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

Download data as: TSV XLS

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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 Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

20 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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OPT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 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 (618 diseases)

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

Disease	Matching phenotypes	Source
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Spinocerebellar Ataxia 29	Truncal titubation, Broad-based gait, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Intention tre...	OMIM:117360
Spinocerebellar Ataxia Type 29	Dysdiadochokinesis, Gait ataxia, Dysmetria, Oculomotor apraxia, Ataxia, Intention tremor	ORPHA:208513
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Gillespie Syndrome	Aniridia, Hypoplasia of the iris	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	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia	ORPHA:22
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Prostatic Hyperplasia, Benign	Benign prostatic hyperplasia	OMIM:600082
Myoclonic Epilepsy, Familial Infantile	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,...	OMIM:605021
Developmental And Epileptic Encephalopathy 15	Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilat...	OMIM:615006
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:619964
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Falls, Seizure, Bradykinesia, Chorea, Hypotonia, Myoclonus, Rigidity, Hyperkin...	ORPHA:13
Seizures, Benign Familial Infantile, 5	Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur...	OMIM:617831
Developmental And Epileptic Encephalopathy 11	Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil...	OMIM:613721
Developmental And Epileptic Encephalopathy 103	Ataxia, Spastic tetraplegia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epilepti...	OMIM:619913
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-...	OMIM:614417
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism...	OMIM:162350
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:616187
Dravet Syndrome	Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz...	OMIM:607208
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Spasticity, Generalized dystonia, Spastic tetraparesis, Inability to walk, Opisthotonus, Parkinso...	OMIM:619653
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Epilepsy, Familial Temporal Lobe, 8	Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons...	OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Difficulty walking, Abnormal exteroceptive sensation, Spasticity of facial muscles, O...	OMIM:205100
Developmental And Epileptic Encephalopathy 12	Spasticity, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:613722
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 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to...	OMIM:254770
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Seizure, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor,...	OMIM:607483
Epilepsy, Progressive Myoclonic, 6	Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, T...	OMIM:614018
Developmental And Epileptic Encephalopathy 31A	Myoclonic seizure, Difficulty walking, Epileptic spasm, Inability to walk, Tonic seizure, Bilater...	OMIM:616346
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo...	OMIM:615400
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl...	OMIM:618587
Developmental And Epileptic Encephalopathy 24	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a...	OMIM:615871
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure	OMIM:615127
Dyskinesia, Limb And Orofacial, Infantile-Onset	Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus, Ax...	OMIM:616921
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon...	OMIM:618396
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure, Ataxia	OMIM:617709
Developmental And Epileptic Encephalopathy 52	Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ...	OMIM:617350
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Epilepsy, Progressive Myoclonic, 8	Falls, Limb ataxia, Myoclonus, Truncal ataxia, Gait disturbance, Bilateral tonic-clonic seizure, ...	OMIM:616230
Epilepsy, Nocturnal Frontal Lobe, 2	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:603204
Developmental And Epileptic Encephalopathy 104	Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic...	OMIM:619970
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia	OMIM:619191
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot...	OMIM:204300
Intellectual Developmental Disorder, Autosomal Dominant 69	Intention tremor, Bilateral tonic-clonic seizure	OMIM:617863
Snijders Blok-Fisher Syndrome	Spasticity, Seizure, Generalized hypotonia, Opisthotonus, Facial hypotonia, Choreoathetosis	OMIM:618604
Developmental And Epileptic Encephalopathy 33	Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Bilateral t...	OMIM:616409
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Perioral Myoclonia With Absences	Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon...	ORPHA:139426
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure	OMIM:619639
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure	OMIM:618425
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Speech apraxia...	ORPHA:725
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ...	OMIM:613855
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Developmental And Epileptic Encephalopathy 53	Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate...	OMIM:617389
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel...	OMIM:618357
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Episodic Ataxia, Type 9	Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status e...	OMIM:618924
Hypermanganesemia With Dystonia 2	Spasticity, Tip-toe gait, Generalized dystonia, Bradykinesia, Inability to walk, Hypotonia, Limb ...	OMIM:617013
Developmental And Epileptic Encephalopathy 34	Seizure, Inability to walk, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure,...	OMIM:616645
Epilepsy, Progressive Myoclonic, 9	Status epilepticus, Myoclonus, Gait ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Fre...	OMIM:616540
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic status epilepticus,...	OMIM:611726
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Juvenile Amyotrophic Lateral Sclerosis	Arm dystonia, Tip-toe gait, Difficulty walking, Inability to walk, Chorea, Spastic diplegia, Retr...	ORPHA:300605
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Spinocerebellar Ataxia, Autosomal Recessive 12	Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Lower limb spasticity, Bilateral tonic-cloni...	OMIM:614322
Stxbp1-Related Encephalopathy	Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr...	ORPHA:599373
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Bilateral tonic-clonic seizure	OMIM:104290
Developmental And Epileptic Encephalopathy 59	Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic ...	OMIM:617904
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Seizure, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski s...	OMIM:615362
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:613608
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Seizure, Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bi...	OMIM:245570
Developmental And Epileptic Encephalopathy 43	Ataxia, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atyp...	OMIM:617113
Generalized Epilepsy With Febrile Seizures-Plus	Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur...	ORPHA:36387
Chromosome 15Q11-Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Truncal ataxia, Unsteady gait, Seizure	OMIM:608636
Developmental And Epileptic Encephalopathy 27	Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil...	OMIM:616139
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma	OMIM:614497
Facial Spasm	Anisocoria	OMIM:134300
Developmental And Epileptic Encephalopathy 26	Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur...	OMIM:616056
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia	OMIM:208700
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Pontocerebellar Hypoplasia, Type 2B	Spasticity, Myoclonic seizure, Seizure, Chorea, Hypotonia, Axial hypotonia, Opisthotonus, Tonic s...	OMIM:612389
Developmental And Epileptic Encephalopathy 42	Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seiz...	OMIM:617106
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:616172
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral...	OMIM:617391
Developmental And Epileptic Encephalopathy 37	Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti...	OMIM:616981
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Generalized myoclonic seizure, Seizure, Chorea, Abnormality of extrapyramidal motor funct...	ORPHA:382
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impaired tandem...	OMIM:300423
Developmental And Epileptic Encephalopathy 94	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:615369
Epilepsy, Familial Adult Myoclonic, 1	Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:601068
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic...	ORPHA:53583
Isolated Focal Cortical Dysplasia	Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ...	ORPHA:65683
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Tip-toe gait, Seizure, Generalized dystonia, Inability to walk, Opisthotonus, Gait di...	ORPHA:216866
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Tonic seizure, Gait disturbance, Bil...	OMIM:618090
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Hand tremor, Myoclonus, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal mo...	OMIM:608105
Centralopathic Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure	OMIM:117100
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Bilateral tonic-clonic seizure, Seizure	OMIM:614499
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:602477
Febrile Seizures, Familial, 1	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:121210
Febrile Seizures, Familial, 5	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609255
Febrile Seizures, Familial, 6	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609253
Febrile Seizures, Familial, 4	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:604352
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Mitochondrial Complex I Deficiency, Nuclear Type 12	Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Freque...	OMIM:301020
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Myoclonic Epilepsy Of Infancy	Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Feb...	ORPHA:86909
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Clumsiness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:610003
Insulinomatosis And Diabetes Mellitus	Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h...	OMIM:147630
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ...	OMIM:620537
Cerebral Creatine Deficiency Syndrome 2	Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor...	OMIM:612736
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Involuntary movements, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617171
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Spasticity, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait	OMIM:620317
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613863
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia	OMIM:254800
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Atonic seizure, Generalized myoclonic seizure	OMIM:612437
Landau-Kleffner Syndrome	Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Seizure, Generalized non...	ORPHA:98818
Developmental Delay With Or Without Epilepsy	Ataxia, Spasticity, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:620540
Autosomal Dominant Spastic Paraplegia Type 6	Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Gait disturbanc...	ORPHA:100988
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis	OMIM:300388
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Gait disturbanc...	OMIM:618141
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Autosomal Dominant Epilepsy With Auditory Features	Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons...	ORPHA:101046
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Myoclonic seizure, Focal impaired awareness seizure, Generalized hypotonia, Inability to walk, Ep...	OMIM:619580
Unilateral Hemispheric Polymicrogyria	Generalized myoclonic seizure, Infantile spasms, Hemiparesis, Focal atonic seizure, Bilateral ton...	ORPHA:101071
Developmental And Epileptic Encephalopathy 84	Spasticity, Seizure, Generalized hypotonia, Epileptic spasm, Chorea, Opisthotonus, Babinski sign,...	OMIM:618792
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ...	OMIM:619317
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Developmental And Epileptic Encephalopathy 109	Spasticity, Myoclonic seizure, Typical absence seizure, Crouch gait, Myoclonus, Gait ataxia, Foca...	OMIM:620145
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gait a...	OMIM:617810
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni...	ORPHA:79137
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure	OMIM:266100
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:604233
Benign Familial Neonatal-Infantile Seizures	Neonatal seizure, Episodic ataxia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se...	ORPHA:140927
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ...	ORPHA:726
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Spastic tetraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 ...	OMIM:619847
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Lennox-Gastaut Syndrome	Falls, Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure,...	ORPHA:2382
Adenylosuccinase Deficiency	Spasticity, Seizure, Generalized hypotonia, Inability to walk, Hemiplegia, Hypotonia, Myoclonus, ...	OMIM:103050
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613060
Yoon-Bellen Neurodevelopmental Syndrome	Spasticity, Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Generali...	OMIM:619701
Dentatorubral-Pallidoluysian Atrophy	Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis	OMIM:125370
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate...	OMIM:608096
Developmental Delay And Seizures With Or Without Movement Abnormalities	Myoclonic absence seizure, Tremor, Rigidity, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia...	OMIM:617836
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Glutaric Acidemia I	Seizure, Generalized hypotonia, Hypotonia, Rigidity, Opisthotonus, Dystonia, Choreoathetosis, Spa...	OMIM:231670
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Focal impaired awareness seizure, Seizure, Difficulty walking, Inability to walk, Focal-onset sei...	ORPHA:330050
Familial Focal Epilepsy With Variable Foci	Infantile spasms, Paresthesia, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral t...	ORPHA:98820
Lissencephaly 10	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:618873
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:101039
Cerebellar Atrophy, Developmental Delay, And Seizures	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617643
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614558
Combined Oxidative Phosphorylation Deficiency 27	Tetraparesis, Chorea, Hypotonia, Myoclonus, Opisthotonus, Severe muscular hypotonia, Bilateral to...	OMIM:616672
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral ...	OMIM:619157
Dystonia 22, Juvenile-Onset	Dysdiadochokinesis, Dysmetria, Lower limb spasticity, Bilateral tonic-clonic seizure, Torticollis...	OMIM:620453
Pontocerebellar Hypoplasia, Type 7	Tongue fasciculations, Spasticity, Spastic paraplegia, Seizure, Hypotonia, Myoclonus, Opisthotonu...	OMIM:614969
Progressive Myoclonic Epilepsy Type 3	Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:263516
Epilepsy, Familial Temporal Lobe, 6	Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ...	OMIM:615697
Paroxysmal Non-Kinesigenic Dyskinesia	Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma...	ORPHA:98810
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:611364
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Spasticity, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired aware...	ORPHA:208441
Developmental And Epileptic Encephalopathy 31B	Involuntary movements, Myoclonic seizure, Seizure, Generalized hypotonia, Hypotonia, Infantile sp...	OMIM:620352
Oxoglutarate Dehydrogenase Deficiency	Falls, Gait ataxia, Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Unsteady gait	OMIM:203740
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure	ORPHA:163721
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur...	OMIM:609800
Lissencephaly 3	Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia	OMIM:611603
Developmental And Epileptic Encephalopathy 98	Refractory status epilepticus, Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizur...	OMIM:619605
Pontocerebellar Hypoplasia, Type 2E	Spasticity, Myoclonic seizure, Neonatal hypotonia, Infantile spasms, Myoclonus, Opisthotonus, Ton...	OMIM:615851
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607631
Developmental And Epileptic Encephalopathy 101	Seizure, Hypotonia, Myoclonus, Opisthotonus, Axial hypotonia	OMIM:619814
Alg11-Cdg	Ataxia, Seizure, Opisthotonus, Limb hypertonia, Infantile muscular hypotonia, Hypertonia, Axial h...	ORPHA:280071
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Chorioretinal coloboma	OMIM:616428
3-Methylglutaconic Aciduria Type 7	Spasticity, Seizure, Hypotonia, Myoclonus, Abnormality of extrapyramidal motor function, Opisthot...	ORPHA:445038
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilateral tonic-clonic seizu...	OMIM:618093
Developmental And Epileptic Encephalopathy 91	Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic se...	OMIM:617711
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parki...	OMIM:619911
D-Glyceric Aciduria	Spasticity, Spastic tetraplegia, Neonatal hypotonia, Seizure, Focal clonic seizure, Hypotonia, My...	OMIM:220120
Developmental And Epileptic Encephalopathy 63	Myoclonic seizure, Seizure, Cerebral palsy, Generalized-onset seizure, Epileptic spasm, Inability...	OMIM:617976
Seizures, Benign Familial Neonatal, 1	Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ...	OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Seizures, Benign Familial Infantile, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni...	OMIM:607745
Developmental And Epileptic Encephalopathy 108	Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n...	OMIM:620115
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, P...	OMIM:609446
Seizures, Benign Familial Infantile, 2	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:605751
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Spastic diplegia	OMIM:619065
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Myoclonus, Hyperkinetic movements...	OMIM:618497
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom...	OMIM:614487
Kohlschutter-Tonz Syndrome	Spasticity, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure	OMIM:226750
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Gait ataxia, Broad-based gait, Hand tremor, Bilateral tonic-clonic seizure	OMIM:617862
Lissencephaly Due To Lis1 Mutation	Focal impaired awareness seizure, Neonatal hypotonia, Seizure, Infantile spasms, Generalized toni...	ORPHA:95232
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Neonatal hypotonia, Seizure, Hypotonia, Myoclonus, Tremor, Hyperkinetic movements, Op...	OMIM:616271
Pontocerebellar Hypoplasia, Type 2A	Seizure, Chorea, Opisthotonus, Dystonia, Extrapyramidal dyskinesia	OMIM:277470
Intellectual Developmental Disorder, Autosomal Dominant 5	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure, Torticollis	OMIM:612621
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure	OMIM:616341
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Spasticity, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Cho...	OMIM:618917
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Developmental And Epileptic Encephalopathy 32	Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Hypoto...	OMIM:616366
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Febrile Seizures, Familial, 11	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:614418
Epilepsy, Familial Focal, With Variable Foci 4	Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb...	OMIM:617935
Congenital Disorder Of Glycosylation, Type Ip	Opisthotonus, Hypotonia, Neonatal hypotonia, Seizure	OMIM:613661
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria, Babinski sign, Apr...	ORPHA:93952
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate...	ORPHA:363549
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Bilateral tonic-clonic seizure	ORPHA:139406
Pontocerebellar Hypoplasia, Type 14	Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure, Hyperto...	OMIM:619301
Neurodevelopmental Disorder With Spasticity And Poor Growth	Spasticity, Myoclonic seizure, Seizure, Generalized dystonia, Infantile spasms, Myoclonus, Opisth...	OMIM:618076
Intellectual Developmental Disorder, X-Linked 1	Bilateral tonic-clonic seizure, Seizure, Atonic seizure	OMIM:309530
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Inability to walk, Broad-based gait, Infantile spasms, Bilateral tonic-clonic seizure	OMIM:618470
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Chiari Malformation Type Ii	Opisthotonus, Hypotonia, Generalized hypotonia, Ataxia	OMIM:207950
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficulty walking, Inability t...	ORPHA:2590
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s...	OMIM:619606
Lesch-Nyhan Syndrome	Spasticity, Seizure, Hypotonia, Abnormality of extrapyramidal motor function, Opisthotonus, Dysto...	OMIM:300322
Familial Infantile Myoclonic Epilepsy	Ataxia, Blepharospasm, Limb myoclonus, Seizure, Focal-onset seizure, Clumsiness, Bilateral tonic-...	ORPHA:352582
Epilepsy, Childhood Absence, Susceptibility To, 1	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ...	OMIM:600131
Febrile Seizures, Familial, 8	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ...	OMIM:607681
Congenital Disorder Of Glycosylation, Type Iaa	Appendicular spasticity, Status epilepticus, Bilateral tonic-clonic seizure, Pseudobulbar paralysis	OMIM:617082
Pontocerebellar Hypoplasia, Type 15	Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure, Hyperto...	OMIM:619302
Canavan Disease	Epileptic spasm, Hypotonia, Opisthotonus, Abnormal pyramidal sign, Bilateral tonic-clonic seizure	OMIM:271900
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spasticity, Myoclonic seizure, Spastic tetraplegia, Seizure, Generalized non-motor (absence) seiz...	OMIM:619616
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Malignant Migrating Focal Seizures Of Infancy	Myoclonic seizure, Inability to walk, Epileptic spasm, Bilateral tonic-clonic seizure with focal ...	ORPHA:293181
Developmental And Epileptic Encephalopathy 93	Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to wa...	OMIM:618012
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Hyperkinetic mov...	OMIM:271980
Spastic Paraplegia 82, Autosomal Recessive	Babinski sign, Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Spasti...	OMIM:618770
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:609056
Infantile Krabbe Disease	Hyperesthesia, Spasticity, Seizure, Infantile axial hypotonia, Myoclonus, Ankle clonus, Opisthoto...	ORPHA:206436
Developmental And Epileptic Encephalopathy 47	Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait disturbance, Bilateral t...	OMIM:617166
Bilateral Generalized Polymicrogyria	Spasticity, Generalized myoclonic seizure, Typical absence seizure, Spastic tetraplegia, Generali...	ORPHA:208447
Cataracts, Spastic Paraparesis, And Speech Delay	Spastic paraparesis, Generalized non-motor (absence) seizure, Complex febrile seizure, Bilateral ...	OMIM:619338
Developmental And Epileptic Encephalopathy 102	Generalized myoclonic seizure, Inability to walk, Tonic seizure, Focal emotional seizure with lau...	OMIM:619881
Mitochondrial Complex I Deficiency, Nuclear Type 37	Seizure, Hypotonia, Opisthotonus, Tetraplegia, Hypertonia, Status epilepticus	OMIM:619272
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, Bi...	ORPHA:313772
Stiff-Person Syndrome	Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls	OMIM:184850
Hyperlysinemia	Poor motor coordination, Tip-toe gait, Seizure, Dysmetria, Tremor, Neck hypertonia, Opisthotonus,...	ORPHA:2203
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Spastic ...	OMIM:605711
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g...	OMIM:619290
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Loss of ambulation, Parkinsonis...	OMIM:204200
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ...	OMIM:601764
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Spasticity, Focal impaired awareness seizure, Seizure, Chorea, Bilateral tonic-clonic seizure, St...	OMIM:613970
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Spastic paraplegia, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Spastic gait	OMIM:615031
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Bila...	ORPHA:529665
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst	OMIM:620086
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619000
Clcn4-Related X-Linked Intellectual Disability Syndrome	Upper limb spasticity, Seizure, Generalized non-motor (absence) seizure, Chorea, Infantile spasms...	ORPHA:485350
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Spasticity, Chorea, Infantile spasms, Hyperkinetic movements, Bilateral to...	OMIM:617493
Brain Small Vessel Disease 2	Hemiplegia, Spastic tetraplegia, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Somatic sensory dysfunction, Bradykinesia, Progressive ext...	ORPHA:454887
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:620461
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Parkinsonism, Nocturnal seizures, Bilateral...	OMIM:619725
Systemic Primary Carnitine Deficiency	Clumsiness, Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Developmental And Epileptic Encephalopathy 41	Spasticity, Myoclonic seizure, Tetraparesis, Inability to walk, Epileptic spasm, Status epileptic...	OMIM:617105
Developmental And Epileptic Encephalopathy 23	Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal...	OMIM:615859
Japanese Encephalitis	Pill-rolling tremor, Myoclonus, Cogwheel rigidity, Tremor, Abnormality of extrapyramidal motor fu...	ORPHA:79139
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Tongue fasciculations, Seizure, Generalized non-motor (absence) seizure, Dysmetria, Babinski sign...	OMIM:618170
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Spastic tetraplegia, Generalized myoclonic seizure, Epileptic spasm, Tremor, ...	OMIM:612164
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Opisthotonus, Axial hypotonia, Hypertonia	OMIM:616896
Developmental And Epileptic Encephalopathy 106	Focal clonic seizure, Infantile spasms, Tonic seizure, Limb hypertonia, Bilateral tonic-clonic se...	OMIM:620028
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Myoclonic seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Hypertonia, Clonic s...	OMIM:617290
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Mitochondrial Complex I Deficiency, Nuclear Type 15	Spastic tetraplegia, Bilateral tonic-clonic seizure, Neonatal death	OMIM:618237
Tetanus	Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscles, Hypertonia	ORPHA:3299
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Focal myoclonic seizure, Seizure, Progressive spastic paraplegia, Difficulty walking,...	ORPHA:464282
Severe Canavan Disease	Spasticity, Seizure, Inability to walk, Babinski sign, Bilateral tonic-clonic seizure, Decerebrat...	ORPHA:314911
Developmental And Epileptic Encephalopathy 79	Migrating focal seizure, Spasticity, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure w...	OMIM:618559
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Convulsive status epilepticus, Chorea, Focal-onset seizure	OMIM:618760
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Opisthotonus, Hypertonia, Tremor	OMIM:250800
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Severe Neonatal-Onset Encephalopathy With Microcephaly	Bilateral tonic-clonic seizure, Spasticity, Involuntary movements, Seizure	ORPHA:209370
Infantile Cerebellar-Retinal Degeneration	Athetosis, Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia	OMIM:614559
Combined Oxidative Phosphorylation Deficiency 4	Opisthotonus, Spasticity, Neonatal hypotonia	OMIM:610678
Foxg1 Syndrome	Spasticity, Difficulty walking, Inability to walk, Infantile spasms, Myoclonus, Focal-onset seizu...	ORPHA:561854
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generali...	OMIM:618067
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Seizure, Generalized-onset seizure, Hemiparesis, Bilateral tonic-clonic seizure, Hypertonia, Spas...	OMIM:604317
Developmental And Epileptic Encephalopathy 90	Focal-onset seizure, Ankle clonus, Babinski sign, Limb hypertonia, Bilateral tonic-clonic seizure...	OMIM:301058
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Opisthotonus, Hypotonia, Seizure, Generalized hypotonia	OMIM:210200
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera...	ORPHA:289266
Rolandic Epilepsy	Febrile seizure (within the age range of 3 months to 6 years), Dysesthesia, Bilateral tonic-cloni...	ORPHA:1945
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Unilateral Focal Polymicrogyria	Seizure, Bilateral tonic-clonic seizure with focal onset, Spastic hemiparesis, Hemiparesis, Simpl...	ORPHA:268947
Griscelli Syndrome Type 3	Iris hypopigmentation	ORPHA:79478
Sarcosinemia	Ataxia, Bilateral tonic-clonic seizure, Tetraparesis	ORPHA:3129
Developmental And Epileptic Encephalopathy 61	Spasticity, Seizure, Focal clonic seizure, Loss of ambulation, Bilateral tonic-clonic seizure wit...	OMIM:617933
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic seizure with generaliz...	OMIM:619028
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Diabetes Mellitus, Permanent Neonatal, 2	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure	OMIM:618856
Autosomal Recessive Frontotemporal Pachygyria	Bilateral tonic-clonic seizure, Seizure	ORPHA:329329
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Bilateral tonic-clonic seizure, Gait imbalance, Gait ataxia, Seizure	ORPHA:488635
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance	OMIM:610947
Congenital Disorder Of Glycosylation, Type Iiy	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:620200
Peho-Like Syndrome	Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617507
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Spasticity, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hyp...	OMIM:616281
Developmental And Epileptic Encephalopathy 28	Ataxia, Spasticity, Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epile...	OMIM:616211
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Involuntary move...	ORPHA:1929
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Developmental And Epileptic Encephalopathy 8	Tonic seizure, Hypertonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Exag...	OMIM:300607
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Difficulty walking, Chorea, Bilateral tonic-clonic seizure, Truncal ataxia, Waddling gait	ORPHA:369840
Nmda Receptor Encephalitis	Involuntary movements, Oculogyric crisis, Seizure, Generalized-onset seizure, Chorea, Myoclonus, ...	ORPHA:217253
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Bilateral toni...	OMIM:602481
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:607876
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hypertonia, Foc...	OMIM:619854
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spasticity, Somatic sensory dysfunction, Pseudobulbar paralysis, Hemiparesis, Rigidity, Spastic a...	ORPHA:199354
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Crisponi/Cold-Induced Sweating Syndrome 1	Opisthotonus, Seizure	OMIM:272430
Molybdenum Cofactor Deficiency, Type B	Seizure, Hypotonia, Opisthotonus, Bilateral tonic-clonic seizure, Myoclonic spasms, Hypertonia, S...	OMIM:252160
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Intention tremor, Clonic sei...	OMIM:610539
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Generalized tonic seizure, Opisthotonus	OMIM:619685
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Infantile spasms, Seizure	ORPHA:250972
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Myoclonus, Gait ataxia, Dysmetria, Tremor, Dysdi...	ORPHA:254881
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype...	OMIM:613135
Epilepsy With Eyelid Myoclonia	Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of...	ORPHA:139431
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Focal impaired awareness seizure, Seizure, Head tremor, Infantile spasms, Tonic seizure, Bilatera...	OMIM:619428
Auriculocondylar Syndrome 2B	Opisthotonus, Hypotonia	OMIM:620458
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Torsion dystonia, Difficulty walking,...	ORPHA:53351
Late Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Spasticity, Myoclonic seizure, Typical absence seizure, Seizure, Inability to walk, Myocl...	ORPHA:168491
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance	OMIM:145750
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Cerebral palsy, Seizure, Generalized hypotonia, Hypotonia, Opisthotonus	OMIM:210210
Neovascular Glaucoma	Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio...	ORPHA:94058
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Focal myoclonic seizure, Seizure, Generalized hypotonia, Generalized-onset seizure, Inability to ...	ORPHA:508533
Lafora Disease	Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized ...	ORPHA:501
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Opisthotonus, Hypertonia	ORPHA:3304
Molybdenum Cofactor Deficiency, Type A	Seizure, Abnormal muscle tone, Opisthotonus, Myoclonic spasms, Spastic tetraparesis, Spastic tetr...	OMIM:252150
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Sulfite Oxidase Deficiency, Isolated	Ataxia, Hemiplegia, Hypertonia, Bilateral tonic-clonic seizure, Choreoathetosis	OMIM:272300
Gaucher Disease, Perinatal Lethal	Opisthotonus, Akinesia, Seizure	OMIM:608013
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Involuntary movements, Myoclonic seizure, Seizure, Inability to walk, Bilateral tonic-clonic seizure	OMIM:615716
Spinocerebellar Ataxia 29	Truncal titubation, Broad-based gait, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Intention tre...	OMIM:117360
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bradykinesia, Slowed slurred ...	OMIM:619827
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Chorea, Myoclonus, Bi...	OMIM:617600
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Gait ataxia, Myoc...	ORPHA:101
Dentici-Novelli Neurodevelopmental Syndrome	Myoclonic seizure, Inability to walk, Epileptic spasm, Hypertonia, Bilateral tonic-clonic seizure	OMIM:619877
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Aminoacylase 1 Deficiency	Bilateral tonic-clonic seizure, Seizure	OMIM:609924
Molybdenum Cofactor Deficiency, Type C	Generalized-onset seizure, Neonatal death, Limb hypertonia, Hypertonia, Bilateral tonic-clonic se...	OMIM:615501
Congenital Fibrinogen Deficiency	Opisthotonus	ORPHA:335
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Myoclonic Epilepsy Of Lafora 1	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit...	OMIM:254780
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Stillbirth	OMIM:617468
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6...	OMIM:620292
Intellectual Developmental Disorder, Autosomal Dominant 74	Hypertonia, Typical absence seizure, Bilateral tonic-clonic seizure	OMIM:620688
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Mitochondrial Complex I Deficiency, Nuclear Type 13	Spasticity, Focal motor seizure, Bilateral tonic-clonic seizure	OMIM:618235
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:615637
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Seizure, Loss of ambulation, Clumsiness, Parkinsonism, Bilateral tonic-c...	ORPHA:79264
Intellectual Developmental Disorder, X-Linked 30	Bilateral tonic-clonic seizure, Clumsiness, Seizure, Generalized non-motor (absence) seizure	OMIM:300558
Hyperekplexia 3	Hypertonia, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response	OMIM:614618
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Involuntary movements, Generalized myoclonic seizure, Seizure, Incoordination, Infantile spasms, ...	ORPHA:480864
Behavioral Variant Of Frontotemporal Dementia	Fasciculations, Abnormality of extrapyramidal motor function, Gait disturbance, Bilateral tonic-c...	ORPHA:275864
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Fatty Acid Hydroxylase-Associated Neurodegeneration	Falls, Progressive spastic paraplegia, Progressive spastic paraparesis, Loss of ambulation, Progr...	ORPHA:329308
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Tremor, Hyperkinetic movements, Gait disturbance, Bilateral tonic-clonic seizure, Upper ...	ORPHA:457240
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized onset,...	ORPHA:98795
Lissencephaly 9 With Complex Brainstem Malformation	Spasticity, Myoclonic seizure, Involuntary movements, Seizure, Infantile spasms, Bilateral tonic-...	OMIM:618325
Sandhoff Disease, Infantile Form	Spasticity, Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated st...	ORPHA:309155
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Bilateral tonic-clonic seizure	ORPHA:457205
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology	ORPHA:1617
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se...	OMIM:615476
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Febrile seizure (within the age range of 3 months to 6 years), Fatigable weakness, Fatigable weak...	ORPHA:42
Keppen-Lubinsky Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Opisthotonus, Hypertonia,...	OMIM:614098
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Coats Disease	Leukocoria	OMIM:300216
Pitt-Hopkins-Like Syndrome 1	Spasticity, Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with fo...	OMIM:610042
Alfadhel Syndrome	Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure	OMIM:620655
Epilepsy, Progressive Myoclonic, 10	Spasticity, Spastic tetraplegia, Seizure, Myoclonus, Spastic ataxia, Ataxia, Generalized myocloni...	OMIM:616640
Glycosylphosphatidylinositol Biosynthesis Defect 17	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Febrile seizure (within t...	OMIM:618010
D-2-Hydroxyglutaric Aciduria 1	Myoclonic seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure	OMIM:600721
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Bilateral tonic-clonic seizure, Hemiparesis	OMIM:540000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Gait imbalance, Bilateral tonic-clonic seizure	OMIM:618120
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc...	ORPHA:552
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Bilateral Polymicrogyria	Seizure, Pseudobulbar paralysis, Generalized-onset seizure, Infantile spasms, Spastic hemiparesis...	ORPHA:268940
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Spasticity, Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awar...	OMIM:619983
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Spastic paraparesis, Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Hemip...	ORPHA:395
Childhood Absence Epilepsy	Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a...	ORPHA:64280
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia	ORPHA:79243
Hydranencephaly	Opisthotonus, Seizure, Spastic diplegia	ORPHA:2177
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Seizure, Inability to walk, Limb hypertonia, Bilateral tonic-clonic seizure, Focal impaired aware...	ORPHA:488613
Dk1-Cdg	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure	ORPHA:91131
Keppen-Lubinsky Syndrome	Opisthotonus, Spastic tetraparesis, Hypertonia, Seizure	ORPHA:435628
New-Onset Refractory Status Epilepticus	Focal aware motor seizure, Focal autonomic seizure, Myoclonic seizure, Focal impaired awareness s...	ORPHA:363558
Jaberi-Elahi Syndrome	Broad-based gait, Inability to walk, Gait ataxia, Dysmetria, Appendicular spasticity, Tremor, Bil...	OMIM:617988
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Spastic paraplegia, Focal myoclonic seizure, Seizure, Cerebral palsy, Bilateral tonic-clonic seiz...	ORPHA:369929
Neu-Laxova Syndrome	Opisthotonus	ORPHA:2671
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Bilateral tonic-clonic seizure, Involuntary movements, Nocturnal seizures, Focal hyperkinetic sei...	ORPHA:98784
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Spasticity, Focal myoclonic seizure, Seizure, Difficulty walking, Inability to walk, Limb hyperto...	ORPHA:481152
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se...	OMIM:619835
Lissencephaly Due To Tuba1A Mutation	Spasticity, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:171680
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism	ORPHA:54
Developmental And Epileptic Encephalopathy 49	Spasticity, Myoclonic seizure, Spastic tetraplegia, Facial-lingual fasciculations, Myoclonus, Ton...	OMIM:617281
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Spasticity, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Hypertonia	ORPHA:544503
Sandhoff Disease	Spasticity, Myoclonic seizure, Fasciculations, Impaired temperature sensation, Bilateral tonic-cl...	OMIM:268800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Tongue fasciculations, Seizure, Cataplexy, Inability to walk, Epileptic spasm, Generalized tonic ...	OMIM:617193
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Myoclonic seizure, Cerebral palsy, Appendicular spasticity, Limb hypertonia, Bilateral tonic-clon...	OMIM:620070
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Spasticity, Seizure, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure...	ORPHA:364028
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Spasticity, Myoclonic seizure, Cerebral palsy, Bilateral tonic-clonic seizure, Athetosis, Spastic...	OMIM:615474
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Spasticity, Spastic tetraplegia, Generalized non-motor (absence) seizure, Epileptic spasm, Bilate...	ORPHA:79351
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:618354
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Focal clonic seizure, Intention tremor, Bilateral tonic-clonic seizure	OMIM:618381
Ritscher-Schinzel Syndrome 4	Chorea, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Focal-onset seizure	OMIM:619435
Spinocerebellar Ataxia Type 29	Dysdiadochokinesis, Gait ataxia, Dysmetria, Oculomotor apraxia, Ataxia, Intention tremor	ORPHA:208513
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sei...	OMIM:616973
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Ankle clonus, Babinski sign,...	OMIM:615398
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A...	ORPHA:263479
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Schinzel-Giedion Midface Retraction Syndrome	Opisthotonus, Seizure	OMIM:269150
Congenital Insensitivity To Pain With Severe Intellectual Disability	Pain insensitivity, Bilateral tonic-clonic seizure, Impaired tactile sensation	ORPHA:453510
Combined Oxidative Phosphorylation Deficiency 58	Epilepsia partialis continua, Difficulty walking, Myoclonus, Gait ataxia, Appendicular spasticity...	OMIM:620451
Early Infantile Epileptic Encephalopathy	Spasticity, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age ran...	ORPHA:1934
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure	OMIM:616083
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypertonia, Bilateral tonic-clonic seizure	ORPHA:79350
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Seizure, Lower limb hypertonia	OMIM:169400
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Spasticity, Seizure, Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms...	ORPHA:457351
Mitochondrial Trifunctional Protein Deficiency 2	Bilateral tonic-clonic seizure, Seizure, Neonatal death	OMIM:620300
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m...	OMIM:619777
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Bilateral tonic-clonic seizure	OMIM:616351
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ...	OMIM:614207
Alternating Hemiplegia Of Childhood	Seizure, Tetraparesis, Episodic hemiplegia, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, Oc...	ORPHA:2131
Warburg Micro Syndrome 3	Myoclonic seizure, Inability to walk, Ankle clonus, Lower limb spasticity, Bilateral tonic-clonic...	OMIM:614222
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral...	OMIM:620224
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure	OMIM:619356
Intellectual Developmental Disorder, X-Linked 98	Ataxia, Generalized non-motor (absence) seizure, Infantile spasms, Tonic seizure, Lower limb spas...	OMIM:300912
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure	OMIM:619278
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Developmental And Epileptic Encephalopathy 111	Convulsive status epilepticus, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizu...	OMIM:620504
Biotinidase Deficiency	Spastic paraparesis, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Focal mot...	ORPHA:79241
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Spasticity, Cataplexy, Febrile seizure (within the age range of 3 months to 6 years), Fasciculati...	ORPHA:496641
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Spasticity, Seizure, Generalized non-motor (absence) seizure, Babinski sign, Bilateral tonic-clon...	OMIM:615802
Developmental And Epileptic Encephalopathy 95	Seizure, Inability to walk, Focal-onset seizure, Gait disturbance, Bilateral tonic-clonic seizure...	OMIM:618143
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Babinski sign, Clonus, Limb hypertonia, Bilateral tonic-clonic seizure, Spastic tetraparesis	ORPHA:423479
Phacoanaphylactic Uveitis	Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ...	ORPHA:209959
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Spastic tetraplegia, Myoclonic seizure, Focal impaired awareness seizure, Generalized-onset seizu...	OMIM:620024
Intellectual Developmental Disorder, Autosomal Dominant 54	Atonic seizure, Seizure, Inability to walk, Hyperkinetic movements, Lower limb spasticity, Vocal ...	OMIM:617799
3P25.3 Microdeletion Syndrome	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	ORPHA:435638
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla...	OMIM:106210
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Retinitis Pigmentosa 97	Iris atrophy	OMIM:620422
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ...	OMIM:612109
Chromosome 22Q13 Duplication Syndrome	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:615538
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:301091
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Poor coordination, Myoclonic spasms	ORPHA:478029
Hyperphosphatasia-Intellectual Disability Syndrome	Seizure, Myoclonus, Oculomotor apraxia, Gait disturbance, Bilateral tonic-clonic seizure, Ataxia	ORPHA:247262
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Mitochondrial Dna-Associated Leigh Syndrome	Spasticity, Seizure, Chorea, Infantile spasms, Gait ataxia, Bilateral tonic-clonic seizure, Ataxi...	ORPHA:255210
De Sanctis-Cacchione Syndrome	Spasticity, Babinski sign, Scissor gait, Bilateral tonic-clonic seizure, Ataxia, Hypertonia, Chor...	OMIM:278800
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Late-Onset Retinal Degeneration	Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab...	ORPHA:67042
Intellectual Developmental Disorder, Autosomal Dominant 53	Involuntary movements, Generalized non-motor (absence) seizure, Febrile seizure (within the age r...	OMIM:617798
Amish Lethal Microcephaly	Limb hypertonia, Bilateral tonic-clonic seizure	ORPHA:99742
Cntnap2-Related Developmental And Epileptic Encephalopathy	Cerebral palsy, Seizure, Focal-onset seizure, Lower limb spasticity, Ataxia, Bilateral tonic-clon...	ORPHA:163681
W Syndrome	Spasticity, Bilateral tonic-clonic seizure	ORPHA:2804
Axenfeld-Rieger Syndrome, Type 3	Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ...	OMIM:602482
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Hypertonia	OMIM:618426
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ...	ORPHA:3163
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Glass Syndrome	Bilateral tonic-clonic seizure, Broad-based gait, Seizure, Febrile seizure (within the age range ...	OMIM:612313
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Abnormality iris morphology, Megalocornea	ORPHA:370959
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Infantile spasms, Bilateral tonic-clonic seizure	OMIM:618733
Weaver Syndrome	Spasticity, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hyp...	OMIM:277590
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Inability to walk, Bilateral tonic-clonic seizure, Atonic seizure, Tru...	OMIM:620066
Combined Oxidative Phosphorylation Deficiency 15	Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Bilateral tonic-...	OMIM:614947
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure	OMIM:618165
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Seizure, Difficulty walking, Gait imbalance, Gait disturbance, Bilateral tonic-clonic seizure wit...	ORPHA:488627
Juvenile Glaucoma	Abnormality iris morphology, Abnormal anterior chamber morphology	ORPHA:98977
Melas	Seizure, Abnormal central motor function, Myoclonus, Hemiparesis, Gait disturbance, Bilateral ton...	ORPHA:550
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Convulsive status epilepticus, Spasticity, Seizure, Inability to walk, Hypertonia, Ataxia	OMIM:608885
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Bilateral tonic-clonic seizure	OMIM:201475
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Infantile spasms, Lower limb spasticity, Clonus, Bilateral tonic-clonic seizure, Myoclonic spasms...	ORPHA:447997
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Combined Oxidative Phosphorylation Deficiency 3	Bilateral tonic-clonic seizure, Tremor, Seizure, Ataxia	OMIM:610505
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral t...	OMIM:614231
Megalocornea-Intellectual Disability Syndrome	Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho...	ORPHA:2479
Webb-Dattani Syndrome	Spasticity, Bilateral tonic-clonic seizure	OMIM:615926
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years)	ORPHA:3044
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Paraplegia, Paraparesis, Bilateral tonic-clonic seizure, Hemiparesis	ORPHA:79124
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant...	OMIM:601552
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria	OMIM:619649
1Q44 Microdeletion Syndrome	Bilateral tonic-clonic seizure	ORPHA:238769
Hermansky-Pudlak Syndrome 10	Focal myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:617050
Neuhauser Syndrome	Hypoplasia of the iris, Megalocornea, Iridodonesis, Iris transillumination defect, Corneal arcus	OMIM:249310
Mosaic Variegated Aneuploidy Syndrome 1	Bilateral tonic-clonic seizure, Tetraplegia, Generalized myoclonic seizure, Seizure	OMIM:257300
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia	ORPHA:99885
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Spasticity, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm,...	OMIM:620455
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Seizure, Hand tremor, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, A...	OMIM:614756
Cocaine Intoxication	Involuntary movements, Seizure, Focal-onset seizure, Tremor, Bilateral tonic-clonic seizure, Atyp...	ORPHA:90068
Choreoacanthocytosis	Blepharospasm, Impaired vibratory sensation, Involuntary movements, Poor motor coordination, Fall...	ORPHA:2388
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Bilateral tonic-clonic seizure	ORPHA:436159
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Spasticity, Seizure	OMIM:301040
Kinsship Syndrome	Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure, Spastic tetra...	OMIM:619297
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	ORPHA:466943
Lujo Hemorrhagic Fever	Bilateral tonic-clonic seizure, Resting tremor, Seizure	ORPHA:319213
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Seizure, Inability to walk, Limb hypertonia, Bilateral tonic-clonic seizure, Spastic ...	OMIM:620371
Pseudoleprechaunism Syndrome, Patterson Type	Bilateral tonic-clonic seizure, Atonic seizure	ORPHA:2976
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ataxia, Broad-based gait, Typical absence seizure, Seizure, Febrile seizure (within the age range...	ORPHA:268261
Proteus-Like Syndrome	Heterochromia iridis, Cataract, Abnormal pupil morphology, Limbal dermoid	ORPHA:2969
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Babinski sign, Bilateral tonic-clonic seizure, Ataxia	OMIM:252010
X Small Rings	Bilateral tonic-clonic seizure, Seizure	ORPHA:96201
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General...	ORPHA:369837
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Genera...	ORPHA:459070
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
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, Myoclonic seizure, Seizure, Gait ataxia, Bilateral tonic-clonic seizure	OMIM:280000
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Hypertonia, Spastic tetraparesis, Mult...	OMIM:301044
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Myoclonic spasms, Bilateral tonic-clonic seizure	ORPHA:73224
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a...	ORPHA:513456
D-Bifunctional Protein Deficiency	Bilateral tonic-clonic seizure, Seizure	OMIM:261515
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Familial Dysautonomia	Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity	ORPHA:1764
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Tonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619512
Duane Retraction Syndrome	Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pupil morphology, ...	ORPHA:233
Oliver Syndrome	Bilateral tonic-clonic seizure	ORPHA:2920
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Difficulty walking, Gait ataxia, Bilateral tonic-clonic seizure	ORPHA:457359
Oculodentodigital Dysplasia	Cataract, Microcornea, Abnormality iris morphology	ORPHA:2710
Gaucher Disease	Hemiplegia/hemiparesis, Tremor, Abnormality of extrapyramidal motor function, Oculomotor apraxia,...	ORPHA:355
Weill-Marchesani Syndrome 2	Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Iridodonesis, Shallow anterior chamber,...	OMIM:608328
Gillespie Syndrome	Aniridia, Hypoplasia of the iris	OMIM:206700
Ogden Syndrome	Generalized-onset seizure, Hypertonia, Bilateral tonic-clonic seizure, Torticollis	OMIM:300855
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure,...	OMIM:620330
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia...	ORPHA:91500
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Anisocoria	ORPHA:90658
Von Hippel-Lindau Syndrome	Epididymal cyst, Papillary cystadenoma of the epididymis	OMIM:193300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Involuntary movements, Broad-based gait, Seizure, Bilateral tonic-clonic seizure on awakening, In...	ORPHA:438213
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bilateral tonic-clonic seizure, Tremor, Seizure, Generalized non-motor (absence) seizure	OMIM:612474
Holoprosencephaly 14	Bilateral tonic-clonic seizure	OMIM:619895
Renal Cysts And Diabetes Syndrome	Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus, Bicornuate uterus, Hypospadias	OMIM:137920
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Multiple System Atrophy 1, Susceptibility To	Iris atrophy	OMIM:146500
Neonatal Marfan Syndrome	Iridodonesis, Ectopia lentis, Megalocornea	ORPHA:284979
Orofaciodigital Syndrome Type 2	Bilateral tonic-clonic seizure	ORPHA:2751
Doors Syndrome	Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	ORPHA:79500
Hartsfield Syndrome	Bilateral tonic-clonic seizure	OMIM:615465
Norrie Disease	Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o...	ORPHA:649
Acrofrontofacionasal Dysostosis 1	Iris atrophy	OMIM:201180
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Abnormal pupil morphology, Corneal opacity, Chorioretinal dysplasia, Bupht...	ORPHA:534
Sotos Syndrome	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Tremor, Bilatera...	ORPHA:821
Osteoporosis-Pseudoglioma Syndrome	Cataract, Absent anterior chamber of the eye, Iris atrophy	OMIM:259770
Floating-Harbor Syndrome	Varicocele, Glandular hypospadias, Cryptorchidism, Epididymal cyst, Hypospadias	OMIM:136140
Von Hippel-Lindau Disease	Epididymal cyst, Papillary cystadenoma of the epididymis	ORPHA:892
Neurooculorenal Syndrome	Iris atrophy	OMIM:620305
Floating-Harbor Syndrome	Precocious puberty, Varicocele, Cryptorchidism, Epididymal cyst, Hypospadias	ORPHA:2044
Kabuki Syndrome 1	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Seizure	OMIM:147920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cataract, Microcornea, Ectopia pupillae, Abnormal pupil morphology, Axenfeld anomaly, Astigmatism...	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

X-ray

Gross Morphology Embryo E9.5

X-ray

Embryo LacZ

Gross Pathology and Tissue Collection

OPT E9.5

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Itpr1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data