Gene Summary

Name:
inositol 1,4,5-trisphosphate receptor 1
Synonyms:
P400,  Pcp1,  InsP3R type I,  Itpr-1,  wblo,  Pcp-1,  IP3R1,  Ip3r,  opt

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Itpr1tm1.1(NCOM)Mfgc HOM   Early adult 0.00
abnormal embryo size Itpr1tm1.1(NCOM)Mfgc HOM E9.5 0.00
small epididymis Itpr1tm1.1(NCOM)Mfgc HET Early adult 0.00
embryonic growth retardation Itpr1tm1.1(NCOM)Mfgc HOM E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 50% (2 of 4)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 4)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (4 of 4)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 50% (2 of 4)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 4)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 4)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 4)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 4)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 4)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 50% (2 of 4)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 4)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 4)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 4)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 4)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 4)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 4)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 4)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skin N/A heterozygote 50% (2 of 4)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 50% (2 of 4)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 4)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Gross Morphology Embryo E9.5

Images

2 Images

Human diseases caused by Itpr1 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 Itpr1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Itpr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:615006
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Falls, Abnormality of extrap... ORPHA:13
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal... OMIM:613721
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Bilateral tonic-cloni... OMIM:619913
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Myoclonic ... OMIM:162350
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Inability to walk, Apraxia, Spasticity, Spastic tetraparesis, Axial hypotonia, Dystonia, Opisthot... OMIM:619653
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Hypertonia, Focal-onset seiz... ORPHA:306
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Head titubation, Ataxia, Opisth... OMIM:205100
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Spasticity, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Seizure, Craniofacial d... OMIM:607483
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Tremor... OMIM:614018
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Bilateral tonic-clonic seizure, Tonic sei... OMIM:616346
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, Fo... OMIM:615400
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei... OMIM:618587
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Truncal ataxia, Episodic ataxia... OMIM:607682
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls, Axial hypotonia, ... OMIM:616921
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Spasticity, Seizure, Bilateral tonic-clonic seizure, ... OMIM:617350
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Gait disturbance, Action myoclonus, Bilateral tonic-clonic se... OMIM:616230
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness... OMIM:619970
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:619191
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral tonic-clonic seizure... OMIM:204300
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Snijders Blok-Fisher Syndrome
Facial hypotonia, Spasticity, Seizure, Opisthotonus, Generalized hypotonia, Choreoathetosis OMIM:618604
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Incoordination, Seizure, Bilateral tonic-clonic seizure... OMIM:616409
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Inability to walk, Lower limb spasticity OMIM:619639
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Hyperkinetic movements, Focal motor seizure, Seizur... ORPHA:725
Episodic Ataxia, Type 5
Typical absence seizure, Truncal ataxia, Episodic ataxia, Bilateral tonic-clonic seizure, Atypica... OMIM:613855
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Spast... OMIM:617389
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon... OMIM:618924
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:616645
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Frequent falls, Action myoclonus, Gait ataxia, Bilateral tonic-clo... OMIM:616540
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic status epilepticus, Truncal ataxia, Bilateral tonic-clon... OMIM:611726
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Juvenile Amyotrophic Lateral Sclerosis
Tip-toe gait, Hypertonia, Oromandibular dystonia, Difficulty walking, Inability to walk, Lower li... ORPHA:300605
