Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Arx MGI:1097716

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

aristaless related homeobox

Synonyms:

Arx1

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 Arx 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.

Human diseases associated with Arx (11 diseases)
Human diseases predicted to be associated with Arx (1643 diseases)

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

Disease	Matching phenotypes	Source
Infantile Spasms Syndrome	Myoclonus, Infantile spasms	ORPHA:3451
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome	Rigidity, Hypertonia, Status epilepticus, Hemiplegia, Spasticity	ORPHA:3175
Developmental And Epileptic Encephalopathy 1	Infantile spasms, Tonic seizure, Spastic tetraparesis, EEG with burst suppression, Focal-onset se...	OMIM:308350
Lissencephaly, X-Linked, 2	Lissencephaly, Ambiguous genitalia, Micropenis, Pachygyria, Agenesis of corpus callosum, Decrease...	OMIM:300215
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Hypoplasia of penis, Microcephaly, Cryptorchidism, Ambiguous genitalia, Pachygy...	ORPHA:452
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Hypospadias, Microcephaly	ORPHA:2508
Early Infantile Epileptic Encephalopathy	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Foca...	ORPHA:1934
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Cryptorchidism, Agenesis of corpus callosum, Hypospadias, Microcephaly	OMIM:300004
Partington Syndrome	Lower limb spasticity, Gait disturbance, EEG abnormality	ORPHA:94083
Partington Syndrome	EEG abnormality, Seizure, Lower limb spasticity, Infantile spasms	OMIM:309510
Intellectual Developmental Disorder, X-Linked 29	Seizure, Babinski sign	OMIM:300419

