banner
Genes Phenotypes Help, News, Blog

Gene: Itpr1 MGI:96623

Log in to follow

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 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 System Allele Zyg Sex Life Stage P Value
embryonic growth retardation Itpr1tm1.1(NCOM)Mfgc HOM E9.5 0.00
increased lymphocyte cell number Itpr1tm1.1(NCOM)Mfgc HET   Early adult 1.58×10-05
abnormal embryo size Itpr1tm1.1(NCOM)Mfgc HOM E9.5 0.00
preweaning lethality, complete penetrance Itpr1tm1.1(NCOM)Mfgc HOM Early adult 0.00
preweaning lethality, incomplete penetrance Itpr1tm1.1(NCOM)Mfgc HOM   Early adult 0.00
small epididymis Itpr1tm1.1(NCOM)Mfgc HET Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

No Adult expression data was found for this gene.

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

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

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

Anatomy Background staining in controls (WT)

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

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

Anatomy Background staining in controls(WT)
axial skeleton 1.72% (1 of 58)
brain 1.09% (5 of 460)
central nervous system ganglion 1.56% (1 of 64)
ear 0.22% (1 of 462)
embryo 0.22% (1 of 460)
eye 0.22% (1 of 448)
footplate 0.22% (1 of 464)
forebrain 0.22% (1 of 450)
forelimb 0.22% (1 of 453)
gut 1.92% (1 of 52)
handplate 0.22% (1 of 449)
head 1.08% (5 of 461)
heart 0.23% (1 of 443)
hindbrain 1.1% (5 of 454)
hindlimb 0.22% (1 of 464)
liver 0.22% (1 of 448)
lung 0.22% (1 of 448)
mandibular process 0.22% (1 of 463)
maxillary process 0.22% (1 of 450)
midbrain 0.22% (1 of 453)
nose 1.43% (1 of 70)
oral cavity 0.22% (1 of 455)
placenta 14.29% (5 of 35)
skeleton 1.54% (1 of 65)
skin 0.21% (1 of 469)
spinal cord 0.0%
tail 0.22% (1 of 445)
tail somite group 0.22% (1 of 457)
trachea 1.89% (1 of 53)
urinary system 1.72% (1 of 58)

Associated Images

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

Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

6 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Gross Morphology Embryo E9.5

Images

2 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
Embryo LacZ

LacZ images wholemount

20 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

6 Images

View images

Human diseases caused by Itpr1 mutations

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

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
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 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
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
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Status epilepticus ORPHA:22
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Short stature, Intrauterine growth retardation OMIM:135950
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure... OMIM:615400
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Opisthotonus, Dystonia, Choreoathetosis, Oculogyric crisis, Bradykinesia, Ataxia, Seizure, Rigidi... ORPHA:13
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Spastic ataxia, Ataxia, Seizure ORPHA:1182
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Gait ataxia, Generalized n... OMIM:617831
Dravet Syndrome
Abnormal pyramidal sign, Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Tremor OMIM:615127
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus, Spastic tetraplegia OMIM:613721
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spastic tetraparesis, Parkinsonism, Opisthotonus, Dystonia, Generalized dystonia, Choreoathetosis... OMIM:619653
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Torticollis, Bilateral tonic-clonic seizure, Hyperkinetic movements, Tremor OMIM:618425
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Stereotypical hand wringing, Bilateral tonic-clonic sei... OMIM:616056
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure, Hypertonia OMIM:269720
Epilepsy, Familial Temporal Lobe, 8
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... OMIM:616461
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Gait ataxia, Gen... OMIM:618587
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Episodic Ataxia, Type 9
Tonic seizure, Seizure, Bilateral tonic-clonic seizure, Clonic seizure, Episodic ataxia, Status e... OMIM:618924
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Ina... OMIM:607483
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Benign Familial Infantile Epilepsy
Focal motor seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal... ORPHA:306
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Tetraplegia, Bilateral tonic-clonic ... OMIM:104290
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Seizure, Hyperkinetic movements, Tremor OMIM:616921
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Myoclonic status ... OMIM:611726
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Episodic Ataxia, Type 5
Atypical absence seizure, Ataxia, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:613855
Pontocerebellar Hypoplasia, Type 2B
Extrapyramidal dyskinesia, Opisthotonus, Dystonia, Limb hypertonia, Generalized hypotonia, Clonus... OMIM:612389
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Bilateral tonic-clonic seizure, Difficulty walking, Myoclonus OMIM:619191
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Progressive extrapyramidal movement disorder, Infantile muscular hypotonia, Seizure, Myoc... OMIM:612736
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Parkinsonism, Apraxia, Bradykinesia, Seizure, Impaired tandem gait, Rigidity, Spas... OMIM:300423
Hypermanganesemia With Dystonia 2
Ankle clonus, Parkinsonism, Opisthotonus, Dystonia, Generalized dystonia, Oromandibular dystonia,... OMIM:617013
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Choreoathetosis, Paroxysmal dyskinesia, Spastic paraplegia, Paresthesia,... ORPHA:53583
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Inability to walk, Lower limb spasticity OMIM:619639
Juvenile Amyotrophic Lateral Sclerosis
Parkinsonism, Opisthotonus, Dystonia, Axial dystonia, Oromandibular dystonia, Spastic diplegia, I... ORPHA:300605
Developmental And Epileptic Encephalopathy 34
Abnormal pyramidal sign, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:616645
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Difficulty walking, Myoclonus, Tremor OMIM:613608
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Speech apra... OMIM:245570
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Atonic seizure, Bilateral tonic-clonic seizure, Generalized-onset seizure, Bradyk... ORPHA:36387
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Generalized hypotonia, Rigidity, Spasticity, Gait disturbance, Seizure, Hyperkin... OMIM:616981
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor OMIM:601068
Facial Spasm
Anisocoria OMIM:134300
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Snijders Blok-Fisher Syndrome
Opisthotonus, Choreoathetosis, Facial hypotonia, Generalized hypotonia, Spasticity, Seizure OMIM:618604
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Choreoathetosis, Focal hemiclonic seizure, Myoclonic absence se... OMIM:619317
Myoclonus, Familial, 1
Frequent falls, Falls, Ataxia, Myoclonus OMIM:614937
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Spastic paraplegia, Postural tremor, Gait di... ORPHA:100988
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Clumsiness, Bilateral tonic-clonic seizure OMIM:610003
