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Gene: Itpr1 MGI:96623

Gene Summary

Name:

inositol 1,4,5-trisphosphate receptor 1

Synonyms:

P400, Pcp1, InsP3R type I, Itpr-1, wblo, Pcp-1, IP3R1, Ip3r, opt

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
small epididymis	Itpr1^{tm1.1(NCOM)Mfgc}	HET	Early adult
embryonic growth retardation	Itpr1^{tm1.1(NCOM)Mfgc}	HOM	E9.5
preweaning lethality, incomplete penetrance	Itpr1^{tm1.1(NCOM)Mfgc}	HOM	Early adult
preweaning lethality, complete penetrance	Itpr1^{tm1.1(NCOM)Mfgc}	HOM	Early adult
abnormal embryo size	Itpr1^{tm1.1(NCOM)Mfgc}	HOM	E9.5

Download data as: TSV XLS

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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 Skull Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

20 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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OPT E9.5

Embryo reconstruction

8 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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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.

Human diseases associated with Itpr1 (6 diseases)
Human diseases predicted to be associated with Itpr1 (607 diseases)

The table below shows human diseases associated to Itpr1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Dysmetria, Impaired tandem gait, Gait ataxia, Limb ataxia, ...	OMIM:117360
Spinocerebellar Ataxia Type 29	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Intention tremor	ORPHA:208513
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Gillespie Syndrome	Hypoplasia of the iris, Aniridia	OMIM:206700

