Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Neurod1 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Megalencephaly With Dysmyelination
Megalencephaly, EEG with photoparoxysmal response, Seizure, Ataxia, Spasticity, Abnormal cerebral... OMIM:249240
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Jerky head movements, Torticollis, Focal dyston... ORPHA:98807
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
Megalencephaly, Diffuse swelling of cerebral white matter, Seizure, Ataxia, Spasticity, Diffuse s... OMIM:604004
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Seizure, Pachygyria, Ataxia, Inability to walk, EEG abnormality, Cerebellar ... OMIM:618174
Angelman syndrome (Type 1)
Seizure, EEG abnormality, Truncal ataxia, Microcephaly DECIPHER:4
Angelman syndrome (Type 2)
Seizure, EEG abnormality, Truncal ataxia, Microcephaly DECIPHER:54
Intellectual Developmental Disorder, Autosomal Recessive 53
Seizure, Ataxia, EEG with focal spikes, Cerebellar hypoplasia, Cerebral atrophy, Hypoplasia of th... OMIM:616917
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Cerebellar atrophy, Myoclonic seizure, Bilateral tonic-clonic seizu... OMIM:611726
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:610003
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, EEG with focal epileptiform discharges, Cerebral hypoplasia, Bilateral toni... ORPHA:101071
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Cerebellar atrophy, Bilateral tonic-clonic seizure, Rigidity, Fa... OMIM:300423
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... OMIM:618587
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Spastic tetraplegia, Seizure, Hyperactivity, Progressive microcephaly, Inability t... OMIM:616657
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Continuous spike and waves during slow sleep, Focal impaired awar... OMIM:245570
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Rare Non-Syndromic Intellectual Disability
Dystonia, Bilateral tonic-clonic seizure, Dysgenesis of the basal ganglia, Absent septum pellucid... ORPHA:101685
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:601068
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Stereotypy, Seizure, Ataxia, Hydrocephalus, Attention defici... OMIM:618709
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, EEG with focal epileptiform discharges, Paresthesia, Bilateral tonic-clon... ORPHA:98820
Jeavons Syndrome
EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... ORPHA:139431
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Motor tics OMIM:300830
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Stereotypy, Seizure, Ataxia, Progressive microcephaly, Tremor, Hypoplasia of ... OMIM:617862
Continuous Spikes And Waves During Sleep
Clumsiness, Interictal epileptiform activity, Focal impaired awareness seizure, Seizure, Continuo... ORPHA:725
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Dystonia, Generalized non-motor (absence) seizure, Tonic seizure, Bilat... OMIM:619317
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Seizure, Ataxia, EEG abnormality, Spasticity, Microcephaly OMIM:619228
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:36387
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
New-Onset Refractory Status Epilepticus
Cerebellar edema, Focal T2 hyperintense basal ganglia lesion, Focal impaired awareness seizure, B... ORPHA:363558
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Cerebellar atrophy, Toni... OMIM:618917
Pontocerebellar Hypoplasia, Type 14
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Myoclonic sei... OMIM:619301
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Continuous spike and waves during slow sleep, EEG with generalized epileptiform discharges, Speec... ORPHA:163721
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Large basal ganglia, Chorea, EEG with generaliz... ORPHA:88616
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities
Seizure, Status epilepticus, Attention deficit hyperactivity disorder, Gait ataxia, Microcephaly OMIM:618687
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:613608
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Jerky head movements, Fr... ORPHA:157941
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Simplified gyral pattern, Seizure, Hyperactivity, Progressive microcephaly, A... OMIM:613402
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... OMIM:615127
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Dystonia, Bilateral tonic-clonic seizure, Infantile spas... OMIM:619302
Unilateral Focal Polymicrogyria
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... ORPHA:268947
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Leukoencephalopathy, Abnormality of extrapyramidal motor function, Se... OMIM:614561
Immunodeficiency 8
Hyperactivity OMIM:615401
Episodic Ataxia, Type 9
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Cerebellar edema, Seizure, Clonic seizur... OMIM:618924
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Focal impaired a... ORPHA:330050
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Gait imbalance, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, EEG wit... ORPHA:488635
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Seizure, Hyperactivity, Inability to w... OMIM:618090
Developmental And Epileptic Encephalopathy 56
Poor coordination, Seizure, Ataxia, Status epilepticus, EEG abnormality, Broad-based gait, Attent... OMIM:617665
Familial Infantile Myoclonic Epilepsy
Clumsiness, Simple febrile seizure, Gait disturbance, Cerebellar atrophy, Limb myoclonus, EEG wit... ORPHA:352582
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Paroxysmal dyskinesia, Dystonia, Chorea OMIM:611031
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... OMIM:617831
Developmental And Epileptic Encephalopathy 58
Hypsarrhythmia, Stereotypy, Seizure, Status epilepticus, Inability to walk, Spastic diplegia, Sec... OMIM:617830
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... OMIM:616645
Cortical Malformations, Occipital