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

Disease	Matching phenotypes	Source
Geniospasm 1	Chin myoclonus	OMIM:190100
Myoclonus, Familial, 2	Limb myoclonus	OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Infantile Spasms Syndrome	Myoclonus, Infantile spasms	ORPHA:3451
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Seizure, Myoclonus	OMIM:217200
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus	OMIM:208700
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure	OMIM:611092
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication	OMIM:314250
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive...	OMIM:300088
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co...	ORPHA:401901
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s...	OMIM:617113
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Depression, Seizure, Dem...	OMIM:162350
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Cognitive impairment, Atypical absence se...	OMIM:300388
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Landau-Kleffner Syndrome	Gait ataxia, Non-convulsive status epilepticus without coma, Hyperactivity, Bilateral tonic-cloni...	ORPHA:98818
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire...	OMIM:615400
Myoclonus-Dystonia Syndrome	Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus	ORPHA:36899
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Depression, Dementia, Abnormality of...	OMIM:204300
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor	ORPHA:86814
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Confusion, Tremor, Focal-onset seizure, Babinski sign, De...	OMIM:615362
Continuous Spikes And Waves During Sleep	Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc...	ORPHA:725
Epilepsy, Progressive Myoclonic 7	Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epileptiform discharges, Myo...	OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Restlessness, Bilateral tonic-clonic seizure, Clumsiness, Irritability, EEG abnormality, Focal im...	OMIM:610003
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv...	ORPHA:101039
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Lissencephaly 10	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:618873
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
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
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Agg...	ORPHA:86909
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Creutzfeldt-Jakob Disease	Extrapyramidal muscular rigidity, Confusion, Depression, Gait ataxia, Irritability, Hemiparesis, ...	OMIM:123400
Polymicrogyria, Bilateral Temporooccipital	Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Status epilepticus, Focal i...	OMIM:612691
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ...	OMIM:254800
Dystonia 15, Myoclonic	Myoclonus	OMIM:607488
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h...	OMIM:604213
Lennox-Gastaut Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental d...	ORPHA:2382
Epilepsy, Progressive Myoclonic, 12	Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Depression, Myoclonus, Attention deficit hyper...	OMIM:619191
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, EEG abnormality, Stat...	OMIM:617171
Myoclonic-Atonic Epilepsy	Ataxia, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic ...	OMIM:616421
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:601820
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions	OMIM:618830
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple...	OMIM:613721
Isolated Focal Cortical Dysplasia	Psychomotor deterioration, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic sei...	ORPHA:65683
Stxbp1-Related Encephalopathy	Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil...	ORPHA:599373
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Bilateral tonic-clonic seizure, Impaired ability to form peer relationships...	OMIM:608636
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Dementia, Abnormality of extrapyram...	ORPHA:79262
Rolandic Epilepsy	Short attention span, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal ...	ORPHA:1945
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus	OMIM:125370
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Myoclonic seizure...	OMIM:615006
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra...	ORPHA:95434
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, 8	Bilateral tonic-clonic seizure, Progressive neurologic deterioration, EEG with photoparoxysmal re...	OMIM:616230
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy...	OMIM:619970
Developmental And Epileptic Encephalopathy 56	Ataxia, Generalized non-motor (absence) seizure, Focal motor seizure, Myoclonic seizure, Seizure,...	OMIM:617665
Epilepsy, Progressive Myoclonic, 11	Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor	OMIM:618876
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Dystonia 11, Myoclonic	Tremor, Torticollis, Myoclonus	OMIM:159900
Intellectual Developmental Disorder, Autosomal Recessive 64	Aggressive behavior, Slurred speech, Seizure, Hypertonia, Impaired social interactions, Spasticity	OMIM:618103
Lissencephaly, X-Linked, 1	Death in infancy, Gray matter heterotopia, Lissencephaly, Micropenis, Pachygyria, Agenesis of cor...	OMIM:300067
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Abnormality of neuronal migration, Seizure, Attention deficit hyperactivity disorder, Abn...	OMIM:618709
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
Paroxysmal Exertion-Induced Dyskinesia	Ataxia, Aggressive behavior, Chorea, Generalized non-motor (absence) seizure, Choreoathetosis, Se...	ORPHA:98811
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu...	OMIM:614018
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Epilepsy, Nocturnal Frontal Lobe, 2	Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior, Depression	OMIM:603204
Benign Familial Infantile Epilepsy	Psychomotor deterioration, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:306
Epilepsy, Familial Adult Myoclonic, 1	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener...	OMIM:601068
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy...	ORPHA:101029
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Tonic seiz...	OMIM:617389
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generaliz...	ORPHA:36387
Juvenile Myoclonic Epilepsy	Generalized-onset seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, Generalized ...	ORPHA:307
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic...	OMIM:616346
Familial Focal Epilepsy With Variable Foci	Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa...	ORPHA:98820
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Generalized non-motor (...	OMIM:619157
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG...	OMIM:613608
Hereditary Geniospasm	Chin myoclonus, Intention tremor	ORPHA:53372
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse...	ORPHA:208441
Juvenile Huntington Disease	Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Depression, Gait ataxia, Irritability,...	ORPHA:248111
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S...	ORPHA:33069
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Microcephaly 9, Primary, Autosomal Recessive	Impulsivity, Aggressive behavior, Simplified gyral pattern, Seizure, Self-injurious behavior, Com...	OMIM:614852
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur...	OMIM:617831
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Hand tremor...	OMIM:608105
Symmetrical Thalamic Calcifications	Ataxia, Abnormality of neuronal migration, EEG abnormality, Hypertonia, Cognitive impairment, Spa...	ORPHA:1314
Intellectual Developmental Disorder, Autosomal Recessive 66	Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Shyness	OMIM:618221
Huntington Disease	Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Depre...	ORPHA:399
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (...	OMIM:607682
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive...	OMIM:604317
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Speech apraxia, Short attention span, Bilateral tonic-clonic seizure with focal onset, Focal-onse...	ORPHA:163721
Hyperphenylalaninemia, Bh4-Deficient, C	Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Seizure, Hypertonia,...	OMIM:261630
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus	OMIM:619647
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g...	ORPHA:263516
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Lower limb spasticity, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, ...	OMIM:619639
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, My...	OMIM:616409
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh...	ORPHA:275864
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3...	OMIM:616366
Unilateral Focal Polymicrogyria	EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit...	ORPHA:268947
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Seizure, Myoclonus, ...	OMIM:605899
Glut1 Deficiency Syndrome 1	Ataxia, Confusion, Paralysis, Babinski sign, Choreoathetosis, EEG abnormality, Seizure, Hemipares...	OMIM:606777
Diabetes Mellitus, Transient Neonatal, 1	Intrauterine growth retardation, Hyperglycemia, Dehydration, Transient neonatal diabetes mellitus	OMIM:601410
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal...	ORPHA:500166
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Intellectual Developmental Disorder, Autosomal Recessive 37	Seizure, Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ...	OMIM:618587
Lissencephaly 3	Agyria, Periventricular laminar heterotopia, Microcephaly, Gray matter heterotopia, Lissencephaly...	OMIM:611603
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Frontotemporal dementia, Babinski sign, Inappropriat...	OMIM:600795
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ...	OMIM:616981
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul...	OMIM:607876
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ...	ORPHA:101071
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Aggressive behavior, Babinski sign, Euphoria, Frontal lobe dementia, EEG abnormality, Seizure, In...	OMIM:221770
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor	OMIM:617863
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu...	ORPHA:2590
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Bruxism...	ORPHA:561854
Epilepsy, Familial Temporal Lobe, 5	Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal...	OMIM:614417
Ceroid Lipofuscinosis, Neuronal, 1	Psychomotor deterioration, Ataxia, Depression, EEG abnormality, Irritability, Seizure, Myoclonus,...	OMIM:256730
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Mental ...	OMIM:615924
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen...	OMIM:617542
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Seizure, Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Spinocerebellar Ataxia 17	Broad-based gait, Ataxia, Confusion, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysphag...	OMIM:607136
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp...	OMIM:616139
Developmental And Epileptic Encephalopathy 59	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Multifocal epileptiform ...	OMIM:617904
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements	OMIM:618425
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized non-motor...	OMIM:271980
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Hartnup Disorder	Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional labi...	OMIM:234500
Developmental And Epileptic Encephalopathy 98	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with burst s...	OMIM:619605
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus, Fai...	OMIM:609056
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity	OMIM:545000
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Mental deterioration, EEG with foc...	ORPHA:140927
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Hsd10 Disease	Short attention span, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Gait disturb...	ORPHA:391417
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp...	ORPHA:139431
Spinocerebellar Ataxia 48	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, D...	OMIM:618093
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Abnormal nervous system electrophysiology, D...	OMIM:256731
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Motor seizure, Infantile spasms, Gray matter heterotopia, Seizure, Pachygyria, Agyria	ORPHA:1084
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Short attention span, Bilateral tonic-clonic seizure with generalized onse...	OMIM:619028
Nodular Neuronal Heterotopia	Seizure, Abnormality of neuronal migration	ORPHA:2149
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus	ORPHA:22
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Confusion, Paralysis, Chorea, Choreoathetosis, EEG abnormality, Seizure, Hypertonia, Stat...	ORPHA:71277
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a...	OMIM:620145
Ceroid Lipofuscinosis, Neuronal, 8	Seizure, Ataxia, Myoclonus	OMIM:600143
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	EEG with polyspike wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo...	OMIM:607317
Infantile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Generalized-onset seizure, Ataxia, Tremor, Chorea, Dysmetria, Clumsin...	ORPHA:79263
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Parkinsonism, Seizure, Dementia, Hypertonia, Semantic dementia, Myoclonus, Apr...	ORPHA:1020
Episodic Ataxia, Type 5	Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo...	ORPHA:254343
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Epileptic spasm, Ataxia, EEG with burst suppression, Spastic tetraplegia, Seizure, Myoclonus, Att...	OMIM:619971
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, EEG with generalize...	ORPHA:168491
Microcephaly, Seizures, And Developmental Delay	Seizure, Hyperactivity, Ataxia, Simplified gyral pattern	OMIM:613402
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Mitochondrial Complex I Deficiency, Nuclear Type 12	Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis, Seizure, Dementia, Myoclonus, Generalize...	OMIM:301020
Lipoid Proteinosis Of Urbach And Wiethe	Memory impairment, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior	OMIM:247100
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Seizure, Hyperactivity, Abnormal social behavior	ORPHA:436151
Rasmussen Subacute Encephalitis	EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se...	ORPHA:1929
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior	OMIM:617709
Combined Saposin Deficiency	Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations	OMIM:611721
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Early Myoclonic Encephalopathy	Infantile spasms, Focal seizure with eyelid myoclonia, Focal motor seizure, Focal tonic seizure, ...	ORPHA:1935
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c...	OMIM:614019
Sandhoff Disease, Adult Form	Tremor, Gait ataxia, Fasciculations, Dysphagia, Mental deterioration, Spasticity	ORPHA:309169
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythm...	OMIM:613722
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro...	OMIM:612736
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Epileptic spasm, Inability to walk, Chorea, Myoclonic seizure, Seizure, Self-injurious behavior, ...	OMIM:614254
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Dysp...	OMIM:607346
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Babinski sign, EEG abnormality, Seizure, Dementia, Disinhibition, Myoclonus, Apraxia, Memory impa...	OMIM:618193
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Chorea, Gen...	ORPHA:485350
Alpers-Huttenlocher Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo...	ORPHA:726
Isolated Growth Hormone Deficiency, Type Ia	Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Periventricular Nodular Heterotopia 6	Seizure, Periventricular nodular heterotopia, Focal motor seizure, Infantile spasms	OMIM:615544
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Intellectual Developmental Disorder, X-Linked 72	Seizure, Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Spinocerebellar Ataxia 13	Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressi...	OMIM:605259
Tubulinopathy-Associated Dysgyria	Startle-induced seizure, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Atten...	ORPHA:467166
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Posttransplant Acute Limbic Encephalitis	Ataxia, Confusion, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, ...	ORPHA:163921
Ceroid Lipofuscinosis, Neuronal, 2	Seizure, Abnormal nervous system electrophysiology, Ataxia, Myoclonus	OMIM:204500
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa...	ORPHA:98810
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Aggressive behavior, Focal tonic seizure, Limb tremor, Seizure, Self-injurious behavior, Hyperton...	OMIM:300699
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Bilateral tonic-clonic seizure, Ataxia, Dysplastic corpus callosum, Seizure, Spasticity	OMIM:620317
Hyperinsulinism-Hyperammonemia Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure, Attention deficit hyperactivi...	ORPHA:35878
Pituitary Hormone Deficiency, Combined, 4	Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia	OMIM:262700
Short Stature Due To Partial Ghr Deficiency	Growth delay, Short stature, Hypoglycemia, Delayed puberty	ORPHA:314802
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Tremor, Dy...	ORPHA:254881
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Unilateral cryptorchidism, Agenesis of corpus callosum, Thin corpus callosum, Ven...	OMIM:618286
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Chorea, Seizure, Self...	ORPHA:382
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, EEG with burst suppression, Clonic seizure, Status epilepticus, G...	OMIM:266100
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ...	OMIM:610031
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po...	ORPHA:300573
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Seizure, Hyperactivity, Generalized-onset seizure, Irritability	OMIM:616657
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, M...	OMIM:617600
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Generalized-onset seizure, Infantile spasms, Myoclonic seizure, Lissencephaly, Periventricular ri...	OMIM:618677
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Hyperlysinemia, Type I	Seizure, Hyperactivity, Cognitive impairment, Short attention span	OMIM:238700
Dystonia 23	Torticollis, Myoclonus, Head tremor	OMIM:614860
Developmental And Epileptic Encephalopathy 57	Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure	OMIM:617771
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Developmental And Epileptic Encephalopathy 69	Inability to walk, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Hyperkinetic movements, ...	OMIM:618285
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s...	OMIM:609446
Cortical Malformations, Occipital	EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Kohlschutter-Tonz Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S...	OMIM:226750
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Agitation, Myoclonus, Compulsive behaviors, Failure to thrive	OMIM:619651
Microlissencephaly	Subcortical heterotopia, Bilateral tonic-clonic seizure with generalized onset, Periventricular h...	ORPHA:1083
Developmental And Epileptic Encephalopathy 19	Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai...	OMIM:615744
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Dysphagia,...	OMIM:614487
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Chorea, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence...	ORPHA:79137
Obesity, Hyperphagia, And Developmental Delay	Seizure, Abnormal repetitive mannerisms, Polyphagia, Generalized non-motor (absence) seizure	OMIM:613886
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ...	OMIM:617350
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Benign Familial Neonatal Epilepsy	Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure...	ORPHA:1949
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly	ORPHA:171703
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Seizure, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit h...	OMIM:620065
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Childhood-Onset Spasticity With Hyperglycinemia	Short attention span, Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady...	ORPHA:401866
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Emotional lability, Depression,...	OMIM:137440
Hemimegalencephaly	EEG with polyspike wave complexes, Interictal EEG abnormality, Epileptic spasm, EEG with burst su...	ORPHA:99802
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban...	ORPHA:363710
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Oral-pharyngeal dysp...	ORPHA:208447
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Seizure, Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ...	OMIM:616341
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Inability to walk, Periventricular nodular heterotopia, Spastic paraplegia	OMIM:618572
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Tremor, Dysphagia, Dementia, Myoclonus, Tongue fasciculations, Difficu...	OMIM:159950
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl...	OMIM:619301
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w...	OMIM:301008
Glycogen Storage Disease Vi	Postnatal growth retardation, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia	OMIM:232700
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Choreoathetosi...	OMIM:618497
Gaucher Disease, Type Iii	Ataxia, Progressive neurologic deterioration, Depression, Dementia, Myoclonus, Spastic paraparesi...	OMIM:231000
Dystonia 6, Torsion	Torticollis, Myoclonus	OMIM:602629
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, EEG abnormality, Myoclonus, Difficulty walking, Spasticity	OMIM:617829
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor	ORPHA:420485
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions	ORPHA:557003
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Atypical Rett Syndrome	Restrictive behavior, Involuntary movements, Infantile spasms, Tremor, Inability to walk, Tongue ...	ORPHA:3095
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co...	OMIM:619302
Facial Onset Sensory And Motor Neuronopathy	Paresthesia, Fasciculations, Dysphagia	ORPHA:85162
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, EEG with persistent abnormal rhythmic activity, Abnormal pyramidal sign, Gait ata...	ORPHA:282166
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure	OMIM:619031
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ...	OMIM:608716
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
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure	OMIM:618596
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Restlessness, Ataxia, Clonus, Rigidity, Chorea, Dysphagia, Depression, Opisthotonus, Seizure, Cho...	ORPHA:13
Mitochondrial Complex I Deficiency, Nuclear Type 31	Progressive neurologic deterioration, Dysmetria, Seizure, Myoclonus, Failure to thrive	OMIM:618251
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic stat...	OMIM:619913
Ceroid Lipofuscinosis, Neuronal, 3	Psychomotor deterioration, Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Dementia, Abnor...	OMIM:204200
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure	OMIM:617080
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Short attention span, Bilateral tonic-clonic seizure, Aggressive beh...	OMIM:300558
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Pachygyria, Bilateral tonic-clonic seizure, Lissencephaly	OMIM:614499
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradyphrenia, Lower limb spasticity, Short attention span, Ataxia, Impulsivity, Paraparesis, Orom...	OMIM:617854
Cerebellar Atrophy, Developmental Delay, And Seizures	EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:617643
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity, Steppage gait, Fasciculations, Distal sensory impairment	OMIM:606595
Short Stature Due To Ghsr Deficiency	Growth delay, Short stature, Hypoglycemia, Delayed puberty	ORPHA:314811
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, De...	ORPHA:99886
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome	Rigidity, Hypertonia, Status epilepticus, Hemiplegia, Spasticity	ORPHA:3175
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Dysmetria, Irritability, Seizure, Myoclonus, Truncal ataxia, Lethargy, F...	OMIM:250620
Microcephaly 16, Primary, Autosomal Recessive	Cryptorchidism, Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Developmental And Epileptic Encephalopathy 40	Small for gestational age, Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Lethargy, S...	OMIM:617065
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Spinocerebellar Ataxia, Autosomal Recessive 12	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Limb ataxia, Gait a...	OMIM:614322
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, EEG with burst suppression, Clonic seizure, Myoclo...	OMIM:617290
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Type II lissencephaly, Microcephaly, Hydroceph...	ORPHA:370959
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG a...	OMIM:618218
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ...	ORPHA:300570
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Aggressive behavior,...	ORPHA:199354
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
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
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo...	OMIM:618924
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Motor tics, Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwhee...	OMIM:619725
Corticobasal Syndrome	Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Oromotor apr...	ORPHA:454887
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Cognitive impairment, Spastic gait, Progr...	ORPHA:306511
Schizophrenia 15	Hyperactivity	OMIM:613950
Alexander Disease Type I	Hydrocephalus, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter morphology,...	ORPHA:363717
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Hyperactivity, Parkinsonism, Anorexia, A...	ORPHA:3077
Progressive Myoclonic Epilepsy With Dystonia	EEG with irregular generalized spike and wave complexes, Abnormal pyramidal sign, Hemiparesis, St...	ORPHA:352596
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul...	ORPHA:171680
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Hypsarrhythmia, Dementia, Abnormality ...	ORPHA:204
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Centralopathic Epilepsy	Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi...	OMIM:117100
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann...	OMIM:239500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Limb fasciculations, Steppage gait, Impaired temperature sensation, Impaired pain sensation	ORPHA:99940
Yoon-Bellen Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, H...	OMIM:619701
Periventricular Nodular Heterotopia 8	Seizure, Periventricular nodular heterotopia	OMIM:618185
Mitochondrial Complex I Deficiency, Nuclear Type 19	Rigidity, Inability to walk, Irritability, Athetosis, Seizure, Gait disturbance, Myoclonus, Loss ...	OMIM:618241
Intellectual Developmental Disorder With Seizures And Language Delay	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti...	OMIM:619000
Childhood Disintegrative Disorder	Social and occupational deterioration, Seizure, Dementia, Abnormal emotion, Progressive language ...	ORPHA:168782
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Involuntary movements, Increased thet...	ORPHA:98784
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Seizure, Self-injurious behavior, Hyperkinetic movements, Impaired social interactions, Stereotyp...	ORPHA:397933
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Seizure, G...	OMIM:605021
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abn...	OMIM:617862
Abeta Amyloidosis, Iowa Type	Dementia, Gait disturbance, Myoclonus, Dysphagia, Memory impairment	ORPHA:324708
Myoclonic-Astatic Epilepsy	Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si...	ORPHA:1942
Gerstmann-Straussler-Scheinker Syndrome	Dysesthesia, Gait ataxia, Dementia, Abnormality of extrapyramidal motor function, Paresthesia, Co...	ORPHA:356
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus	OMIM:619065
Developmental And Epileptic Encephalopathy 16	Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f...	OMIM:615338
Cach Syndrome	Premature ovarian insufficiency, Microcephaly, T2 hypointense thalamus, Cerebral atrophy, Seconda...	ORPHA:135
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure...	OMIM:611726
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Multifocal epile...	OMIM:617493
3Q13 Microdeletion Syndrome	Cryptorchidism, Hypoplasia of penis, Agenesis of corpus callosum	ORPHA:1621
Lafora Disease	Ataxia, Confusion, Hypsarrhythmia, Depression, Seizure, Focal sensory seizure with visual feature...	ORPHA:501
Dystonia 26, Myoclonic	Blepharospasm, Torticollis, Myoclonus	OMIM:616398
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset...	OMIM:610042
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ...	OMIM:619854
Juvenile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination...	ORPHA:79264
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception...	OMIM:616688
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Irrita...	ORPHA:101150
Pyridoxine-Dependent Epilepsy	Early onset absence seizures, Restlessness, Epileptic spasm, Focal-onset seizure, Seizure, Irrita...	ORPHA:3006
Oculocerebrocutaneous Syndrome	Cryptorchidism, Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the corpus callosum...	OMIM:164180
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Dysmetria, Gait a...	OMIM:618090
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, EEG abnormality, Generali...	OMIM:617836
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Ventriculomegaly	OMIM:619501
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Distal sensory impairment, Seizure, Dementia, Abnormality of extrapyramidal motor function, Myocl...	OMIM:604218
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, P...	OMIM:616521
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Abnormal neuro...	ORPHA:163681
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Abnormal cortical gyration, Chorea, Gait ataxia, P...	ORPHA:98756
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Limb hypertonia	ORPHA:324588
X-Linked Neurodegenerative Syndrome, Bertini Type	Death in infancy, Agenesis of corpus callosum	ORPHA:85334
Congenital Disorder Of Glycosylation, Type Iiy	Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:620200
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ...	OMIM:606693
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Polyhydramnios, Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia	OMIM:240900
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	OMIM:615637
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Microcephaly, Cryptorchidism, Death in childhood, Parietal cortical atrophy, Fr...	OMIM:618766
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor	OMIM:620158
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab...	OMIM:618482
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Dysmetria, Myocl...	OMIM:617810
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea...	ORPHA:442835
Masa Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, EEG ...	ORPHA:488635
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis	OMIM:104290
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Dysphagia, Seizure, Dementia, Abnormality of extrapyramidal ...	OMIM:607822
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Dysphagia, Spastic dysarth...	ORPHA:313772
Narp Syndrome	Ataxia, Babinski sign, Irritability, Progressive gait ataxia, Seizure, Dementia, Myoclonic spasms	ORPHA:644
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e...	OMIM:617711
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Chorea, Spast...	OMIM:618917
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive impairment...	OMIM:617284
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Hypoglycemia, Cryptorchidism, Dehydration, Intrauterine growth retardation	OMIM:618958
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Dehydration	ORPHA:79159
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Intellectual Developmental Disorder, Autosomal Dominant 5	Torticollis, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Myoclonic absence seizure	OMIM:612621
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Maternal Hyperthermia-Induced Birth Defects	Seizure, Abnormality of neuronal migration, Cognitive impairment	ORPHA:2216
Autosomal Recessive Primary Microcephaly	Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c...	ORPHA:2512
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Seizure, Hypertonia, Myoclonus, Failure to thrive	OMIM:610090
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl...	OMIM:620352
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis...	OMIM:615771
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic m...	OMIM:619738
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior	OMIM:309530
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Cryptorchidism, Simplified gyral pattern, Cerebral atrophy...	OMIM:619244
Hyperphenylalaninemia, Bh4-Deficient, B	Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, Seizure, H...	OMIM:233910
Spinocerebellar Ataxia, Autosomal Recessive 10	Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal ataxia, Intention tremor	OMIM:613728
Developmental And Epileptic Encephalopathy 1	Infantile spasms, Tonic seizure, Spastic tetraparesis, EEG with burst suppression, Focal-onset se...	OMIM:308350
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a...	OMIM:615859
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ...	OMIM:607745
Systemic Primary Carnitine Deficiency	Confusion, Bilateral tonic-clonic seizure with focal onset, Clumsiness	ORPHA:158
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h...	ORPHA:64280
Enteric Anendocrinosis	Type I diabetes mellitus, Cholestatic liver disease, Portal hypertension, Dehydration	ORPHA:83620
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia...	OMIM:619862
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Babinski sign, Focal tonic seizure, Myoclonic se...	OMIM:617105
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im...	OMIM:614436
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
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the corpus callosum, Primary microcep...	OMIM:617090
Pontocerebellar Hypoplasia Type 4	Seizure, Hypertonia, Myoclonus	ORPHA:166063
Hyperprolinemia Type 2	Early onset absence seizures, Short attention span, Generalized-onset seizure, Confusion, Aggress...	ORPHA:79101
Hemochromatosis, Neonatal	Hypoglycemia, Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, ...	OMIM:231100
Leukoencephalopathy With Vanishing White Matter 5	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,...	OMIM:620315
Familial Infantile Bilateral Striatal Necrosis	Failure to thrive, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathe...	ORPHA:225154
Thyrocerebrorenal Syndrome	Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia	ORPHA:3327
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, EEG w...	OMIM:617976
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Hypospadias, Cryptorchidism	OMIM:620135
Developmental And Epileptic Encephalopathy 47	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Multifocal epileptifo...	OMIM:617166
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia	ORPHA:67046
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Inability to walk, Seizure, Self-injurious behavior, Impaired social inter...	OMIM:617820
Intellectual Developmental Disorder, X-Linked 41	Generalized non-motor (absence) seizure	OMIM:300849
Cln3 Disease	Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Fo...	ORPHA:228346
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Lateral ventricle dilatation, Polymicrogyria, Micropenis	OMIM:300982
Congenital Disorder Of Glycosylation, Type In	Ataxia, Seizure, Myoclonus, Spasticity, Failure to thrive	OMIM:612015
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Progressive psyc...	ORPHA:363400
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Spastic paraparesis, Palatal tremor, Truncal ataxia	OMIM:113610
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity, Fasciculations, Difficulty walking	OMIM:615575
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz...	ORPHA:100988
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Subependymal Nodular Heterotopia	Interictal EEG abnormality, Focal-onset seizure, Partial agenesis of the corpus callosum, Limb my...	ORPHA:101030
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera...	OMIM:612016
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Focal-onset seizure, Chorea, EEG abnormality, Self-injurious behavior, Convulsive status epilepti...	OMIM:618760
Phosphoserine Aminotransferase Deficiency	Seizure, Hypertonia, Myoclonus	OMIM:610992
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei...	ORPHA:363558
Coasy Protein-Associated Neurodegeneration	Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal...	ORPHA:397725
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Myo...	OMIM:168601
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Ataxia, Abnormal eating behavior, Obsessive-compulsive trait, Eating-i...	ORPHA:544254
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:303350
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Simplified gyral pattern, Seizure, Abnormal repetitive manner...	OMIM:619470
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
Thyrocerebroretinal Syndrome	Seizure, Slurred speech, Ataxia, Myoclonus	OMIM:274240
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Peho-Like Syndrome	Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus, Hypsarrhythmia	OMIM:617507
Severe Canavan Disease	Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Babinski sign, Irritability, Seizure, ...	ORPHA:314911
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619616
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy	ORPHA:401820
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism, Leukoencephal...	OMIM:613724
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy	ORPHA:401830
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, A...	OMIM:616645
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia	OMIM:615158
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Abnormal repetitive mannerisms, Generalized non-motor (absence) seizure, Focal ...	ORPHA:411986
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par...	ORPHA:53583
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pattern, Truncal ...	OMIM:618273
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dys...	OMIM:183090
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased compound muscle...	OMIM:600882
Muscular Dystrophy, Congenital, With Or Without Seizures	Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ...	OMIM:620166
Familial Infantile Myoclonic Epilepsy	Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener...	ORPHA:352582
Febrile Seizures, Familial, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:611634
Pontocerebellar Hypoplasia, Type 1E	EEG with burst suppression, Myoclonus	OMIM:619303
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the corpus callo...	OMIM:619072
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Limb myoclonus, Truncal ataxia, Limb ataxia, Dysmetria, Hand tremor, Tongu...	ORPHA:276198
Lissencephaly 6 With Microcephaly	Microcephaly, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gy...	OMIM:616212
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykinesia, Progre...	ORPHA:98755
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventricul...	ORPHA:85179
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo...	OMIM:610539
Severe Neonatal-Onset Encephalopathy With Microcephaly	Bilateral tonic-clonic seizure, Involuntary movements, Multifocal epileptiform discharges, Seizur...	ORPHA:209370
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Short attention span, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Tonic...	OMIM:619580
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Short stature, Hypoglycemia	ORPHA:366
Cln5 Disease	Hyperactivity, Abnormal central motor function, Ataxia, EEG with spike-wave complexes, Aggressive...	ORPHA:228360
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Seizure, Focal impaired awareness se...	ORPHA:330050
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, ...	ORPHA:98794
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity	OMIM:618201
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:616570
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Chorea, EEG abnormality, Seizure, Focal impaired awareness seizur...	OMIM:613970
Congenital Disorder Of Glycosylation, Type Iaa	Appendicular spasticity, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:617082
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Growth delay, Dehydration	OMIM:251850
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Agenesi...	ORPHA:1528
Cataracts, Spastic Paraparesis, And Speech Delay	Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:619338
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Epilepsy, Childhood Absence, Susceptibility To, 5	Generalized non-motor (absence) seizure	OMIM:612269
Pontocerebellar Hypoplasia, Type 4	Seizure, Spasticity, Hypertonia, Myoclonus	OMIM:225753
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Cryptorchidism, Shawl scrotum, Micropenis, Agenesis of corpus callosum,...	OMIM:615433
Combined Oxidative Phosphorylation Deficiency 54	Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Primary amenorrhea, Secondary microce...	OMIM:619737
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Se...	ORPHA:309246
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
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
Chromosome 22Q13 Duplication Syndrome	Short attention span, Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention ...	OMIM:615538
Spastic Paraplegia 70, Autosomal Recessive	Ankle clonus, Spasticity, Fasciculations, Somatic sensory dysfunction	OMIM:620323
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus	ORPHA:139485
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Microcephaly, Amish Type	Irritability, Partial agenesis of the corpus callosum, Myoclonus, Limb hypertonia	OMIM:607196
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines	OMIM:301076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Type II lissencephaly, Pachygyria, Hydrocephalus, Simplified gyral pattern, Abnormal cerebral whi...	OMIM:613153
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:446
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Glycogen Storage Disease Ixc	Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct p...	OMIM:613027
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Periventricular heterotopia, Microcephaly, Partial agenesis of the corpus callosum, Simplified gy...	OMIM:616171
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Obesity, Seizure, Compulsive behaviors, Attention deficit hyperactivity dis...	ORPHA:444002
Mucolipidosis Iv	Dysplastic corpus callosum, Hypergastrinemia, Cerebral dysmyelination, Microcephaly	OMIM:252650
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic...	OMIM:619428
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Babinski sign, Seizure, Myoclonus, Cognitive impairment, Truncal ataxia, Spasticity	OMIM:252011
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykines...	OMIM:300423
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
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para...	OMIM:612164
Bilateral Striopallidodentate Calcinosis	Seizure, Abnormality of neuronal migration	ORPHA:1980
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia...	ORPHA:101112
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Focal impaired awareness hemiclonic seizure, Chorea, Generalized non-motor (a...	OMIM:620149
Bilateral Frontoparietal Polymicrogyria	Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali...	ORPHA:101070
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics	OMIM:619927
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Seizure, Cognitive impairment, Dysphagia	OMIM:617008
Sarcosinemia	Emotional lability, Bilateral tonic-clonic seizure, Tetraparesis, Ataxia	ORPHA:3129
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Ataxia, Aggressive behavior, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Seizu...	OMIM:618356
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume, Abnormal basal ganglia morphology	OMIM:618646
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Mannosidosis, Beta A, Lysosomal	Seizure, Hyperactivity, Aggressive behavior	OMIM:248510
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	EEG with polyspike wave complexes, Epileptic spasm, Spastic tetraparesis, EEG with focal sharp wa...	ORPHA:284417
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:614280
Familial Renal Glucosuria	Insulin resistance, Moderate postnatal growth retardation, Dehydration, Glycosuria, Hyperglycemia...	ORPHA:69076
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab...	ORPHA:324575
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Phonic tics, Seizure, Compulsive behaviors	OMIM:301107
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Generalized non-motor (absence) seizure	OMIM:618242
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements, Cognitive impairment	ORPHA:209970
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Increased hepatic glycogen...	OMIM:261750
Myoclonus, Intractable, Neonatal	Clonic seizure, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation	OMIM:617235
Arthrogryposis, Impaired Intellectual Development, And Seizures	Generalized non-motor (absence) seizure, Focal motor seizure	OMIM:615553
Early-Onset Lafora Body Disease	Seizure, Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Frontotemporal dementia, D...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Frontotemporal dementia, D...	OMIM:616437
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:618354
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor	OMIM:203450
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Developmental And Epileptic Encephalopathy 90	Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Babinski sign, H...	OMIM:301058
Sandhoff Disease, Juvenile Form	Incoordination, Ataxia, Abnormal pyramidal sign, Gait disturbance, Fasciculations, Abnormality of...	ORPHA:309162
Hyperekplexia 4	Seizure, Hypertonia, Myoclonus, Hypsarrhythmia	OMIM:618011
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Hyperactivity, Bilateral tonic-clonic seizure, Facial-lingual fasci...	OMIM:617281
Developmental And Epileptic Encephalopathy 72	Inability to walk, Hyperkinetic movements, Hypsarrhythmia, Dysphagia	OMIM:618374
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363549
Satb2-Associated Syndrome Due To A Pathogenic Variant	Seizure, Typical absence seizure, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:576283
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Irritability, EEG abnormalit...	ORPHA:457205
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Dehydration	ORPHA:28
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co...	OMIM:615157
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hy...	OMIM:618577
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Cryptorchidism, Dysgenesis of the basal ganglia, Lissencephaly, Death in childhood, Pachygyria, A...	OMIM:620316
Walker-Warburg Syndrome	Dandy-Walker malformation, Hypoplasia of penis, Absent septum pellucidum, Abnormal cortical gyrat...	ORPHA:899
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ...	OMIM:601764
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Gait disturbance, Fasciculations	OMIM:608030
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly	ORPHA:352682
Intellectual Developmental Disorder, X-Linked 104	Seizure, Hyperactivity, Ataxia, Aggressive behavior	OMIM:300983
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum	OMIM:614833
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Dementia, My...	OMIM:616640
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Involuntary movements, Myoclonic seizure, Seizure, Lateral ventri...	OMIM:615716
Diabetes Mellitus, Permanent Neonatal, 2	Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onse...	OMIM:618856
Pontocerebellar Hypoplasia, Type 2E	Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t...	OMIM:615851
Warburg Micro Syndrome 1	Enlarged sylvian cistern, External genital hypoplasia, Microcephaly, Cryptorchidism, Perisylvian ...	OMIM:600118
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Porencephalic cyst, Subcortical band heterotopia, Leukoen...	OMIM:615191
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seiz...	OMIM:618170
Imagawa-Matsumoto Syndrome	Cryptorchidism, Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissence...	ORPHA:89844
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular leukomalacia, Periventricular heterotopia, Periventricular cysts, Hypoplasia of t...	ORPHA:255138
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Dysphagia, Mental deteriora...	OMIM:619780
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr...	OMIM:612953
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Familial Congenital Mirror Movements	Hypogonadotropic hypogonadism, Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Periventricular Nodular Heterotopia 7	Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Seizure, Gray matter heterotop...	OMIM:617201
Lissencephaly, X-Linked, 2	Lissencephaly, Ambiguous genitalia, Micropenis, Pachygyria, Agenesis of corpus callosum, Decrease...	OMIM:300215
X-Linked Intellectual Disability, Stocco Dos Santos Type	Seizure, Hyperactivity	ORPHA:85288
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Den Hoed-De Boer-Voisin Syndrome	EEG with focal spike waves, Tremor, Abnormal repetitive mannerisms, Ataxia, Stereotypical hand wr...	OMIM:619229
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Short stature, Hypoglycemia, Growth delay, Portal fibrosis, Hepatic fibrosis, Cirrh...	ORPHA:369
Intellectual Developmental Disorder, X-Linked 101	Seizure, Hyperactivity	OMIM:300928
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations, Dysphagia, Loss of ambulation	OMIM:613435
Parkinsonism-Dystonia 1, Infantile-Onset	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,...	OMIM:613135
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Chronic Hiccup	Dehydration	ORPHA:396
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Endocardial Fibroelastosis	Cryptorchidism, Anterior hypopituitarism, Hypoglycemia	ORPHA:2022
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthotonus, Seizure, La...	OMIM:619847
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia, Agenesis of corpus callosum	OMIM:312170
Mitochondrial Complex I Deficiency, Nuclear Type 15	Irritability, Bilateral tonic-clonic seizure, Spastic tetraplegia	OMIM:618237
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
Lissencephaly Due To Lis1 Mutation	Infantile spasms, Posterior predominant thick cortex pachygyria, Focal motor seizure, Seizure, Fo...	ORPHA:95232
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Tonic seizure, Repetitive compulsive behavior, Chorea, Generalized no...	OMIM:300260
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Growth delay, Short stature, Fasting hypoglycemia	ORPHA:171706
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, H...	ORPHA:276580
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Seizure, Diminished ability to concentrate, Febrile seizure (...	OMIM:615516
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly	OMIM:619466
Adenylosuccinase Deficiency	Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Opisthotonus, Seizure, Inappr...	OMIM:103050
Neuroferritinopathy	Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Subcortical dementia,...	ORPHA:157846
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Seizure, Irritability, Compulsive behaviors, Atte...	OMIM:261600
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of the corpu...	ORPHA:2524
Valinemia	Hyperkinetic movements	OMIM:277100
Spinocerebellar Ataxia 10	Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysp...	OMIM:603516
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Depression, Seizure, P...	ORPHA:70595
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur...	OMIM:254780
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the corpus ca...	OMIM:304100
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Death in childhood	OMIM:613163
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi...	OMIM:600721
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia, Dehydration	ORPHA:289504
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Hypoplasia of penis, Microcephaly, Cryptorchidism, Ambiguous genitalia, Pachygy...	ORPHA:452
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Dysplastic corpus callosum, Micropenis, Hydrocele testis	OMIM:618810
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Supernumerary nipple, Periventricular heterotopia, Cryptorchidism, Interhypothalamic adhesion, Mi...	OMIM:618929
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Seizure, Spasticity, Ataxia, Myoclonus	OMIM:620094
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Diffuse cerebral atrophy, Secondary microcephaly, Decreased thalamic volume	OMIM:613668
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul...	ORPHA:65684
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:616281
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, EEG abnormality, Seizure, Status ...	ORPHA:529665
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Seizure, Bradykine...	OMIM:618877
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Progressive extrapyr...	ORPHA:53351
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Hypospadias, Microcephaly	ORPHA:2508
Basal Ganglia Calcification, Idiopathic, 5	Basal ganglia calcification, Cerebral calcification, Thalamic calcification	OMIM:615483
Combined Oxidative Phosphorylation Deficiency 27	Bilateral tonic-clonic seizure, Chorea, Multifocal epileptiform discharges, Opisthotonus, Status ...	OMIM:616672
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Microcephaly, Lissencephaly, Neonatal death, Agenesis of corpus callosum, Agyria	OMIM:616342
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait di...	OMIM:604484
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetraparesis, Clonic sei...	OMIM:618012
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Ho...	OMIM:615491
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Decreased response to growth hormone stimulation test, Ventriculomeg...	OMIM:615286
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Microvesicular hepatic steatosis, Dehydration, Recurrent hypoglycemia, Impaired glu...	OMIM:212140
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hyp...	ORPHA:276575
Parkinsonian-Pyramidal Syndrome	Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Dementia...	ORPHA:171695
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Aggressive behavior, Tremor, Seizure, Myoclonus, Dysphagia	ORPHA:97229
Pyruvate Dehydrogenase E1-Alpha Deficiency	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Partial agenesis of the corpus callosum...	ORPHA:79243
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait	OMIM:615031
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven...	OMIM:616900
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years)	OMIM:300454
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Aggressiv...	OMIM:300912
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis, Dehydration	ORPHA:79312
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Basal ganglia calcification, Thalamic calcification	OMIM:618824
Propionic Acidemia	Hepatomegaly, Short stature, Hypoglycemia, Dehydration, Pancreatitis	OMIM:606054
Hereditary Hyperekplexia	Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity	ORPHA:3197
Schindler Disease, Type I	Seizure, Spasticity, Myoclonus	OMIM:609241
Hyperekplexia 1	Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures	OMIM:149400
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Epileptic spasm, Hypsarrhythmia, Seizure, Myoclonus, Dysphagia, Agenesis...	OMIM:617669
Rhombencephalosynapsis	Septo-optic dysplasia, Hydrocephalus, Abnormality of the uterus, Fusion of the left and right tha...	ORPHA:59315
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto...	OMIM:617282
Developmental And Epileptic Encephalopathy 66	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C...	OMIM:618067
Oxoglutarate Dehydrogenase Deficiency	Rigidity, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia	OMIM:203740
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Infantile Krabbe Disease	Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Lower limb spasticity,...	ORPHA:206436
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Seizure	OMIM:612716
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity	OMIM:618225
X-Linked Cerebral Adrenoleukodystrophy	Short attention span, Lower limb spasticity, Hyperactivity, Ataxia, Confusion, Spastic tetrapares...	ORPHA:139396
Brain Small Vessel Disease 2	Focal-onset seizure, Subcortical heterotopia, Bilateral tonic-clonic seizure, Polymicrogyria	OMIM:614483
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:276556
Sulfite Oxidase Deficiency, Isolated	Bilateral tonic-clonic seizure, Ataxia, Multifocal epileptiform discharges, Choreoathetosis, Hype...	OMIM:272300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Seizure, Generalized non-motor (absence) seizure	OMIM:616033
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,...	OMIM:164400
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Cognitiv...	OMIM:608627
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Hypoglycemic seizures, Increased hepatic glycogen content, Neonatal hypo...	ORPHA:293964
Ataxia-Telangiectasia-Like Disorder	Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor apraxia, Freque...	ORPHA:251347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Ventriculomegaly, Agyria, Subcortical heterotopia, Type II lisse...	OMIM:614643
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Agen...	OMIM:207950
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus...	OMIM:218350
Serotonin Syndrome	Restlessness, Clonus, Confusion, Tremor, Rigidity, Irritability, Seizure, Hypertonia, Agitation, ...	ORPHA:43116
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Diffuse cerebral atrophy	ORPHA:363654
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Confusion, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, H...	OMIM:602481
Isaacs Syndrome	EEG abnormality, Fasciculations, Distal sensory impairment	ORPHA:84142
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Seizure, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t...	ORPHA:199351
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, P...	OMIM:610828
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Fatty Acid Hydroxylase-Associated Neurodegeneration	Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic paraparesis, Depression,...	ORPHA:329308
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Seizure, Hyperactivity, Bruxism	OMIM:300434
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Epileptic spasm, Partial agenesis of the corpus callosum, Vocal cord paralysis, Hypsarrhythmia, S...	ORPHA:500144
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Basal ganglia calcification, Thalamic calcification	OMIM:618317
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Tip-toe gait, Difficulty walking, Frequent falls, Pachygyria	ORPHA:370980
Craniotelencephalic Dysplasia	Frontal encephalocele, Agenesis of corpus callosum, Absent septum pellucidum, Lissencephaly	OMIM:218670
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Fg Syndrome 3	Death in infancy, Agenesis of corpus callosum, Cryptorchidism	OMIM:300406
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly	OMIM:620001
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Cerebral atrophy	OMIM:619057
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Septooptic Dysplasia	Diabetes insipidus, Absent septum pellucidum, Decreased response to growth hormone stimulation te...	OMIM:182230
Ck Syndrome	Hyperactivity, Aggressive behavior, Seizure, Irritability, Pachygyria, Polymicrogyria	ORPHA:251383
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Hypoglycemia, Pancreatitis, Dehydration	OMIM:251000
Kapur-Toriello Syndrome	Hypoplasia of penis, Dysplastic corpus callosum, Hypoplastic labia majora, Pachygyria, Polymicrog...	ORPHA:2328
Mehmo Syndrome	Birth length less than 3rd percentile, Hypoglycemia, Decreased response to growth hormone stimula...	OMIM:300148
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618470
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Restless legs, Absent brainstem auditory responses, Somatic sensory...	ORPHA:101085
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Typical absence seizure, Depress...	ORPHA:845
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab...	OMIM:613954
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Ataxia, Seizure, Inappropriate laughter, Polyphagia	ORPHA:411515
Metachromatic Leukodystrophy, Adult Form	Short attention span, Chorea, Babinski sign, Progressive psychomotor deterioration, Spasticity, E...	ORPHA:309271
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Gray matter h...	OMIM:615219
Infantile Cerebellar-Retinal Degeneration	Focal-onset seizure, Athetosis, Bilateral tonic-clonic seizure, Ataxia	OMIM:614559
Glycogen Storage Disease Iii	Hepatomegaly, Hepatic fibrosis, Short stature, Hypoglycemia	OMIM:232400
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, EEG w...	OMIM:614498
Ck Syndrome	Hyperactivity, Aggressive behavior, Seizure, Irritability, Pachygyria, Polymicrogyria	OMIM:300831
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Tremor, Depression, Seizure, Truncal obesit...	OMIM:300957
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Seizure, Fasciculations, Generaliz...	ORPHA:464282
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Tremor, Depression, Seizure, Hyperkinetic movements, Upper limb s...	ORPHA:457240
Aminoacylase 1 Deficiency	Seizure, Hyperactivity, Bilateral tonic-clonic seizure	OMIM:609924
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy...	OMIM:616973
Optic Atrophy 11	Hyperactivity, Ataxia, Gait apraxia, EEG with focal sharp waves, Dysmetria, Athetosis, Stereotypi...	OMIM:617302
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Dehydration	ORPHA:27
Mitochondrial Complex I Deficiency, Nuclear Type 13	Irritability, Spasticity, Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:618235
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma...	ORPHA:552
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Dehydration, Periportal fibros...	OMIM:263200
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Hyperactivity, Generalized non-motor (absence) seizure, Tics, Inappropriate laughter, Low frustra...	ORPHA:363686
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Babinski sign, Tongue thrusting, Limb tremor, Choreoat...	OMIM:608643
Angelman Syndrome	Broad-based gait, Hyperactivity, Ataxia, Infantile spasms, Aggressive behavior, Tremor, Inability...	ORPHA:72
Dystonia 34, Myoclonic	Torticollis, Myoclonus, Hand tremor, Head tremor	OMIM:619724
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Postnatal growth retardation, Short stature, Neonatal hypoglycemia, Hypoglycemia	ORPHA:231140
