPHA:79474
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Gait ataxia, Seizure, Hypertoni... ORPHA:255210
22Q11.2 Duplication Syndrome
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... ORPHA:1727
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypertonia, Bilateral tonic-clonic seizure ORPHA:79350
Hyperlysinemia
Hyperactivity, Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetrapar... ORPHA:2203
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hypera... ORPHA:476126
Megalocornea-Intellectual Disability Syndrome
Seizure, Abnormal repetitive mannerisms, Ataxia, EEG abnormality ORPHA:2479
Coffin-Siris Syndrome 7
Hyperactivity, Severe temper tantrums, Chiari type I malformation, Compulsive behaviors, Abnormal... OMIM:618027
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Polyuria, Hypertonic dehydration OMIM:304800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Clonic seizure, Hypertonia, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, I... OMIM:619475
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria, Dysphagia OMIM:614707
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... ORPHA:513456
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Hyperin... ORPHA:71212
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Seizure, Hypertonia, Cerebellar hypoplasia, Abnormal repetiti... OMIM:212066
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure OMIM:600092
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... ORPHA:522077
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... OMIM:619297
Microcephaly 29, Primary, Autosomal Recessive
Seizure, Hyperactivity, Enlarged cerebellum, Ataxia OMIM:620047
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic... OMIM:252160
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spast... OMIM:618426
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Seizure, Neonatal hypoglycemia, Ac... ORPHA:66634
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Poor coordination, Generalized non-motor (ab... ORPHA:466943
Myotubular Myopathy With Abnormal Genital Development
Bilateral cryptorchidism, Atelectasis, Unilateral cryptorchidism OMIM:300219
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca... OMIM:301044
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... ORPHA:79102
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Palpebral edema, Cryptorchidism, Jaundice, Cleft p... OMIM:214110
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Microvesicular hepatic steatosis, J... OMIM:617156
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Hypoglycemic seizures, Self-injurious behavior... OMIM:616364
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,... OMIM:620066
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Hypoplastic nipples OMIM:273400
Colchicine Poisoning
Renal insufficiency, Oliguria, Dehydration ORPHA:31824
Sialidosis Type 1
Splenomegaly, Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialy... ORPHA:812
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, R... ORPHA:228308
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Speech apraxia, Pain insensitivity, Cerebellar vermis hypoplasia, Ataxia, Bro... OMIM:617330
Kleefstra Syndrome
Aggressive behavior, Seizure, Agenesis of corpus callosum, Self-injurious behavior, Abnormal repe... ORPHA:261494
W Syndrome
Spasticity, Bilateral tonic-clonic seizure ORPHA:2804
Lysinuric Protein Intolerance
Hepatomegaly, Proteinuria, Glomerulonephritis, Decreased response to growth hormone stimulation t... ORPHA:470
Niemann-Pick Disease, Type C2
Ataxia, Seizure, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms OMIM:607625
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycem... OMIM:229600
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Br... OMIM:620330
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Fumarase Deficiency
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Polyhydr... OMIM:606812
Crome Syndrome
Seizure, Cerebellar dysplasia OMIM:218900
Hermansky-Pudlak Syndrome 10
EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Mitochondrial Complex I Deficiency, Nuclear Type 26
Lacticaciduria, Dysphagia OMIM:618247
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Incoordination, Impaired pain sensation, Gait ataxia, Abnormal repetitive mannerisms, Overfriendl... OMIM:616579
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Neonatal deat... OMIM:605711
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Impaired pain sensation, Tongue thrusting, Unsteady gait, ... OMIM:606232
Hartsfield Syndrome
Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Lobar holoprosencephaly, Agenesis of co... OMIM:615465
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Spasticity OMIM:301040
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy OMIM:612075
Nmda Receptor Encephalitis
Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset seizure, Hypersexuality, ... ORPHA:217253
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Type I diabetes mellitus, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... ORPHA:3044
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... ORPHA:466950
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Hypoglycemia, Babinski sign, Tongue f... OMIM:252010
Citrullinemia, Classic
Hepatomegaly, Oroticaciduria, Cerebral edema, Cirrhosis OMIM:215700
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Impulsivity, Unilateral vocal cord paralysis, Seizure, Attention deficit hype... OMIM:301030