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Babinski sign, Lower limb spasticity, Spasticity, Bilateral tonic-clonic seizure, Ga... OMIM:614322
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Spasticity, Tremor, Focal moto... ORPHA:599373
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Bilateral tonic-clonic seizure OMIM:104290
Developmental And Epileptic Encephalopathy 59
Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Ataxia, Focal... OMIM:617904
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Seizure, Tremor... OMIM:615362
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Focal-onset seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At... OMIM:617113
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset... ORPHA:36387
Chromosome 15Q11-Q13 Duplication Syndrome
Truncal ataxia, Seizure, Unsteady gait, Bilateral tonic-clonic seizure OMIM:608636
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Chorea, Seizure, Spasticity, Infantile spasms, Bilateral tonic-clonic seizure, M... OMIM:616139
Microphthalmia/Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Facial Spasm
Anisocoria OMIM:134300
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Generalized myoclonic seizure, Ataxia, Myoclonus OMIM:208700
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Pontocerebellar Hypoplasia, Type 2B
Babinski sign, Limb hypertonia, Chorea, Spasticity, Seizure, Tonic seizure, Clonus, Axial hypoton... OMIM:612389
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:617106
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Cogwheel rigidity, Gait disturbance, Focal hemiclonic... OMIM:616981
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Seizure, Gait disturbance, Bilateral ton... OMIM:300423
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Chorea, Seizure, Ath... ORPHA:382
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Tremor, Bilateral tonic-clonic seizure OMIM:601068
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Bilateral tonic-clonic seizure, Spastic paraplegia, Abnor... ORPHA:53583
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Inability to walk, Spasticity, Seizure, Frequent falls, Gait disturbance, Opisthoto... ORPHA:216866
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Tremor, Gait disturbance, Gait ataxia, Bilatera... OMIM:618090
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus, Focal hemifacial clonic seizure, ... OMIM:608105
Centralopathic Epilepsy
Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset OMIM:117100
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Seizure, Frequent falls, Bilateral tonic-clonic se... OMIM:301020
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure, Involuntary movements OMIM:617171
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Inability to walk, Seizure, Spasticity, Bilateral tonic-clonic seizure, Unsteady gait, Ataxia OMIM:620317
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Steppage gait, Focal myoclon... ORPHA:98818
Developmental Delay With Or Without Epilepsy
Spastic gait, Generalized non-motor (absence) seizure, Focal-onset seizure, Spasticity, Seizure, ... OMIM:620540
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Gait disturbance, Bilateral tonic-clonic seizure, Spastic p... ORPHA:100988
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Athetosis, Gait disturban... OMIM:618141
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, Bilat... ORPHA:101071
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera... ORPHA:101046
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Inability to walk, Limb hypertonia, Bilateral tonic-clonic seizure, Gait ataxia,... OMIM:619580
Developmental And Epileptic Encephalopathy 84
Babinski sign, Epileptic spasm, Chorea, Spasticity, Seizure, Axial hypotonia, Dystonia, Opisthoto... OMIM:618792
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Hyperkinetic movements, Focal-onset sei... OMIM:619317
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal o... OMIM:612691
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Spasticity, Bilateral tonic-clonic seizure, Gait ataxia, Tonic seizure, ... OMIM:620145
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Inability to walk, Apraxia, Spasticity, Tremor, Bilatera... OMIM:617810
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Chorea, Generalized-onset seizure... ORPHA:79137
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic se... ORPHA:140927
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare... ORPHA:726
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Babinski sign, Hypertonia, Spasticity, Seizure, Cerebral palsy, Limb dystonia, Clonus, Febrile se... OMIM:619847
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Falls, Bilateral tonic-clonic seizure, Atypic... ORPHA:2382
Adenylosuccinase Deficiency
Inability to walk, Spasticity, Seizure, Gait ataxia, Opisthotonus, Generalized hypotonia, Myoclon... OMIM:103050
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Infantile spasms, Spasticity, Bilateral tonic-clonic seizure, Ataxia, Status e... OMIM:619701
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-c... OMIM:617836