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

Disease	Matching phenotypes	Source
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	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	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus	ORPHA:22
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Prostatic Hyperplasia, Benign	Benign prostatic hyperplasia	OMIM:600082
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t...	OMIM:605021
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:615006
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Opisthotonus, Choreoathetosis, Se...	ORPHA:13
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure	OMIM:617080
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple...	OMIM:613721
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ...	OMIM:162350
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,...	OMIM:619913
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Epilepsy, Progressive Myoclonic 7	Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Dravet Syndrome	Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Generalized dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opi...	OMIM:619653
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Axial hypotonia, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal...	OMIM:607483
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Ataxia, Arm d...	OMIM:205100
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity	OMIM:613722
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Spinocerebellar Ataxia, Autosomal Recessive 12	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Limb ataxia, Gait a...	OMIM:614322
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire...	OMIM:615400
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu...	OMIM:614018
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen...	OMIM:616346
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Dyskinesia, Limb And Orofacial, Infantile-Onset	Axial hypotonia, Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, F...	OMIM:616921
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (...	OMIM:607682
Snijders Blok-Fisher Syndrome	Facial hypotonia, Opisthotonus, Choreoathetosis, Seizure, Generalized hypotonia, Spasticity	OMIM:618604
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure, Ataxia	OMIM:617709
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Epilepsy, Progressive Myoclonic, 8	Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls,...	OMIM:616230
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Epilepsy, Progressive Myoclonic, 12	Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking	OMIM:619191
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:603204
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im...	OMIM:619970
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li...	OMIM:617350
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ...	OMIM:204300
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure, Intention tremor	OMIM:617863
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements	OMIM:618425
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead...	OMIM:616409
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure	OMIM:619639
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Continuous Spikes And Waves During Sleep	Speech apraxia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Ty...	ORPHA:725
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se...	OMIM:617389
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Developmental And Epileptic Encephalopathy 59	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Focal...	OMIM:617904
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo...	OMIM:618924
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Axial hypotonia, Tremor, Inability to walk, Babinsk...	OMIM:617013
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I...	OMIM:616645
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure...	OMIM:611726
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Developmental And Epileptic Encephalopathy 43	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei...	OMIM:617113
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Clonus, Parkinsonism, Head titubation, I...	ORPHA:300605
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis	OMIM:104290
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo...	ORPHA:599373
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ...	OMIM:615362
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking	OMIM:613608
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ...	OMIM:245570
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity, Dysmetria, Ga...	OMIM:618090
Chromosome 15Q11-Q13 Duplication Syndrome	Seizure, Unsteady gait, Bilateral tonic-clonic seizure, Truncal ataxia	OMIM:608636
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei...	OMIM:616139
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Facial Spasm	Anisocoria	OMIM:134300
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-...	ORPHA:36387
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus	OMIM:208700
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Pontocerebellar Hypoplasia, Type 2B	Axial hypotonia, Clonus, Tonic seizure, Chorea, Babinski sign, Hypotonia, Opisthotonus, Myoclonic...	OMIM:612389
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ...	OMIM:616981
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t...	OMIM:300423
Guanidinoacetate Methyltransferase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz...	ORPHA:382
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor	OMIM:601068
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par...	ORPHA:53583
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Isolated Focal Cortical Dysplasia	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa...	ORPHA:65683
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Hand tremor...	OMIM:608105
Centralopathic Epilepsy	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures	OMIM:117100
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Mitochondrial Complex I Deficiency, Nuclear Type 12	Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ...	OMIM:301020
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus	OMIM:617171
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ...	ORPHA:2382
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Opisthotonus, Seizure, Tip-toe gait, Gait disturbance, S...	ORPHA:216866
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:610003
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro...	OMIM:612736
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Gen...	ORPHA:86909
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Unsteady gait, Seizure, Spasticity	OMIM:620317
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:266100