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Somatic sensory dysfunction, Impaired proprioception, Fasciculations, Un... ORPHA:95434
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Isolated Focal Cortical Dysplasia
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:65683
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Ataxia, Focal-onset seizure, Paraparesis, Spasticity, Progr... ORPHA:726
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Combined Oxidative Phosphorylation Deficiency 27
Tetraparesis, Opisthotonus, Dystonia, Status epilepticus, Chorea, Severe muscular hypotonia, Myoc... OMIM:616672
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tonic seizure, Opisthotonus, Choreoathetosis, Inability to walk, Limb hypertonia, Ataxia, Recurre... OMIM:619580
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Generalized dystonia, Inability to walk, Gait disturbance, Spastici... ORPHA:216866
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Gen... ORPHA:2382
Myoclonic Epilepsy Of Infancy
Poor hand-eye coordination, Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, F... ORPHA:86909
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Hemiparesis, Bilateral tonic-clonic seizure, ... ORPHA:101071
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure, Pseudobulbar paralysis OMIM:300388
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Bradykinesia, Generalized myoclonic seizure, Ataxia, Rigidity, Bilater... OMIM:617836
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Paroxysmal dyskinesia, Chorea, Bilateral tonic-clonic seizure, General... ORPHA:79137
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Landau-Kleffner Syndrome
Atypical absence seizure, Frequent falls, Focal myoclonic seizure, Steppage gait, Speech apraxia,... ORPHA:98818
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Dysmetria, Atonic seizure, Apraxia, Inability to walk, Gait ataxia, Spasticity... OMIM:617810
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Tonic seizure, Stereotypical hand wringing, Inability to walk, Focal-onset seizure, Febrile seizu... OMIM:618917
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Unsteady gait, Gait ataxia, Rigidity, Bilateral tonic-clonic seizure, Falls OMIM:203740
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
Developmental And Epileptic Encephalopathy 84
Opisthotonus, Dystonia, Generalized hypotonia, Spasticity, Chorea, Epileptic spasm, Babinski sign... OMIM:618792
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal-onset seizure, Focal aware seizure, Paresthesia, Focal impaired awareness sei... ORPHA:98820
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Ataxia, Generalized myoclonic-atonic seizure, Spasticity, Bilateral tonic-clon... OMIM:619701
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Glutaric Acidemia I
Opisthotonus, Dystonia, Choreoathetosis, Generalized hypotonia, Rigidity, Hypotonia, Seizure, Spa... OMIM:231670
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... ORPHA:101039
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Focal impaired aw... ORPHA:330050
Spastic Ataxia 5, Autosomal Recessive
Dysmetria, Spastic paraparesis, Generalized myoclonic seizure, Ataxia, Spasticity, Dysdiadochokin... OMIM:614487
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Choreoathetosis, Inability to walk, Hypotonia, Seizure, Hyperkinetic movements, Myoclonus OMIM:618497
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (ab... OMIM:619157
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Chin myoclonus, Focal myoclonic seizure, Febrile seizure (withi... ORPHA:263516
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure, Speech apraxia ORPHA:163721
Adenylosuccinase Deficiency
Opisthotonus, Inability to walk, Gait ataxia, Generalized hypotonia, Spasticity, Hypotonia, Seizu... OMIM:103050
Epilepsy, Progressive Myoclonic 7
Seizure, Ataxia, Myoclonus, Tremor OMIM:616187
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Spinocerebellar Ataxia 48
Dysmetria, Parkinsonism, Ataxia, Gait ataxia, Chorea, Bilateral tonic-clonic seizure, Babinski si... OMIM:618093
D-Glyceric Aciduria
Opisthotonus, Spastic tetraplegia, Neonatal hypotonia, Seizure, Myoclonus OMIM:220120
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Myoclonus, Spastic diplegia OMIM:619065
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Generalized myoclonic seizure, Athetosis, Ataxia, Progressive extrapyramidal move... ORPHA:382
Lissencephaly 10
Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-onset sei... OMIM:618873
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... OMIM:615697
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Acid Phosphatase Deficiency
Generalized hypotonia, Opisthotonus, Hypotonia OMIM:200950
X-Linked Intellectual Disability, Hedera Type
Action tremor, Frequent falls, Dysmetria, Atonic seizure, Apraxia, Extrapyramidal muscular rigidi... ORPHA:93952
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Seizure, Pseudobulb... ORPHA:208441
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Aniridia 2
Cataract, Aniridia OMIM:617141
Pontocerebellar Hypoplasia, Type 2E
Tonic seizure, Opisthotonus, Spastic tetraplegia, Neonatal hypotonia, Spasticity, Bilateral tonic... OMIM:615851
Alg11-Cdg
Opisthotonus, Limb hypertonia, Ataxia, Axial hypotonia, Infantile muscular hypotonia, Seizure, Hy... ORPHA:280071
Rare Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Spasticity, Seizure, Difficulty walking ORPHA:101685
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Congenital Disorder Of Glycosylation, Type Ip
Neonatal hypotonia, Opisthotonus, Seizure OMIM:613661
Lissencephaly Due To Lis1 Mutation
Atypical absence seizure, Opisthotonus, Atonic seizure, Generalized myoclonic seizure, Axial hypo... ORPHA:95232
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myo... OMIM:614018
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Generalized myoclonic seizure, Ataxia, Focal-onset seizure, Bilateral tonic-clonic... ORPHA:352582
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Seizure precipitated by febrile infection, Status epilepticus wit... ORPHA:363549
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-clonic seiz... OMIM:619605
Pontocerebellar Hypoplasia, Type 14
Spastic tetraplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Infa... OMIM:619301
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Choreoathetosis, Myoclonus OMIM:609056
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Oculogyric crisis, Inability to walk, Spasticity, Chorea, Severe muscular hypotonia, Se... OMIM:614254
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Opisthotonus, Choreoathetosis, Spasticity, Progressive extrapyramidal mo... ORPHA:445038
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Atonic seizure, Focal motor seizure, Motor stereotypy, Generalized-onset seizur... ORPHA:178469
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Focal impaired aw... OMIM:619606
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Atonic seizure, Inability to walk, Generalized myoclonic seizur... ORPHA:2590
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Spasticity, Spastic hemiparesis, Gen... OMIM:619616
Chiari Malformation Type Ii
Generalized hypotonia, Opisthotonus, Ataxia, Hypotonia OMIM:207950
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Spastic tetraplegia, Motor stereotypy, Paroxysmal dyskinesia, G... ORPHA:208447
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysmetria, Spastic dysarthria, Spastic paraparesis, Generalized myoclonic seizure, Ataxia, Spasti... ORPHA:313772
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Spastic paraparesis, Focal motor seizure, Bilateral tonic-clonic seizure... OMIM:619338
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Pontocerebellar Hypoplasia, Type 15
Spastic tetraplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Infa... OMIM:619302
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Stereotypical hand wringing, Inability to walk, Focal-onset seizur... OMIM:618760
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Seizure, Gait ataxia, Spasticity, Oculomotor apraxia, Bilateral tonic-clonic seizure, ... ORPHA:529665
Cataract 21, Multiple Types
Microcornea, Iris coloboma, Cortical pulverulent cataract, Cerulean cataract OMIM:610202
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Arnold-Chiari Malformation Type Ii
Somatic sensory dysfunction, Opisthotonus, Ataxia, Seizure, Paraparesis, Spasticity, Paraplegia, ... ORPHA:1136
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Rigidity, Chorea, Tortic... ORPHA:98810
Severe Canavan Disease
Inability to walk, Spasticity, Decerebrate rigidity, Bilateral tonic-clonic seizure, Babinski sig... ORPHA:314911
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity, Chorea, ... OMIM:619725
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Canavan Disease
Opisthotonus, Generalized-onset seizure, Hypotonia OMIM:271900
Pontocerebellar Hypoplasia, Type 2A
Extrapyramidal dyskinesia, Opisthotonus, Seizure OMIM:277470
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Hyperlysinemia
Spastic tetraparesis, Dysmetria, Opisthotonus, Spastic diplegia, Poor motor coordination, Infanti... ORPHA:2203
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (abs... OMIM:271980
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Hemiplegia, Focal-onset seizure, Spastic tetraplegia OMIM:614483
Infantile Krabbe Disease
Opisthotonus, Hyperesthesia, Spastic diplegia, Generalized myoclonic seizure, Lower limb spastici... ORPHA:206436
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:607745
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Dysmetria, Intention tremor, Ataxia, Tongue fasciculations, Generalized non-motor (absence) seizu... OMIM:618170
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Generalized myoclonic seizure, Lower limb spasticity, Ataxia, Sei... ORPHA:464282
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Opisthotonus, Hypertonia OMIM:616896
Mitochondrial Complex I Deficiency, Nuclear Type 37
Opisthotonus, Tetraplegia, Hypotonia, Seizure, Status epilepticus, Hypertonia OMIM:619272
Foxg1 Syndrome
Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, Inability to walk, Status epilept... ORPHA:561854
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Babinski sign, Spasticity, Focal-onset sei... OMIM:618770
Developmental And Epileptic Encephalopathy 4
Spastic tetraplegia, Generalized myoclonic seizure, Spastic paraplegia, Generalized tonic seizure... OMIM:612164
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Unsteady gait, Progressive cerebellar ataxia, Chorea, Generalized non-moto... ORPHA:485350
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent pancreatitis, Increased g... OMIM:619290
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Bilateral tonic-clonic seizure wi... OMIM:619028