Glutaric Acidemia I
Seizure, Rigidity, Dystonia, Opisthotonus, Hypotonia, Generalized hypotonia, Choreoathetosis, Spa... OMIM:231670
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Difficulty walking, Focal-onset seizure, Inability to walk, Seizur... ORPHA:330050
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se... ORPHA:98820
Lissencephaly 10
Generalized non-motor (absence) seizure, Torticollis, Generalized-onset seizure, Bilateral tonic-... OMIM:618873
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic... OMIM:614558
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Bilateral tonic-clonic seizure, Dystonia, Opisthotonus, Hypotonia, Myoclonus, Status epil... OMIM:616672
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Seizure, Bilatera... OMIM:619157
Dystonia 22, Juvenile-Onset
Torticollis, Lower limb spasticity, Dysdiadochokinesis, Bilateral tonic-clonic seizure, Intention... OMIM:620453
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Oculomotor apraxia, Tongue fasciculations, Spasticity, Seizure, Spastic paraplegia, A... OMIM:614969
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Progressive cerebellar ataxia, Photosensitive myoclonic seizure, Bilater... ORPHA:263516
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Seizure, Infantile spasms, Myoclonus, Involuntary movements, Clonus, Myo... OMIM:620352
Oxoglutarate Dehydrogenase Deficiency
Falls, Bilateral tonic-clonic seizure, Gait ataxia, Rigidity, Unsteady gait, Dysmetria OMIM:203740
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Spasticity, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Pseudobulb... ORPHA:208441
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Speech apraxia, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Generalized tonic seizure OMIM:611603
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Pontocerebellar Hypoplasia, Type 2E
Neonatal hypotonia, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spasticity... OMIM:615851
Developmental And Epileptic Encephalopathy 101
Seizure, Axial hypotonia, Opisthotonus, Hypotonia, Myoclonus OMIM:619814
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Alg11-Cdg
Hypertonia, Limb hypertonia, Seizure, Infantile muscular hypotonia, Axial hypotonia, Ataxia, Opis... ORPHA:280071
3-Methylglutaconic Aciduria Type 7
Hypertonia, Abnormality of extrapyramidal motor function, Spasticity, Seizure, Progressive extrap... ORPHA:445038
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Bilateral tonic-clonic seizure, Gait ataxia, Ataxia, Parkinsonism,... OMIM:618093
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
D-Glyceric Aciduria
Neonatal hypotonia, Focal clonic seizure, Appendicular spasticity, Spasticity, Seizure, Bilateral... OMIM:220120
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Focal motor seizure, Seizure, Bilateral... OMIM:619911
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Spasticity, Focal motor seizure, Seizure, Bilateral tonic-clonic seizure, Tonic ... OMIM:617711
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Seizure, Generalized-onset sei... OMIM:617976
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:607745
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure wi... OMIM:609446
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Spastic diplegia OMIM:619065
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Hyperkinetic movements, Inability to walk, Seizure, Bilateral tonic-clonic seizu... OMIM:618497
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Bilateral toni... OMIM:614487
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia OMIM:617862
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Seizure, Spasticity, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia OMIM:226750
Lissencephaly Due To Lis1 Mutation
Neonatal hypotonia, Generalized myoclonic seizure, Tetraplegia, Focal motor seizure, Seizure, Inf... ORPHA:95232
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypotonia, Hyperkinetic movements, Spasticity, Tremor, Seizure, Dystonia, Ataxia, Opisth... OMIM:616271
Pontocerebellar Hypoplasia, Type 2A
Chorea, Seizure, Dystonia, Opisthotonus, Extrapyramidal dyskinesia OMIM:277470
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:616341
Intellectual Developmental Disorder, Autosomal Dominant 5
Myoclonic absence seizure, Seizure, Torticollis, Bilateral tonic-clonic seizure OMIM:612621
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Inability to walk, Chorea, Spasticity, Bilateral tonic-clonic seizure, Gait ... OMIM:618917
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure... OMIM:616366
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Foca... OMIM:617935
Congenital Disorder Of Glycosylation, Type Ip
Neonatal hypotonia, Seizure, Opisthotonus, Hypotonia OMIM:613661
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Frequent falls, Gait... ORPHA:93952
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:619301
Neurodevelopmental Disorder With Spasticity And Poor Growth
Babinski sign, Oculomotor apraxia, Limb hypertonia, Spasticity, Seizure, Infantile spasms, Intent... OMIM:618076
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Inability to walk, Bilateral tonic-clonic seizure, Broad-based gait OMIM:618470
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Chiari Malformation Type Ii
Hypotonia, Ataxia, Opisthotonus, Generalized hypotonia OMIM:207950
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Difficulty walking, Myoclonic status epilepticus... ORPHA:2590
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Lesch-Nyhan Syndrome
Abnormality of extrapyramidal motor function, Spasticity, Seizure, Dystonia, Opisthotonus, Hypoto... OMIM:300322
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Appendicular spasticity OMIM:617082
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:619302
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Opisthotonus, Hypotonia, Abnormal pyramidal sign OMIM:271900
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Spastic hemiparesis, Spasticity, Se... OMIM:619616
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Hypertonia, Inability to walk, Focal emotional seizure with laughing, Bilateral ... ORPHA:293181
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Inability to walk, Infantile spasms, Spastic tetraparesis, Gait disturbance,... OMIM:618012
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Babinski sign, Spasticity, Focal-onset sei... OMIM:618770
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, S... OMIM:271980
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Choreoathetosis, Bilateral tonic-clonic seizure, Myoclonus OMIM:609056
Infantile Krabbe Disease
Generalized myoclonic seizure, Lower limb spasticity, Ankle clonus, Decerebrate rigidity, Spastic... ORPHA:206436
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Focal-onset seizure, Inability to walk, Gait disturbance, Bilateral tonic-clonic sei... OMIM:617166
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typi... ORPHA:208447
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Inability to walk, Focal emotional seizure with laughing, Bilatera... OMIM:619881
Mitochondrial Complex I Deficiency, Nuclear Type 37
Hypertonia, Seizure, Tetraplegia, Opisthotonus, Hypotonia, Status epilepticus OMIM:619272
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Spastic dysarthria, Oculomotor apraxia, Spasticity, Dysdiadochokin... ORPHA:313772
Stiff-Person Syndrome
Frequent falls, Exaggerated startle response, Myoclonic spasms, Rigidity, Opisthotonus OMIM:184850
Hyperlysinemia
Tip-toe gait, Simple febrile seizure, Neck hypertonia, Seizure, Tremor, Spastic tetraparesis, Poo... ORPHA:2203
Multiple Mitochondrial Dysfunctions Syndrome 1
Focal-onset seizure, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Axial hy... OMIM:605711
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Loss of am... OMIM:204200
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impaired awareness se... OMIM:601764
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Seizure, Spasticity, Bilateral tonic-clonic seizure, Status epilepticus, Focal impaired a... OMIM:613970
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic gait, Bilateral tonic-clonic seizure, Gait ataxia, Spastic paraplegia, Dysmetria OMIM:615031
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Seizure, Bilateral tonic-clonic seizu... ORPHA:529665
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Lower limb spasticity, Ch... ORPHA:485350
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Spasticity, Athetosis, Infantile spasms, Bilateral tonic-clonic s... OMIM:617493
Brain Small Vessel Disease 2
Spastic tetraplegia, Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Bi... OMIM:619725
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Developmental And Epileptic Encephalopathy 41
Babinski sign, Epileptic spasm, Myoclonic status epilepticus, Inability to walk, Spasticity, Foca... OMIM:617105
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, Myoclonus, Focal... OMIM:615859
Japanese Encephalitis
Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ... ORPHA:79139
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Babinski sign, Tongue fasciculations, Seizure, Bilateral... OMIM:618170
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Tremor, Bilateral toni... OMIM:612164
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Axial hypotonia, Hypertonia, Opisthotonus OMIM:616896
Developmental And Epileptic Encephalopathy 106
Limb hypertonia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic se... OMIM:620028
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic s... OMIM:617290
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Neonatal death, Bilateral tonic-clonic seizure OMIM:618237
Tetanus
Hypertonia, Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscles ORPHA:3299
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Difficulty walking, Focal myoclonic seizure, Lower limb spasticity... ORPHA:464282
Severe Canavan Disease
Babinski sign, Inability to walk, Decerebrate rigidity, Seizure, Spasticity, Bilateral tonic-clon... ORPHA:314911