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus	OMIM:254800
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Bilateral tonic-clonic seizure, Postural tre...	ORPHA:100988
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Landau-Kleffner Syndrome	Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic sei...	ORPHA:98818
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi...	ORPHA:101071
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Clonic s...	OMIM:619580
Polymicrogyria, Bilateral Perisylvian, X-Linked	Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Developmental And Epileptic Encephalopathy 84	Epileptic spasm, Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Seizure, Generalized hypot...	OMIM:618792
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Adenylosuccinase Deficiency	Inability to walk, Hypotonia, Opisthotonus, Gait ataxia, Seizure, Myoclonus, Generalized hypotoni...	OMIM:103050
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence...	ORPHA:79137
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Alpers-Huttenlocher Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo...	ORPHA:726
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur...	OMIM:617810
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata...	ORPHA:140927
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Hypotonia, Opisthotonus, Spasticity, ...	OMIM:619847
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Generalized myoclonic sei...	OMIM:617836
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia	OMIM:125370
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Yoon-Bellen Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I...	OMIM:619701
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Inability to walk, Seizure, Focal im...	ORPHA:330050
Glutaric Acidemia I	Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Seizure, Generalized hypoto...	OMIM:231670
Cerebellar Atrophy, Developmental Delay, And Seizures	Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:617643
Lissencephaly 10	Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se...	OMIM:618873
Familial Focal Epilepsy With Variable Foci	Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo...	ORPHA:98820
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Combined Oxidative Phosphorylation Deficiency 27	Bilateral tonic-clonic seizure, Severe muscular hypotonia, Chorea, Hypotonia, Opisthotonus, Statu...	OMIM:616672
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619157
Pontocerebellar Hypoplasia, Type 7	Ataxia, Spastic paraplegia, Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Myoclo...	OMIM:614969
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy...	ORPHA:98810
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls	OMIM:203740
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl...	OMIM:620352
Lissencephaly 3	Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Seizure, Generalized tonic seizure	OMIM:611603
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m...	ORPHA:263516
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Seizure, Pseudobulbar paralysis, Focal impaired awareness seizure...	ORPHA:208441
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Speech apraxia, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:163721
Developmental And Epileptic Encephalopathy 98	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ...	OMIM:619605
Pontocerebellar Hypoplasia, Type 2E	Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t...	OMIM:615851
Developmental And Epileptic Encephalopathy 101	Axial hypotonia, Hypotonia, Opisthotonus, Seizure, Myoclonus	OMIM:619814
Spinocerebellar Ataxia 48	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G...	OMIM:618093
Alg11-Cdg	Axial hypotonia, Ataxia, Opisthotonus, Seizure, Hypertonia, Infantile muscular hypotonia, Limb hy...	ORPHA:280071
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Akinesia, Rigidity...	OMIM:619911
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
3-Methylglutaconic Aciduria Type 7	Abnormal pyramidal sign, Hypotonia, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertoni...	ORPHA:445038
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl...	OMIM:619301
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur...	OMIM:617711
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus	OMIM:619065
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:618497
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
D-Glyceric Aciduria	Axial hypotonia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Hypotonia, Opisthotonus, Se...	OMIM:220120
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Dysdiadoch...	OMIM:614487
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Kohlschutter-Tonz Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Spasticity	OMIM:226750
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s...	OMIM:609446
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi...	OMIM:617976
Lissencephaly Due To Lis1 Mutation	Neonatal hypotonia, Axial hypotonia, Infantile spasms, Focal motor seizure, Tetraplegia, Opisthot...	ORPHA:95232
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia	OMIM:617862
Pontocerebellar Hypoplasia, Type 2A	Chorea, Opisthotonus, Seizure, Extrapyramidal dyskinesia, Dystonia	OMIM:277470
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclo...	OMIM:616271
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:616341
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Intellectual Developmental Disorder, Autosomal Dominant 5	Seizure, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure	OMIM:612621
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Chorea, Inabi...	OMIM:618917
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai...	ORPHA:93952
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Hypotonia, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age...	OMIM:616366
Congenital Disorder Of Glycosylation, Type Ip	Neonatal hypotonia, Seizure, Hypotonia, Opisthotonus	OMIM:613661
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:309530
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618470
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363549
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl...	OMIM:619302
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Neurodevelopmental Disorder With Spasticity And Poor Growth	Generalized dystonia, Ataxia, Clonus, Infantile spasms, Axial hypotonia, Babinski sign, Myoclonic...	OMIM:618076
Chiari Malformation Type Ii	Ataxia, Hypotonia, Generalized hypotonia, Opisthotonus	OMIM:207950
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb...	ORPHA:352582
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Hypotonia, Opisthotonus	OMIM:271900
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Lesch-Nyhan Syndrome	Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Abnormality of extrapyramidal motor function, ...	OMIM:300322