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Aciduria, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundice, 3-Met... OMIM:203700
Prader-Willi Syndrome Due To Translocation
Head-banging, Seizure, Lateral ventricle dilatation, Compulsive behaviors, Attention deficit hype... ORPHA:177907
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated... ORPHA:653
Argininosuccinic Aciduria
Hepatomegaly, Aminoaciduria, Hepatic fibrosis, Oroticaciduria, Cerebral edema OMIM:207900
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Bilateral tonic-clonic seizure, Gait ataxia, Cerebellar hypoplasia, ... ORPHA:457359
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Seizure, EEG abnormality, Attention deficit hyperactivity disorder, Abno... OMIM:619005
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Type I diabetes mellitus, Bilateral tonic-clonic seizure ORPHA:436159
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Aminoaciduria, Hyperlysinuria, Orotic... OMIM:222700
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Typical absence se... ORPHA:268261
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Olivopontocerebellar hypoplasia, Hydrocephalus, Seizure, Agenesis of corpus callosum ORPHA:457284
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Hydrocephalus, Unsteady gait, Polyphagia, Dysm... ORPHA:96121
Kleefstra Syndrome 1
Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
2Q37 Microdeletion Syndrome
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... ORPHA:1001
Hallermann-Streiff Syndrome
Choreoathetosis, Hyperactivity, Bilateral tonic-clonic seizure, Spina bifida OMIM:234100
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Absent outer dynein arms, Pulmonary artery stenosis, Atelectasi... OMIM:615067
Cocaine Intoxication
Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse... ORPHA:90068
Leigh Syndrome
Hypoglycemia, Gastrointestinal dysmotility, Lacticaciduria, Methylmalonic aciduria, Generalized a... ORPHA:506
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Seizure, Decreased nerve conduction velocity, Bilateral tonic-clonic seizure OMIM:261515
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Organic aciduria, High palate OMIM:620191
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Inability to walk, Increased theta f... ORPHA:459070
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, A... OMIM:234200
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Multifocal seizures, Hypoglycemia, Aggressive behavior, EEG with ... OMIM:301066
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure, Resting tremor, Dysphagia ORPHA:319213
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Protruding tongue, High, narrow palat... OMIM:214100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia, Ce... OMIM:236670
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Gastroesophageal reflux, Methylmalonic aciduria, Hyperhidrosis OMIM:612073
Pitt-Hopkins Syndrome
Incoordination, Gait ataxia, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:610954
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... OMIM:620233
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic... OMIM:614946
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hemiparesis, Paraparesis, Bilateral tonic-clonic seizure, Paraplegia ORPHA:79124
Monosomy 22Q13.3
Hyperactivity, Impaired pain sensation, Hair-pulling, Seizure, Bruxism, Agenesis of corpus callos... ORPHA:48652
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, A... OMIM:614947
Combined Oxidative Phosphorylation Deficiency 3
Tremor, Seizure, Bilateral tonic-clonic seizure, Ataxia OMIM:610505
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Impulsivity, Aggressive behavior... ORPHA:580
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Protein-losing enteropathy, Elevated hepat... OMIM:619991
Webb-Dattani Syndrome
Spasticity, Bilateral tonic-clonic seizure OMIM:615926
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Type I d... ORPHA:488618
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria OMIM:618811
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, D... OMIM:615873
Gaucher Disease
Bilateral tonic-clonic seizure, Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Oculomotor... ORPHA:355
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Myoclonic seizure, Gait ataxia, Seizure, Violen... OMIM:280000
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections ORPHA:2314
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Hydroxykynureninuria
Hypertonia, Abnormal repetitive mannerisms ORPHA:79155
Interstitial Lung And Liver Disease
Hepatomegaly, Hypothyroidism, Cholestasis, Aminoaciduria, Hepatic fibrosis, Cirrhosis, Hepatic st... OMIM:615486
Tuberous Sclerosis Complex
Epileptic spasm, Hyperactivity, Infantile spasms, Aggressive behavior, Impulsivity, Focal-onset s... ORPHA:805
Biotinidase Deficiency
Splenomegaly, Hepatomegaly, Organic aciduria OMIM:253260
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenos... OMIM:617913
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Inability to walk, Opisthotonus, Seizure, Hypertonia, Abnormal repetit... ORPHA:508533
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylothorax, Emphysema, Pulmonary ly... ORPHA:538
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Seizure, Dysphagia, Abnormal repetitive mannerisms ORPHA:319182
Ogden Syndrome
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Maternal diabetes, Hypert... OMIM:300855