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Babinski sign, Progressive psychomotor deterioration, Spasticity, Clumsines...	ORPHA:309263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Generalized non-motor (absence) seizure	OMIM:618992
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Mild fetal ventriculomegaly, Agenesis of corpus callosum	OMIM:610498
Mitochondrial Dna Depletion Syndrome 19	Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Spasticity	OMIM:618972
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Abnormal thalamus morphology	ORPHA:404440
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Liang-Wang Syndrome	Status epilepticus, Generalized non-motor (absence) seizure, Ataxia	OMIM:618729
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Babinski sign, Slurred speech, ...	ORPHA:93952
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Tongue thr...	ORPHA:98795
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula...	OMIM:615925
Maternal Uniparental Disomy Of Chromosome X	Microcephaly, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoospermia...	ORPHA:261519
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis	OMIM:620137
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Broad-based gait, Babinski sign, Steppage gait, Tip-toe gai...	OMIM:615290
16P13.11 Microdeletion Syndrome	Microcephaly, Cryptorchidism, Abnormality of neuronal migration, Holoprosencephaly, Agenesis of c...	ORPHA:261236
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hepatic steatosis, Hypoglycemia, Intrauterine growth retardation	OMIM:619048
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Hydranencephaly, Abno...	ORPHA:2570
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of ...	OMIM:619103
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Growth delay	OMIM:620211
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure, Hypsarrhythmia, Hypertonia, A...	OMIM:619877
Glycosylphosphatidylinositol Biosynthesis Defect 1	Atonic seizure, Generalized non-motor (absence) seizure	OMIM:610293
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Chorea, Gait ataxia, Se...	ORPHA:500180
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Hyperintensity of cerebral white matter on MRI, T2 hypointense thalamus, Miscarriage, Cerebral at...	ORPHA:1947
Fatal Familial Insomnia	Ataxia, Weight loss, Dementia, Myoclonus, Dysphagia	OMIM:600072
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cerebellar ataxia, Progressive ...	ORPHA:284289
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Rigidity, Focal mo...	OMIM:619911
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py...	OMIM:602099
Xq25 Microduplication Syndrome	Seizure, Hyperactivity	ORPHA:521258
Spinocerebellar Ataxia 34	Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp...	OMIM:133190
Coffin-Siris Syndrome 8	Seizure, Hyperactivity, Self-injurious behavior, Aggressive behavior	OMIM:618362
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Interictal EEG abnormality, Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, EEG w...	ORPHA:544503
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly, Death in childhood	OMIM:604273
Niemann-Pick Disease Type C	Generalized-onset seizure, Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramid...	ORPHA:646
Wolcott-Rallison Syndrome	Hepatomegaly, Short stature, Neonatal insulin-dependent diabetes mellitus, Jaundice, Dehydration,...	ORPHA:1667
Diarrhea 13	Recurrent hypoglycemia, Hepatic steatosis	OMIM:620357
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal cortical gyration, Generalized non-moto...	ORPHA:79351
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
Acalvaria	Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration, Spina bifida	ORPHA:945
Early Infantile Epileptic Encephalopathy	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Foca...	ORPHA:1934
Young-Onset Parkinson Disease	Short attention span, Restless legs, Impulsivity, Tremor, Rigidity, Depression, Frontal lobe deme...	ORPHA:2828
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Tongue thrusting, Spastic tetraplegia, Hypsarrhythmia, Opisthoton...	OMIM:220120
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ataxia, Impaired distal proprioception, Sensory ataxia, Hypoesthesia, Babinski sign, Impaired dis...	OMIM:607459
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Propionic Acidemia	Hepatomegaly, Hypoglycemia	ORPHA:35
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Tongue fasciculations, Fas...	OMIM:607596
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Hemiparesis, Dementia, Bilateral tonic-clonic seizure	OMIM:540000
Developmental And Epileptic Encephalopathy 106	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper...	OMIM:620028
Nmda Receptor Encephalitis	Short attention span, Generalized-onset seizure, Involuntary movements, Confusion, Rigidity, Foca...	ORPHA:217253
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly, Growth delay, Hypoglycemia	OMIM:306000
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral cryptorchidism, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosu...	ORPHA:544488
Short Chain Acyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Hepatic steatosis, Ketotic hypoglycemia	ORPHA:26792
Spinocerebellar Ataxia 36	Incoordination, Ataxia, Babinski sign, Truncal ataxia, Limb ataxia, Gait ataxia, Hypertonia, Tong...	OMIM:614153
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Primary microce...	OMIM:615095
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Abnormality of...	ORPHA:35107
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Nipah Virus Disease	Tremor, Seizure, Myoclonus, Anorexia	ORPHA:99825
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Dehydration	OMIM:616069
Intellectual Developmental Disorder, Autosomal Recessive 74	Seizure, Hyperactivity	OMIM:617169
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l...	ORPHA:506
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,...	OMIM:618598
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic keto...	OMIM:262190
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Machado-Joseph Disease	Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babi...	OMIM:109150
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Hypoglycemia	OMIM:614741
Congenital Disorder Of Deglycosylation 2	Partial agenesis of the corpus callosum, Gray matter heterotopia, Hypothalamic hamartoma, Polymic...	OMIM:619775
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor fun...	ORPHA:79279
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici...	ORPHA:2959
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Seizure, Compulsive beha...	OMIM:619467
Temple Syndrome	Short stature, Decreased response to growth hormone stimulation test, Postnatal growth retardatio...	ORPHA:254516
Fragile X Syndrome	Hyperactivity, Periventricular heterotopia, Self-biting, Seizure, Recurrent hand flapping	OMIM:300624
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap...	OMIM:618060
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hypertonia, Myoclonus, Myoclonic seizure	OMIM:618240
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Amyotrophic Lateral Sclerosis 18	Spasticity, Fasciculations	OMIM:614808
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood	OMIM:619423
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, EEG abnormality, Seizure, Myoclonus	OMIM:300673
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, ...	OMIM:618820
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Dystonia-Aphonia Syndrome	Unsteady gait, Seizure, Gait disturbance, Myoclonus, Cognitive impairment, Dysphagia	ORPHA:412217
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Cerebral hypoplasia, Pachygyria, Agenesis of ...	ORPHA:168486
Alternating Hemiplegia Of Childhood	Progressive neurologic deterioration, Anorexia, Tremor, Oral-pharyngeal dysphagia, Chorea, Abnorm...	ORPHA:2131
Dk1-Cdg	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal epileptiform di...	ORPHA:91131
Bilateral Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,...	ORPHA:268940
Spinocerebellar Ataxia Type 13	Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Clumsiness, Seizure, G...	ORPHA:98768
Pyridoxal Phosphate-Responsive Seizures	Unsteady gait, Seizure, Hypertonia, Status epilepticus, Myoclonus, Failure to thrive	ORPHA:79096
Orofaciodigital Syndrome Xv	Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Panhypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95513
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe...	OMIM:205100
Choreoacanthocytosis	Chorea, Hypertonia, Compulsive behaviors, Decreased amplitude of sensory action potentials, Impai...	ORPHA:2388
Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci...	OMIM:105400
Baraitser-Winter Syndrome 2	Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614583
3P25.3 Microdeletion Syndrome	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Attention defici...	ORPHA:435638
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Post-Traumatic Pituitary Deficiency	Hypoglycemia, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Ab...	ORPHA:95619
Nicolaides-Baraitser Syndrome	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:3051
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Cerebrooculofacioskeletal Syndrome 1	Cryptorchidism, Insulin resistance, Dehydration	OMIM:214150
Metachromatic Leukodystrophy, Late Infantile Form	Babinski sign, Spasticity, Gait ataxia, Clumsiness, Seizure, Progressive gait ataxia, Tip-toe gai...	ORPHA:309256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi...	OMIM:613154
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Growth delay, Hyperglycemia, Hypoglycemia, Dehydration	OMIM:615453
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Impaired social interactions, Aggressive behavior	OMIM:616083
Autoimmune Hypoparathyroidism	Confusion, Depression, Irritability, Paresthesia, Myoclonic spasms, Hypocalcemic seizures	ORPHA:36913
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Myo...	OMIM:616505
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Hepatomegaly, Dehydration	OMIM:560000
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Frontal lob...	ORPHA:97355
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my...	OMIM:613839
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcepha...	ORPHA:357058
Mepan Syndrome	Ataxia, Chorea, Gait disturbance, Myoclonus, Dysphagia, Spasticity, Failure to thrive	ORPHA:508093
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Mental deterioration, Generalized no...	ORPHA:395
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Seizure, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxys...	OMIM:618718
Alexander Disease Type Ii	Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor	ORPHA:363722
Glucose/Galactose Malabsorption	Abnormal oral glucose tolerance, Hypertonic dehydration, Glycosuria	OMIM:606824
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Cerebral atrophy, Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventr...	OMIM:617296
Combined Oxidative Phosphorylation Deficiency 52	Hepatic steatosis, Pancreatitis, Hypoglycemia	OMIM:619386
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:618736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Absent septum pellucidum,...	OMIM:615287
Cystinosis	Short stature, Portal hypertension, Dehydration, Delayed puberty, Type I diabetes mellitus	ORPHA:213
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Lower limb spasticity, Short attention span, Ataxia, Babinski sign,...	ORPHA:88644
Polyendocrine-Polyneuropathy Syndrome	Short stature, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal growth retardation, Type I ...	OMIM:616113
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Harel-Yoon Syndrome	Ataxia, Generalized non-motor (absence) seizure	OMIM:617183
Li-Ghorbani-Weisz-Hubshman Syndrome	Seizure, Attention deficit hyperactivity disorder, Periventricular heterotopia	OMIM:618974
Ritscher-Schinzel Syndrome 4	Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch...	OMIM:619435
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im...	OMIM:300607
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Frontotemporal dementia, Amyotrophic lateral sclerosis, Fasciculations	OMIM:619141
Multiple Mitochondrial Dysfunctions Syndrome 1	Failure to thrive, Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrap...	OMIM:605711
Developmental And Epileptic Encephalopathy 101	Seizure, Myoclonus, Opisthotonus	OMIM:619814
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Bilateral tonic-clonic seizure	OMIM:619278
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death, Polymicrogyria, Abnormal cortical gyration	OMIM:619602
Duplication Of The Pituitary Gland	Encephalocele, Microcephaly, Abnormal pituitary gland morphology, Abnormal hypothalamus morpholog...	ORPHA:314621
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Microhydranencephaly	Microcephaly, Hydranencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:605013
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Irritability, Seizure, Spasticity, A...	ORPHA:481152
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypoglycemia	OMIM:201910
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Pericardial effusion, Intrauterine growth retardation, Pleural effusion, Ascites, O...	OMIM:614702
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon...	ORPHA:309155
Sandhoff Disease	Exaggerated startle response, Bilateral tonic-clonic seizure, Ataxia, Impaired temperature sensat...	OMIM:268800
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Recurr...	ORPHA:79644
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Progressive microcephaly, Lissencephaly, Agenesis of corpus callosum...	OMIM:615249
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Multifocal epileptiform...	OMIM:271900
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Infantile spasms, Aggressive behavior, Chorea, Spastic tetraplegia, Gait ataxia, Irritabi...	OMIM:618321
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Epileptic spasm, Myoclonus, Hypsarrhythmia	OMIM:619060
Brain-Lung-Thyroid Syndrome	Short attention span, Hyperactivity, Incoordination, Ataxia, Involuntary movements, Abnormal eati...	ORPHA:209905
Intellectual Developmental Disorder, X-Linked 107	Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of c...	ORPHA:77298
Japanese Encephalitis	Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Weakness due to upper ...	ORPHA:79139
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Dehydration, Glycosuria, Intrauterine growth retard...	ORPHA:99885
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Generalized-onset seizure, Loss of ability to walk in early childhood, Small for gestational age,...	OMIM:612073
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:246900
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia, Focal impaired ...	OMIM:619983
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Polyhydramnios, Dehydration, Growth delay, Intrauterine growth retardation, Hepatic s...	OMIM:616271
2,4-Dienoyl-Coa Reductase Deficiency	Choreoathetosis, Seizure, Myoclonic absence seizure, Ataxia	OMIM:616034
Neurodevelopmental Disorder With Spasticity And Poor Growth	Ataxia, Clonus, Infantile spasms, Babinski sign, Myoclonic seizure, Opisthotonus, Irritability, S...	OMIM:618076
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal social behavior, Abnormal repe...	ORPHA:530983
Severe X-Linked Intellectual Disability, Gustavson Type	Seizure, Lateral ventricle dilatation, Hypertonia, Myoclonus, Spasticity	ORPHA:3078
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Periventricular nodular heterotopia, Cryptorchi...	OMIM:603671
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callo...	OMIM:225790
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Bilateral tonic-clonic seizure, Aggressive behavior, Babinski sign, Seizure, ...	ORPHA:364028
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Depression, Myoclonic spasms, Frequent falls	OMIM:184850
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Postnatal growth retardation, Type ...	ORPHA:453533
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Intrauterine growth retardation, Hypoglycemia	ORPHA:231147
Chromosome Xq25 Duplication Syndrome	Seizure, Hyperactivity	OMIM:300979
Sialidosis Type 1	Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, EEG abnormality, Seizure, My...	ORPHA:812
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Maple Syrup Urine Disease	Hypoglycemia, Pancreatitis, Cerebral edema	OMIM:248600
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:617872
Cerebrofacioarticular Syndrome	Hypospadias, Microcephaly, Dysplastic corpus callosum, Absence of pubertal development, Gray matt...	ORPHA:314679
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Dehydration	OMIM:602722
Kufor-Rakeb Syndrome	Eyelid apraxia, Short attention span, Confusion, Parkinsonism, Rigidity, Babinski sign, Abnormal ...	ORPHA:306674
Developmental And Epileptic Encephalopathy 61	Seizure, Spasticity, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617933
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Delayed puberty, Micropenis, A...	OMIM:147950
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl...	ORPHA:466722
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema	ORPHA:88619
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Hydrocephalus, Abnormality of neuronal migration, Abnormal basal ganglia ...	ORPHA:157
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia	ORPHA:664
Developmental And Epileptic Encephalopathy 2	Generalized-onset seizure, Multifocal seizures, Infantile spasms, Hypsarrhythmia, Seizure, Myoclo...	OMIM:300672
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status...	OMIM:612949
Donohue Syndrome	Postnatal growth retardation, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Panc...	OMIM:246200
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Microcephaly, Lissencephaly, Hypoplasia of the corpus callosum, Ambiguous genitalia, Micropenis, ...	OMIM:618142
Microcephaly 20, Primary, Autosomal Recessive	Microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the uterus, Small cereb...	OMIM:617914
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur...	ORPHA:457351
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Proportionate short stature, Dehydration	ORPHA:171876
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia	ORPHA:369847
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Nonimmune hydrops fetalis, Jaundice, Cirrhosis, Pleural effusion, Ascites	OMIM:617049
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Hypospadias, Endometriosis, Dysplastic corpus callosum, Micropen...	ORPHA:363444
Lissencephaly 9 With Complex Brainstem Malformation	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Myoclonic seizure, Seizu...	OMIM:618325
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Seizure, Attenti...	OMIM:620242
Reticular Dysgenesis	Dehydration	ORPHA:33355
Hydrolethalus	Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube mor...	ORPHA:2189
Oromandibular Dystonia	Torticollis, Dysphagia, Depression, Blepharospasm, Weight loss, Hyperkinetic movements, Bruxism	ORPHA:93958
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Confusion, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapares...	OMIM:607483
Amish Lethal Microcephaly	Irritability, Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Limb hypertonia	ORPHA:99742
Melas	Short attention span, Abnormal central motor function, Bilateral tonic-clonic seizure, Ataxia, Fo...	ORPHA:550
Congenital Insensitivity To Pain With Severe Intellectual Disability	Pain insensitivity, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Impaired ...	ORPHA:453510
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:616602
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Seiz...	ORPHA:449291
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Baraitser-Winter Syndrome 1	Microcephaly, Cryptorchidism, Lissencephaly, Micropenis, Pachygyria, Agenesis of corpus callosum,...	OMIM:243310
D-Glyceric Aciduria	Seizure, Chorea, Myoclonus, Spasticity	ORPHA:941
Hsd10 Disease, Infantile Type	Restlessness, Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperki...	ORPHA:391428
Intellectual Developmental Disorder, Autosomal Dominant 22	Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bruxism	OMIM:612337
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Multifocal seizures, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Ataxia, Incoordina...	ORPHA:480864
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Seizure, Abnormality of neuronal migration	OMIM:300049
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Edema, Dehydration, Hyperglycemia	ORPHA:134
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus,...	OMIM:254900
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Hypogonadotropic hypogonadism, Neoplasm of the ...	ORPHA:54595
Pancreatic Agenesis 1	Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Oligohydramnios,...	OMIM:260370
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, EEG with generalized epilepti...	ORPHA:488613
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Fasciculations, Distal sensory impairment	OMIM:137200
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation, Jaundice, Dehydration, Cholest...	OMIM:208085
Juvenile Sialidosis Type 2	Lower limb spasticity, Ataxia, Dysmetria, Seizure, Myoclonus, Dysphagia, Generalized myoclonic se...	ORPHA:93399
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bilateral tonic-clonic seizure, Abnormal repetitive mannerisms, Babinski sign, Generalized non-mo...	OMIM:615802
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Microcephaly, Cryptorchidism, Abnormality of neuronal migration, Ambiguous g...	ORPHA:2772
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Lipid accumulation in...	ORPHA:20
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Small scrotum, Cryptorchidism, Hypogonadism, Agenesis of corpus callosum	ORPHA:228390
Vici Syndrome	Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum, Cerebral cortical atrophy	ORPHA:1493
Acromelic Frontonasal Dysplasia	Encephalocele, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Hypopituitarism, Agene...	ORPHA:1827
Leber Congenital Amaurosis	Seizure, Abnormality of neuronal migration	ORPHA:65
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se...	OMIM:619835
Acth Deficiency, Isolated	Cholestasis, Jaundice, Fasting hypoglycemia, Adrenocorticotropic hormone deficiency	OMIM:201400
Holoprosencephaly 14	Ventriculomegaly, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microc...	OMIM:619895
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus...	OMIM:614105
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Hepatic steatosis, Cerebral edema, Hypoglycemia	OMIM:201450
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Septo-optic dysplasia, Diabetes insipidus, Absent septum pellucidum, Anterio...	ORPHA:3157
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Postnatal growth retardation, Short stature, Hypoglycemia	ORPHA:231137
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon...	OMIM:261680
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Short stature, Hypoglycemia, Posterior pituitary hypoplasia, Neonata...	OMIM:613986
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Hydrocephalus, Abnormality ...	ORPHA:228308
Early-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Dehydration	ORPHA:556030
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Short stature, Hypoglycemia	ORPHA:48431
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Dehydration	ORPHA:103910
Central Diabetes Insipidus	Dehydration	ORPHA:178029
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Cryptorchidism, Agenesis of corpus callosum, Hypospadias, Microcephaly	OMIM:300004
Peho Syndrome	Seizure, Myoclonus, Hypsarrhythmia	OMIM:260565
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Seizure, Broad-based gait, Myoclonus	OMIM:616158
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:266150
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Polyphagia, Seizure, Self-injurious behavior, Abnormal repetitive manneris...	ORPHA:228402
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus	OMIM:618314
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Fasciculations, Frequ...	ORPHA:521411
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Porencephalic cyst, Cortical dysplasia, Hypoplasia of the corpus c...	OMIM:613001
Autosomal Agammaglobulinemia	Hepatitis, Dehydration	ORPHA:33110
Corticosterone Methyloxidase Type Ii Deficiency	Growth delay, Dehydration	OMIM:610600
Corticosterone Methyloxidase Type I Deficiency	Growth delay, Dehydration	OMIM:203400
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Hyperinsulinemia, Glycosuria, Pancreatic islet-cell hyperplasia, Fasting hypoglycem...	ORPHA:263455
Opsoclonus-Myoclonus Syndrome	Ataxia, Rigidity, Irritability, Myoclonus, Cognitive impairment, Limb myoclonus	ORPHA:1183
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Ataxia, Babinski sign, Gait ataxia, Hyperkinetic movements, Loss of ambulation, Spasticity	OMIM:620089
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Periventricular leukomalacia, Microcephaly, Cryptorchidism, Hydroc...	ORPHA:500055
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Ataxia, Seizure, Inappropriate laughter, Febrile seizure (within the age range of ...	OMIM:614104
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Gray matter heterotopia, Lateral ventricle dilatation, Poly...	OMIM:617397
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Hypertonia, Gait disturbance, Hyperkinetic movements	OMIM:236270
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Microcephaly, Periventricular heterotopia, Cryptorchidism, Cortical dysplasia, Simpl...	ORPHA:468631
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co...	ORPHA:97282
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Periventricular heterotopia, Hydrocephalus, Hyperintensity of cerebral wh...	OMIM:618476
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Death in infancy, Focal T2 hyperintense thalamic lesion	OMIM:619046
Chromosome Xp11.23-P11.22 Duplication Syndrome	Generalized non-motor (absence) seizure	OMIM:300801
Neutral Lipid Storage Disease With Myopathy	Fasciculations, Difficulty walking	OMIM:610717
Familial Cold Urticaria	Dehydration	ORPHA:47045
Whipple Disease	Ataxia, Anorexia, Cachexia, Abnormal pyramidal sign, Depression, Seizure, Myoclonus, Polydipsia	ORPHA:3452
Adult-Onset Cervical Dystonia, Dyt23 Type	Torticollis, Limb tremor, Head tremor, Myoclonus	ORPHA:420492
Isolated Exencephaly	Anterior pituitary hypoplasia, Maternal diabetes, Holoprosencephaly, Posterior pituitary agenesis...	ORPHA:563612
Intellectual Developmental Disorder, Autosomal Recessive 13	Seizure, Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Combined Oxidative Phosphorylation Defect Type 7	Abnormal cerebral white matter morphology, Abnormal thalamic MRI signal intensity, Hypoplasia of ...	ORPHA:254930
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Seizure, Dysdia...	OMIM:610217
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Holoprosencephaly, Microcephaly	ORPHA:2165
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H...	ORPHA:447997
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Simplified gyral pattern, Gait ataxia, Seizure, Emotional lab...	OMIM:300354
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Decreased nerve conduction velocity, ...	ORPHA:329478
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia	ORPHA:436174
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Microcephaly, Periventricular heterotopia, Hydrocephalus, Colpocephaly, Periventricular leukomala...	OMIM:619833
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity	OMIM:614299
Pituitary Hormone Deficiency, Combined, 2	Short stature, Reduced circulating prolactin concentration, Hypoglycemic seizures, Panhypopituita...	OMIM:262600
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity	ORPHA:444013
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Cryptorchidism, Dehydration, Adrenocorticotropic hormone excess, Congenital adrenal hyperplasia, ...	ORPHA:90791
Classic Galactosemia	Hepatomegaly, Hypoglycemia, Cryptorchidism, Jaundice, Delayed puberty, Ascites	ORPHA:79239
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hepatic necrosis, Growth delay, Hepatic steatosis, Hypoketotic hypoglycemia	OMIM:231530
Pontocerebellar Hypoplasia, Type 7	Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Tongue...	OMIM:614969
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Seizure, Hyperactivity, Aggressive behavior	ORPHA:457260
Secondary Short Bowel Syndrome	Growth delay, Cholestasis, Dehydration	ORPHA:95427
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Hypoglycemia, Postnatal growth retardation, Insulin resistance, Severe postnatal g...	ORPHA:73272
Aicardi Syndrome	Spina bifida, Microcephaly, Pachygyria, Precocious puberty, Partial agenesis of the corpus callos...	OMIM:304050
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re...	ORPHA:2495
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Facial-lingual fasciculations, Babinski sign, Vocal cord ...	ORPHA:276244
Intellectual Developmental Disorder, X-Linked 21	Seizure, Hyperactivity, Impulsivity	OMIM:300143
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton...	ORPHA:314655
Adrenal Hypoplasia, Congenital	Cryptorchidism, Dehydration, Delayed puberty	OMIM:300200
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Inability to walk, Fasciculations	ORPHA:206546
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Progressive psychomotor deterioration, Seizure, Myoclonus, Polyphagia	ORPHA:251004
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Intrauterine growth retardation, Hypoglycemia, Nonimmune hydrops fetalis	OMIM:618835
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Short stature, Hypoglycemia, Cryptorchidism, Delayed puberty	ORPHA:95496
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decreased response to g...	ORPHA:699
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Cholelithiasis, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Male u...	ORPHA:464738
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Intrauterine growth retardation, Hypoglycemia, Nonimmune hydrops fetalis	OMIM:618839
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia, Postnatal growth retardation, Cryptorchidism, Intrauterine growth retardation, Olig...	ORPHA:397590
Pseudotrisomy 13 Syndrome	Encephalocele, Adrenal hypoplasia, Microcephaly, Cryptorchidism, Hydrocephalus, Bicornuate uterus...	OMIM:264480
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal basal ganglia MRI signal intensity, Abnormal mitochondrial shape, Secondary microcephaly...	ORPHA:485421
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Microcephaly, Decrease...	ORPHA:168577
2P21 Microdeletion Syndrome	Growth delay, Hypoglycemia	ORPHA:163693
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Hypoplasia of penis, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:990
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Hypoglycemia, Nonimmune hydrops fetalis	OMIM:618838
Neuraminidase Deficiency	Seizure, Slurred speech, Myoclonus, Dysmetria	OMIM:256550
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Seizure, Hyperactivity, Infantile spasms, Tonic seizure	OMIM:619239
Hypercalcemia, Infantile, 1	Dehydration	OMIM:143880
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617468
Kleefstra Syndrome Due To 9Q34 Microdeletion	Epileptic spasm, Generalized non-motor (absence) seizure, Depression, Seizure, Irritability, Stat...	ORPHA:96147
Alg11-Cdg	Ataxia, EEG with burst suppression, Opisthotonus, Gray matter heterotopia, Hypertonia, Limb hyper...	ORPHA:280071
Acute Disseminated Encephalomyelitis	Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal thala...	ORPHA:83597
Microform Holoprosencephaly	Hypoplasia of penis, Maternal diabetes, Microcephaly, Hypothyroidism, Agenesis of corpus callosum...	ORPHA:280200
Isovaleric Acidemia	Dehydration	OMIM:243500
Cerebrotendinous Xanthomatosis	Abnormal pyramidal sign, Progressive psychomotor deterioration, Abnormal motor evoked potentials,...	ORPHA:909
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Postnatal growth retardation, Intrahepatic cholestasis, Jaundice, Hepatic fibrosis,...	OMIM:617093
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Cryptorchid...	OMIM:151050
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur...	OMIM:615398
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Lissencephaly, Holoprose...	OMIM:253800
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Lateral ven...	ORPHA:2822
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Short stature, Hypoglycemia	ORPHA:364
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Ataxia, Loss of ability to walk in first decade, Truncal ataxia, Hyperkinetic movements, Interict...	OMIM:300243
Microphthalmia With Brain And Digit Anomalies	Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosum, Micr...	ORPHA:139471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, EEG abnormal...	OMIM:615356
Tetrasomy 18P	Gait disturbance, Abnormality of neuronal migration	ORPHA:3307
Poliomyelitis	Confusion, Anorexia, Paralysis, Abnormal motor nerve conduction velocity, Inability to walk, Para...	ORPHA:2912
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Focal-onset seizure, Generalized non-motor (absence) seizure, Seizure, Lissencephaly, Cognitive i...	ORPHA:258
Microcephaly 29, Primary, Autosomal Recessive	Hyperactivity, Ataxia, Simplified gyral pattern, Seizure, Emotional lability	OMIM:620047
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Spastic tetraparesis, Infantile spasms, Seizure, Myoclonus, Failure to...	OMIM:614261
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Hypospadias, Absent septum pellucidum, Supernumerary n...	ORPHA:397715
Cog8-Cdg	Seizure, Failure to thrive, Ataxia, Myoclonus	ORPHA:95428
Bilateral Perisylvian Polymicrogyria	EEG with polyspike wave complexes, Lower limb spasticity, EEG with parietal focal spikes, EEG wit...	ORPHA:98889
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	EEG abnormality, Spasticity, Seizure, Myoclonus	OMIM:246450
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Polyhydramnios	ORPHA:1203
3-Methylglutaconic Aciduria Type 7	Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Abnormal...	ORPHA:445038
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Dysphagia, Right hemiplegia	OMIM:607426
Trisomy 1Q	Small scrotum, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Agenesis of corpus callosum, V...	ORPHA:261344
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati...	ORPHA:562
3-Methylglutaconic Aciduria Type 4	Hypoglycemia	ORPHA:67048
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Pancreatic fibrosis, Hydrops fetalis, Macronodular cirrhosis, Dehydration, Type I d...	OMIM:557000
Chromosome Xq13 Duplication Syndrome	Hyperactivity, Aggressive behavior, Seizure, Diminished ability to concentrate, Attention deficit...	OMIM:301069
Lamellar Ichthyosis	Short stature, Dehydration	ORPHA:313
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Seizure, Cho...	ORPHA:35069
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyperglycemia, Pancreati...	OMIM:609069
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure, Athetosis, Focal imp...	ORPHA:369929
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Hypothyroidism, Agenesi...	ORPHA:1812
Machado-Joseph Disease Type 1	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276238
Machado-Joseph Disease Type 2	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276241
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Growth delay, Intrauterine growth retardation, Hypoglycemia, Neonatal death	OMIM:245400
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, Cryptor...	ORPHA:96191
Hartsfield Syndrome	Hypospadias, Diabetes insipidus, Alobar holoprosencephaly, Microcephaly, Cryptorchidism, Gonadotr...	OMIM:615465
Silver-Russell Syndrome 2	Intrauterine growth retardation, Short stature, Neonatal hypoglycemia	OMIM:618905
Unilateral Polymicrogyria	Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S...	ORPHA:268943
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatiti...	OMIM:167800
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Molybdenum Cofactor Deficiency, Complementation Group B	Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Irritability, Seizure, Hyperto...	OMIM:252160
Hypomelanosis Of Ito	Gray matter heterotopia, Seizure	OMIM:300337
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, ...	OMIM:251880
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure, Head-banging	OMIM:619356
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Bilateral cryptorchidism, Epispadias, Partial agenesis of...	ORPHA:434179
Combined Oxidative Phosphorylation Deficiency 11	Seizure, Stillbirth, Myoclonus, Tongue fasciculations, Neonatal death, Lethargy	OMIM:614922
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Vaginal atresia	ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Microcephaly, Meningoen...	OMIM:236670
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp...	OMIM:615710
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypothyroidism, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Absent septum pellucidum, Adrenal hypoplasia, Focal polymicrogyria, C...	OMIM:612651
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Aggressive behavior, Seizure, Self-injurious behavior, Skin-pi...	OMIM:600430
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (abse...	OMIM:620224
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Cryptorchidism, Colpocephaly, Hypoplasia of the corpus callosum, Ven...	ORPHA:261250
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
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Septo-optic dysplasia, Anterior pi...	ORPHA:95494
Joubert Syndrome	Ataxia, Tremor, Abnormality of neuronal migration, Gait disturbance, Oculomotor apraxia, Polymicr...	ORPHA:475
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat...	ORPHA:522077
Methylmalonyl-Coa Epimerase Deficiency	Dehydration	OMIM:251120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Intracerebral periventricular calcifications, Microcephaly, Abnormality of neur...	OMIM:608836
Intellectual Developmental Disorder, Autosomal Dominant 53	Irritability, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clon...	OMIM:617798
Orofaciodigital Syndrome Xvi	Oculomotor apraxia, Inability to walk, Ataxia, Gray matter heterotopia	OMIM:617563
Hypotonia-Cystinuria Syndrome	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Neonatal hyp...	OMIM:606407
Combined Oxidative Phosphorylation Deficiency 57	Neonatal death, Seizure, Small for gestational age, Myoclonus	OMIM:620167
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:614207
6Q Terminal Deletion Syndrome	Hypospadias, Phimosis, Periventricular heterotopia, Abnormality of neuronal migration, Abnormal c...	ORPHA:75857
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Dehydration, Portal fibrosis, Hepatic fibrosis, Pr...	OMIM:619377
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Hypoglycemia	ORPHA:2394
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Hypoglycemia	OMIM:618120
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Ataxia, Depression, Seizure, Self-injurious behavior, Cognitive impairment	OMIM:601853
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia, Dehydration	ORPHA:230
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Diabetes mellitus, Short stature, Hypoglycemia, Glycosuria	OMIM:616026
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Seizure, Pica, Generalized non-motor (absence) seizure	OMIM:617360
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Type II lissencephaly, Microcephaly, Hydrocephalus, Pachygyria, ...	OMIM:613150
Dpm1-Cdg	Early onset absence seizures, Ataxia, Seizure, Generalized myoclonic seizure, Atonic seizure, Gen...	ORPHA:79322
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Dehydration	OMIM:264350
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Vocal cord pa...	OMIM:617799
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Decreased response to growth hormone stimulation test, Microcephaly, Hy...	OMIM:609053
Spinal Muscular Atrophy, Ryukyuan Type	Fasciculations	OMIM:271200
Radio-Tartaglia Syndrome	Precocious puberty, Gray matter heterotopia, Agenesis of corpus callosum, Microcephaly	OMIM:619312
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Mucopolysaccharidosis, Type Iiib	Seizure, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior	OMIM:252920
Aceruloplasminemia	Diabetes mellitus, Abnormal pancreas morphology, Abnormal thalamic MRI signal intensity, Abnormal...	ORPHA:48818
Glycogen Storage Disease Ia	Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinoma, Growth delay, Fasting hypogl...	OMIM:232200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Babinski sign, Abnormality of neuronal migration	OMIM:608840
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Hepatocellular adenoma, Cholestasis, Pol...	ORPHA:264580
Dend Syndrome	Hyperglycemia, Dehydration	ORPHA:79134
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Sei...	ORPHA:466943
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Neuromuscular Oculoauditory Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Agenesis o...	OMIM:618733
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Chorea, Seizure, Athetosis, Self-mutilation	ORPHA:52503
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Short stature, Ketotic hypoglycemia, Postnatal growth retardation, Splenomegaly, He...	ORPHA:79240
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Congenital Short Bowel Syndrome	Dehydration	OMIM:615237
Joubert Syndrome 30	Gray matter heterotopia, Seizure	OMIM:617622
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Short stature, Hypoglycemia, Splenomegaly, Delayed puberty, He...	OMIM:232220
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Pancreatic cysts, Myelomeningocele, Porencephalic cyst,...	OMIM:311200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia, Proportionate short stature, Severe postnatal growth retardation...	ORPHA:391408
Congenital Tufting Enteropathy	Cholestatic liver disease, Dehydration	ORPHA:92050
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Cryptorchidism, Growth delay, Recurrent hypoglycemia, Delayed puberty, Intrauterin...	OMIM:616817
Infantile Liver Failure Syndrome 2	Jaundice, Hypoglycemia	OMIM:616483
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Short stature, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Hepatocellular carci...	OMIM:180860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia	OMIM:600649