Congenital Disorder Of Glycosylation, Type Iaa	Appendicular spasticity, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:617082
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener...	OMIM:619616
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertonia, Axial hypotonia, Opisthotonus	OMIM:616896
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetraparesis, Clonic sei...	OMIM:618012
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:609056
Spastic Paraplegia 82, Autosomal Recessive	Focal-onset seizure, Spasticity, Babinski sign, Bilateral tonic-clonic seizure with generalized o...	OMIM:618770
Infantile Krabbe Disease	Lower limb spasticity, Infantile axial hypotonia, Spastic diplegia, Opisthotonus, Ankle clonus, S...	ORPHA:206436
Succinic Semialdehyde Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Seizure, Hyperki...	OMIM:271980
Parkinsonism-Dystonia 1, Infantile-Onset	Limb dystonia, Axial hypotonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnorm...	OMIM:613135
Developmental And Epileptic Encephalopathy 47	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Inability to walk, Li...	OMIM:617166
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:208447
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi...	OMIM:204200
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spastic dysarthria, Dysdia...	ORPHA:313772
Cataracts, Spastic Paraparesis, And Speech Delay	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com...	OMIM:619338
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypotonia, Tetraplegia, Opisthotonus, Seizure, Hypertonia, Status epilepticus	OMIM:619272
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetraparesis, Tremor, S...	ORPHA:2203
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu...	ORPHA:2590
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls	OMIM:184850
Multiple Mitochondrial Dysfunctions Syndrome 1	Axial hypotonia, Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyr...	OMIM:605711
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept...	OMIM:613970
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait	OMIM:615031
Seizures, Benign Familial Infantile, 1	Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic...	OMIM:601764
Mahvash Disease	Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g...	OMIM:619290
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst	OMIM:620086
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Epileptic spasm, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypoton...	OMIM:614254
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper...	OMIM:617493
Brain Small Vessel Disease 2	Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraplegia	OMIM:614483
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem...	ORPHA:454887
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Intellectual Developmental Disorder With Seizures And Language Delay	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:619000
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, ...	OMIM:619725
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se...	OMIM:617105
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, G...	ORPHA:485350
Severe Canavan Disease	Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Seizure, Decerebrate rigidity, ...	ORPHA:314911
Systemic Primary Carnitine Deficiency	Bilateral tonic-clonic seizure with focal onset, Clumsiness	ORPHA:158
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor...	OMIM:618170
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff...	ORPHA:529665
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure...	OMIM:615859
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Japanese Encephalitis	Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor...	ORPHA:79139
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Seiz...	ORPHA:464282
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo...	OMIM:617290
Tetanus	Tremor, Rigidity, Opisthotonus, Hypertonia, Spasticity of pharyngeal muscles	ORPHA:3299
Developmental And Epileptic Encephalopathy 106	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper...	OMIM:620028
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, Bilateral tonic-clonic seizure, Spastic tetraplegia	OMIM:618237
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Developmental And Epileptic Encephalopathy 79	Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My...	OMIM:618559
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Focal-onset seizure, Chorea, Convulsive status epilepticus	OMIM:618760
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Infantile Cerebellar-Retinal Degeneration	Focal-onset seizure, Athetosis, Bilateral tonic-clonic seizure, Ataxia	OMIM:614559
Severe Neonatal-Onset Encephalopathy With Microcephaly	Seizure, Spasticity, Bilateral tonic-clonic seizure, Involuntary movements	ORPHA:209370
Combined Oxidative Phosphorylation Deficiency 4	Neonatal hypotonia, Spasticity, Opisthotonus	OMIM:610678
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Hemiparesis, Sei...	OMIM:604317
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset...	OMIM:618067
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Seizure, Hypotonia, Generalized hypotonia, Opisthotonus	OMIM:210200
Developmental And Epileptic Encephalopathy 90	Bilateral tonic-clonic seizure, Focal-onset seizure, Babinski sign, Ankle clonus, Focal impaired ...	OMIM:301058
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Choreoa...	ORPHA:561854
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Unilateral Focal Polymicrogyria	Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Spastic hemiparesis, Foc...	ORPHA:268947
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Opisthotonus	OMIM:250800
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypertonia, Myoclonus, Febr...	ORPHA:289266
Griscelli Syndrome Type 3	Iris hypopigmentation	ORPHA:79478
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo...	ORPHA:1945
Developmental And Epileptic Encephalopathy 61	Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure, Loss of ambulatio...	OMIM:617933
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys...	OMIM:619028
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Diabetes Mellitus, Permanent Neonatal, 2	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:618856
Sarcosinemia	Bilateral tonic-clonic seizure, Tetraparesis, Ataxia	ORPHA:3129
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Seizure, Bilateral tonic-clonic seizure, Gait imbalance, Gait ataxia	ORPHA:488635
Congenital Disorder Of Glycosylation, Type Iiy	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:620200
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa...	OMIM:616281
Peho-Like Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:617507
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo...	ORPHA:1929