Cutis Laxa, Autosomal Recessive, Type Ic
Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasia, Emphysema, Peri... OMIM:613177
Farber Disease
Atelectasis, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT ORPHA:333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Cerebellar hypoplasi... OMIM:253280
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Aminoaciduria, Hypoglycemia, Neonatal hypoglycemia OMIM:619055
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Simple febrile seizure, Seizure, Gait disturbance, Attention deficit hyperactivity disorder, Abno... ORPHA:464311
1P36 Deletion Syndrome
Hemiplegia/hemiparesis, Polyphagia, Seizure, Self-injurious behavior, Agenesis of corpus callosum... ORPHA:1606
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria OMIM:253270
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Seizure, Gait disturbance, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:464306
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Patent ductus arteriosus, Cleft palate, Aminoaciduria, Organic aciduria, Galactos... ORPHA:85276
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... ORPHA:649
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Self-in... ORPHA:353281
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Splenomegaly, Aminoaciduria OMIM:616084
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Seizure, Self-in... OMIM:612474
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Broad-based gait, Exaggerated startle response, Involuntary movements, Inability... ORPHA:438213
Holocarboxylase Synthetase Deficiency
Organic aciduria ORPHA:79242
Doors Syndrome
Small cerebellar cortex, Bilateral tonic-clonic seizure, EEG abnormality, Focal impaired awarenes... ORPHA:79500
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Facial palsy, Optic nerve hypoplasia, Abnormal optic disc morphology, Retinal coloboma, Abnormal ... ORPHA:508498
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria ORPHA:23
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Oroticaciduria, Hepatitis ORPHA:415
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Short-Rib Thoracic Dysplasia 12
Atelectasis, Hypoplastic nipples, Pulmonary hypoplasia OMIM:269860
Sotos Syndrome
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Poor c... ORPHA:821
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... ORPHA:261537
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Poor coordination, Spastic diplegia, Seizure, Abnormal repetitive mannerisms OMIM:309590
Orotic Aciduria
Hematuria, Oroticaciduria, Orotic acid crystalluria OMIM:258900
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections ORPHA:258
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Seizure, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Wolf-Hirschhorn Syndrome
Hydrocephalus, Seizure, Agenesis of corpus callosum, EEG abnormality, Abnormal repetitive mannerisms OMIM:194190
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia OMIM:306400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis OMIM:618278
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces ORPHA:536467
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis, Oroticaciduria, Dysphagia OMIM:616457
Mowat-Wilson Syndrome
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Impaired p... ORPHA:2152
Chand Syndrome
Atelectasis ORPHA:1401
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... ORPHA:261552
Arboleda-Tham Syndrome
Seizure, Lower limb hypertonia, Gait imbalance, Dysphagia, Abnormal repetitive mannerisms OMIM:616268
Coffin-Siris Syndrome 12
Enlarged cerebellum, Noncommunicating hydrocephalus, Seizure, Chiari malformation, Abnormal repet... OMIM:619325
Kabuki Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Hydrocephalus, Seizure, Lateral ventricle dilata... OMIM:147920
Primrose Syndrome
Restlessness, Diabetes mellitus, Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, G... OMIM:259050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Oroticaciduria, Dysphagia OMIM:620358
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... ORPHA:91500
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Cerebral edema OMIM:311250
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... OMIM:309000
Zygomycosis
Acute infectious pneumonia, Atelectasis, Pleural effusion, Pneumothorax ORPHA:73263
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Difficulty walking OMIM:618653
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Atelectasis, Cryptorchidism, Abnormal lung lobation, Hypoplasia of the thymus... ORPHA:567
Alkaptonuria
Joint swelling, Aminoaciduria, Prostatitis, Nephrolithiasis ORPHA:56
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Abnor... OMIM:619522
Digeorge Syndrome
Parathyroid agenesis, Atelectasis, Recurrent pneumonia, Parathyroid hypoplasia, Hydrocele testis,... OMIM:188400
Xeroderma Pigmentosum
Cryptorchidism, Aminoaciduria, Decreased testicular size ORPHA:910
Relapsing Polychondritis
Atelectasis ORPHA:728
Kanzaki Disease
Increased urinary O-linked sialopeptides, Aminoaciduria, Lymphedema OMIM:609242

Histopathology

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

There is no histopathology data for Neurod1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Neurod1.

No publications found that use IMPC mice or data for Neurod1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Neurod1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Neurod1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter