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Gene: Itpr1 MGI:96623

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Gene Summary

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

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
preweaning lethality, complete penetrance Itpr1tm1.1(NCOM)Mfgc HOM Early adult 0.00
abnormal embryo size Itpr1tm1.1(NCOM)Mfgc HOM E9.5 0.00
preweaning lethality, incomplete penetrance Itpr1tm1.1(NCOM)Mfgc HOM   Early adult 0.00
embryonic growth retardation Itpr1tm1.1(NCOM)Mfgc HOM E9.5 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
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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
N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 100% (4 of 4)
N/A homozygote 100% (1 of 1)
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 4)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
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 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
placenta 16.67% (7 of 42)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
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.

X-ray

XRay Images Skull Lateral Orientation

10 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 Dorso Ventral 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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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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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
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Dysmetria, Intention tremor ORPHA:208513
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Gillespie Syndrome
Hypoplasia of the iris, Aniridia 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
Maturity-onset diabetes of the young, Maternal diabetes 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
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I 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
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hyperkineti... ORPHA:13
Spastic Ataxia With Congenital Miosis
Seizure, Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Tortico... OMIM:618425
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Abnormal pyramidal sign, Bi... OMIM:607208
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:613721
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Tetraplegia... OMIM:104290
Episodic Ataxia, Type 9
Dystonia, Episodic ataxia, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilep... OMIM:618924
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Muscular hypotonia of the trunk, Seizure, ... OMIM:616921
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Dysmetria, Attention defic... OMIM:619191
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Generalized hypotonia, Hypotonia, Chorea, Muscular hypotonia of the trunk, Seizure, Opi... OMIM:612389
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizure with eyelid myoclonia, Chore... OMIM:618587
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Gait ataxia, Lethargy, Cogwheel rigidity, Chorea, Hypertonia, Abnorm... OMIM:607483
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Dystonia, Episodic ataxia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Hypertonia, Bilateral... ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Continuous Spikes And Waves During Sleep
Dystonia, Clumsiness, Speech apraxia, Atonic seizure, Focal-onset seizure, Hyperkinetic movements... ORPHA:725
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Seizure, Myoclonus, Infantile m... OMIM:612736
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, Seizure, Status epilepticus, Attention deficit hyperactivity disorder,... OMIM:617665
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic sta... OMIM:611726
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Falls, F... ORPHA:139426
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Developmental And Epileptic Encephalopathy 37
Generalized hypotonia, Rigidity, Gait disturbance, Hyperkinetic movements, Seizure, Myoclonus, Ch... OMIM:616981
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Developmental And Epileptic Encephalopathy 34
Inability to walk, Focal-onset seizure, Abnormal pyramidal sign, Focal hemiclonic seizure, Seizur... OMIM:616645
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, Atonic sei... ORPHA:36387
Combined Oxidative Phosphorylation Deficiency 27
Dystonia, Chorea, Tetraparesis, Status epilepticus, Opisthotonus, Myoclonus, Severe muscular hypo... OMIM:616672
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:208700
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Developmental And Epileptic Encephalopathy 30
Seizure, Stereotypy, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... ORPHA:86909
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Difficulty walking, Chorea, Hypertonia, Upper limb s... ORPHA:300605
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia... OMIM:617836
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:95434
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bilateral tonic-clonic seizure, Bradykinesia, Action tremor, Parkinson... OMIM:300423
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, F... ORPHA:2382
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Focal-onset seizure, Chorea, Hyperkinetic movements, Myoclonic absen... OMIM:619317
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, Bilateral tonic-clonic seizure OMIM:609446
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Bilateral to... ORPHA:100988
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... ORPHA:101046
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Gait disturbance, Toe walking, Seizure, Opisthotonus, Generalized dystonia, Fr... ORPHA:216866
Landau-Kleffner Syndrome
Generalized clonic seizure, Gait ataxia, Speech apraxia, Non-convulsive status epilepticus withou... ORPHA:98818
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Snijders Blok-Fisher Syndrome
Generalized hypotonia, Facial hypotonia, Seizure, Opisthotonus, Choreoathetosis, Spasticity OMIM:618604
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Focal-onset seizure, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, My... ORPHA:726
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Facial Spasm
Anisocoria OMIM:134300
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (ab... OMIM:619157
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Developmental And Epileptic Encephalopathy 84
Dystonia, Generalized hypotonia, Chorea, Muscular hypotonia of the trunk, Seizure, Opisthotonus, ... OMIM:618792
Isolated Focal Cortical Dysplasia
Focal-onset seizure, Hemiparesis, Seizure, Infantile spasms, Focal impaired awareness seizure, Bi... ORPHA:65683
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Dystonia, Gait ... OMIM:618917
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
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Myoclonus, Bilateral tonic-clonic seizure OMIM:254800
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:79137
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:266100
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Unilateral Hemispheric Polymicrogyria
Focal-onset seizure, Hemiparesis, Bilateral tonic-clonic seizure, Focal atonic seizure, Infantile... ORPHA:101071
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Babinski sign OMIM:619065
Glutaric Acidemia I
Dystonia, Generalized hypotonia, Rigidity, Spastic diplegia, Seizure, Opisthotonus, Choreoathetos... OMIM:231670
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clo... ORPHA:330050
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Bilateral ... OMIM:614487
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Spinocerebellar Ataxia 48
Dystonia, Tremor, Gait ataxia, Chorea, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Dysm... OMIM:618093
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Epilepsy, Progressive Myoclonic 7
Seizure, Tremor, Myoclonus, Ataxia OMIM:616187
Familial Focal Epilepsy With Variable Foci
Paresthesia, Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile se... ORPHA:98820
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Hyperkinetic movements, Seizure, Myoclonus, Choreoathetosis, Hypotonia OMIM:618497
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Generalized hypotonia, Hypotonia, Seizure, Opisthotonus, Myoclonu... OMIM:103050
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Apraxia, Ataxia ORPHA:85338
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Dentatorubral-Pallidoluysian Atrophy
Chorea, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Choreoathetosis OMIM:125370
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Seizure, Myoclonus, Spasticity OMIM:617829
Rare Non-Syndromic Intellectual Disability
Dystonia, Difficulty walking, Bilateral tonic-clonic seizure, Seizure, Spasticity ORPHA:101685
D-Glyceric Aciduria
Neonatal hypotonia, Muscular hypotonia of the trunk, Seizure, Opisthotonus, Spastic tetraplegia, ... OMIM:220120
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive myoclonic seizure, ... ORPHA:263516
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Rigidity, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Involunta... ORPHA:98810
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Seizure, Parkinsonism, Myoclonus OMIM:162350
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Speech apraxia ORPHA:163721
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Seizure, Status epilepticus, Tetraplegia, Ch... OMIM:614820
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Spasticity OMIM:616281
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seiz... OMIM:614018
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... OMIM:615697
Epilepsy, Progressive Myoclonic, 11
Ataxia, Seizure, Myoclonus, Intention tremor, Rigidity OMIM:618876
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Atonic seizure, Slurred speech, Gai... ORPHA:93952
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Mental Retardation, Autosomal Recessive 6
Dystonia, Tremor, Seizure, Myoclonus, Involuntary movements OMIM:611092
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Acid Phosphatase Deficiency
Opisthotonus, Generalized hypotonia, Hypotonia OMIM:200950
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Pontocerebellar Hypoplasia, Type 14
Dystonia, Focal-onset seizure, Hypertonia, Bilateral tonic-clonic seizure, Myoclonic seizure, Spa... OMIM:619301
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Aniridia 2
Cataract, Aniridia OMIM:617141
Autosomal Dominant Non-Syndromic Intellectual Disability
Generalized tonic seizure, Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyeli... ORPHA:178469
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure... ORPHA:208441
Familial Infantile Myoclonic Epilepsy
Clumsiness, Focal-onset seizure, Gait disturbance, Blepharospasm, Bilateral tonic-clonic seizure,... ORPHA:352582
Pontocerebellar Hypoplasia, Type 2E
Neonatal hypotonia, Hypertonia, Opisthotonus, Bilateral tonic-clonic seizure with generalized ons... OMIM:615851
Lissencephaly Due To Lis1 Mutation
Generalized tonic seizure, Atypical absence seizure, Atonic seizure, Neonatal hypotonia, Progress... ORPHA:95232
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Congenital Disorder Of Glycosylation, Type Ip
Seizure, Neonatal hypotonia, Opisthotonus OMIM:613661
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Seizure, Myoclonus, Babinski sign,... OMIM:606777
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Bilateral Generalized Polymicrogyria
Generalized tonic seizure, Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyeli... ORPHA:208447
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Alg11-Cdg
Hypertonia, Muscular hypotonia of the trunk, Ataxia, Seizure, Opisthotonus, Limb hypertonia, Infa... ORPHA:280071
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic dysarthria, Oculomotor apraxia, Bilate... ORPHA:313772
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Seizure, Oculogyric crisis, Myoclonu... OMIM:614254
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Generalized hypotonia, Seizure, Opisthotonus, Hypotonia OMIM:210200
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Seizure, Myoclonus, Hyperactivit... OMIM:615924
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Choreoathetosis, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Severe Canavan Disease
Inability to walk, Lethargy, Bilateral tonic-clonic seizure, Seizure, Babinski sign, Decerebrate ... ORPHA:314911
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus, Generalized n... OMIM:271980
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Pontocerebellar Hypoplasia, Type 15
Dystonia, Focal-onset seizure, Hypertonia, Bilateral tonic-clonic seizure, Myoclonic seizure, Spa... OMIM:619302
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
3-Methylglutaconic Aciduria Type 7
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Hypot... ORPHA:445038
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Convulsive status epilepticus, Focal-onset seizure, Chorea, Stereoty... OMIM:618760
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
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Hyperlysinemia
Tremor, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic diplegia, Neck hyperto... ORPHA:2203
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Seiz... ORPHA:2590
Chiari Malformation Type Ii
Opisthotonus, Generalized hypotonia, Ataxia, Hypotonia OMIM:207950
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized hypotonia, Hypertonia, Muscular hypotonia of the trunk, Bilateral tonic-clonic seizur... OMIM:615501
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Seizure, Generali... ORPHA:98811
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Bilateral tonic-clonic seizure, Stat... ORPHA:529665
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Difficulty walking, Spasticity, Bilateral tonic-clonic seizure, Ataxia, Seizure, Focal ... ORPHA:464282
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Generalized hypotonia, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Hypotonia OMIM:612016
Lesch-Nyhan Syndrome
Dystonia, Generalized hypotonia, Hypotonia, Abnormality of extrapyramidal motor function, Opistho... OMIM:300322
Canavan Disease
Opisthotonus, Generalized-onset seizure, Hypotonia OMIM:271900
Pontocerebellar Hypoplasia, Type 2A
Seizure, Opisthotonus, Extrapyramidal dyskinesia OMIM:277470
Arnold-Chiari Malformation Type Ii
Hypotonia, Difficulty walking, Paraparesis, Ataxia, Seizure, Somatic sensory dysfunction, Opistho... ORPHA:1136
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract OMIM:610202
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Early onset absence seizures... ORPHA:3006
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Focal-onset seizure, Hyperkinetic movements, Bil... ORPHA:561854
Brain Small Vessel Disease 2
Hemiplegia, Focal-onset seizure, Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:614483
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Opisthotonus, Hypertonia, Muscular hypotonia of the trunk OMIM:616896
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Generalized hypotonia, Limb ataxia, Somatic sensory dysfunction, Progressive... ORPHA:98763
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Bilateral tonic-clonic seizure, Focal tonic seizure, Generalized n... ORPHA:485350
Infantile Krabbe Disease
Spastic diplegia, Spasticity, Ankle clonus, Infantile axial hypotonia, Seizure, Opisthotonus, Low... ORPHA:206436
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Focal hemifacial clonic seizure, Focal-onset seizure, Writer's cramp... OMIM:608105
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Seizures, Benign Familial Infantile, 3
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Generalized tonic seizure, Tremor, Bilateral tonic-clonic seizure, Status epi... OMIM:612164
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Foc... OMIM:619338
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Mitochondrial Complex I Deficiency, Nuclear Type 37
Hypertonia, Status epilepticus, Seizure, Opisthotonus, Tetraplegia, Hypotonia OMIM:619272
Spastic Paraplegia 82, Autosomal Recessive
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Babinski sign, Spasti... OMIM:618770
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Imp... OMIM:619028
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Hyperkinetic movements, Muscular hypotonia of the trunk, Status epil... OMIM:618285
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, 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
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:619000
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Rasmussen Subacute Encephalitis
Inability to walk, Generalized tonic seizure, Involuntary movements, Hemidystonia, Focal-onset se... ORPHA:1929
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:289266
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Sarcosinemia
Ataxia, Tetraparesis, Bilateral tonic-clonic seizure ORPHA:3129
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Seizure, Bilateral tonic-clonic seizure with generalized onset, Hypertonia, Spastic tetraplegia OMIM:618730
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Difficulty walking, Chorea, Bilateral tonic-clonic seizure, Waddling gait ORPHA:369840
Developmental And Epileptic Encephalopathy 79
Spasticity, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with generalized onset, M... OMIM:618559
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Gait ataxia, Gait imbalance, Bilateral tonic-clonic seizure ORPHA:488635
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, P... ORPHA:1945
Unilateral Focal Polymicrogyria
Spastic hemiparesis, Poor fine motor coordination, Hemiparesis, Simple febrile seizure, Seizure, ... ORPHA:268947
Anisocoria
Anisocoria OMIM:106240
Tetanus
Tremor, Hypertonia, Spasticity of pharyngeal muscles, Opisthotonus, Rigidity ORPHA:3299
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor fun... ORPHA:79139
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Myoc... ORPHA:248111
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Frequent falls, Myoclonic spasms, Rigidity OMIM:184850
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Generalized hypotonia, Seizure, Opisthotonus, Hypotonia OMIM:210210