Hyperphenylalaninemia, Bh4-Deficient, B	Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Ge...	OMIM:233910
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im...	OMIM:300607
Nmda Receptor Encephalitis	Generalized-onset seizure, Oculogyric crisis, Involuntary movements, Rigidity, Focal-onset seizur...	ORPHA:217253
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus	OMIM:607876
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,...	OMIM:602481
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo...	OMIM:610539
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Foc...	OMIM:619854
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Crisponi/Cold-Induced Sweating Syndrome 1	Seizure, Opisthotonus	OMIM:272430
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Rigidity, Abnormal p...	ORPHA:199354
Molybdenum Cofactor Deficiency, Complementation Group B	Bilateral tonic-clonic seizure, Spastic tetraplegia, Hypotonia, Opisthotonus, Seizure, Hypertonia...	OMIM:252160
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Opisthotonus, Generalized tonic seizure	OMIM:619685
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere...	ORPHA:254881
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:619428
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:250972
Cln3 Disease	Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, My...	ORPHA:228346
X-Linked Dystonia-Parkinsonism	Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa...	ORPHA:53351
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua...	ORPHA:139431
Late Infantile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Typical absence seizure, Inability t...	ORPHA:168491
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Cerebral palsy, Hypotonia, Opisthotonus, Seizure, Generalized hypotonia	OMIM:210210
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism	OMIM:145750
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on...	ORPHA:501
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Generalized-onset seizure, Axial hypotonia, Inability to walk, Hypotonia, Opisthotonus, Seizure, ...	ORPHA:508533
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Hypertonia, Opisthotonus	ORPHA:3304
Sulfite Oxidase Deficiency, Isolated	Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis, Hypertonia, Hemiplegia	OMIM:272300
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Abnormal muscle tone, Myoclonic...	OMIM:252150
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bradykinesia, Seizure, Slowed slurred ...	OMIM:619827
Intellectual Developmental Disorder, Autosomal Dominant 45	Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ...	OMIM:617600
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
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	Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seizure	OMIM:615716
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Dysmetria, Impaired tandem gait, Gait ataxia, Limb ataxia, ...	OMIM:117360
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypertonia	OMIM:619877
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypertonia, Neonatal death, Generalize...	OMIM:615501
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Aminoacylase 1 Deficiency	Seizure, Bilateral tonic-clonic seizure	OMIM:609924
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Congenital Fibrinogen Deficiency	Opisthotonus	ORPHA:335
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617468
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Mitochondrial Complex I Deficiency, Nuclear Type 13	Spasticity, Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:618235
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe...	OMIM:620292
Intellectual Developmental Disorder, X-Linked 30	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Clumsiness	OMIM:300558
Juvenile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, Poor fine moto...	ORPHA:79264
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615637
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Behavioral Variant Of Frontotemporal Dementia	Bilateral tonic-clonic seizure, Gait disturbance, Fasciculations, Abnormality of extrapyramidal m...	ORPHA:275864
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Multifocal seizures, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Ataxia, Incoordina...	ORPHA:480864
Fatty Acid Hydroxylase-Associated Neurodegeneration	Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic paraparesis, Progressive...	ORPHA:329308
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s...	ORPHA:98795
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Bilateral tonic-clonic seizure	ORPHA:457205
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Lissencephaly 9 With Complex Brainstem Malformation	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Myoclonic seizure, Seizu...	OMIM:618325
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity, G...	ORPHA:457240
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon...	ORPHA:309155
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology	ORPHA:1617
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Fatigable weakness, Fatigable weakness of neck muscles, F...	ORPHA:42
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Pitt-Hopkins-Like Syndrome 1	Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, Status epilep...	OMIM:610042
Coats Disease	Leukocoria	OMIM:300216
Keppen-Lubinsky Syndrome	Spastic tetraparesis, Opisthotonus, Seizure, Hypertonia, Febrile seizure (within the age range of...	OMIM:614098
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure	OMIM:600721
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia	ORPHA:369840
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G...	OMIM:616640
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	Bilateral tonic-clonic seizure, Gait imbalance	OMIM:618120
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Bilateral Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,...	ORPHA:268940
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generalized n...	ORPHA:395
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma...	ORPHA:552
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal impaired awareness seizur...	OMIM:619983
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Seizure	ORPHA:79243
New-Onset Refractory Status Epilepticus	Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal...	ORPHA:363558
Dk1-Cdg	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:91131
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w...	OMIM:617988
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Inability to walk, Seizure, Focal impaired awareness seizure, Lim...	ORPHA:488613
Hydranencephaly	Seizure, Spastic diplegia, Opisthotonus	ORPHA:2177
Keppen-Lubinsky Syndrome	Seizure, Hypertonia, Spastic tetraparesis, Opisthotonus	ORPHA:435628
Neu-Laxova Syndrome	Opisthotonus	ORPHA:2671
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure, Involuntary movements, Focal hyperkinetic sei...	ORPHA:98784
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure, Athetosis, Focal imp...	ORPHA:369929
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Seizure, Difficulty walking, Spasticit...	ORPHA:481152
Lissencephaly Due To Tuba1A Mutation	Focal-onset seizure, Spasticity, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:171680
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se...	OMIM:619835
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:54
Sandhoff Disease	Exaggerated startle response, Bilateral tonic-clonic seizure, Ataxia, Impaired temperature sensat...	OMIM:268800
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasciculations, Toni...	OMIM:617281
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Hypertonia, Spasticity	ORPHA:544503
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia	OMIM:615935
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Lower limb spasticity, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Inability to walk...	OMIM:617193
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myo...	OMIM:620070
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Bilateral tonic-clonic seizure, Babinski sign, Seizure, Status epilepticus, M...	ORPHA:364028
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis...	OMIM:615474
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic...	ORPHA:79351
Houge-Janssens Syndrome 3	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz...	OMIM:618354
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
Ritscher-Schinzel Syndrome 4	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Chorea, Athetosis	OMIM:619435
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor (absence) seizure, M...	OMIM:615398
Spinocerebellar Ataxia Type 29	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Intention tremor	ORPHA:208513
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure	OMIM:616083
Schinzel-Giedion Midface Retraction Syndrome	Seizure, Opisthotonus	OMIM:269150
Congenital Insensitivity To Pain With Severe Intellectual Disability	Impaired tactile sensation, Pain insensitivity, Bilateral tonic-clonic seizure	ORPHA:453510
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen...	ORPHA:457351
Intellectual Developmental Disorder, Autosomal Dominant 42	Cerebral palsy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic...	OMIM:616973
Mitochondrial Trifunctional Protein Deficiency 2	Neonatal death, Seizure, Bilateral tonic-clonic seizure	OMIM:620300
Pelger-Huet Anomaly	Seizure, Lower limb hypertonia, Bilateral tonic-clonic seizure	OMIM:169400
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypertonia, Bilateral tonic-clonic seizure	ORPHA:79350
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset...	ORPHA:1934
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Bilateral tonic-clonic seizure	OMIM:616351
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl...	OMIM:614207
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Warburg Micro Syndrome 3	Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk, Spastic tetraplegia, My...	OMIM:614222
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Inability to w...	OMIM:620224
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure	OMIM:619356
Alternating Hemiplegia Of Childhood	Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p...	ORPHA:2131
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, G...	OMIM:300912
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure	OMIM:619278
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Babinski sign, Limb hypertonia	ORPHA:423479
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Ataxia, Bilateral tonic-clonic seizure, Tetraplegia, Spasticity, Fasciculations, Progressive spas...	ORPHA:496641
Developmental And Epileptic Encephalopathy 95	Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Inability to wa...	OMIM:618143
Biotinidase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Seizure, Spastic p...	ORPHA:79241
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Vocal cord para...	OMIM:617799
Phacoanaphylactic Uveitis	Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo...	ORPHA:209959
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni...	OMIM:620024
3P25.3 Microdeletion Syndrome	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	ORPHA:435638
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:615538
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po...	OMIM:612109
Hyperphosphatasia-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Ataxia, Seizure, Gait disturbance, Myoclonus, Oculomotor apraxia	ORPHA:247262
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) seizure, Hypertoni...	OMIM:615802
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
De Sanctis-Cacchione Syndrome	Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia,...	OMIM:278800
Mitochondrial Dna-Associated Leigh Syndrome	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Gait ataxia, Seizure, Hypertoni...	ORPHA:255210
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse...	OMIM:617798
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
W Syndrome	Spasticity, Bilateral tonic-clonic seizure	ORPHA:2804
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with focal onset, F...	ORPHA:163681
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Amish Lethal Microcephaly	Bilateral tonic-clonic seizure, Limb hypertonia	ORPHA:99742
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spasticity	OMIM:618426
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Glass Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	OMIM:612313
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Congenital Muscular Dystrophy With Cerebellar Involvement	Megalocornea, Cataract, Abnormality iris morphology	ORPHA:370959
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618733
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, Truncal ataxia, Ato...	OMIM:620066
Weaver Syndrome	Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin...	OMIM:277590
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure	OMIM:618165
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, A...	OMIM:614947
Melas	Abnormal central motor function, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Hem...	ORPHA:550
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure with focal onset, Seizure, Gait disturbance, Gait imbalance, Diffi...	ORPHA:488627
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Bilateral tonic-clonic seizure	OMIM:201475
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Ataxia, Inability to walk, Seizure, Hypertonia, Convulsive status epilepticus, Spasticity	OMIM:608885
