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

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

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

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

Anatomy	Background staining in controls (WT)

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

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

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

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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OPT E9.5

Embryo reconstruction

8 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Embryo LacZ

LacZ images wholemount

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Gross Morphology Embryo E9.5

Images

2 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	Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A...	ORPHA:98769
Spinocerebellar Ataxia 29	Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tre...	OMIM:117360
Spinocerebellar Ataxia Type 29	Oculomotor apraxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, Ataxia, Dysmetria	ORPHA:208513
Spinocerebellar Ataxia 15	Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor	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	Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4	Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:606392
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2	Type II diabetes mellitus, Transient neonatal diabetes mellitus	OMIM:610374
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Succinic Semialdehyde Dehydrogenase Deficiency	Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure	ORPHA:22
Epilepsy, Familial Temporal Lobe, 1	Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur...	OMIM:600512
Prostatic Hyperplasia, Benign	Benign prostatic hyperplasia	OMIM:600082
Myoclonic Epilepsy, Familial Infantile	Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ...	OMIM:605021
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seiz...	OMIM:615006
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Bradykinesia, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Falls, Abnormality of extrap...	ORPHA:13
Seizures, Benign Familial Infantile, 5	Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera...	OMIM:617831
Developmental And Epileptic Encephalopathy 11	Hyperkinetic movements, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal...	OMIM:613721
Developmental And Epileptic Encephalopathy 103	Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Bilateral tonic-cloni...	OMIM:619913
Epilepsy, Familial Temporal Lobe, 5	Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-...	OMIM:614417
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Myoclonic ...	OMIM:162350
Epilepsy, Progressive Myoclonic 7	Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus	OMIM:616187
Dravet Syndrome	Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur...	OMIM:607208
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c...	OMIM:620465
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Inability to walk, Apraxia, Spasticity, Spastic tetraparesis, Axial hypotonia, Dystonia, Opisthot...	OMIM:619653
Benign Familial Infantile Epilepsy	Generalized non-motor (absence) seizure, Generalized clonic seizure, Hypertonia, Focal-onset seiz...	ORPHA:306
Epilepsy, Familial Temporal Lobe, 8	Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph...	OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Amyotrophic Lateral Sclerosis 2, Juvenile	Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Head titubation, Ataxia, Opisth...	OMIM:205100
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Focal-onset seizure, Spasticity, Tonic seizure, Bilateral tonic-clonic seizure	OMIM:613722
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Developmental And Epileptic Encephalopathy 9	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila...	OMIM:300088
Epilepsy, Myoclonic Juvenile	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni...	OMIM:254770
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Seizure, Craniofacial d...	OMIM:607483
Epilepsy, Progressive Myoclonic, 6	Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Tremor...	OMIM:614018
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Difficulty walking, Inability to walk, Bilateral tonic-clonic seizure, Tonic sei...	OMIM:616346
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, Fo...	OMIM:615400
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei...	OMIM:618587
Developmental And Epileptic Encephalopathy 24	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb...	OMIM:615871
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Generalized non-motor (absence) seizure, Typical absence seizure, Truncal ataxia, Episodic ataxia...	OMIM:607682
Epilepsy, Familial Adult Myoclonic, 4	Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls, Axial hypotonia, ...	OMIM:616921
Developmental And Epileptic Encephalopathy 74	Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica...	OMIM:618396
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Ataxia, Bilateral tonic-clonic seizure	OMIM:617709
Developmental And Epileptic Encephalopathy 52	Limb ataxia, Generalized myoclonic seizure, Spasticity, Seizure, Bilateral tonic-clonic seizure, ...	OMIM:617350
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Epilepsy, Progressive Myoclonic, 8	Limb ataxia, Falls, Truncal ataxia, Gait disturbance, Action myoclonus, Bilateral tonic-clonic se...	OMIM:616230
Epilepsy, Nocturnal Frontal Lobe, 2	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:603204
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness...	OMIM:619970
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria	OMIM:619191
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral tonic-clonic seizure...	OMIM:204300
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure, Intention tremor	OMIM:617863
Snijders Blok-Fisher Syndrome	Facial hypotonia, Spasticity, Seizure, Opisthotonus, Generalized hypotonia, Choreoathetosis	OMIM:618604
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Typical absence seizure, Incoordination, Seizure, Bilateral tonic-clonic seizure...	OMIM:616409
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Bilateral tonic-clonic seizure, Inability to walk, Lower limb spasticity	OMIM:619639
Perioral Myoclonia With Absences	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid...	ORPHA:139426
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:618425
Continuous Spikes And Waves During Sleep	Typical absence seizure, Focal-onset seizure, Hyperkinetic movements, Focal motor seizure, Seizur...	ORPHA:725
Episodic Ataxia, Type 5	Typical absence seizure, Truncal ataxia, Episodic ataxia, Bilateral tonic-clonic seizure, Atypica...	OMIM:613855
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:613370
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Spast...	OMIM:617389
Seizures, Benign Familial Neonatal, 2	Bilateral tonic-clonic seizure, Focal clonic seizure	OMIM:121201
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur...	OMIM:618357
Episodic Ataxia, Type 9	Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon...	OMIM:618924
Hypermanganesemia With Dystonia 2	Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ...	OMIM:617013
Developmental And Epileptic Encephalopathy 34	Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:616645
Epilepsy, Progressive Myoclonic, 9	Generalized myoclonic seizure, Frequent falls, Action myoclonus, Gait ataxia, Bilateral tonic-clo...	OMIM:616540
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Generalized myoclonic seizure, Myoclonic status epilepticus, Truncal ataxia, Bilateral tonic-clon...	OMIM:611726
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure...	OMIM:612899