Pachygyria, Polymicrogyria, EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Seizure, Continuous spike and waves during slow sleep, Interict... ORPHA:98818
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Cerebral white matter hypoplasia, Lissencephaly, Spastic tetraplegia, Seizure... OMIM:618730
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Infantile spasms, Nocturnal seizures, Abnormal neuron morphology, Foc... ORPHA:65683
Autosomal Dominant Non-Syndromic Intellectual Disability
Leukoencephalopathy, Focal impaired awareness seizure, Stereotypy, Seizure, Cerebral atrophy, Bil... ORPHA:178469
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Olivopontocerebellar Atrophy-Deafness Syndrome
Seizure, Ataxia, Hypertonia, Olivopontocerebellar atrophy, EEG abnormality, Cerebral cortical atr... ORPHA:2732
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Se... OMIM:619157
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, EEG abnormality, Cerebral atrophy OMIM:600143
Pyridoxine-Dependent Epilepsy
Hypoglycemia, Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Early... ORPHA:3006
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Phonic tics, Motor tics OMIM:137580
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Schizencephaly, Abnormal corpus callosum morphology, Simplified gyral pattern, Hemiparesis, Seizu... OMIM:604317
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Focal motor status epilepticus, Paroxysmal dyskinesia, Chorea, Falls... OMIM:619150
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, Interictal epileptiform activity, Focal impaired awarenes... ORPHA:1929
Bilateral Generalized Polymicrogyria
Stereotypy, Focal-onset seizure, Oculogyric crisis, Generalized tonic seizure, Abnormal hippocamp... ORPHA:208447
Huntington Disease-Like 3
Dystonia, Caudate atrophy, Chorea, Abnormal head movements, Abnormality of extrapyramidal motor f... ORPHA:157946
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure... ORPHA:382
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Chorea, Convulsive status epilepticus, Inability to walk, Stereotypical hand wringing, ... OMIM:618760
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... OMIM:616056
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inabili... OMIM:617810
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movem... OMIM:618425
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Cerebellar atrophy, Megalencephaly, Diffuse swelling of cereb... OMIM:613925
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Falls, EEG with focal sharp slow waves, Hyperactivity,... ORPHA:2382
Smith-Magenis syndrome
Hyperactivity, Stereotypy DECIPHER:8
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Spasticity, Secondary microcephaly, Hypoplasia of the corpus call... OMIM:616281
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Dystonia, Babinski sign, Jerky head movements, Spastic gait, Spastic dys... ORPHA:251282
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Babinski sign, Cerebellar atrophy, Bilateral tonic-clonic seizure, Frequent fal... ORPHA:93952
Late Infantile Neuronal Ceroid Lipofuscinosis
Stereotypy, Seizure, Corpus callosum atrophy, Focal-onset seizure, Cerebral atrophy, EEG with spi... ORPHA:168491
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure, Cerebellar atrophy, Cortical dysplasia, Microcephaly OMIM:608278
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Spastic tetraplegia, Stereotypy, Seizure, Clonic seizure, Hypertonia, Polymicrogyria, Secondary m... OMIM:615282
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:618873
Periventricular Nodular Heterotopia 8
Seizure, Spasticity, Attention deficit hyperactivity disorder, Microcephaly OMIM:618185
Alternating Hemiplegia Of Childhood 1
Dystonia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Tetraplegia, Ep... OMIM:104290
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Stereotypy, Seizure, Generalized myoclonic seizure OMIM:616341
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Seizure, Tremor, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... ORPHA:306
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Seizur... OMIM:604213
Developmental And Epileptic Encephalopathy 45
Seizure, Ataxia, Hypoplasia of the corpus callosum, Hypsarrhythmia OMIM:617153
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bilateral tonic-clonic seizure, Rigidity, Bradykinesia, Tremor, Ataxia, EEG abnormality... OMIM:617836
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Simplified gyral pattern, Stereotypy, Seizure, Hyperactivity, Periventricular white matter hyperi... OMIM:619470
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset, Cerebellar atrophy, EEG abnormality OMIM:617643
N-Acetylaspartate Deficiency
Stereotypy, Seizure, Truncal ataxia, Unsteady gait, Microcephaly OMIM:614063
Microlissencephaly
Cerebellar atrophy, Neuronal loss in the cerebral cortex, Simplified gyral pattern, Lissencephaly... ORPHA:1083
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Interictal epileptiform activity, EEG with spike-wave complexes, ... OMIM:254800
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Focal impaired awareness seizure, Seizure... ORPHA:208441
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Stereotypy, Seizure, Spasticity, Cerebral atrophy, Difficulty walking, Microcephaly OMIM:617393
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Juvenile Huntington Disease
Dystonia, Neuronal loss in basal ganglia, Cerebellar atrophy, Rigidity, Chorea, Myoclonus, Bradyk... ORPHA:248111
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Hyperglycemia, Myoclonic seizure, Hypsarrhythmia, Bilateral tonic... OMIM:618856
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Abnormality of the urinary system, Macroglossia, Hyperglycemia, Diabetic ketoa... ORPHA:99886
Cln5 Disease
Clumsiness, Seizure, Corpus callosum atrophy, Focal-onset seizure, EEG with spike-wave complexes,... ORPHA:228360
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Typical absence seizure, Cerebellar dysplasia, Hypoplasia of the pons, Seizure, C... ORPHA:101070
Severe Canavan Disease
Babinski sign, Megalencephaly, Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Sei... ORPHA:314911
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Lower limb spasticity, Bilateral ton... OMIM:619639
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Choreoathetosis, Myoclonus, Abnormal ... ORPHA:561854
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Seizu... OMIM:615362
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Multifocal epileptiform discharges, S... OMIM:609056
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Hyperglycemia, Malabso... OMIM:615710
Alpers-Huttenlocher Syndrome
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... ORPHA:726
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Focal tonic seizure, Cho... ORPHA:485350
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... OMIM:614417
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Seizure, Hyperactivity, Ataxia, Tremor, Tetraparesis, Cerebral atrophy, Spas... OMIM:615924
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Po... ORPHA:86909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Retinal dysplasia OMIM:615041
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Periventricular white mat... OMIM:301008
Pyknoachondrogenesis
Stillbirth OMIM:265880
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Falls, Chin myoclonus, Focal seizu... ORPHA:139426
Hyperreflexia
Abnormality of retinal pigmentation, Ankle clonus OMIM:145290
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Spastic hemiparesi... OMIM:619616
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:289266
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function... ORPHA:385
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Clumsiness, Cerebellar atrophy, Bilateral tonic-clonic seizure, Frequent falls, EEG with generali... ORPHA:1947
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity dis... OMIM:619191
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Bilateral tonic-clonic seizure, Abnormality of extrapyramidal motor function, F... ORPHA:275864
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Pigmentary retinopathy OMIM:520000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Esophageal varix, Dehydration, Hepatic cysts, Tubulointerstitial ... OMIM:263200
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Pseudobulbar paralysis, Polymicrogyria, Bilateral tonic-clonic seizure OMIM:300388
Developmental And Epileptic Encephalopathy 97
Hypsarrhythmia, Seizure, Tremor, Inability to walk, Stereotypical hand wringing, Epileptic spasm OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Cerebellar atrophy, Seizure, Ataxia, Spasticity, Limb ataxia, Gait ataxia, Microce... OMIM:614322
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Renal tubular dysfunction, Pancreatic hypoplasia, Hyperglycemia,... ORPHA:99885
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Hypsarrhythmia, Spastic tetraplegia, Tremor, EEG with burst suppr... OMIM:612164
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Leukoencephalopathy, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Ce... OMIM:204300
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Schizencephaly, Spastic tetraplegia, Porencephalic cyst, Polymicr... OMIM:614483
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Simplified gyral pattern, Seizure, Cerebellar hypoplasia, Attention defici... OMIM:608716
Leber Congenital Amaurosis 2
Eye poking, Cerebellar vermis hypoplasia, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic dysar... ORPHA:313772
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gl... OMIM:261680
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar cyst, Seizure, Polymicrogyria, Cerebral atrophy, Partial agenesis of the corpus callos... ORPHA:79243
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Status epilepticus, A... OMIM:271980
Distal 7Q11.23 Microdeletion Syndrome
Chiari malformation, Seizure, Porencephalic cyst, Attention deficit hyperactivity disorder, Micro... ORPHA:254351
Spinocerebellar Ataxia 48
Dystonia, Babinski sign, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Chorea, T... OMIM:618093
Autism
Seizure, EEG abnormality, Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Seizure, EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Seizure, EEG abnormality, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Seizure, EEG abnormality, Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, EEG abnormality, Stereotypy OMIM:608636
Methylmalonyl-Coa Epimerase Deficiency
Dehydration, Gastroesophageal reflux, Methylmalonic aciduria, Ketonuria OMIM:251120
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Lower limb spasticity, S... ORPHA:464282
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... ORPHA:240103
Enteric Anendocrinosis
Malabsorption, Cholestatic liver disease, Type I diabetes mellitus, Portal hypertension, Dehydration ORPHA:83620
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Iron accumulation in globus pallidus, Seizure, Ataxia,... OMIM:619389
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral white matter hypoplasia, Hypsarrhythmia, Seizure, Stereotypical hand wringing, Spasticit... ORPHA:500545
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Cerebellar atrophy, Cerebral atrophy OMIM:609924
Hyperprolinemia, Type I
Stereotypy, Seizure, Hyperactivity, Status epilepticus, Ataxia, EEG abnormality OMIM:239500
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Paresthesia, Bilateral tonic-clonic seizure, Choreoathetosis, Paroxysmal dyskinesia, Ep... ORPHA:53583
Lissencephaly 3
Lissencephaly, Spastic tetraplegia, Seizure, Pachygyria, Ataxia, Cerebellar vermis hypoplasia, Po... OMIM:611603
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Seizure, Tremor, Status epilepticu... ORPHA:529665
Developmental And Epileptic Encephalopathy 92
Dystonia, Myoclonus, Seizure, Ataxia, Inability to walk, EEG abnormality, Spasticity, Secondary m... OMIM:617829
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Bilateral tonic-clonic seizure, Infantile spasms, Colpocephaly, Seizu... ORPHA:250972
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Glycosuria, Abnormality of the gastrointestinal tract, Postprandial hypergl... ORPHA:2089
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... OMIM:254770
Developmental And Epileptic Encephalopathy 90
Babinski sign, Limb hypertonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:301058
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... ORPHA:101046
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) s... OMIM:609446
Glut1 Deficiency Syndrome 1
Paralysis, Paroxysmal dystonia, Babinski sign, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... OMIM:606777
Lactase Deficiency, Congenital
Lactose intolerance, Dehydration, Decreased small intestinal mucosa lactase level OMIM:223000
Infantile Cerebellar-Retinal Degeneration
Athetosis, Cerebellar atrophy, Bilateral tonic-clonic seizure, Microcephaly, Ataxia, Progressive ... OMIM:614559
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Hypointensity of cerebral white matter on MRI, Seizure precipitated by febrile infection, Bilater... ORPHA:363549
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Renal hypoplasia, High palate, Oligohydramnios, Ketonuria OMIM:619053
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:613721
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Villous atrophy, Dehydration OMIM:251850
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxi... OMIM:614487
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity, EEG abnormality ORPHA:436151
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Abnormal nervous system electrophysiology, Seizure, Ataxia, Cerebral atrophy OMIM:204500
3-Methylglutaconic Aciduria Type 1
Dystonia, Hypoglycemia, Seizure, Progressive cerebellar ataxia, Spastic tetraparesis, Abnormality... ORPHA:67046
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Chorea, Paroxysmal dyskinesia, Generalized-onset seizure, EEG wit... ORPHA:79137
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spas... ORPHA:100988
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor,... OMIM:618876
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Tonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, EEG with occipital epileptiform ... OMIM:619428
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Cerebellar atrophy, Myoclonic spasms, Bilateral tonic-clonic seizure, Poor motor coor... ORPHA:79264
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Babinski sign, Cerebellar atrophy, Spastic dysarthria, Stereotypy, Seizure, Microcephal... ORPHA:280763
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypog... ORPHA:552
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Dystonia, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Abnormal periphera... ORPHA:457205
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Hyperactivity, Hypertonia, Tetraplegia, Cerebral atrophy, Agenesis of corpus callosum, M... OMIM:274270
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Babinski sign, Thalamic calcification, Rigidity, Bradykinesia, Seizure, Hypertonia, Generalized d... OMIM:618824
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:607876
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Pachygyria, Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Chorea, Waddling gait, Truncal ata... ORPHA:369840
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Multifocal seizures, Tongue thrusting, Cerebellar vermis atrophy, Corpu... ORPHA:77299
Mental Retardation, Autosomal Dominant 52
Seizure, Hyperactivity OMIM:617796
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Abnormality of extrapyramidal motor f... ORPHA:500180
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination OMIM:617182
Pitt-Hopkins-Like Syndrome 1
Stereotypy, Seizure, Hyperactivity, Ataxia, Generalized-onset seizure, EEG abnormality, Spasticit... OMIM:610042
Glycine Encephalopathy
Myoclonus, Seizure, Hyperactivity, Agenesis of corpus callosum, Lethargy OMIM:605899
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Retinal dystrophy, Dilated fourth ventric... ORPHA:370022
Intellectual Developmental Disorder, X-Linked 1
Seizure, Secondary microcephaly, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Polymicrogyria Due To Tubb2B Mutation
Seizure, Polymicrogyria, Focal-onset seizure, Oromotor apraxia, Pachygyria, Attention deficit hyp... ORPHA:300573
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Babinski sign, Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Spastic diplegia OMIM:619065
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Bilateral... OMIM:618559
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Intellectual Developmental Disorder, X-Linked 104
Seizure, Hyperactivity, Ataxia, Tremor, Spasticity, Hypoplasia of the corpus callosum, Cerebral c... OMIM:300983
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Simplified gyral pattern, Seizure, Inability to walk, Spasticity, Cereb... OMIM:618492
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia, Ketonuria OMIM:210200
Spastic Paraplegia 82, Autosomal Recessive
Babinski sign, Bilateral tonic-clonic seizure with generalized onset, Spasticity, Focal-onset sei... OMIM:618770
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Ketonuria OMIM:618857
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Gilbert Syndrome
Dehydration, Jaundice OMIM:143500
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hyperglycemia OMIM:608600
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Limb hypertonia, Opisthotonus, Tonic seizure, Bilateral tonic-clonic seizure,... OMIM:619580
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Infantile spasms, Impaired pai... ORPHA:3095
Poretti-Boltshauser Syndrome
Cerebellar cyst, Retinal atrophy, Dilated fourth ventricle, Retinal dystrophy, Cerebellar dysplas... OMIM:615960
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Poor coordination OMIM:309548
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dysphagia, Hypoglycemia, Cryptorchidism, Dehydration OMIM:618958
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Microcephaly OMIM:616311
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperglycemia, Edema, Dehydration, Ketonuria ORPHA:134
Glutaric Acidemia I
Hepatomegaly, Glutaric aciduria, Hypoglycemia, Ketonuria OMIM:231670
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Tongue th... ORPHA:98795
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Type II diabetes mellitus, Diffuse cerebellar atrophy, Abnormal head movements, Progressive gait ... ORPHA:247815
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Jerky head movements, Choreoathetosis, Ataxia, Oculomotor apraxia, Microcephaly OMIM:245348
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration, Dicarboxylic aciduria, Ketotic hypoglycemia ORPHA:79159
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Temporal cortical atrophy, Partial absence of cerebellar vermis, Caudate atrophy, Focal impaired ... ORPHA:137831
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Mental Retardation, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Stereotypy, ... OMIM:617751
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Bilateral tonic-clonic seizure, Cerebellar dysplasia, St... ORPHA:457240
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Intellectual Developmental Disorder With Seizures And Language Delay
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... OMIM:619000
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Seizure, Hyperactivity, Inability to walk, Tremor, EEG abnormality, Spasticity, Micro... OMIM:618718
Fraxe Intellectual Disability
Clumsiness, Stereotypical body rocking, Recurrent hand flapping, Hyperactivity ORPHA:100973
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Gait disturbance, Deep cerebral white matter hyperintensities, Bilateral tonic-clonic seizure, Ri... ORPHA:199354
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Edema, Jaundice, Recurrent hypoglycemia, Acute p... ORPHA:20
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... OMIM:617384
Mitochondrial Complex I Deficiency, Nuclear Type 21
Babinski sign, Generalized non-motor (absence) seizure, Leukoencephalopathy, Ataxia, Spasticity, ... OMIM:618242
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... ORPHA:71277
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Seizure, Hyperactivity, Ataxia, Tremor, Oculomotor apraxia, Spasticity... OMIM:612716
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Hydrocephalus, Generalized no... OMIM:300558
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, La... ORPHA:101110
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Bilateral tonic-clonic seiz... OMIM:619092
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:614418
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Interictal EEG abnormality, Dysmetria... ORPHA:79263
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Dehydration, Methylmalonic aciduria, Ketonuria OMIM:251110
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Kohlschutter-Tonz Syndrome
Hypsarrhythmia, Seizure, Ataxia, Cerebellar hypoplasia, Spasticity, Cerebral atrophy OMIM:226750
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Hypoplasia of the pons, Myoclonus, Focal impaired awareness seizure, Hypsarrhyt... ORPHA:411986
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Cerebellar atrophy, Tongue fasciculations, Dysmetria, Seizure, Ataxia, Tremor, Cer... OMIM:618170
Cystinosis
Renal tubular dysfunction, Dehydration, Malabsorption, Proteinuria, Type I diabetes mellitus, Nep... ORPHA:213
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Dehydration, Methylmalonic aciduria, Ketonuria OMIM:251100
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... OMIM:607682
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with centrotemporal foc... OMIM:117100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Frequent falls... ORPHA:2590
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:600669
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Seizure, Ataxia, Corpus callosum atroph... OMIM:618088
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure,... ORPHA:329308
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Gene... ORPHA:1934
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Paroxysmal dystonia, Babinski sign, Cerebellar cyst, Dysplastic corpu... ORPHA:2524
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Pachygyria, Bilateral tonic-clonic seizure ORPHA:329329
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Cerebral palsy, Interictal epileptiform activity, EEG with generalize... ORPHA:163681
Pontocerebellar Hypoplasia, Type 11
Poor coordination, Stereotypy, Seizure, Ataxia, Inability to walk, Broad-based gait, Spasticity, ... OMIM:617695
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Malabsorption, Argininuria, Hyperlysinuria OMIM:222690
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Steppage gait, Seizure, Ataxia, Distal sensory impairment, Cerebral atrophy OMIM:607250
Dravet Syndrome
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:33069
Secondary Short Bowel Syndrome
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... ORPHA:95427
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor... OMIM:617672
Pearson Marrow-Pancreas Syndrome
Renal Fanconi syndrome, Malabsorption, Diabetes mellitus, Type I diabetes mellitus, 3-Methylgluta... OMIM:557000
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Dehydration ORPHA:28
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Hypoglycemia, Dicarboxylic aciduria, Increased urine alpha-ketoglutarate c... OMIM:619355
Xq25 Microduplication Syndrome
Seizure, Hyperactivity, Hypoplasia of the corpus callosum, Cerebellar hypoplasia ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Seizure, Hyperactivity, Hypoplasia of the corpus callosum, Cerebellar hypoplasia OMIM:300979
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Hepatomegaly, Ketonuria, Lacticaciduria OMIM:619167
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Positive Romb... OMIM:607136
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Dysmetria, Myoclonus, Abnormal nervous system electrophysiology, ... OMIM:256731
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... ORPHA:1942
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Progressive microcephaly, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic aciduria, Pancreatitis, Stage 5 chronic... OMIM:251000
Greig Cephalopolysyndactyly Syndrome
Seizure, Hydrocephalus, Agenesis of corpus callosum, Hyperglycemia OMIM:175700
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Bardet-Biedl Syndrome 9
Retinal degeneration, Hyperglycemia, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:615986
Lafora Disease
Gait disturbance, Bilateral tonic-clonic seizure, Lafora bodies, Giant somatosensory evoked poten... ORPHA:501
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Hypertonic dehydration, Malabsorption, Glycosuria OMIM:606824
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Renal insufficiency, Dehydration ORPHA:79312
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Limb hypertonia, Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Fo... ORPHA:488613
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Dehydration, Dicarboxylic aciduria, Methylmalonic aciduria ORPHA:289504
Familial Renal Glucosuria
Renal tubular dysfunction, Glycosuria, Recurrent urinary tract infections, Nephropathy, Dehydration ORPHA:69076
Folinic Acid-Responsive Seizures
Dystonia, Cerebellar atrophy, Chorea, Hypsarrhythmia, EEG with generalized slow activity, Seizure... ORPHA:79097
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Progressive spasticity, Dystonia, Cerebellar atrophy, Head titubation, Seizure, Ataxia, Cerebral ... ORPHA:527497
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Jerky head movements, Typical abse... ORPHA:64280
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia, Seizure, Ataxia, Tremor OMIM:220111
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy, Seizure, Attention deficit hyperactivity disorder, Microcephaly OMIM:618906
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Caudate atrophy, Insulin resistance, Myoclonus, Seizure, Hyperactivity, ... ORPHA:363400
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Paresthesia, Dysesthesia, EEG with... ORPHA:1945
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
Mental Retardation, Autosomal Dominant 43
Seizure, Hyperactivity, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly OMIM:616977
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Paroxysmal dystonia, Increased theta frequency activity in EEG, Bilateral ... ORPHA:98784
Combined Malonic And Methylmalonic Aciduria
Dehydration, Methylmalonic aciduria OMIM:614265
Christianson Syndrome
Dystonia, Cerebellar atrophy, Stereotypy, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Apl... ORPHA:85278
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:607681
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Episodic Ataxia Type 4
Ataxia, Abnormal head movements, Incoordination, Frequent falls ORPHA:79136
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Stereotypy, Cerebral cortical atr... OMIM:600795
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Generalized aminoaciduria, Fasting hypoglycemia, Hepatocellular ... ORPHA:2088
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Pancreatitis, Dehydration ORPHA:27
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... OMIM:618218
Pyruvate Carboxylase Deficiency
Generalized clonic seizure, Dystonia, Hypoglycemia, Periventricular cysts, Infantile spasms, Cere... ORPHA:3008
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Infan... ORPHA:544503
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Involuntary movements, Dystonia, Clonus, Babinski sign, Hypoglycemia, Bilateral tonic-clonic seiz... ORPHA:480864
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:607631
Amish Lethal Microcephaly
Limb hypertonia, Bilateral tonic-clonic seizure, Cerebellar vermis hypoplasia, Spina bifida, Liss... ORPHA:99742
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Seizure, Spasticity, Recurrent hand flapping, Hypoplasia of the corpus callosum, Cerebral cortica... OMIM:618859
Fragile X Syndrome
Seizure, Hyperactivity, Abnormal head movements OMIM:300624
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Long penis, Hyperglycemia, Pancreatic islet-cell hyperpla... OMIM:246200
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Seizures, Benign Familial Infantile, 1
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:601764
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia... OMIM:606528
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Cerebral white matter hypoplasia, Myoclonic seizure, Pachygyria, Hypertonia, Bilateral tonic-clon... OMIM:619091
Bilateral Polymicrogyria
Perisylvian polymicrogyria, Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms,... ORPHA:268940
Developmental And Epileptic Encephalopathy 87
Infantile spasms, Hypsarrhythmia, Seizure, Hypertonia, Cerebral atrophy, Recurrent hand flapping OMIM:618916
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Molybdenum Cofactor Deficiency, Complementation Group C
Opisthotonus, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Seizure, Hypertonia, Polymi... OMIM:615501
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Pancreatitis, Increased level of hippuric acid in urine, Hyperglycinu... OMIM:606054
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Gait disturbance, Bilateral tonic-clonic seizure, Lower limb spasticity, Abnormal cerebral white ... ORPHA:395
Congenital Tufting Enteropathy
Villous atrophy, Malabsorption, Cholestatic liver disease, Abnormal small intestinal mucosa morph... ORPHA:92050
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Limb hypertonia, Bilateral tonic-clonic seizure, Infantile spa... ORPHA:457351
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Methylmalonic aciduria, Dehydration, Hemolytic-uremic syndrome, Jaundice, Glossitis... ORPHA:79282
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Stereotypy OMIM:615541
Dk1-Cdg
Infantile spasms, Bilateral tonic-clonic seizure, Hypsarrhythmia, EEG with generalized slow activ... ORPHA:91131
Leber Congenital Amaurosis 1