Neonatal Adrenoleukodystrophy	Seizure, Abnormality of neuronal migration	ORPHA:44
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Seizure	OMIM:619694
Leukodystrophy, Hypomyelinating, 10	Inability to walk, Spasticity, Babinski sign, Hyperkinetic movements	OMIM:616420
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism	OMIM:616351
9P13 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Myoclonus, Hand tremor, Bruxism	ORPHA:324313
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Seizure, Abnormality of neuronal migration, Cognitive impairment	ORPHA:2063
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Frontotemporal dementia, Abnormal motor neuron morp...	ORPHA:52430
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myo...	OMIM:620070
Netherton Syndrome	Short stature, Dehydration	ORPHA:634
Hydranencephaly	Ventriculomegaly, Thalamic edema, Cerebral cortical atrophy, Primary microcephaly, Dysgenesis of ...	ORPHA:2177
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Ataxia, Bilateral tonic-clonic seizure, Tetraplegia, Spasticity, Fasciculations, Progressive spas...	ORPHA:496641
Malonyl-Coa Decarboxylase Deficiency	Short stature, Hypoglycemia	OMIM:248360
Hyperphosphatasia-Intellectual Disability Syndrome	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Seizure, Myoclonus, Oc...	ORPHA:247262
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
Hsd10 Mitochondrial Disease	Hypoglycemia	OMIM:300438
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Hypoglycemia, Oligohydramnios	OMIM:618253
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Seizure, Myoclonus	OMIM:614462
Neurooculorenal Syndrome	Ectopic posterior pituitary, Decreased circulating cortisol level, Aqueductal stenosis, Cryptorch...	OMIM:620305
Alkuraya-Kucinskas Syndrome	Small scrotum, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia,...	OMIM:617822
Laron Syndrome	Severe short stature, Hypoglycemia, Delayed puberty	ORPHA:633
48,Xxxy Syndrome	Tremor, Obesity, Irritability, Seizure, Attention deficit hyperactivity disorder, Abnormal social...	ORPHA:96263
Galactokinase Deficiency	Hepatomegaly, Hyperinsulinemia, Hypoglycemia, Hepatosplenomegaly	ORPHA:79237
Harlequin Ichthyosis	Dehydration	ORPHA:457
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus, N...	OMIM:619055
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Bifid scrotum, Abnormal penis morphology, Hypospadias, Abnormal cortical gyration,...	ORPHA:2211
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hypoglycemia	ORPHA:156
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Megalencephaly, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy,...	ORPHA:3063
3C Syndrome	Death in infancy, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Hydrocephalus, Abnormalit...	ORPHA:7
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Hypospadias, Hypodysplasia of the corpus callosum, Microcephaly, Cryptorchidism, H...	OMIM:257300
Fanconi-Bickel Syndrome	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Growth delay, Glycosuria, Abnormal h...	ORPHA:2088
Ethylene Glycol Poisoning	Ataxia, Confusion, Slurred speech, Euphoria, Seizure, Addictive alcohol use, Myoclonus	ORPHA:31826
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Hypoglycemia, Cerebral edema	OMIM:611126
X-Linked Adrenoleukodystrophy	Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Dementia, Disinhibition, Cogniti...	ORPHA:43
Developmental And Epileptic Encephalopathy 95	Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, EEG with burst suppression, Focal-on...	OMIM:618143
Meckel Syndrome 12	Microcephaly, Hypoplasia of the uterus, Agenesis of corpus callosum, Vaginal atresia, Cerebral hy...	OMIM:616258
Halperin-Birk Syndrome	Colpocephaly, Death in childhood, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holopr...	OMIM:618651
Agnathia-Otocephaly Complex	Agenesis of corpus callosum, Holoprosencephaly	OMIM:202650
Microtriplication 11Q24.1	Speech apraxia, Hyperkinetic movements, Bruxism	ORPHA:289522
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Myoclonus	ORPHA:168593
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Hypoplasia of ...	OMIM:617260
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Holoprosencephaly 9	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal co...	OMIM:610829
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Dehydration	OMIM:251110
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Combined Oxidative Phosphorylation Deficiency 14	EEG abnormality, Seizure, Myoclonus, Myoclonic seizure	OMIM:614946
Shigellosis	Hypoglycemia, Peritonitis, Cholestasis, Dehydration, Splenic abscess	ORPHA:810
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Lower limb spasticity, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Seizure, Upper li...	OMIM:617193
Galloway-Mowat Syndrome	Seizure, Pachygyria, Abnormality of neuronal migration, Cognitive impairment	ORPHA:2065
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Chorea, Bilateral tonic-clonic seizure, Truncal ataxia	ORPHA:369840
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Dehydration	OMIM:177735
Neu-Laxova Syndrome	Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnormal cortical gyration, Pachy...	ORPHA:2671
De Sanctis-Cacchione Syndrome	Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia,...	OMIM:278800
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Fusion of the left and right thalami, Secondary microcephaly, Dilated fourth ventricle, Hypoplasi...	OMIM:619306
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hypoglycemia, Dehydration, Growth delay, Hyperglycemia	ORPHA:3008
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Aggressive behavior, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Nonprogressive ce...	ORPHA:314647
Congenital Isolated Acth Deficiency	Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice	ORPHA:199296
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo...	ORPHA:2126
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa...	ORPHA:682
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non-motor (absence) s...	ORPHA:513456
Jaberi-Elahi Syndrome	Appendicular spasticity, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Choreoat...	OMIM:617988
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	ORPHA:2655
Bohring-Opitz Syndrome	Supernumerary nipple, Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, H...	OMIM:605039
Opitz-Kaveggia Syndrome	Hypospadias, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter ...	OMIM:305450
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Hepatic periportal necrosis, He...	OMIM:231680
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations, Dysphagia	OMIM:313200
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypertonia, Generalized myoclonic seiz...	OMIM:615501
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Impaired vibratory sensation, Somatic ...	ORPHA:466768
Congenital Disorder Of Deglycosylation 1	Restlessness, Pain insensitivity, Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Dysme...	OMIM:615273
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Proportionate short stature, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, H...	ORPHA:71212
Hydrolethalus Syndrome 1	Hypospadias, Absent septum pellucidum, Abnormal cortical gyration, Bifid uterus, Anencephaly, Gra...	OMIM:236680
1Q44 Microdeletion Syndrome	Agenesis of corpus callosum, Bilateral tonic-clonic seizure	ORPHA:238769
Neurocutaneous Melanocytosis	Death in infancy, Meningocele, Abnormality of neuronal migration, Dandy-Walker malformation, Vent...	ORPHA:2481
Congenital Sialidosis Type 2	Ataxia, Dysmetria, Seizure, Myoclonus, Spasticity	ORPHA:93400
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizur...	OMIM:620024
Diarrhea 1, Secretory Chloride, Congenital	Growth delay, Polyhydramnios, Dehydration	OMIM:214700
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia, Jaundice, Hydrops fetalis, Dehydration, Growth delay, Intrauterine growth retardation	ORPHA:79282
Galloway-Mowat Syndrome 10	Myoclonus	OMIM:619609
Bachmann-Bupp Syndrome	Cryptorchidism, Hypoglycemia, Polyhydramnios	OMIM:619075
Pelger-Huet Anomaly	Seizure, Lower limb hypertonia, Bilateral tonic-clonic seizure	OMIM:169400
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Diabetes insipidus, Absent septum pellucidum, Microcephaly, Lobar holoprosenc...	OMIM:618500
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia	OMIM:212138
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoglycemia, Polyhydramnios, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis,...	OMIM:617156
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormality of the diencephalon	ORPHA:2720
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
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
Reni Syndrome	Cryptorchidism, Hypoglycemia, Edema	OMIM:617575
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pullin...	OMIM:620330
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia	OMIM:617950
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short attention span, Aggressive behavior, Unsteady gait, Choreoathetosis, Seizure, Hypertonia, H...	ORPHA:17
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Infantile spasms, Chorea, Focal tonic seizure, Generalized non-motor (absence) seizure, Impaired ...	ORPHA:404454
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinoma, Microvesicular hepatic steat...	OMIM:256810
Partington Syndrome	Lower limb spasticity, Gait disturbance, EEG abnormality	ORPHA:94083
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis...	OMIM:615474
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Absent septum pellucidum, Microcephaly, Ovotestis, Hydrocephalus, Hypoplasia of the ...	OMIM:309801
Brody Disease	Somatic sensory dysfunction, Fasciculations	OMIM:601003
Microphthalmia, Syndromic 3	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Microcephaly, Cryptorc...	OMIM:206900
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus...	ORPHA:2318
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Neonatal death, Seizure, Ataxia, Myoclonus	OMIM:619167
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Semilobar holoprosencephaly, Ho...	ORPHA:556955
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia, Hydrocephalus, Temporal lobe dysplasia	OMIM:187600
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:615160
Citrullinemia Type Ii	Restlessness, Hyperactivity, Confusion, Abnormal eating behavior, Aggressive behavior, Seizure, I...	ORPHA:247585
Perlman Syndrome	Hypoglycemia, Polyhydramnios, Edema, Cryptorchidism, Pancreatic islet-cell hyperplasia, Ascites	OMIM:267000
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Dehydration	OMIM:251100
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia	ORPHA:348
Kinsship Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo...	OMIM:619297
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypoglycemia, Microvesicular hepatic steatosis, Splenomegaly, Mac...	OMIM:619418
Smith-Kingsmore Syndrome	Cryptorchidism, Rhizomelia, Hypoglycemia	OMIM:616638
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Cryptorchidism, Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst, Delayed puberty	OMIM:300967
Weaver Syndrome	Seizure, Polyphagia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:277590
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Microcephaly, Periventricular heterotopia, Epispadias, Partial agenesis ...	OMIM:615948
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Abnormal cortical gyration, Microcephaly, Cryptorchidism, Partial agenesis of t...	OMIM:210710
Multifocal Motor Neuropathy	Fasciculations, Motor conduction block	ORPHA:641
Inclusion Body Myopathy And Brain White Matter Abnormalities	Babinski sign, Fasciculations, Cognitive impairment	OMIM:619733
Sialuria	Memory impairment, Seizure, Hyperkinetic movements, Attention deficit hyperactivity disorder	ORPHA:3166
Cholera	Hypoglycemia, Dehydration	ORPHA:173
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ...	OMIM:601707
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Hypoglycemia, Polyhydramnios, Edema, Cryptorchidism	OMIM:607143
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Myoclonus, Weight loss	OMIM:256700
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Ataxia, Paralysis, Dementia, Status epilepticus, Myoclonus, Hyperto...	OMIM:203700
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Babinski sign, Limb hypertonia	ORPHA:423479
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Seizure, Low frustration tolerance, Abnormal repetitive mannerisms, S...	OMIM:300486
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Enlarged polycystic ovaries, Insulin resistance, Fasting hyperinsulinemia, Insu...	ORPHA:2298
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Dehydration, Hepatosplenomegaly, Cirrhosis, Pancreatitis, Exocri...	OMIM:219700
Periventricular Nodular Heterotopia 9	Focal-onset seizure, Gray matter heterotopia, Attention deficit hyperactivity disorder, Compulsiv...	OMIM:618918
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Short stature, Hypoglycemia, Intrahepatic cholestasis, Hepatitis, Chronic hepatitis...	OMIM:614921
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hypoglycemia	OMIM:616355
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:229700
Warburg Micro Syndrome 3	Lower limb spasticity, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, An...	OMIM:614222
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Periventricular Nodular Heterotopia	Focal-onset seizure, Periventricular heterotopia	ORPHA:98892
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Hypoglycemia	OMIM:210200
Immunodeficiency, Common Variable, 10	Hypoglycemia, Decreased response to growth hormone stimulation test	OMIM:615577
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Progressive neurologic d...	OMIM:614947
Rheumatic Fever	Anorexia, Chorea, Gait disturbance, Hemiballismus, Fasciculations	ORPHA:3099
Glass Syndrome	Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Freque...	OMIM:612313
Man1B1-Cdg	Seizure, Polyphagia, Periventricular heterotopia	ORPHA:397941
14Q22Q23 Microdeletion Syndrome	Small scrotum, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchid...	ORPHA:264200
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Hypoglycemia	OMIM:617710
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypertonia, Bilateral tonic-clonic seizure	ORPHA:79350
Chromosome 13Q14 Deletion Syndrome	Absent septum pellucidum, Supernumerary nipple, Cryptorchidism, Holoprosencephaly, Hypoplasia of ...	OMIM:613884
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum, Thyroid C cell hyperplasia	OMIM:300952
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Decreased nerve conduction velocity, Sp...	OMIM:609136
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Short stature, Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Short stature, Hypertonic dehydration	OMIM:304800
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Seizure, Progressive cerebell...	OMIM:208900
Pediatric-Onset Graves Disease	Hyperactivity, Tremor, Irritability, Hyperkinetic movements, Emotional lability, Polydipsia, Fail...	ORPHA:525731
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Incoordination, Anorexia,...	ORPHA:297
Orofaciodigital Syndrome Vi	Porencephalic cyst, Hypothalamic hamartoma, Occipital meningocele, Periventricular nodular hetero...	OMIM:277170
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Focal motor seizure, Irritability, Seizure, Hypertonia, Febrile seizure (withi...	ORPHA:1675
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Seizure, Abnormality of neuronal migration	ORPHA:2518
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Mucopolysaccharidosis, Type Iiic	Seizure, Hyperactivity, Motor deterioration, Dysphagia	OMIM:252930
Cocaine Intoxication	Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse...	ORPHA:90068
Pseudohypoparathyroidism Type 1C	Confusion, Depression, Irritability, Paresthesia, Myoclonic spasms, Polyphagia, Hypocalcemic seiz...	ORPHA:79444
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia	OMIM:614739
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea...	OMIM:201475
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia	OMIM:255120
Pontocerebellar Hypoplasia, Type 1D	Spasticity, Tongue fasciculations, Fasciculations, Oral-pharyngeal dysphagia	OMIM:618065
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Status epilepticus, Myocl...	OMIM:301072
Cystinosis, Nephropathic	Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Dehydration, Growth delay, Glycosur...	OMIM:219800
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Cryptorchidism, Hypoglycemia	OMIM:614736
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum, Rectovaginal fistula	ORPHA:1780
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Short stature, Decreased response ...	ORPHA:90695
Glucose-Galactose Malabsorption	Dehydration	ORPHA:35710
Orofaciodigital Syndrome Type 3	Oculomotor apraxia, Spasticity, Myoclonus, Focal seizure with eyelid myoclonia	ORPHA:2752
Rabson-Mendenhall Syndrome	Enlarged ovaries, Short stature, Impaired glucose tolerance, Insulin resistance, Fasting hyperins...	ORPHA:769
Microvillus Inclusion Disease	Dehydration	ORPHA:2290
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Peritonitis, Pancreatitis, Dehydration	ORPHA:90038
Immunodeficiency 23	Somatic sensory dysfunction, Ataxia, Myoclonus, Cortical myoclonus	OMIM:615816
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Microcephaly, Meningocele, Agonadism, Abnormality ...	ORPHA:991
Silver-Russell Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Insulin resistance, Recurrent hypogl...	ORPHA:813
Combined Oxidative Phosphorylation Deficiency 3	Bilateral tonic-clonic seizure, Ataxia, Tremor, Seizure, Cognitive impairment	OMIM:610505
Microsporidiosis	Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Peritonitis, Biliar...	ORPHA:2552
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen...	ORPHA:652
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis	ORPHA:26791
Orofaciodigital Syndrome Type 6	Bilateral cryptorchidism, Abnormality of neuronal migration, Hypothalamic hamartoma, Aplasia/Hypo...	ORPHA:2754
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Seizure, Typical absence seizure, Polymicrogyria	OMIM:618343
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Biotinidase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Seizure, Spastic p...	ORPHA:79241
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology	ORPHA:464321
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Dysplastic corpus ...	ORPHA:466791
Fg Syndrome Type 1	Broad-based gait, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnorm...	ORPHA:93932
Pituitary Apoplexy	Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circulating growth ...	ORPHA:95613
Myopathy, Myofibrillar, 2	Fasciculations, Dysphagia	OMIM:608810
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Diabetes mellitus, Diabetes insipidus, Microcephaly, Cryptorc...	ORPHA:2162
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Aplasia of the vagina, Hypoplasia of the corpus callosum, Aplasia of the uterus, A...	ORPHA:457284
Pseudohypoparathyroidism Type 1A	Confusion, Involuntary movements, Obesity, Depression, Choreoathetosis, Irritability, Myoclonic s...	ORPHA:79443
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Abnormal repetitive mannerisms, Par...	OMIM:619512
Tyrosinemia, Type I	Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay, Pancreatic islet-cell hyperplasia, Cirrho...	OMIM:276700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Tetraplegia, Irritability, Seizure, Myoclonus, Failure to thrive	OMIM:618278
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spasticity	OMIM:618426
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Mitochondrial Dna-Associated Leigh Syndrome	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Gait ataxia, Seizure, Hypertoni...	ORPHA:255210
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Paresthesia, Myoclonic spasms	ORPHA:94090
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Pseudohypoparathyroidism Type 1B	Irritability, Myoclonic spasms, Hypocalcemic seizures, Depression	ORPHA:94089
Hermansky-Pudlak Syndrome 10	EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure	OMIM:617050
Lujo Hemorrhagic Fever	Resting tremor, Bilateral tonic-clonic seizure, Confusion, Seizure, Dysphagia, Mental deterioration	ORPHA:319213
White-Kernohan Syndrome	Dysplastic corpus callosum, Rectovaginal fistula, Hypothyroidism	OMIM:619426
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Jaundice, Growth delay, Intrauterine gro...	OMIM:608779
Lysosomal Acid Lipase Deficiency	Hypersplenism, Microvesicular hepatic steatosis, Jaundice, Dehydration, Hepatosplenomegaly, Hepat...	ORPHA:275761
Mitochondrial Trifunctional Protein Deficiency 1	Hydrops fetalis, Cholestasis, Hypoketotic hypoglycemia	OMIM:609015
Mirage Syndrome	Short stature, Hypoglycemia, Cryptorchidism, Intrauterine growth retardation, Hypoplastic spleen,...	OMIM:617053
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Pituitary dwarfism, Hypoglycemia, Anterior pituitary hypoplasia, Dec...	ORPHA:226307
Genitopatellar Syndrome	Small scrotum, Enlarged labia minora, Microcephaly, Periventricular heterotopia, Cryptorchidism, ...	OMIM:606170