Juvenile Amyotrophic Lateral Sclerosis	Tip-toe gait, Hypertonia, Oromandibular dystonia, Difficulty walking, Inability to walk, Lower li...	ORPHA:300605
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Spinocerebellar Ataxia, Autosomal Recessive 12	Limb ataxia, Babinski sign, Lower limb spasticity, Spasticity, Bilateral tonic-clonic seizure, Ga...	OMIM:614322
Stxbp1-Related Encephalopathy	Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Spasticity, Tremor, Focal moto...	ORPHA:599373
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila...	OMIM:604403
Alternating Hemiplegia Of Childhood 1	Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Bilateral tonic-clonic seizure	OMIM:104290
Developmental And Epileptic Encephalopathy 59	Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Ataxia, Focal...	OMIM:617904
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Seizure, Tremor...	OMIM:615362
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Focal-onset seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus	OMIM:613608
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with...	OMIM:245570
Developmental And Epileptic Encephalopathy 43	Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At...	OMIM:617113
Generalized Epilepsy With Febrile Seizures-Plus	Bradykinesia, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset...	ORPHA:36387
Chromosome 15Q11-Q13 Duplication Syndrome	Truncal ataxia, Seizure, Unsteady gait, Bilateral tonic-clonic seizure	OMIM:608636
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Chorea, Seizure, Spasticity, Infantile spasms, Bilateral tonic-clonic seizure, M...	OMIM:616139
Microphthalmia/Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Facial Spasm	Anisocoria	OMIM:134300
Developmental And Epileptic Encephalopathy 26	Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset...	OMIM:616056
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Seizure, Generalized myoclonic seizure, Ataxia, Myoclonus	OMIM:208700
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Pontocerebellar Hypoplasia, Type 2B	Babinski sign, Limb hypertonia, Chorea, Spasticity, Seizure, Tonic seizure, Clonus, Axial hypoton...	OMIM:612389
Developmental And Epileptic Encephalopathy 42	Hypertonia, Tremor, Athetosis, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure...	OMIM:617106
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s...	OMIM:616172
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis	OMIM:601820
Developmental And Epileptic Encephalopathy 37	Hyperkinetic movements, Chorea, Spasticity, Cogwheel rigidity, Gait disturbance, Focal hemiclonic...	OMIM:616981
Developmental And Epileptic Encephalopathy 54	Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,...	OMIM:617391
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Seizure, Gait disturbance, Bilateral ton...	OMIM:300423
Guanidinoacetate Methyltransferase Deficiency	Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Chorea, Seizure, Ath...	ORPHA:382
Developmental And Epileptic Encephalopathy 94	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ...	OMIM:615369
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Tremor, Bilateral tonic-clonic seizure	OMIM:601068
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Paroxysmal dyskinesia, Episodic ataxia, Bilateral tonic-clonic seizure, Spastic paraplegia, Abnor...	ORPHA:53583
Isolated Focal Cortical Dysplasia	Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-...	ORPHA:65683
Classic Pantothenate Kinase-Associated Neurodegeneration	Tip-toe gait, Inability to walk, Spasticity, Seizure, Frequent falls, Gait disturbance, Opisthoto...	ORPHA:216866
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Generalized myoclonic seizure, Inability to walk, Tremor, Gait disturbance, Gait ataxia, Bilatera...	OMIM:618090
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus, Focal hemifacial clonic seizure, ...	OMIM:608105
Centralopathic Epilepsy	Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset	OMIM:117100
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:609253
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:604352
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e...	OMIM:601631
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Mitochondrial Complex I Deficiency, Nuclear Type 12	Generalized myoclonic seizure, Gait imbalance, Seizure, Frequent falls, Bilateral tonic-clonic se...	OMIM:301020
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-...	OMIM:616685
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Myoclonic Epilepsy Of Infancy	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon...	ORPHA:86909
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Clumsiness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:610003
Developmental And Epileptic Encephalopathy 112	Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz...	OMIM:620537
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ...	OMIM:612736
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Status epilepticus, Bilateral tonic-clonic seizure, Involuntary movements	OMIM:617171
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Inability to walk, Seizure, Spasticity, Bilateral tonic-clonic seizure, Unsteady gait, Ataxia	OMIM:620317
Myoclonus, Familial, 1	Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus	OMIM:614937
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb...	OMIM:613863
Myoclonic Epilepsy Of Unverricht And Lundborg	Generalized non-motor (absence) seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus	OMIM:254800
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Landau-Kleffner Syndrome	Generalized non-motor (absence) seizure, Generalized clonic seizure, Steppage gait, Focal myoclon...	ORPHA:98818
Developmental Delay With Or Without Epilepsy	Spastic gait, Generalized non-motor (absence) seizure, Focal-onset seizure, Spasticity, Seizure, ...	OMIM:620540
Autosomal Dominant Spastic Paraplegia Type 6	Babinski sign, Lower limb spasticity, Gait disturbance, Bilateral tonic-clonic seizure, Spastic p...	ORPHA:100988
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Athetosis, Gait disturban...	OMIM:618141
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis	OMIM:300388
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur...	ORPHA:1941
Unilateral Hemispheric Polymicrogyria	Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, Bilat...	ORPHA:101071
Autosomal Dominant Epilepsy With Auditory Features	Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera...	ORPHA:101046
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Epileptic spasm, Inability to walk, Limb hypertonia, Bilateral tonic-clonic seizure, Gait ataxia,...	OMIM:619580
Developmental And Epileptic Encephalopathy 84	Babinski sign, Epileptic spasm, Chorea, Spasticity, Seizure, Axial hypotonia, Dystonia, Opisthoto...	OMIM:618792
Developmental And Epileptic Encephalopathy 6B	Generalized non-motor (absence) seizure, Epileptic spasm, Hyperkinetic movements, Focal-onset sei...	OMIM:619317
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal o...	OMIM:612691
Developmental And Epileptic Encephalopathy 109	Typical absence seizure, Spasticity, Bilateral tonic-clonic seizure, Gait ataxia, Tonic seizure, ...	OMIM:620145
Epilepsy, Idiopathic Generalized	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:600669
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:256450
Glycosylphosphatidylinositol Biosynthesis Defect 15	Generalized non-motor (absence) seizure, Inability to walk, Apraxia, Spasticity, Tremor, Bilatera...	OMIM:617810
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure	OMIM:266100
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Chorea, Generalized-onset seizure...	ORPHA:79137
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:604233
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Benign Familial Neonatal-Infantile Seizures	Neonatal seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic se...	ORPHA:140927
Alpers-Huttenlocher Syndrome	Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare...	ORPHA:726
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Babinski sign, Hypertonia, Spasticity, Seizure, Cerebral palsy, Limb dystonia, Clonus, Febrile se...	OMIM:619847
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Lennox-Gastaut Syndrome	Generalized myoclonic seizure, Focal-onset seizure, Falls, Bilateral tonic-clonic seizure, Atypic...	ORPHA:2382
Adenylosuccinase Deficiency	Inability to walk, Spasticity, Seizure, Gait ataxia, Opisthotonus, Generalized hypotonia, Myoclon...	OMIM:103050
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Yoon-Bellen Neurodevelopmental Syndrome	Inability to walk, Infantile spasms, Spasticity, Bilateral tonic-clonic seizure, Ataxia, Status e...	OMIM:619701
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila...	OMIM:613060
Dentatorubral-Pallidoluysian Atrophy	Chorea, Seizure, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis	OMIM:125370
Epilepsy, Familial Temporal Lobe, 2	Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ...	OMIM:608096
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-c...	OMIM:617836
Glutaric Acidemia I	Seizure, Rigidity, Dystonia, Opisthotonus, Hypotonia, Generalized hypotonia, Choreoathetosis, Spa...	OMIM:231670
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Generalized myoclonic seizure, Difficulty walking, Focal-onset seizure, Inability to walk, Seizur...	ORPHA:330050
Familial Focal Epilepsy With Variable Foci	Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se...	ORPHA:98820
Lissencephaly 10	Generalized non-motor (absence) seizure, Torticollis, Generalized-onset seizure, Bilateral tonic-...	OMIM:618873
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur...	ORPHA:101039
Cerebellar Atrophy, Developmental Delay, And Seizures	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617643
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic...	OMIM:614558
Combined Oxidative Phosphorylation Deficiency 27	Chorea, Bilateral tonic-clonic seizure, Dystonia, Opisthotonus, Hypotonia, Myoclonus, Status epil...	OMIM:616672
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Seizure, Bilatera...	OMIM:619157
Dystonia 22, Juvenile-Onset	Torticollis, Lower limb spasticity, Dysdiadochokinesis, Bilateral tonic-clonic seizure, Intention...	OMIM:620453
Pontocerebellar Hypoplasia, Type 7	Hypertonia, Oculomotor apraxia, Tongue fasciculations, Spasticity, Seizure, Spastic paraplegia, A...	OMIM:614969
Progressive Myoclonic Epilepsy Type 3	Focal myoclonic seizure, Progressive cerebellar ataxia, Photosensitive myoclonic seizure, Bilater...	ORPHA:263516
Epilepsy, Familial Temporal Lobe, 6	Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the...	OMIM:615697
Paroxysmal Non-Kinesigenic Dyskinesia	Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi...	ORPHA:98810
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t...	OMIM:611364
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Seizure, Infantile spasms, Myoclonus, Involuntary movements, Clonus, Myo...	OMIM:620352
Oxoglutarate Dehydrogenase Deficiency	Falls, Bilateral tonic-clonic seizure, Gait ataxia, Rigidity, Unsteady gait, Dysmetria	OMIM:203740
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Seizure, Spasticity, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Pseudobulb...	ORPHA:208441
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Speech apraxia, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:163721
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t...	OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:609800
Lissencephaly 3	Seizure, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Generalized tonic seizure	OMIM:611603
Developmental And Epileptic Encephalopathy 98	Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton...	OMIM:619605
Pontocerebellar Hypoplasia, Type 2E	Neonatal hypotonia, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spasticity...	OMIM:615851
Developmental And Epileptic Encephalopathy 101	Seizure, Axial hypotonia, Opisthotonus, Hypotonia, Myoclonus	OMIM:619814
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607631
Microphthalmia/Coloboma 10	Chorioretinal coloboma, Microcoria, Iris coloboma	OMIM:616428
Alg11-Cdg	Hypertonia, Limb hypertonia, Seizure, Infantile muscular hypotonia, Axial hypotonia, Ataxia, Opis...	ORPHA:280071
3-Methylglutaconic Aciduria Type 7	Hypertonia, Abnormality of extrapyramidal motor function, Spasticity, Seizure, Progressive extrap...	ORPHA:445038
Spinocerebellar Ataxia 48	Babinski sign, Chorea, Tremor, Bilateral tonic-clonic seizure, Gait ataxia, Ataxia, Parkinsonism,...	OMIM:618093
Intellectual Developmental Disorder, X-Linked 100	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:300923
D-Glyceric Aciduria	Neonatal hypotonia, Focal clonic seizure, Appendicular spasticity, Spasticity, Seizure, Bilateral...	OMIM:220120
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Focal motor seizure, Seizure, Bilateral...	OMIM:619911
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Spasticity, Focal motor seizure, Seizure, Bilateral tonic-clonic seizure, Tonic ...	OMIM:617711
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Seizure, Generalized-onset sei...	OMIM:617976
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Seizures, Benign Familial Infantile, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ...	OMIM:607745
Developmental And Epileptic Encephalopathy 108	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T...	OMIM:620115
Seizures, Benign Familial Infantile, 2	Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ...	OMIM:605751
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure wi...	OMIM:609446
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Spastic diplegia	OMIM:619065
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Hyperkinetic movements, Inability to walk, Seizure, Bilateral tonic-clonic seizu...	OMIM:618497
Spastic Ataxia 5, Autosomal Recessive	Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Bilateral toni...	OMIM:614487
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Hand tremor, Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia	OMIM:617862
Kohlschutter-Tonz Syndrome	Focal-onset seizure, Seizure, Spasticity, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia	OMIM:226750
Lissencephaly Due To Lis1 Mutation	Neonatal hypotonia, Generalized myoclonic seizure, Tetraplegia, Focal motor seizure, Seizure, Inf...	ORPHA:95232
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypotonia, Hyperkinetic movements, Spasticity, Tremor, Seizure, Dystonia, Ataxia, Opisth...	OMIM:616271
Pontocerebellar Hypoplasia, Type 2A	Chorea, Seizure, Dystonia, Opisthotonus, Extrapyramidal dyskinesia	OMIM:277470
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Developmental And Epileptic Encephalopathy 30	Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:616341
Intellectual Developmental Disorder, Autosomal Dominant 5	Myoclonic absence seizure, Seizure, Torticollis, Bilateral tonic-clonic seizure	OMIM:612621
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Focal-onset seizure, Inability to walk, Chorea, Spasticity, Bilateral tonic-clonic seizure, Gait ...	OMIM:618917
Developmental And Epileptic Encephalopathy 32	Seizure, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure...	OMIM:616366
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ...	OMIM:614418
Epilepsy, Familial Focal, With Variable Foci 4	Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Foca...	OMIM:617935
Congenital Disorder Of Glycosylation, Type Ip	Neonatal hypotonia, Seizure, Opisthotonus, Hypotonia	OMIM:613661
X-Linked Intellectual Disability, Hedera Type	Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Frequent falls, Gait...	ORPHA:93952
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr...	ORPHA:363549
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Pontocerebellar Hypoplasia, Type 14	Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz...	OMIM:619301
Neurodevelopmental Disorder With Spasticity And Poor Growth	Babinski sign, Oculomotor apraxia, Limb hypertonia, Spasticity, Seizure, Infantile spasms, Intent...	OMIM:618076
Intellectual Developmental Disorder, X-Linked 1	Seizure, Atonic seizure, Bilateral tonic-clonic seizure	OMIM:309530
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Infantile spasms, Inability to walk, Bilateral tonic-clonic seizure, Broad-based gait	OMIM:618470
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Chiari Malformation Type Ii	Hypotonia, Ataxia, Opisthotonus, Generalized hypotonia	OMIM:207950
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Generalized myoclonic seizure, Difficulty walking, Myoclonic status epilepticus...	ORPHA:2590
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ...	OMIM:619606
Lesch-Nyhan Syndrome	Abnormality of extrapyramidal motor function, Spasticity, Seizure, Dystonia, Opisthotonus, Hypoto...	OMIM:300322
Familial Infantile Myoclonic Epilepsy	Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni...	ORPHA:352582
Epilepsy, Childhood Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:600131
Febrile Seizures, Familial, 8	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:607681
Congenital Disorder Of Glycosylation, Type Iaa	Status epilepticus, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Appendicular spasticity	OMIM:617082
Pontocerebellar Hypoplasia, Type 15	Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz...	OMIM:619302
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure, Opisthotonus, Hypotonia, Abnormal pyramidal sign	OMIM:271900
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Generalized non-motor (absence) seizure, Focal-onset seizure, Spastic hemiparesis, Spasticity, Se...	OMIM:619616
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Hypertonia, Inability to walk, Focal emotional seizure with laughing, Bilateral ...	ORPHA:293181
Developmental And Epileptic Encephalopathy 93	Focal-onset seizure, Inability to walk, Infantile spasms, Spastic tetraparesis, Gait disturbance,...	OMIM:618012
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Spastic Paraplegia 82, Autosomal Recessive	Bilateral tonic-clonic seizure with generalized onset, Babinski sign, Spasticity, Focal-onset sei...	OMIM:618770
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, S...	OMIM:271980
Salt And Pepper Developmental Regression Syndrome	Status epilepticus, Choreoathetosis, Bilateral tonic-clonic seizure, Myoclonus	OMIM:609056
Infantile Krabbe Disease	Generalized myoclonic seizure, Lower limb spasticity, Ankle clonus, Decerebrate rigidity, Spastic...	ORPHA:206436
Developmental And Epileptic Encephalopathy 47	Limb ataxia, Focal-onset seizure, Inability to walk, Gait disturbance, Bilateral tonic-clonic sei...	OMIM:617166
Bilateral Generalized Polymicrogyria	Paroxysmal dyskinesia, Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typi...	ORPHA:208447
Cataracts, Spastic Paraparesis, And Speech Delay	Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com...	OMIM:619338
Developmental And Epileptic Encephalopathy 102	Generalized myoclonic seizure, Inability to walk, Focal emotional seizure with laughing, Bilatera...	OMIM:619881
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypertonia, Seizure, Tetraplegia, Opisthotonus, Hypotonia, Status epilepticus	OMIM:619272
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Generalized myoclonic seizure, Spastic dysarthria, Oculomotor apraxia, Spasticity, Dysdiadochokin...	ORPHA:313772
Stiff-Person Syndrome	Frequent falls, Exaggerated startle response, Myoclonic spasms, Rigidity, Opisthotonus	OMIM:184850
Hyperlysinemia	Tip-toe gait, Simple febrile seizure, Neck hypertonia, Seizure, Tremor, Spastic tetraparesis, Poo...	ORPHA:2203
Multiple Mitochondrial Dysfunctions Syndrome 1	Focal-onset seizure, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Axial hy...	OMIM:605711
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent...	OMIM:619290
Ceroid Lipofuscinosis, Neuronal, 3	Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Loss of am...	OMIM:204200
Seizures, Benign Familial Infantile, 1	Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impaired awareness se...	OMIM:601764
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Chorea, Seizure, Spasticity, Bilateral tonic-clonic seizure, Status epilepticus, Focal impaired a...	OMIM:613970
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Spastic gait, Bilateral tonic-clonic seizure, Gait ataxia, Spastic paraplegia, Dysmetria	OMIM:615031
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Seizure, Bilateral tonic-clonic seizu...	ORPHA:529665
Aniridia 2	Cataract, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst	OMIM:620086
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619000
Clcn4-Related X-Linked Intellectual Disability Syndrome	Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Lower limb spasticity, Ch...	ORPHA:485350
Neurodevelopmental Disorder With Involuntary Movements	Hyperkinetic movements, Chorea, Spasticity, Athetosis, Infantile spasms, Bilateral tonic-clonic s...	OMIM:617493
Brain Small Vessel Disease 2	Spastic tetraplegia, Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells	OMIM:606762
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Corticobasal Syndrome	Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid...	ORPHA:454887
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure	OMIM:620461
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Bi...	OMIM:619725
Systemic Primary Carnitine Deficiency	Clumsiness, Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Developmental And Epileptic Encephalopathy 41	Babinski sign, Epileptic spasm, Myoclonic status epilepticus, Inability to walk, Spasticity, Foca...	OMIM:617105
Developmental And Epileptic Encephalopathy 23	Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, Myoclonus, Focal...	OMIM:615859
Japanese Encephalitis	Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ...	ORPHA:79139
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Generalized non-motor (absence) seizure, Babinski sign, Tongue fasciculations, Seizure, Bilateral...	OMIM:618170
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Tremor, Bilateral toni...	OMIM:612164
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Axial hypotonia, Hypertonia, Opisthotonus	OMIM:616896
Developmental And Epileptic Encephalopathy 106	Limb hypertonia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic se...	OMIM:620028
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Hypertonia, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic s...	OMIM:617290
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Mitochondrial Complex I Deficiency, Nuclear Type 15	Spastic tetraplegia, Neonatal death, Bilateral tonic-clonic seizure	OMIM:618237
Tetanus	Hypertonia, Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscles	ORPHA:3299
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Generalized myoclonic seizure, Difficulty walking, Focal myoclonic seizure, Lower limb spasticity...	ORPHA:464282
Severe Canavan Disease	Babinski sign, Inability to walk, Decerebrate rigidity, Seizure, Spasticity, Bilateral tonic-clon...	ORPHA:314911
Developmental And Epileptic Encephalopathy 79	Bilateral tonic-clonic seizure with generalized onset, Spasticity, Seizure, Tonic seizure, Myoclo...	OMIM:618559
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Convulsive status epilepticus, Chorea, Focal-onset seizure, Inability to walk	OMIM:618760
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Tremor, Opisthotonus	OMIM:250800
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Severe Neonatal-Onset Encephalopathy With Microcephaly	Seizure, Spasticity, Bilateral tonic-clonic seizure, Involuntary movements	ORPHA:209370
Infantile Cerebellar-Retinal Degeneration	Focal-onset seizure, Athetosis, Ataxia, Bilateral tonic-clonic seizure	OMIM:614559
Combined Oxidative Phosphorylation Deficiency 4	Neonatal hypotonia, Spasticity, Opisthotonus	OMIM:610678
Foxg1 Syndrome	Difficulty walking, Hyperkinetic movements, Inability to walk, Focal-onset seizure, Spasticity, I...	ORPHA:561854
Developmental And Epileptic Encephalopathy 66	Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Seizure, Focal tonic seizure, B...	OMIM:618067
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hypertonia, Seizure, Generalized-onset seizure, Spastic tetraparesis, Bilateral tonic-clonic seiz...	OMIM:604317
Developmental And Epileptic Encephalopathy 90	Babinski sign, Focal-onset seizure, Limb hypertonia, Bilateral tonic-clonic seizure, Ankle clonus...	OMIM:301058
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Seizure, Opisthotonus, Hypotonia, Generalized hypotonia	OMIM:210200
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Hypertonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Febrile seizure...	ORPHA:289266
Rolandic Epilepsy	Focal-onset seizure, Dysesthesia, Bilateral tonic-clonic seizure with focal onset, Atypical absen...	ORPHA:1945
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A...	ORPHA:98769
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Unilateral Focal Polymicrogyria	Simple febrile seizure, Spastic hemiparesis, Poor fine motor coordination, Focal motor seizure, S...	ORPHA:268947
Griscelli Syndrome Type 3	Iris hypopigmentation	ORPHA:79478
Sarcosinemia	Tetraparesis, Ataxia, Bilateral tonic-clonic seizure	ORPHA:3129
Developmental And Epileptic Encephalopathy 61	Seizure, Spasticity, Bilateral tonic-clonic seizure with focal onset, Loss of ambulation, Focal c...	OMIM:617933
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Ataxia, Myo...	OMIM:619028
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Diabetes Mellitus, Permanent Neonatal, 2	Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:618856
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Seizure, Gait imbalance, Bilateral tonic-clonic seizure, Gait ataxia	ORPHA:488635
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance	OMIM:610947
Congenital Disorder Of Glycosylation, Type Iiy	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:620200
Peho-Like Syndrome	Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus	OMIM:617507
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Generalized non-motor (absence) seizure, Hypertonia, Seizure, Spasticity, Bilateral tonic-clonic ...	OMIM:616281
Developmental And Epileptic Encephalopathy 28	Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Spasticity,...	OMIM:616211
Rasmussen Subacute Encephalitis	Repeated focal motor seizures, Epilepsia partialis continua, Epileptic spasm, Focal-onset seizure...	ORPHA:1929
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Aniridia-Intellectual Disability Syndrome	Cataract, Ectopia lentis, Aniridia	ORPHA:1068
Developmental And Epileptic Encephalopathy 8	Hypertonia, Tonic seizure, Bilateral tonic-clonic seizure, Exaggerated startle response, Focal im...	OMIM:300607
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Difficulty walking, Chorea, Truncal ataxia, Waddling gait, Bilateral tonic-clonic seizure	ORPHA:369840
Nmda Receptor Encephalitis	Focal-onset seizure, Oculogyric crisis, Chorea, Seizure, Generalized-onset seizure, Involuntary m...	ORPHA:217253
Migraine, Familial Hemiplegic, 2	Apraxia, Focal motor seizure, Tremor, Episodic ataxia, Bilateral tonic-clonic seizure, Gait ataxi...	OMIM:602481
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Myoclonus	OMIM:607876
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Generalized non-motor (absence) seizure, Hypertonia, Seizure, Bilateral tonic-clonic seizure, Foc...	OMIM:619854
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spasticity, Gait disturbance, Bilateral tonic-clonic seizure, Hemiparesis, Rigidity, Spastic atax...	ORPHA:199354
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:616722
Crisponi/Cold-Induced Sweating Syndrome 1	Seizure, Opisthotonus	OMIM:272430
Molybdenum Cofactor Deficiency, Complementation Group B	Hypertonia, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Opisthotonus, Hypotonia, S...	OMIM:252160
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Seizure, Bilateral tonic-clonic seizure with focal onset, Intention tremor, Myoclonus, Status epi...	OMIM:610539
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Generalized tonic seizure, Opisthotonus	OMIM:619685
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Infantile spasms, Bilateral tonic-clonic seizure	ORPHA:250972
Spinocerebellar Ataxia With Epilepsy	Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Bilateral tonic-clonic se...	ORPHA:254881
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:619428
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Auriculocondylar Syndrome 2B	Opisthotonus, Hypotonia	OMIM:620458
Klippel-Feil Syndrome 3, Autosomal Dominant	Chorioretinal coloboma, Iris coloboma	OMIM:613702
X-Linked Dystonia-Parkinsonism	Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav...	ORPHA:53351
Late Infantile Neuronal Ceroid Lipofuscinosis	Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Inability to walk, C...	ORPHA:168491
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance	OMIM:145750
Neovascular Glaucoma	Abnormal anterior chamber morphology, Corneal stromal edema, Rubeosis iridis, Conjunctival hypere...	ORPHA:94058
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seizure, Cerebral palsy, Opisthotonus, Hypotonia, Generalized hypotonia	OMIM:210210
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypertonia, Focal myoclonic seizure, Inability to walk, Seizure, Generalized-onset seizure, Axial...	ORPHA:508533
Lafora Disease	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Inab...	ORPHA:501
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Hypertonia, Opisthotonus	ORPHA:3304
Molybdenum Cofactor Deficiency, Complementation Group A	Seizure, Spastic tetraparesis, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Abnormal musc...	OMIM:252150
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos	OMIM:251750
Sulfite Oxidase Deficiency, Isolated	Hypertonia, Bilateral tonic-clonic seizure, Ataxia, Hemiplegia, Choreoathetosis	OMIM:272300
Gaucher Disease, Perinatal Lethal	Seizure, Akinesia, Opisthotonus	OMIM:608013
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Seizure, Bilateral tonic-clonic seizure, Involuntary movements, Myoclonic seizure	OMIM:615716
Spinocerebellar Ataxia 29	Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tre...	OMIM:117360
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Slowed slurred ...	OMIM:619827
Intellectual Developmental Disorder, Autosomal Dominant 45	Generalized non-motor (absence) seizure, Chorea, Cerebral palsy, Bilateral tonic-clonic seizure, ...	OMIM:617600
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss...	ORPHA:101
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Hypertonia, Inability to walk, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:619877
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized myoclonic seizure, Hypertonia, Limb hypertonia, Generalized-onset seizure, Bilateral ...	OMIM:615501
Aminoacylase 1 Deficiency	Seizure, Bilateral tonic-clonic seizure	OMIM:609924
Congenital Fibrinogen Deficiency	Opisthotonus	ORPHA:335
Weill-Marchesani Syndrome 4	Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ...	OMIM:613195
Myoclonic Epilepsy Of Lafora 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Apraxia, Gait disturbance...	OMIM:254780
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617468
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:620292
Intellectual Developmental Disorder, Autosomal Dominant 74	Typical absence seizure, Hypertonia, Bilateral tonic-clonic seizure	OMIM:620688
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:231736
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure	OMIM:615637
Intellectual Developmental Disorder, X-Linked 30	Clumsiness, Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:300558
Juvenile Neuronal Ceroid Lipofuscinosis	Poor fine motor coordination, Seizure, Poor motor coordination, Bilateral tonic-clonic seizure, M...	ORPHA:79264
Mitochondrial Complex I Deficiency, Nuclear Type 13	Spasticity, Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:618235
Hyperekplexia 3	Hypertonia, Bilateral tonic-clonic seizure, Exaggerated startle response, Myoclonus	OMIM:614618
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Babinski sign, Hypertonia, Generalized myoclonic seizure, Hypoglycemic seizures, Abnormality of e...	ORPHA:480864
Behavioral Variant Of Frontotemporal Dementia	Fasciculations, Abnormality of extrapyramidal motor function, Upper motor neuron dysfunction, Bil...	ORPHA:275864
Edict Syndrome	Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris	OMIM:614303
Anterior Segment Dysgenesis 5	Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac...	OMIM:604229
Fatty Acid Hydroxylase-Associated Neurodegeneration	Progressive spastic paraparesis, Focal-onset seizure, Falls, Upper motor neuron dysfunction, Bila...	ORPHA:329308
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Hyperkinetic movements, Seizure, Tremor, Gait disturbance, Bilateral tonic-clonic seizure, Upper ...	ORPHA:457240
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Gait imbalance, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Seizure,...	ORPHA:98795
Lissencephaly 9 With Complex Brainstem Malformation	Seizure, Spasticity, Infantile spasms, Bilateral tonic-clonic seizure, Involuntary movements, Myo...	OMIM:618325
Sandhoff Disease, Infantile Form	Seizure, Spasticity, Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seiz...	ORPHA:309155
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Bilateral tonic-clonic seizure	ORPHA:457205
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Cataract	ORPHA:1617
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se...	OMIM:615476
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigable weakness, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 mo...	ORPHA:42
Keppen-Lubinsky Syndrome	Hypertonia, Seizure, Spastic tetraparesis, Febrile seizure (within the age range of 3 months to 6...	OMIM:614098
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Coats Disease	Leukocoria	OMIM:300216
Pitt-Hopkins-Like Syndrome 1	Spasticity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with f...	OMIM:610042
Alfadhel Syndrome	Spastic paraplegia, Seizure, Bilateral tonic-clonic seizure	OMIM:620655
Epilepsy, Progressive Myoclonic, 10	Generalized myoclonic seizure, Progressive cerebellar ataxia, Spasticity, Seizure, Ataxia, Spasti...	OMIM:616640
Glycosylphosphatidylinositol Biosynthesis Defect 17	Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye...	OMIM:618010
D-2-Hydroxyglutaric Aciduria 1	Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:600721
Mody	Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c...	ORPHA:552
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Hemiparesis, Bilateral tonic-clonic seizure	OMIM:540000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Gait imbalance, Bilateral tonic-clonic seizure	OMIM:618120
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Coenzyme Q10 Deficiency, Primary, 3	Focal motor status epilepticus, Bilateral tonic-clonic seizure with focal onset	OMIM:614652
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Bilateral Polymicrogyria	Generalized myoclonic seizure, Focal-onset seizure, Spastic hemiparesis, Cerebellar ataxia associ...	ORPHA:268940
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Spasticity, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awar...	OMIM:619983
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Lowe...	ORPHA:395
Childhood Absence Epilepsy	Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Febrile seizu...	ORPHA:64280
Pyruvate Dehydrogenase E1-Alpha Deficiency	Inability to walk, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Ataxia	ORPHA:79243
Hydranencephaly	Seizure, Opisthotonus, Spastic diplegia	ORPHA:2177
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Inability to walk, Limb hypertonia, Seizure, Bilateral tonic-clonic seizure, Focal impaired aware...	ORPHA:488613
Dk1-Cdg	Seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure	ORPHA:91131
Keppen-Lubinsky Syndrome	Seizure, Hypertonia, Spastic tetraparesis, Opisthotonus	ORPHA:435628
New-Onset Refractory Status Epilepticus	Seizure precipitated by febrile infection, Focal aware motor seizure, Refractory status epileptic...	ORPHA:363558
Jaberi-Elahi Syndrome	Inability to walk, Broad-based gait, Appendicular spasticity, Tremor, Bilateral tonic-clonic seiz...	OMIM:617988
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Focal myoclonic seizure, Seizure, Athetosis, Cerebral palsy, Bilateral tonic-clonic seizure, Spas...	ORPHA:369929
Neu-Laxova Syndrome	Opisthotonus	ORPHA:2671
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Focal hyperkinetic seizure, Nocturnal seizures, Bilateral tonic-clonic seizure, Involuntary movem...	ORPHA:98784
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Difficulty walking, Focal myoclonic seizure, Inability to walk, Limb hypertonia, Spasticity, Seiz...	ORPHA:481152
3-Methylglutaconic Aciduria, Type Viia	Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se...	OMIM:619835
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism	ORPHA:54
Lissencephaly Due To Tuba1A Mutation	Spasticity, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure	ORPHA:171680
Developmental And Epileptic Encephalopathy 49	Facial-lingual fasciculations, Spasticity, Exaggerated startle response, Bilateral tonic-clonic s...	OMIM:617281
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Hypertonia, Seizure, Infantile spasms, Spasticity, Bilateral tonic-clonic seizure	ORPHA:544503
Sandhoff Disease	Impaired temperature sensation, Fasciculations, Spasticity, Upper motor neuron dysfunction, Exagg...	OMIM:268800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Epileptic spasm, Inability to walk, Lower limb spasticity, Tongue fasciculations, Seizure, Catapl...	OMIM:617193
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior cham...	OMIM:221900
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Limb hypertonia, Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Myoclon...	OMIM:620070
X-Linked Intellectual Disability Due To Gria3 Mutations	Babinski sign, Seizure, Spasticity, Bilateral tonic-clonic seizure, Pain insensitivity, Myoclonus...	ORPHA:364028
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Spasticity, Athetosis, Cerebral palsy, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic...	OMIM:615474
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Generalized non-motor (absence) seizure, Epileptic spasm, Hypertonia, Generalized myoclonic seizu...	ORPHA:79351
Houge-Janssens Syndrome 3	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil...	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, Bilateral tonic-clonic seizure, Intention tremor	OMIM:618381
Ritscher-Schinzel Syndrome 4	Focal-onset seizure, Chorea, Athetosis, Bilateral tonic-clonic seizure, Ataxia	OMIM:619435
Spinocerebellar Ataxia Type 29	Oculomotor apraxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, Ataxia, Dysmetria	ORPHA:208513
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis...	ORPHA:263479
Intellectual Developmental Disorder, Autosomal Dominant 42	Generalized non-motor (absence) seizure, Focal-onset seizure, Inability to walk, Limb hypertonia,...	OMIM:616973
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Generalized non-motor (absence) seizure, Babinski sign, Seizure, Bilateral tonic-clonic seizure, ...	OMIM:615398
Congenital Insensitivity To Pain With Severe Intellectual Disability	Bilateral tonic-clonic seizure, Pain insensitivity, Impaired tactile sensation	ORPHA:453510
Schinzel-Giedion Midface Retraction Syndrome	Seizure, Opisthotonus	OMIM:269150
Combined Oxidative Phosphorylation Deficiency 58	Epilepsia partialis continua, Difficulty walking, Appendicular spasticity, Exaggerated startle re...	OMIM:620451
Early Infantile Epileptic Encephalopathy	Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Spastic...	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
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Inability to walk, Limb h...	ORPHA:457351
Pelger-Huet Anomaly	Lower limb hypertonia, Seizure, Bilateral tonic-clonic seizure	OMIM:169400
Mitochondrial Trifunctional Protein Deficiency 2	Seizure, Neonatal death, Bilateral tonic-clonic seizure	OMIM:620300
Woolly Hair Nevus	Persistent pupillary membrane, Heterochromia iridis	ORPHA:79414
Developmental And Epileptic Encephalopathy 100	Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Chorea, Seizure, Infa...	OMIM:619777
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Intellectual Developmental Disorder, Autosomal Dominant 34	Bilateral tonic-clonic seizure, Broad-based gait	OMIM:616351
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Generalized non-motor (absence) seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizu...	OMIM:614207
Alternating Hemiplegia Of Childhood	Paroxysmal dyskinesia, Oculomotor apraxia, Chorea, Focal motor seizure, Tremor, Seizure, Bilatera...	ORPHA:2131
Warburg Micro Syndrome 3	Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure, Myoclonic seizure, Ankl...	OMIM:614222
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Generalized non-motor (absence) seizure, Inability to walk by childhood/adolescence, Torticollis,...	OMIM:620224
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure	OMIM:619356
Intellectual Developmental Disorder, X-Linked 98	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Lower limb spasticity, In...	OMIM:300912
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure	OMIM:619278
Norrie Disease	Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar...	OMIM:310600
Biotinidase Deficiency	Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Bilateral tonic-cl...	ORPHA:79241
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Generalized non-motor (absence) seizure, Babinski sign, Hypertonia, Seizure, Spasticity, Bilatera...	OMIM:615802
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Fasciculations, Tetraplegia, Progressive spasticity, Cataplexy, Spasticity, Bilateral tonic-cloni...	ORPHA:496641
Developmental And Epileptic Encephalopathy 95	Focal-onset seizure, Inability to walk, Seizure, Gait disturbance, Bilateral tonic-clonic seizure...	OMIM:618143
Developmental And Epileptic Encephalopathy 111	Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Convulsive status epilepti...	OMIM:620504
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Babinski sign, Limb hypertonia, Spastic tetraparesis, Bilateral tonic-clonic seizure, Clonus	ORPHA:423479
Phacoanaphylactic Uveitis	Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante...	ORPHA:209959
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Inability to walk, Seizur...	OMIM:617799
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Hypertonia, Focal-onset seizure, Generalized-onset seizure, Tonic seizure, Bilat...	OMIM:620024
3P25.3 Microdeletion Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c...	ORPHA:435638
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul...	OMIM:106210
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Retinitis Pigmentosa 97	Iris atrophy	OMIM:620422
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Chorioretinal atrophy, Microcornea, P...	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, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s...	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	Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Hyperphosphatasia-Intellectual Disability Syndrome	Oculomotor apraxia, Seizure, Gait disturbance, Bilateral tonic-clonic seizure, Ataxia, Myoclonus	ORPHA:247262
Spinocerebellar Ataxia 15	Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor	OMIM:606658
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Mitochondrial Dna-Associated Leigh Syndrome	Hypertonia, Generalized myoclonic seizure, Chorea, Spasticity, Seizure, Infantile spasms, Bilater...	ORPHA:255210
De Sanctis-Cacchione Syndrome	Babinski sign, Hypertonia, Scissor gait, Spasticity, Bilateral tonic-clonic seizure, Ataxia, Chor...	OMIM:278800
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Late-Onset Retinal Degeneration	Iris transillumination defect, Choroidal neovascularization, Chorioretinal atrophy, Iris atrophy,...	ORPHA:67042
Intellectual Developmental Disorder, Autosomal Dominant 53	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Involuntary movements, F...	OMIM:617798
Amish Lethal Microcephaly	Bilateral tonic-clonic seizure, Limb hypertonia	ORPHA:99742
Cntnap2-Related Developmental And Epileptic Encephalopathy	Focal-onset seizure, Lower limb spasticity, Seizure, Cerebral palsy, Bilateral tonic-clonic seizu...	ORPHA:163681
W Syndrome	Spasticity, Bilateral tonic-clonic seizure	ORPHA:2804
Axenfeld-Rieger Syndrome, Type 3	Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ...	OMIM:602482
Hec Syndrome	Developmental cataract, Abnormal pupil morphology	ORPHA:2119
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypertonia, Seizure, Spasticity, Bilateral tonic-clonic seizure, Ataxia, Myoclonus	OMIM:618426
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Axenfeld-Rieger Syndrome, Type 1	Polycoria, Aniridia, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior embryotoxon, Ri...	OMIM:180500
Glass Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	OMIM:612313
Congenital Muscular Dystrophy With Cerebellar Involvement	Abnormality iris morphology, Megalocornea, Cataract	ORPHA:370959
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Neuromuscular Oculoauditory Syndrome	Infantile spasms, Unsteady gait, Bilateral tonic-clonic seizure	OMIM:618733
Weaver Syndrome	Generalized non-motor (absence) seizure, Hypertonia, Spasticity, Poor fine motor coordination, Se...	OMIM:277590
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Inability to walk, Truncal ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Ato...	OMIM:620066
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Seizure, Tremor, Bilateral tonic-clonic seizure with focal onset, Unsteady gait, ...	OMIM:614947
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure	OMIM:618165
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Difficulty walking, Gait imbalance, Seizure, Gait disturbance, Bilateral tonic-clonic seizure wit...	ORPHA:488627
Juvenile Glaucoma	Abnormality iris morphology, Abnormal anterior chamber morphology	ORPHA:98977
Melas	Focal-onset seizure, Seizure, Gait disturbance, Bilateral tonic-clonic seizure, Hemiparesis, Atax...	ORPHA:550
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hypertonia, Inability to walk, Seizure, Spasticity, Ataxia, Convulsive status epilepticus	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	Hypertonia, Lower limb spasticity, Infantile spasms, Bilateral tonic-clonic seizure, Clonus, Myoc...	ORPHA:447997
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Combined Oxidative Phosphorylation Deficiency 3	Seizure, Tremor, Ataxia, Bilateral tonic-clonic seizure	OMIM:610505
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen...	ORPHA:91495
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure...	OMIM:614231
Megalocornea-Intellectual Disability Syndrome	Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ...	ORPHA:2479
Webb-Dattani Syndrome	Spasticity, Bilateral tonic-clonic seizure	OMIM:615926
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure	ORPHA:3044
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Paraplegia, Hemiparesis, Bilateral tonic-clonic seizure, Paraparesis	ORPHA:79124
Traboulsi Syndrome	Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chamber, Cataract, Spo...	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	Corneal arcus, Iris transillumination defect, Iridodonesis, Megalocornea, Hypoplasia of the iris	OMIM:249310
Mosaic Variegated Aneuploidy Syndrome 1	Seizure, Generalized myoclonic seizure, Tetraplegia, Bilateral tonic-clonic seizure	OMIM:257300
Isolated Permanent Neonatal Diabetes Mellitus	Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Apraxia	ORPHA:99885
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Generalized non-motor (absence) seizure, Epileptic spasm, Hypertonia, Focal-onset seizure, Spasti...	OMIM:620455
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Poor gross motor coordination, Seizure, Bilateral tonic-clonic seizure, Gait at...	OMIM:614756
Cocaine Intoxication	Focal-onset seizure, Seizure, Tremor, Bilateral tonic-clonic seizure, Involuntary movements, Atyp...	ORPHA:90068
Choreoacanthocytosis	Bradykinesia, Hypertonia, Hyperkinetic movements, Falls, Resting tremor, Chorea, Seizure, Blephar...	ORPHA:2388
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Bilateral tonic-clonic seizure	ORPHA:436159
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Seizure, Spasticity, Bilateral tonic-clonic seizure	OMIM:301040
Kinsship Syndrome	Generalized non-motor (absence) seizure, Focal-onset seizure, Spastic tetraparesis, Bilateral ton...	OMIM:619297
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure...	ORPHA:466943
Lujo Hemorrhagic Fever	Resting tremor, Seizure, Bilateral tonic-clonic seizure	ORPHA:319213
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Focal-onset seizure, Inability to walk, Limb hypertonia, Seizure, Spasticity, Spastic tetraparesi...	OMIM:620371
Proteus-Like Syndrome	Cataract, Limbal dermoid, Heterochromia iridis, Abnormal pupil morphology	ORPHA:2969
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypertonia, Typical absence seizure, Generalized myoclonic seizure, Broad-based gait, Seizure, Ga...	ORPHA:268261
Pseudoleprechaunism Syndrome, Patterson Type	Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:2976
Mitochondrial Complex I Deficiency, Nuclear Type 1	Babinski sign, Tongue fasciculations, Spasticity, Bilateral tonic-clonic seizure, Ataxia	OMIM:252010
X Small Rings	Seizure, Bilateral tonic-clonic seizure	ORPHA:96201
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Generalized tonic seizure...	ORPHA:369837
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure, Febrile seizure ...	ORPHA:459070
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Rieger ...	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, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Myoclonic seizure	OMIM:280000
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Hypertonia, Focal-onset seizure, Seizure, Infantile spasms, Spastic tetraparesis, Bilateral tonic...	OMIM:301044
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Broad-based gait, Seizure, Bilateral tonic-clonic seizur...	ORPHA:513456
D-Bifunctional Protein Deficiency	Seizure, Bilateral tonic-clonic seizure	OMIM:261515
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion	ORPHA:1764
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Simple febrile seizure, Bilateral tonic-clonic seizure	ORPHA:466950
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure	OMIM:619512
Duane Retraction Syndrome	Aniridia, Microcornea, Hypoplastic iris stroma, Chorioretinal coloboma, Central heterochromia, Ab...	ORPHA:233
Oliver Syndrome	Bilateral tonic-clonic seizure	ORPHA:2920
Alagille Syndrome	Keratoconus, Corneal dystrophy, Abnormal pupil morphology	ORPHA:52
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Difficulty walking, Bilateral tonic-clonic seizure, Gait ataxia	ORPHA:457359
Oculodentodigital Dysplasia	Abnormality iris morphology, Microcornea, Cataract	ORPHA:2710
Gaucher Disease	Generalized myoclonic seizure, Oculomotor apraxia, Abnormality of extrapyramidal motor function, ...	ORPHA:355
Weill-Marchesani Syndrome 2	Iridodonesis, Astigmatism, Microspherophakia, Lens luxation, Ectopia lentis, Shallow anterior cha...	OMIM:608328
Gillespie Syndrome	Aniridia, Hypoplasia of the iris	OMIM:206700
Ogden Syndrome	Hypertonia, Generalized-onset seizure, Torticollis, Bilateral tonic-clonic seizure	OMIM:300855
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Generalized non-motor (absence) seizure, Broad-based gait, Bilateral tonic-clonic seizure, Myoclo...	OMIM:620330
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Iris nevus, Chorioretinal scar, Posterior uveitis, Anterior chamber...	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	Epileptic spasm, Inability to walk, Broad-based gait, Seizure, Exaggerated startle response, Invo...	ORPHA:438213
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Generalized non-motor (absence) seizure, Seizure, Tremor, Bilateral tonic-clonic seizure	OMIM:612474
Holoprosencephaly 14	Bilateral tonic-clonic seizure	OMIM:619895
Renal Cysts And Diabetes Syndrome	Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus	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	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:79500
Hartsfield Syndrome	Bilateral tonic-clonic seizure	OMIM:615465
Norrie Disease	Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of...	ORPHA:649
Acrofrontofacionasal Dysostosis 1	Iris atrophy	OMIM:201180
Oculocerebrorenal Syndrome Of Lowe	Corneal opacity, Cataract, Buphthalmos, Chorioretinal dysplasia, Abnormal pupil morphology, Lenti...	ORPHA:534
Sotos Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera...	ORPHA:821
Osteoporosis-Pseudoglioma Syndrome	Cataract, Iris atrophy, Absent anterior chamber of the eye	OMIM:259770
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Varicocele, Epididymal cyst, Cryptorchidism	OMIM:136140
Von Hippel-Lindau Disease	Epididymal cyst, Papillary cystadenoma of the epididymis	ORPHA:892
Floating-Harbor Syndrome	Hypospadias, Precocious puberty, Varicocele, Epididymal cyst, Cryptorchidism	ORPHA:2044
Neurooculorenal Syndrome	Iris atrophy	OMIM:620305
Kabuki Syndrome 1	Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:147920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Astigmatism, Microcornea, Axenfeld anomaly, Iris atrophy, Ectopia pupillae, Cataract, Abnormal pu...	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

OPT E9.5

Immunophenotyping

Embryo LacZ

X-ray

X-ray

Gross Pathology and Tissue Collection

Immunophenotyping

Gross Morphology Embryo E9.5

Human diseases caused by Itpr1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data