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Spasticity, Seizure, Tonic seizure, Myoclo... OMIM:618559
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Chorea, Focal-onset seizure, Inability to walk OMIM:618760
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Opisthotonus OMIM:250800
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Spasticity, Bilateral tonic-clonic seizure, Involuntary movements ORPHA:209370
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Athetosis, Ataxia, Bilateral tonic-clonic seizure OMIM:614559
Combined Oxidative Phosphorylation Deficiency 4
Neonatal hypotonia, Spasticity, Opisthotonus OMIM:610678
Foxg1 Syndrome
Difficulty walking, Hyperkinetic movements, Inability to walk, Focal-onset seizure, Spasticity, I... ORPHA:561854
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Seizure, Focal tonic seizure, B... OMIM:618067
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Seizure, Generalized-onset seizure, Spastic tetraparesis, Bilateral tonic-clonic seiz... OMIM:604317
Developmental And Epileptic Encephalopathy 90
Babinski sign, Focal-onset seizure, Limb hypertonia, Bilateral tonic-clonic seizure, Ankle clonus... OMIM:301058
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Seizure, Opisthotonus, Hypotonia, Generalized hypotonia OMIM:210200
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Hypertonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Febrile seizure... ORPHA:289266
Rolandic Epilepsy
Focal-onset seizure, Dysesthesia, Bilateral tonic-clonic seizure with focal onset, Atypical absen... ORPHA:1945
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Unilateral Focal Polymicrogyria
Simple febrile seizure, Spastic hemiparesis, Poor fine motor coordination, Focal motor seizure, S... ORPHA:268947
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Sarcosinemia
Tetraparesis, Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Developmental And Epileptic Encephalopathy 61
Seizure, Spasticity, Bilateral tonic-clonic seizure with focal onset, Loss of ambulation, Focal c... OMIM:617933
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Ataxia, Myo... OMIM:619028
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:618856
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Gait imbalance, Bilateral tonic-clonic seizure, Gait ataxia ORPHA:488635
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Peho-Like Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:617507
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Hypertonia, Seizure, Spasticity, Bilateral tonic-clonic ... OMIM:616281
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Spasticity,... OMIM:616211
Rasmussen Subacute Encephalitis
Repeated focal motor seizures, Epilepsia partialis continua, Epileptic spasm, Focal-onset seizure... ORPHA:1929
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Developmental And Epileptic Encephalopathy 8
Hypertonia, Tonic seizure, Bilateral tonic-clonic seizure, Exaggerated startle response, Focal im... OMIM:300607
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Chorea, Truncal ataxia, Waddling gait, Bilateral tonic-clonic seizure ORPHA:369840
Nmda Receptor Encephalitis
Focal-onset seizure, Oculogyric crisis, Chorea, Seizure, Generalized-onset seizure, Involuntary m... ORPHA:217253
Migraine, Familial Hemiplegic, 2
Apraxia, Focal motor seizure, Tremor, Episodic ataxia, Bilateral tonic-clonic seizure, Gait ataxi... OMIM:602481
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Myoclonus OMIM:607876
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Hypertonia, Seizure, Bilateral tonic-clonic seizure, Foc... OMIM:619854
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Gait disturbance, Bilateral tonic-clonic seizure, Hemiparesis, Rigidity, Spastic atax... ORPHA:199354
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Crisponi/Cold-Induced Sweating Syndrome 1
Seizure, Opisthotonus OMIM:272430
Molybdenum Cofactor Deficiency, Complementation Group B
Hypertonia, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Opisthotonus, Hypotonia, S... OMIM:252160
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Intention tremor, Myoclonus, Status epi... OMIM:610539
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Generalized tonic seizure, Opisthotonus OMIM:619685
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Bilateral tonic-clonic se... ORPHA:254881
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:619428
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Auriculocondylar Syndrome 2B
Opisthotonus, Hypotonia OMIM:620458
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Late Infantile Neuronal Ceroid Lipofuscinosis
Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Inability to walk, C... ORPHA:168491
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Neovascular Glaucoma
Abnormal anterior chamber morphology, Corneal stromal edema, Rubeosis iridis, Conjunctival hypere... ORPHA:94058
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seizure, Cerebral palsy, Opisthotonus, Hypotonia, Generalized hypotonia OMIM:210210