Eye poking, Fundus atrophy, Pigmentary retinopathy OMIM:204000
Pancreatic And Cerebellar Agenesis
Cerebellar agenesis, Hypoglycemia, Hyperglycemia, Seizure, Diabetes mellitus, Cerebellar hypoplas... OMIM:609069
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Seizure, Hyperactivity, Broad-based gait, Spasticity, Hypoplasia of the corpus callosum, Cortical... ORPHA:457260
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Microcephaly OMIM:608747
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Dystonia, Babinski sign, Decreased motor nerve conduction velocity, Head ... OMIM:608804
Sarcosinemia
Ataxia, Tetraparesis, Bilateral tonic-clonic seizure ORPHA:3129
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Normal interictal EEG, Focal impaired awareness ... OMIM:607745
Autism, Susceptibility To, X-Linked 2
Seizure, EEG abnormality, Stereotypy OMIM:300495
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... OMIM:615954
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Febrile seizure (within the age range of 3 months to 6 years), Stereotypy, Seiz... OMIM:614104
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Villous atrophy, Portal fibrosi... OMIM:619377
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Cirrho... OMIM:604367
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Dilation of lateral ventricles, Bilateral tonic-clonic seizure, Diabetes mellitus, Microcephaly OMIM:619278
Autosomal Spastic Paraplegia Type 58
Torticollis, Spastic ataxia, Fasciculations, Cerebral atrophy, Abnormal pyramidal sign, Titubatio... ORPHA:397946
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Poor coordination, Abnormality of pain sensation, Eating-induced seizure, Tremo... ORPHA:544254
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia, Lacticaciduria, Pancreatitis, Hepatic steatosis, Aminoacidur... OMIM:619386
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Dystonia, Leukoencephalopathy, Seizure, Focal white matter lesions, Ataxia, Spasticity... OMIM:612951
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Hypertonia, Spasticity, Cerebral atrophy, Microce... OMIM:618426
Myoclonic Epilepsy Of Lafora
Gait disturbance, Bilateral tonic-clonic seizure, Lafora bodies, Myoclonus, Bilateral tonic-cloni... OMIM:254780
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Mental Retardation, Autosomal Recessive 13
Seizure, Hyperactivity, Secondary microcephaly, Hypoplasia of the corpus callosum, Abnormal cereb... OMIM:613192
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Myopathy With Extrapyramidal Signs
Clumsiness, Dystonia, Clonus, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the inter... OMIM:615673
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, High palate, Ketonuria OMIM:614520
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Ketonuria OMIM:615751
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Proximal tubulopathy, Diabetes mellitus, Type I diabetes mellitus, Polyuria, Dehydr... OMIM:560000
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Microcephaly, Stereotypy OMIM:609425
Optic Atrophy 11
Dysmetria, Leukoencephalopathy, Hyperactivity, Ataxia, Hyperkinetic movements, Cerebellar hypopla... OMIM:617302
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Seizure, Hyperactivity, Hypertonia, Repetitive compulsive behavior, S... ORPHA:352490
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia, Hyperglycinuria, Organic aciduria, Ketonuria OMIM:210210
Birt-Hogg-Dubé Syndrome
Pneumothorax, Parathyroid adenoma, Emphysema, Pulmonary sequestration ORPHA:122
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Seizure, Hyperactivity, Ataxia, EEG abnormality, Broad-based gait, Cessation of head growth ORPHA:411515
Japanese Encephalitis
Decreased motor nerve conduction velocity, Interictal epileptiform activity, Cerebral edema, Abno... ORPHA:79139
Cdkl5-Deficiency Disorder
Gait disturbance, Infantile spasms, Impaired pain sensation, Multifocal epileptiform discharges, ... ORPHA:505652
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Gait ataxia, Seizu... OMIM:618877
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Seizure, Hyperactivity, Spasticity, Decreased response to growth hormone stimulation test, Agenes... OMIM:615286
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Aciduria OMIM:617950
Vipoma
Hepatomegaly, Abnormal gastrointestinal motility, Benign gastrointestinal tract tumors, Ascites, ... ORPHA:97282
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity, Microcephaly OMIM:300434
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Chorea, Lewy bodies, Bradykinesia, Intent... OMIM:610217
X-Linked Intellectual Disability, Cantagrel Type
Stereotypy, Seizure, Tetraparesis, Hypoplasia of the corpus callosum, Cerebral cortical atrophy ORPHA:85277
Reticular Dysgenesis
Dehydration, Malabsorption ORPHA:33355
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Stereotypy, Seizure, Frontal cortical atrophy, Hypoplasia of the c... ORPHA:228384
Wolcott-Rallison Syndrome
Hepatomegaly, Central hypothyroidism, Ascites, Dehydration, Abnormality of the liver, Hypothyroid... ORPHA:1667
Angelman Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonus, Tongue thrusting, Seizure, Microceph... ORPHA:72
Xq28 (MECP2) duplication
Progressive spasticity, Gait ataxia, Stereotypy, Seizure, Inability to walk, Hypoplasia of the co... DECIPHER:45
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, EEG with generalized epileptiform discharges, Fasting hyperinsulin... ORPHA:35878
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Tongue fasciculations, Upper limb spasticity, Bilateral tonic-clonic seizure,... OMIM:617193
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Protein-losing enteropathy, Hematochezia, Dehydration ORPHA:103910
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Rectal prolapse, Peritonitis, Anuria, Acute colitis, Intestinal perforation, Panc... ORPHA:90038
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Spastic tetraplegia, Seizure, Microcephaly, Status epilepticus, Inability to walk, Hypert... OMIM:617864