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Focal-onset seizure, Febrile seizure (within the age range of 3 mont... ORPHA:289266
Anisocoria
Anisocoria OMIM:106240
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618856
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Bilateral tonic-clonic seizure with generalized onset, Spasticity, Migrating focal... OMIM:618559
Lesch-Nyhan Syndrome
Opisthotonus, Dystonia, Choreoathetosis, Generalized hypotonia, Spasticity, Hypotonia, Abnormalit... OMIM:300322
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Corticobasal Syndrome
Parkinsonism, Dystonia, Somatic sensory dysfunction, Involuntary movements, Bradykinesia, Limb ap... ORPHA:454887
Sarcosinemia
Tetraparesis, Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Bilateral tonic-clonic seizure with generalized onset, Seizure, Spastic tetraplegia, Hypertonia OMIM:618730
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Generalized hypotonia, Opisthotonus, Seizure, Hypotonia OMIM:210200
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Bilateral tonic-clonic seizure, Gait imbalance, Seizure ORPHA:488635
Tetanus
Opisthotonus, Spasticity of pharyngeal muscles, Tremor, Rigidity, Hypertonia ORPHA:3299
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Spasticity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hyp... OMIM:616281
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Difficulty walking, Truncal ataxia, Waddling gait, Bilateral tonic-clonic seizure ORPHA:369840
Stiff-Person Syndrome
Frequent falls, Opisthotonus, Myoclonic spasms, Rigidity, Exaggerated startle response OMIM:184850
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Dystonia, Resting tremor, Short stepped shuffling gait, Shuffling gait, ... ORPHA:391411
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia OMIM:250800
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Limb hypertonia, Focal-onset seizure, Focal impaired awareness se... OMIM:301058
Japanese Encephalitis
Hypertonia, Paralysis, Opisthotonus, Dystonia, Choreoathetosis, Pill-rolling tremor, Status epile... ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 4
Neonatal hypotonia, Spasticity, Opisthotonus OMIM:610678
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Rasmussen Subacute Encephalitis
Focal sensory seizure with somatosensory features, Involuntary movements, Inability to walk, Bila... ORPHA:1929
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Tremor OMIM:607876
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Hemiparesis, Simple febrile seizure, Focal impai... ORPHA:268947
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure, Ataxia, Tremor OMIM:616421
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Abnormal pyramidal sign, Somatic sensory dysfunction, Rigidity, Spasticity, Hemiparesis, Gait dis... ORPHA:199354
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Atonic seizure, Motor stereotypy, Inability to walk, Generalized myoclonic se... ORPHA:168491
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Clonic seizure, Sei... OMIM:610539
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Gait disturbance, Bilateral ton... ORPHA:275864
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Frequent falls, Spastic tetraplegia, Inability to walk, Generalized myoclonic seizure, Ataxia, Un... ORPHA:1947
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:250972
Sulfite Oxidase Deficiency, Isolated
Choreoathetosis, Ataxia, Hemiplegia, Bilateral tonic-clonic seizure, Hypertonia OMIM:272300
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Bilateral tonic-clonic seizure with focal onset, Seizure precipitated ... ORPHA:363558
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Nmda Receptor Encephalitis
Opisthotonus, Dystonia, Choreoathetosis, Motor stereotypy, Oculogyric crisis, Generalized-onset s... ORPHA:217253
Lafora Disease
Atypical absence seizure, Atonic seizure, Inability to walk, Bilateral tonic-clonic seizure with ... ORPHA:501
Molybdenum Cofactor Deficiency, Complementation Group B
Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Seizure, Hypertonia OMIM:252160
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Head tremor, Bilateral tonic-clonic seizure with focal o... OMIM:619428
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Involuntary movements, Athetosis, Generalized hypotonia, Spasticity, Chorea, Seizure, H... OMIM:617493
Crisponi/Cold-Induced Sweating Syndrome 1
Opisthotonus, Seizure OMIM:272430
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Generalized tonic seizure, Opisthotonus OMIM:619685
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Opisthotonus, Generalized-onset seizure, Motor stereotypy, Inability to walk, Focal myoclonic sei... ORPHA:508533
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Generalized hypotonia, Opisthotonus, Seizure, Hypotonia OMIM:210210
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Fasciculations, Lower limb spasticity,... OMIM:618598
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Clumsiness, Generalized non-motor (absence) seizure, Seizure OMIM:300558
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Generalized myoclonic seizure, Limb hypertonia, Neonatal death, Bilate... OMIM:615501
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism, Myoclonic spasms, Motor stereotypy, Loss of ability to walk, Poor motor coordinatio... ORPHA:79264
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Bilateral Frontoparietal Polymicrogyria
Abnormal pyramidal sign, Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, ... ORPHA:101070
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Abnormal muscle tone, ... OMIM:252150
Myoclonic Epilepsy Of Lafora
Apraxia, Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Focal se... OMIM:254780
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Focal dystonia, Shuffling gait, Bl... ORPHA:53351
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Tremor, Ataxia, Focal-onset seizure, Gait ataxia, Bilateral tonic-clo... OMIM:619092
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Gaucher Disease, Perinatal Lethal
Opisthotonus, Akinesia, Seizure OMIM:608013
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Athetosis, Ataxia, Focal-onset seizure OMIM:614559
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Tongue thrusting, Bilateral tonic-clonic seizure with generalized onset... ORPHA:98795
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Opisthotonus, Hypertonia ORPHA:3304
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Gait disturbance, Bilateral tonic-clonic seizure, Upper limb spasticity, Seizur... ORPHA:457240
Jeavons Syndrome
Atonic seizure, Focal seizure with eyelid myoclonia, Visually-induced seizure, Generalized myoclo... ORPHA:139431
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Inability to walk ORPHA:457205
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraplegia, Loss of ability to walk, Focal-onset seizure, Upper motor neuron ... ORPHA:329308
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Hypoglycemic seizures, Multifocal seizures, Involuntary movements, Generalized my... ORPHA:480864
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Gait ataxia, Impaired tandem gait, Nonprogressive cerebellar ataxia,... OMIM:117360
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Impaired proprioception, Blepharospasm, Involuntary mo... ORPHA:101
Congenital Fibrinogen Deficiency
Opisthotonus ORPHA:335
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Limb hypertonia, Rigidity, Severe muscular hypotonia, Seizure, Hyperki... OMIM:233910
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Ataxia, Febrile seizure (within the age range of 3 months to ... ORPHA:42
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure, Hemiparesis OMIM:540000
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Impaired tactile sensation, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized ... OMIM:619091
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Microcornea ORPHA:231736
Bilateral Polymicrogyria
Cerebellar ataxia associated with quadrupedal gait, Abnormal pyramidal sign, Spastic tetraparesis... ORPHA:268940
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Spastic paraparesis, Generalized myoclonic seizure, Lower limb spasticity, Ataxia, Focal-onset se... ORPHA:395
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Inability to walk, Limb hypertonia, Focal impaired awareness seizure, Seizure, Bilateral tonic-cl... ORPHA:488613
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mo... ORPHA:64280
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Spastic paraplegia, Athetosis, Cerebral palsy, Focal myoclonic seizure, Focal impaired awareness ... ORPHA:369929
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Dk1-Cdg
Bilateral tonic-clonic seizure, Seizure, Infantile spasms, Focal-onset seizure ORPHA:91131
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Ataxia, Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:79243
Coats Disease
Leukocoria OMIM:300216
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Involuntary movements, Focal hyperkinetic seizure, Nocturnal seizures, Bilatera... ORPHA:98784
Epilepsy, Progressive Myoclonic, 10
Spastic tetraplegia, Generalized myoclonic seizure, Ataxia, Seizure, Progressive cerebellar ataxi... OMIM:616640
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Bilateral tonic-clonic seizure, Seizure, Infantile spasms, Hypertonia ORPHA:544503
Hydranencephaly
Opisthotonus, Seizure, Spastic diplegia ORPHA:2177
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Babinski sign, Seizure, Generalized non-motor (absence) seizure ORPHA:777
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cataplexy, Lower limb spasticity, Ataxia, Inability to walk, Tongue fasciculations, Generalized t... OMIM:617193
Neu-Laxova Syndrome
Opisthotonus ORPHA:2671
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Broad-based gait OMIM:616351
Angelman Syndrome
Atypical absence seizure, Atonic seizure, Inability to walk, Status epilepticus, Ataxia, Generali... ORPHA:72
Sandhoff Disease
Fasciculations, Ataxia, Impaired temperature sensation, Upper motor neuron dysfunction, Spasticit... OMIM:268800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Intellectual Developmental Disorder, X-Linked 98
Tonic seizure, Atonic seizure, Stereotypical hand wringing, Generalized myoclonic seizure, Lower ... OMIM:300912
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Spasticity, Bilateral tonic-clonic seizure, Pain insensitivity, Babinski sign... ORPHA:364028
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Inability to walk, Limb hypertonia, Ataxia, Seizure, Focal myoclonic seizure, Spasticity, Bilater... ORPHA:481152
Myoclonic-Astatic Epilepsy