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypertonia, Focal myoclonic seizure, Inability to walk, Seizure, Generalized-onset seizure, Axial... ORPHA:508533
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Inab... ORPHA:501
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypertonia, Opisthotonus ORPHA:3304
Molybdenum Cofactor Deficiency, Complementation Group A
Seizure, Spastic tetraparesis, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Abnormal musc... OMIM:252150
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos OMIM:251750
Sulfite Oxidase Deficiency, Isolated
Hypertonia, Bilateral tonic-clonic seizure, Ataxia, Hemiplegia, Choreoathetosis OMIM:272300
Gaucher Disease, Perinatal Lethal
Seizure, Akinesia, Opisthotonus OMIM:608013
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Involuntary movements, Myoclonic seizure OMIM:615716
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tre... OMIM:117360
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Slowed slurred ... OMIM:619827
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Chorea, Cerebral palsy, Bilateral tonic-clonic seizure, ... OMIM:617600
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Hypertonia, Inability to walk, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619877
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Hypertonia, Limb hypertonia, Generalized-onset seizure, Bilateral ... OMIM:615501
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Congenital Fibrinogen Deficiency
Opisthotonus ORPHA:335
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Apraxia, Gait disturbance... OMIM:254780
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:620292
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Hypertonia, Bilateral tonic-clonic seizure OMIM:620688
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:231736
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615637
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:300558
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Seizure, Poor motor coordination, Bilateral tonic-clonic seizure, M... ORPHA:79264
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Hyperekplexia 3
Hypertonia, Bilateral tonic-clonic seizure, Exaggerated startle response, Myoclonus OMIM:614618
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Babinski sign, Hypertonia, Generalized myoclonic seizure, Hypoglycemic seizures, Abnormality of e... ORPHA:480864
Behavioral Variant Of Frontotemporal Dementia
Fasciculations, Abnormality of extrapyramidal motor function, Upper motor neuron dysfunction, Bil... ORPHA:275864
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraparesis, Focal-onset seizure, Falls, Upper motor neuron dysfunction, Bila... ORPHA:329308
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Seizure, Tremor, Gait disturbance, Bilateral tonic-clonic seizure, Upper ... ORPHA:457240
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Seizure,... ORPHA:98795
Lissencephaly 9 With Complex Brainstem Malformation
Seizure, Spasticity, Infantile spasms, Bilateral tonic-clonic seizure, Involuntary movements, Myo... OMIM:618325
Sandhoff Disease, Infantile Form
Seizure, Spasticity, Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seiz... ORPHA:309155
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Bilateral tonic-clonic seizure ORPHA:457205
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Cataract ORPHA:1617
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 mo... ORPHA:42
Keppen-Lubinsky Syndrome
Hypertonia, Seizure, Spastic tetraparesis, Febrile seizure (within the age range of 3 months to 6... OMIM:614098
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Coats Disease
Leukocoria OMIM:300216
Pitt-Hopkins-Like Syndrome 1
Spasticity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with f... OMIM:610042
Alfadhel Syndrome
Spastic paraplegia, Seizure, Bilateral tonic-clonic seizure OMIM:620655
Epilepsy, Progressive Myoclonic, 10
Generalized myoclonic seizure, Progressive cerebellar ataxia, Spasticity, Seizure, Ataxia, Spasti... OMIM:616640
Glycosylphosphatidylinositol Biosynthesis Defect 17
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:618010
D-2-Hydroxyglutaric Aciduria 1
Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:600721
Mody
Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hemiparesis, Bilateral tonic-clonic seizure OMIM:540000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Bilateral tonic-clonic seizure OMIM:618120
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Coenzyme Q10 Deficiency, Primary, 3
Focal motor status epilepticus, Bilateral tonic-clonic seizure with focal onset OMIM:614652
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Bilateral Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Spastic hemiparesis, Cerebellar ataxia associ... ORPHA:268940
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Spasticity, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awar... OMIM:619983
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Lowe... ORPHA:395
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Febrile seizu... ORPHA:64280
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Ataxia