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypertonia, Myoc...	ORPHA:447997
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure	ORPHA:3044
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho...	ORPHA:2479
Combined Oxidative Phosphorylation Deficiency 3	Tremor, Seizure, Bilateral tonic-clonic seizure, Ataxia	OMIM:610505
Webb-Dattani Syndrome	Spasticity, Bilateral tonic-clonic seizure	OMIM:615926
1Q44 Microdeletion Syndrome	Bilateral tonic-clonic seizure	ORPHA:238769
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hemiparesis, Paraparesis, Bilateral tonic-clonic seizure, Paraplegia	ORPHA:79124
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:614231
Hermansky-Pudlak Syndrome 10	Bilateral tonic-clonic seizure, Focal myoclonic seizure	OMIM:617050
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Mosaic Variegated Aneuploidy Syndrome 1	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Tetraplegia	OMIM:257300
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic-atonic seizure, U...	OMIM:614756
Isolated Permanent Neonatal Diabetes Mellitus	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Apraxia	ORPHA:99885
Cocaine Intoxication	Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse...	ORPHA:90068
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Bilateral tonic-clonic seizure	ORPHA:436159
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Seizure, Spasticity, Bilateral tonic-clonic seizure	OMIM:301040
Kinsship Syndrome	Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ...	OMIM:619297
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Poor coordination, Generalized non-motor (absence) seizure, Seizu...	ORPHA:466943
Choreoacanthocytosis	Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta...	ORPHA:2388
Lujo Hemorrhagic Fever	Seizure, Bilateral tonic-clonic seizure, Resting tremor	ORPHA:319213
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Seizure, Hyper...	ORPHA:268261
Proteus-Like Syndrome	Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis	ORPHA:2969
Pseudoleprechaunism Syndrome, Patterson Type	Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:2976
Neuhauser Syndrome	Hypoplasia of the iris, Iridodonesis, Megalocornea	OMIM:249310
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	ORPHA:369837
Mitochondrial Complex I Deficiency, Nuclear Type 1	Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Tongue fasciculations, Spasticity	OMIM:252010
X Small Rings	Seizure, Bilateral tonic-clonic seizure	ORPHA:96201
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Inability to walk, Seizure, Febrile ...	ORPHA:459070
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris...	OMIM:609049
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait a...	ORPHA:513456
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Duane Retraction Syndrome	Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret...	ORPHA:233
Hallermann-Streiff Syndrome	Choreoathetosis, Bilateral tonic-clonic seizure	OMIM:234100
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Myoclonic seizure, Seizure	OMIM:280000
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca...	OMIM:301044
D-Bifunctional Protein Deficiency	Seizure, Bilateral tonic-clonic seizure	OMIM:261515
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity	ORPHA:1764
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure	OMIM:619512
Gaucher Disease	Bilateral tonic-clonic seizure, Ataxia, Tremor, Hemiplegia/hemiparesis, Oculomotor apraxia, Abnor...	ORPHA:355
Oliver Syndrome	Bilateral tonic-clonic seizure	ORPHA:2920
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Bilateral tonic-clonic seizure, Difficulty walking, Gait ataxia	ORPHA:457359
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Oculodentodigital Dysplasia	Microcornea, Cataract, Abnormality iris morphology	ORPHA:2710
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Ogden Syndrome	Hypertonia, Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure	OMIM:300855
Gillespie Syndrome	Hypoplasia of the iris, Aniridia	OMIM:206700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (abse...	OMIM:620330
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham...	ORPHA:91500
Von Hippel-Lindau Syndrome	Papillary cystadenoma of the epididymis, Epididymal cyst	OMIM:193300
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Epileptic spasm, Broad-based gait, Exaggerated startle response, Involuntary movements, Inability...	ORPHA:438213
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:612474
Holoprosencephaly 14	Bilateral tonic-clonic seizure	OMIM:619895
Renal Cysts And Diabetes Syndrome	Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens	OMIM:137920
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Multiple System Atrophy 1, Susceptibility To	Iris atrophy	OMIM:146500
Doors Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure	ORPHA:79500
Hartsfield Syndrome	Bilateral tonic-clonic seizure	OMIM:615465
Orofaciodigital Syndrome Type 2	Bilateral tonic-clonic seizure	ORPHA:2751
Neonatal Marfan Syndrome	Iridodonesis, Megalocornea, Ectopia lentis	ORPHA:284979
Norrie Disease	Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,...	ORPHA:649
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti...	ORPHA:534
Acrofrontofacionasal Dysostosis 1	Iris atrophy	OMIM:201180
Sotos Syndrome	Bilateral tonic-clonic seizure, Tremor, Poor coordination, Generalized non-motor (absence) seizur...	ORPHA:821
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Absent anterior chamber of the eye	OMIM:259770
Von Hippel-Lindau Disease	Papillary cystadenoma of the epididymis, Epididymal cyst	ORPHA:892
Floating-Harbor Syndrome	Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele	OMIM:136140
Floating-Harbor Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele	ORPHA:2044
Neurooculorenal Syndrome	Iris atrophy	OMIM:620305
Kabuki Syndrome 1	Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:147920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Ax...	ORPHA:261552
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology	ORPHA:286

Histopathology

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

There is no histopathology data for Itpr1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Itpr1.

No publications found that use IMPC mice or data for Itpr1.

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MGI Allele	Allele Type	Produced
Itpr1^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells
Itpr1^{tm357032(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Itpr1^{tm1.1(NCOM)Mfgc}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Itpr1 MGI:96623

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Embryo LacZ

Immunophenotyping

X-ray

Gross Morphology Embryo E9.5

Gross Pathology and Tissue Collection

X-ray

X-ray

OPT E9.5

Immunophenotyping

Human diseases caused by Itpr1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data