Poretti-Boltshauser Syndrome	Oculomotor apraxia, Gray matter heterotopia	OMIM:615960
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Caudate atrophy, Reduced cerebral white matter volume, Microcephaly, Co...	OMIM:615574
Glutaric Acidemia I	Hepatomegaly, Hypoglycemia	OMIM:231670
Joubert Syndrome With Hepatic Defect	Ataxia, Tremor, Abnormality of neuronal migration, Gait disturbance, Oculomotor apraxia	ORPHA:1454
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Intrauterine growth retardation, Short stature, Polyhydramnios, Hypoglycemia	OMIM:618005
Farber Disease	Infantile spasms, Paraparesis, Seizure, Myoclonus, Spasticity, Failure to thrive	ORPHA:333
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Short stature, Hypoglycemia, Prolonged neonatal jaundice	OMIM:233600
O'Sullivan-Mcleod Syndrome	Tremor, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	ORPHA:369837
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, D...	OMIM:615873
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:614231
W Syndrome	Spasticity, Bilateral tonic-clonic seizure	ORPHA:2804
Infantile Nephropathic Cystinosis	Growth delay, Dehydration, Glycosuria	ORPHA:411629
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	ORPHA:1860
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Partial agenesis of the corpus callosum, ...	OMIM:270400
Autosomal Dominant Hypocalcemia	Emotional lability, Cortical myoclonus, Depression	ORPHA:428
Mitochondrial Trifunctional Protein Deficiency 2	Seizure, Bilateral tonic-clonic seizure	OMIM:620300
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Intrauterine growth retardation, Hypoglycemia, Cerebral edema	OMIM:619355
Fanconi-Bickel Syndrome	Hepatomegaly, Postnatal growth retardation, Intrahepatic cholestasis, Fasting hypoglycemia, Glyco...	OMIM:227810
Partington Syndrome	EEG abnormality, Seizure, Lower limb spasticity, Infantile spasms	OMIM:309510
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Intrauterine growth retardation, Hypoglycemia	OMIM:620275
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	OMIM:219730
Tuberous Sclerosis Complex	Epileptic spasm, Hyperactivity, Infantile spasms, Aggressive behavior, Impulsivity, Focal-onset s...	ORPHA:805
Primary Fanconi Renotubular Syndrome	Growth delay, Hypoglycemia, Dehydration, Glycosuria	ORPHA:3337
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Glycerol Kinase Deficiency	Short stature, Hypoglycemia, Chronic pancreatitis, Cryptorchidism, Growth delay	OMIM:307030
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Hypoglycemia, Pituitary adenoma, Adrenocorticotropic hormone deficiency, Hepa...	ORPHA:199299
Shashi-Pena Syndrome	Intrauterine growth retardation, Hypoglycemia	OMIM:617190
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia	ORPHA:228305
Dilated Cardiomyopathy With Ataxia	Bilateral cryptorchidism, Microvesicular hepatic steatosis, Growth delay, Intrauterine growth ret...	ORPHA:66634
Vici Syndrome	Schizencephaly, Microcephaly, Gray matter heterotopia, Abnormal thymus morphology, Penile hypospa...	OMIM:242840
Blue Diaper Syndrome	Recurrent hypoglycemia, Increased proinsulin:insulin ratio	ORPHA:94086
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Seizure	ORPHA:531151
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Short stature, Polyhydramnios, Dehydration	OMIM:601678
Renal Hypoplasia	Dehydration	ORPHA:93101
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy, Cerebral atrophy	OMIM:160900
Combined Oxidative Phosphorylation Deficiency 37	Bile duct proliferation, Macrovesicular hepatic steatosis, Hypoglycemia	OMIM:618329
Isolated Complex I Deficiency	Hepatomegaly, Diabetes mellitus, Hypoglycemia, Intrauterine growth retardation	ORPHA:2609
Developmental And Epileptic Encephalopathy 89	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, EEG with burst suppressio...	OMIM:619124
Nephrogenic Diabetes Insipidus	Growth delay, Hypernatremic dehydration, Short stature, Polyhydramnios	ORPHA:223
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Short stature, Dehydration, Growth delay, Glycosuria	ORPHA:47159
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure	OMIM:618165
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Hepatic steatosis, Cerebral edema	ORPHA:99901
Sheehan Syndrome	Hypoglycemia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency...	ORPHA:91355
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Cryptorchidism, Rectoperineal fistula, Agenesis of corpus callosum	OMIM:618748
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized myoclonic...	OMIM:614756
Zttk Syndrome	Absent gallbladder, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Hypopl...	OMIM:617140
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Typical absence seizure, Seizure, Dy...	ORPHA:268261
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Growth delay, Short stature, Decreased response to growth hormone stimulation test, Hypoglycemia	OMIM:616007
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame...	OMIM:235200
Rajab Interstitial Lung Disease With Brain Calcifications 1	Short stature, Hypoglycemia, Portal hypertension, Cholestasis, Growth delay, Anasarca, Bile duct ...	OMIM:613658
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Alobar holoprosencephaly, Microcephaly, Colpocephaly, Agenesis of corpus c...	OMIM:301043
Listeriosis	Ataxia, Tremor, Hemiparesis, Irritability, Seizure, Myoclonus	ORPHA:533
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Macroorchidism, Jaundice, Adrenal hyperplasia, Hypoglycemia	ORPHA:90790
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Neonatal hypoglycemia, Intrauterine growth retardation	ORPHA:565624
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Short stature, Cryptorchidism, Dehydration, Joint swelling, Delayed puberty	ORPHA:534
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Self-injurious behavior, Hypertonia, Gait disturbance, Progres...	ORPHA:192
Pgm3-Cdg	Ataxia, Seizure, Myoclonus, Failure to thrive, Cortical myoclonus	ORPHA:443811
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Seizure, Polymicrogyria	OMIM:614887
Marburg Hemorrhagic Fever	Hypoglycemia, Orchitis, Jaundice, Dehydration, Pancreatitis	ORPHA:99826
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma...	ORPHA:1359
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia	ORPHA:159
Timothy Syndrome	Hypoglycemia	OMIM:601005
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Short stature, Hypoglycemia, Delayed puberty, Hepatocellular adenoma, Hypoglycemic ...	ORPHA:79259
Full Schwannomatosis	Hypoesthesia, Paresthesia, Fasciculations	ORPHA:93921
Joubert Syndrome 1	Hemifacial spasm, Hyperactivity, Ataxia, Aggressive behavior, Oculomotor apraxia, Self-mutilation	OMIM:213300
Prader-Willi Syndrome Due To Translocation	Obesity, Head-banging, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, I...	ORPHA:177907
Holoprosencephaly 1	Diabetes insipidus, Adrenal hypoplasia, Microcephaly, Alobar holoprosencephaly, Micropenis, Ethmo...	OMIM:236100
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Impaired pain sensation, Typical absence seizure, Seizure, Gray matter heterotopia, Bruxism	ORPHA:453504
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Chronic pancreatitis, Delayed puberty, Hepa...	OMIM:232240
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Impaired pain sensation, Typical absence seizure, Seizure, Gray matter heterotopia, Bruxism	ORPHA:352665
Aica-Ribosuria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia, Supernumerary nipple	ORPHA:457279
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Diffuse hepatic steatosis, Cholestasis, Hypoketotic hypoglycemia	ORPHA:746
Chronic Visceral Acid Sphingomyelinase Deficiency	Ataxia, Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Depres...	ORPHA:77293
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Myoclonic spasms	OMIM:252150
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Juvenile Nephropathic Cystinosis	Growth delay, Dehydration, Glycosuria	ORPHA:411634
Witteveen-Kolk Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Mi...	OMIM:613406
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased response to growth hormone stimulation test, Postnatal growth retardation, Cryptorchidi...	ORPHA:96182
Deeah Syndrome	Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu...	OMIM:619004
Oligomeganephronia	Dehydration	ORPHA:2260
Argininemia	Seizure, Hyperactivity, Irritability, Anorexia	OMIM:207800
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Benign Samaritan Congenital Myopathy	Fasciculations	ORPHA:324581
Scorpion Envenomation	Restlessness, Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Paresthesia, Myo...	ORPHA:466677
Miller-Dieker Lissencephaly Syndrome	Epileptic spasm, Infantile spasms, Seizure, Gray matter heterotopia, Lissencephaly, Pachygyria, A...	OMIM:247200
Distal Renal Tubular Acidosis	Growth delay, Short stature, Dehydration	ORPHA:18
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Neonatal hypoglycemia	ORPHA:457485
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Periventricular leukomalacia, Dysplastic corpus callosum, Simplified gyral pa...	ORPHA:500150
Orthostatic Hypotension 1	Neonatal hypoglycemia, Reduced circulating prolactin concentration	OMIM:223360
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure	ORPHA:3044
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Fasciculations, Dysgyria, Limb hypertonia	OMIM:620327
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Microcephaly, Cryptorchidism, Abnormality of neuronal migration, Posterior pituitary...	ORPHA:464311
Colchicine Poisoning	Dehydration	ORPHA:31824
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca...	OMIM:301044
Bickerstaff Brainstem Encephalitis	Abnormal thalamic MRI signal intensity	ORPHA:79138
Neurogenic Arthrogryposis Multiplex Congenita	Fasciculations	ORPHA:1143
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re...	OMIM:124000
Postpoliomyelitis Syndrome	Fasciculations, Dysphagia	ORPHA:2942
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Attention deficit hyperactivity disorder, Periventricular heterotopia	OMIM:618870
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Abnormal repetitive mannerisms, Seizure, Spasticity, Bilateral tonic-clonic seizure	OMIM:301040
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Infantile spasms	OMIM:618797
Netherton Syndrome	Hypernatremic dehydration, Angioedema	OMIM:256500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pericardial effusion, Hepatomegaly, Jaundice, Hypoketotic hypoglycemia	ORPHA:26793
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Short stature, Neonatal hypoglycemia	ORPHA:35173
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Van Maldergem Syndrome 2	Bifid scrotum, Hypospadias, Periventricular nodular heterotopia, Cryptorchidism, Subcortical band...	OMIM:615546
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Short stature, Testicular adrenal rest tumor, Dehydration, Decreased testicular size, Neonatal hy...	ORPHA:90794
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Bilateral tonic-clonic seizure	ORPHA:436159
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Amoebiasis Due To Free-Living Amoebae	Abnormal basal ganglia morphology, Abnormal hypothalamus morphology, Abnormal cerebral white matt...	ORPHA:68
Neuroleptic Malignant Syndrome	Dehydration	ORPHA:94093
Holoprosencephaly 2	Diabetes insipidus, Adrenal hypoplasia, Alobar holoprosencephaly, Microcephaly, Holoprosencephaly...	OMIM:157170
Lathosterolosis	Seizure, Failure to thrive, Myoclonus	ORPHA:46059
Koolen-De Vries Syndrome	Gray matter heterotopia, Seizure, Hyperactivity, Impulsivity	OMIM:610443
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Adrenal hypoplasia, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Gray ...	OMIM:214100
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Atonic seizure, Truncal ataxia, Bilateral tonic-clonic seizure	OMIM:620066
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Cerebral atrophy, Hypothyroidism, Testicular atrophy	OMIM:222300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hemiparesis, Paraparesis, Bilateral tonic-clonic seizure, Paraplegia	ORPHA:79124
Webb-Dattani Syndrome	Spasticity, Bilateral tonic-clonic seizure	OMIM:615926
Sotos Syndrome	Cryptorchidism, Glucose intolerance, Neonatal hypoglycemia, Prolonged neonatal jaundice	OMIM:117550
Kabuki Syndrome 2	Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neonatal hypoglycemia	OMIM:300867
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ...	ORPHA:353281
Hereditary Fructose Intolerance	Growth delay, Hepatomegaly, Jaundice, Reactive hypoglycemia	ORPHA:469
Van Maldergem Syndrome 1	Hypospadias, Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Hyp...	OMIM:601390
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Hypoglycemia	OMIM:615751
Bannayan-Riley-Ruvalcaba Syndrome	Short stature, Hypoglycemia, Lymphedema	ORPHA:109
Mend Syndrome	Hyperactivity, Failure to thrive, Aggressive behavior, Seizure, Abnormal social behavior, Limb hy...	ORPHA:401973
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity, Seizure, Bilateral tonic-clonic seizure	OMIM:261515
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay, Cerebral edema	OMIM:252010
Pseudoleprechaunism Syndrome, Patterson Type	Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:2976
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Insulin resistance, Hyperinsulinemi...	ORPHA:508
Alg12-Cdg	Polyhydramnios, Edema, Cryptorchidism, Recurrent hypoglycemia, Intrauterine growth retardation	ORPHA:79324
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Gaucher Disease	Bilateral tonic-clonic seizure, Ataxia, Tremor, Hemiplegia/hemiparesis, Oculomotor apraxia, Depre...	ORPHA:355
Hallermann-Streiff Syndrome	Choreoathetosis, Hyperactivity, Bilateral tonic-clonic seizure	OMIM:234100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Self-injurious ...	OMIM:612474
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti...	ORPHA:465508
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Cholelithiasis	OMIM:301066
Hyperoxaluria, Primary, Type I	Dehydration	OMIM:259900
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hypoglycemia, Polyhydramnios, Cryptorchidism, Splenomegaly, Abnormal pancreas morph...	ORPHA:116
X Small Rings	Seizure, Bilateral tonic-clonic seizure	ORPHA:96201
Fontaine Progeroid Syndrome	Death in infancy, Small scrotum, Absent nipple, Microcephaly, Periventricular heterotopia, Crypto...	OMIM:612289
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Generalized non-motor (absence) seizure	ORPHA:293978
Glycogen Storage Disease Of Heart, Lethal Congenital	Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Neonatal hypoglycemi...	OMIM:261740
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Seizure, Impaired pain sensation, Bruxism	ORPHA:453499
Amyotrophy, Monomelic	Fasciculations	OMIM:602440
Severe Generalized Junctional Epidermolysis Bullosa	Growth delay, Edema, Dehydration	ORPHA:79404
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Abnormality of neuronal migration, Holoprosencephaly, Microcephaly	ORPHA:3186
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hypoglycemia, Supernumerary nipple, Polyhydramnios, Cryptorchidism, Splenomegaly, P...	ORPHA:373
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Phonic tics, Depression, Choreoathetosis, Dementia, Dysphagia, Mental dete...	OMIM:234200
Dyskeratosis Congenita, Autosomal Recessive 2	Cerebral calcification, Testicular atrophy	OMIM:613987
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Increased theta frequency activity i...	ORPHA:459070
Histiocytoid Cardiomyopathy	Hepatomegaly, Pulmonary edema, Hypoglycemia, Polycystic ovaries	ORPHA:137675
Generalized Glucocorticoid Resistance Syndrome	Adrenal hyperplasia, Hypoglycemia	ORPHA:786
Addison Disease	Hypoparathyroidism, Primary testicular failure, Hypoglycemia, Delayed puberty, Type I diabetes me...	ORPHA:85138
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Epileptic spasm, Exaggerated startle response, Involuntary movements, Seizure, Myoclonus, Dysphag...	ORPHA:438213
Bartter Syndrome, Type 2, Antenatal	Short stature, Polyhydramnios, Dehydration	OMIM:241200
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Bilateral tonic-clonic seizure, Gait ataxia, Myoclonic seizure, Seizure, Violent behavior	OMIM:280000
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Focal-onset seizure, Typical absence seizure, Atonic seizure, Short attention span	OMIM:617157
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia	OMIM:616878
Wars2-Related Combined Oxidative Phosphorylation Defect	Intrauterine growth retardation, Neonatal hypoglycemia	ORPHA:572798
Oliver Syndrome	Bilateral tonic-clonic seizure	ORPHA:2920
Fructose Intolerance, Hereditary	Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Hepatic steatosis	OMIM:229600
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Bilateral tonic-clonic seizure, Impaired social interactions, Gait ataxia	ORPHA:457359
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Generalized-onset seizure, Small for gestational age, Focal hemiclonic seizure, F...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Generalized-onset seizure, Small for gestational age, Focal hemiclonic seizure, F...	ORPHA:363958
Bartter Syndrome Type 4	Polyhydramnios, Dehydration	ORPHA:89938
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:2636
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hypoglycemia	OMIM:210210
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity	ORPHA:284339
Menkes Disease	Intrauterine growth retardation, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:565
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
3-Methylglutaconic Aciduria, Type Viii	Growth delay, Jaundice, Neonatal death, Neonatal hypoglycemia	OMIM:617248
Williams Syndrome	Death in early adulthood, Hypoplasia of penis, Hypogonadotropic hypogonadism, Atrophy/Degeneratio...	ORPHA:904
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cryptorchidism, Pancreatic hyperplasia, Hepatoblastoma, Neonatal hypoglycemia	OMIM:130650
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
Nijmegen Breakage Syndrome	Mental deterioration, Abnormality of neuronal migration, Attention deficit hyperactivity disorder	ORPHA:647
Sotos Syndrome	Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Sei...	ORPHA:821
Ogden Syndrome	Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Irritability, Hypertonia,...	OMIM:300855
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Oligohydramnios	ORPHA:1848
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	EEG abnormality, Spasticity, Seizure, Myoclonus	OMIM:253280
African Trypanosomiasis	Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Ag...	ORPHA:3385
Acute Liver Failure	Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Hepatic periportal ...	ORPHA:90062
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia	OMIM:610768
Acute Adrenal Insufficiency	Hypoglycemia, Delayed puberty	ORPHA:95409
Intellectual Developmental Disorder, X-Linked 29	Seizure, Babinski sign	OMIM:300419
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia	OMIM:614501
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Hypospadias, Focal hypointensity of cerebral white matter on MRI, Septate vagina, ...	ORPHA:261537
Alström Syndrome	Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado...	ORPHA:64
Arima Syndrome	Gray matter heterotopia, Polydipsia, Ataxia	OMIM:243910
Doors Syndrome	EEG abnormality, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure	ORPHA:79500
Fabry Disease	Paresthesia, Fasciculations	OMIM:301500
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Hypergly...	OMIM:220111
Carpenter Syndrome 2	Generalized non-motor (absence) seizure	OMIM:614976
Mowat-Wilson Syndrome	Ataxia, Impaired pain sensation, Periventricular heterotopia, Focal-onset seizure, Dysphagia, Sei...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Hypospadias, Focal hypointensity of cerebral white matter on MRI, Septate vagina, ...	ORPHA:261552
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Abnormal cerebral white matter morphology, Dilated third ventricle, Cerebral atrophy	ORPHA:314404
Norrie Disease	Diabetes mellitus, Microcephaly, Cryptorchidism, Delayed puberty, Erectile dysfunction, Uterine r...	ORPHA:649
Costello Syndrome	Short stature, Polyhydramnios, Hypoglycemia	OMIM:218040
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Histidinemia	Hyperactivity	ORPHA:2157
Orofaciodigital Syndrome Type 2	Bilateral tonic-clonic seizure	ORPHA:2751
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypoglycemia, Cryptorchidism, Polycystic ovaries, Ovarian cyst, Oligohydramnios	OMIM:201750
Kabuki Syndrome 1	Seizure, Lateral ventricle dilatation, Focal impaired awareness seizure, Bilateral tonic-clonic s...	OMIM:147920
Neutral Lipid Storage Myopathy	Fasciculations, Difficulty walking	ORPHA:98908
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Neoplasm of the thymus, Lon...	ORPHA:744
Crimean-Congo Hemorrhagic Fever	Confusion, Agitation, Fasciculations, Anorexia	ORPHA:99827

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 Arx

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 Arx.

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

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.

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us