Abnormal pyramidal sign, Atonic seizure, Generalized myoclonic seizure, Ataxia, Focal-onset seizu... ORPHA:1942
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Atonic seizure, Spastic tetraplegia, Generalized myoclonic seizure, Athetosis, Focal emotional se... ORPHA:79351
Mody
Exocrine pancreatic insufficiency, Glycosuria, Neonatal hypoglycemia, Pancreatic hypoplasia, Hype... ORPHA:552
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure, Pain insensitivity, Impaired tactile sensation ORPHA:453510
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Lower limb hypertonia, Seizure OMIM:169400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Athetosis, Spastic tetraplegia OMIM:615474
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure, Hypertonia ORPHA:79350
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Inability to walk, Limb hypertonia, Generalized myoclonic seizure, Spasticity, ... ORPHA:457351
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure, Limb hypertonia ORPHA:99742
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Early Infantile Epileptic Encephalopathy
Choreoathetosis, Atonic seizure, Generalized clonic seizure, Focal-onset seizure, Seizure, Febril... ORPHA:1934
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... OMIM:308240
Keppen-Lubinsky Syndrome
Spastic tetraparesis, Opisthotonus, Seizure, Hypertonia ORPHA:435628
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
3P25.3 Microdeletion Syndrome
Motor stereotypy, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Generali... ORPHA:435638
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Fasciculations, Cataplexy, Ataxia, Febrile seizure (within the age range of 3 m... ORPHA:496641
Alternating Hemiplegia Of Childhood
Tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Paroxysmal dyskinesia, Episodic hemiplegi... ORPHA:2131
Schinzel-Giedion Midface Retraction Syndrome
Opisthotonus, Seizure OMIM:269150
Biotinidase Deficiency
Spastic paraparesis, Generalized myoclonic seizure, Ataxia, Focal motor seizure, Bilateral tonic-... ORPHA:79241
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Bilateral tonic-clonic seizure, Spastic tetraparesis OMIM:608809
Developmental And Epileptic Encephalopathy 95
Inability to walk, Focal-onset seizure, Ataxia, Gait disturbance, Bilateral tonic-clonic seizure,... OMIM:618143
Ritscher-Schinzel Syndrome 4
Athetosis, Ataxia, Focal-onset seizure, Chorea, Bilateral tonic-clonic seizure OMIM:619435
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Spastic tetraparesis, Limb hypertonia, Clonus, Bilateral tonic-clonic seizure, Babinski sign ORPHA:423479
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Spinocerebellar Ataxia Type 29
Dysmetria, Intention tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia ORPHA:208513
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms, Poor coordination ORPHA:478029
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Gait disturbance, Oculomotor apraxia, Seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:247262
De Sanctis-Cacchione Syndrome
Choreoathetosis, Ataxia, Spasticity, Scissor gait, Bilateral tonic-clonic seizure, Babinski sign,... OMIM:278800
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Ataxia, Gait ataxia, Spasticity, Chorea, Bilateral tonic-clonic se... ORPHA:255210
Immunodeficiency 92
Leukocytosis, Thrombocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B ... OMIM:619652
Cntnap2-Related Developmental And Epileptic Encephalopathy
Stereotypical hand wringing, Bilateral tonic-clonic seizure with focal onset, Lower limb spastici... ORPHA:163681
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
W Syndrome
Bilateral tonic-clonic seizure, Spasticity ORPHA:2804
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Anemia, Acute monocytic leukemia, Lymphocytosis ORPHA:514
Rhizomelic Chondrodysplasia Punctata, Type 5
Convulsive status epilepticus, Seizure, Broad-based gait OMIM:616716
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, Acute myelomonocytic leukemia ORPHA:86843
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Spasticity, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Babinski sig... OMIM:615802
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Hypopyon, Abnormal corneal endothelium morphology, Posterior uveiti... ORPHA:209959
Nivelon-Nivelon-Mabille Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:600092
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Microcoria OMIM:263100
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior em... OMIM:612109
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Chorioretinal hypopigmentation, ... OMIM:106210
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Melas
Ataxia, Focal-onset seizure, Hemiparesis, Gait disturbance, Abnormal central motor function, Bila... ORPHA:550
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Unsteady gait OMIM:618733
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... ORPHA:67042
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Gait disturbance, Gait imbalance, Diffi... ORPHA:488627
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Motor stereotypy, Lower limb spasticity, Clonus, Bilateral tonic-clonic seizure... ORPHA:447997
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:3044
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Bilateral tonic-clonic seizure, Paraplegia, Hemiparesis ORPHA:79124
Axenfeld-Rieger Syndrome, Type 3