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Lower limb spasticity, Hypsarrhy... OMIM:300912
Scorpion Envenomation
Hyperglycemia, Edema, Glycosuria, Acute kidney injury, Pulmonary edema, Acute pancreatitis, Hyper... ORPHA:466677
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Stereotypy, Seizure, Cerebellar vermis hypoplasia, Spasticity, Unsteady gait, Gait atax... OMIM:617807
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Hypoglycemia, Hypothyroidism, Oral-pharyngeal dysphagia, Ketonuria OMIM:616878
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Intellectual Developmental Disorder, Autosomal Dominant 34
Secondary microcephaly, Broad-based gait, Bilateral tonic-clonic seizure, Stereotypy OMIM:616351
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Fasting hypoglycemia, Type II diabetes mellitus, Insulin resi... ORPHA:2298
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Shukla-Vernon Syndrome
Cerebellar atrophy, Stereotypy, Seizure, Broad-based gait, Attention deficit hyperactivity disorder OMIM:301029
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dysgenesis of the hippocampus, Torticollis, Spastic ataxia, Stereotypy, Seizure, Polymicrogyria, ... ORPHA:300570
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, EEG with multifocal slow activity, Myoclonus, A... ORPHA:442835
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Spinocerebellar Ataxia Type 17
Involuntary movements, Dystonia, Gait disturbance, Parkinsonism, Cerebellar atrophy, Rigidity, Wr... ORPHA:98759
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Cholestatic liver disease, Nephro... OMIM:208085
Autosomal Agammaglobulinemia
High palate, Hepatitis, Dehydration, Malabsorption ORPHA:33110
Ritscher-Schinzel Syndrome 4
Athetosis, Dandy-Walker malformation, Dysgenesis of the hippocampus, Bilateral tonic-clonic seizu... OMIM:619435
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Hypoglycemia, Splenomegaly ORPHA:664
Dentatorubral Pallidoluysian Atrophy
Involuntary movements, Impaired proprioception, Dyssynergia, Choreoathetosis, Dysmetria, Oromandi... ORPHA:101
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Tonic seizure, Infantile spasms, Hypsarrhythmia, Seizure, Hyperactivity, EEG with burst suppressi... OMIM:619239
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Intention tremor, Seizure, Clonic seizure, Status epilepticus, Bilateral tonic-clonic ... OMIM:610539
Infantile Neuroaxonal Dystrophy
Progressive spasticity, Gait disturbance, Dystonia, Cerebellar atrophy, Abnormality of peripheral... ORPHA:35069
Developmental And Epileptic Encephalopathy 95
Gait disturbance, Cerebellar atrophy, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Mul... OMIM:618143
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Dystonia, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:496641
Ring Chromosome 21 Syndrome
Gait disturbance, Holoprosencephaly, Seizure, Bilateral tonic-clonic seizure with generalized ons... ORPHA:1445
Rett Syndrome
Gait disturbance, Dystonia, Limb apraxia, Bradykinesia, Primary microcephaly, Seizure, Stereotypy... ORPHA:778
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Polyhydramnios, Annular pancreas ORPHA:1203
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Spa... OMIM:619338
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Optic nerve hypoplasia, Retinal de... OMIM:615181
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Seizure, Recurrent hand flapping, EEG abnormality, Cerebral atrophy OMIM:617268
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Inflammatory Skin And Bowel Disease, Neonatal, 2
Edema, Dehydration OMIM:616069
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Seizure, Hyperactivity, Infantile spasms OMIM:619031
Huntington Disease-Like 3
Dystonia, Caudate atrophy, Chorea, Abnormality of extrapyramidal motor function, Seizure, Frontal... OMIM:604802
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema OMIM:604571
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Athetosis, Generalized non-motor (absence) seizure, Bilateral tonic-c... ORPHA:79351
Chronic Hiccup
Dehydration ORPHA:396
Martinez-Frias Syndrome
Hypospadias, Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Intestinal malrotation, J... OMIM:601346
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity ORPHA:85288
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Myoclonus, Tongue thrusting, Seizure, Hyperactivity, Ataxia, Recurrent hand flapp... ORPHA:98794
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Sp... ORPHA:465508
Pearson Syndrome
Adrenal insufficiency, Lacticaciduria, Splenomegaly, Steatorrhea, Diabetes mellitus, Hydrops feta... ORPHA:699
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Dehydration, Pelvic kidney, Glomerulom... ORPHA:93101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Retinal dystrophy, Facial palsy, Cerebellar hypoplasia OMIM:613155
Adrenal Hypoplasia, Congenital
Decreased circulating aldosterone level, Adrenal insufficiency, Primary adrenal insufficiency, Re... OMIM:300200
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Limb hypertonia, Bilateral tonic-clonic seizure, Seizure, Ataxia, Progressive microcephaly, Inabi... ORPHA:481152
X-Linked Intellectual Disability Due To Gria3 Mutations
Babinski sign, Bilateral tonic-clonic seizure, Myoclonus, Seizure, Cerebellar vermis hypoplasia, ... ORPHA:364028
Mental Retardation, Autosomal Recessive 61
Babinski sign, Hyperactivity, EEG abnormality, Spasticity, Secondary microcephaly, Hypoplasia of ... OMIM:617773
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Ck Syndrome
Abnormal cerebral cortex morphology, Seizure, Pachygyria, Hyperactivity, Polymicrogyria, Microcep... ORPHA:251383
Microvillus Inclusion Disease
Villous atrophy, Nephrocalcinosis, Abnormal renal physiology, Abnormality of small intestinal vil... ORPHA:2290
Lamb-Shaffer Syndrome
Stereotypy, Seizure, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Microcephaly ORPHA:530983
Mental Retardation, Autosomal Recessive 41
Seizure, Stereotypy OMIM:615637
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Panacinar emphysema