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia OMIM:250800
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Ankle clonus, Bilateral tonic-clonic seizure, Limb hypertonia, Focal impaire... OMIM:301058
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy, Tremor, Rigidity, Hyperkinetic movements, Seizure, Limb hypertonia, Severe mu... OMIM:233910
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:607876
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Atonic seizure, Focal-onset seizure, Gait disturbance, Spa... ORPHA:168491
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, Gait ataxia, Clumsiness, Bilateral tonic-clonic seizure, Ataxia, Seizure, Unst... ORPHA:1947
Combined Oxidative Phosphorylation Deficiency 4
Neonatal hypotonia, Opisthotonus, Spasticity OMIM:610678
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Baker-Gordon Syndrome
Inability to walk, Dystonia, Neonatal hypotonia, Hyperkinetic movements, Ataxia, Stereotypy, Invo... OMIM:618218
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Gait disturbance, Bilateral tonic-clonic seizure, S... ORPHA:275864
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Muscul... OMIM:613135
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Muscular hypotonia of the trunk, Limb hyper... ORPHA:324588
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Generalized hypotonia, Chorea, Hyperkinetic movements, Seizure, Involuntary movements, ... OMIM:617493
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:610947
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Muscular hypotonia of the trunk, Ataxi... OMIM:618598
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... ORPHA:363558
Lafora Disease
Inability to walk, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizu... ORPHA:501
Molybdenum Cofactor Deficiency, Complementation Group B
Hypertonia, Seizure, Opisthotonus, Spastic tetraplegia, Myoclonic spasms OMIM:252160
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Crisponi/Cold-Induced Sweating Syndrome 1
Seizure, Opisthotonus OMIM:272430
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Focal-onset seizure, Hypertonia, Ataxia, Bilater... OMIM:619092
Pancreatic Agenesis 1
Pancreatic hypoplasia, Diabetes mellitus, Neonatal insulin-dependent diabetes mellitus, Exocrine ... OMIM:260370
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Generalized hypotonia, Hypertonia, Muscular hypotonia of the trunk, Infantile ... ORPHA:508533
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Bilateral tonic-clonic seizure ORPHA:457205
Myoclonic Epilepsy Of Lafora
Apraxia, Gait disturbance, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:254780
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Poor motor coordination, Poor fine motor coordination, Loss of ability to walk, Bilat... ORPHA:79264
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, T... ORPHA:98795
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Athetosis, Ataxia, Bilateral tonic-clonic seizure OMIM:614559
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive extrapyramidal movement disorder, Progressive gait ataxia, Focal-onset seizure, Progr... ORPHA:329308
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Molybdenum Cofactor Deficiency, Complementation Group A
Abnormal muscle tone, Spastic tetraparesis, Seizure, Opisthotonus, Spastic tetraplegia, Myoclonic... OMIM:252150
Gaucher Disease, Perinatal Lethal
Seizure, Opisthotonus, Akinesia OMIM:608013
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Abnormal pyramidal sign, Seizure, Bilateral tonic-clonic seizure with generalized... ORPHA:101070
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... ORPHA:397946
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Rigidity, Hypotonia, Tremor, Hypertonia... OMIM:618877
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Bilateral tonic-clonic s... ORPHA:457240
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Multifocal seizures, Generalized tonic seizure, Dystonia, Incoordination, ... ORPHA:480864
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Opisthotonus, Hypertonia ORPHA:3304
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Generalized hypotonia, Impaired vibratory sensation, Hypoton... OMIM:183090
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Lethargy, Ataxia, Bilateral tonic-... ORPHA:42
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Intention tremor, ... OMIM:133190
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Hydranencephaly
Seizure, Opisthotonus, Lethargy, Spastic diplegia ORPHA:2177
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Nocturnal seizures, Bilateral tonic-clonic seizure, Stereotypy, Focal hyperk... ORPHA:98784
Hereditary Hyperekplexia
Gait disturbance, Hypertonia, Ataxia, Seizure, Myoclonus, Fasciculations, Rigidity, Spasticity ORPHA:3197
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Punding, Myoclonic absence seizure... ORPHA:64280
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Spastic paraparesis, Focal-onset seizure, Gait disturbance, Hemiparesis, Bilateral toni... ORPHA:395
Congenital Fibrinogen Deficiency
Opisthotonus ORPHA:335
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hemiparesis, Bilateral tonic-clonic seizure OMIM:540000
Bilateral Polymicrogyria
Pseudobulbar paralysis, Focal-onset seizure, Spastic hemiparesis, Abnormal pyramidal sign, Spasti... ORPHA:268940
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Impaired tactile sensation, Focal-onset seizure, Hypertonia, Bilateral tonic-clonic seizure with ... OMIM:619091
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma, Posterior lenticonus ORPHA:231736
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Inability to walk, Bilateral tonic-clonic seizure, Seizure, Limb hypertonia, Focal impaired aware... ORPHA:488613
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Spastic paraplegia, Bilateral tonic-clonic seizure, Seizure, Focal myoclonic seizure, Focal impai... ORPHA:369929
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:79243
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Babinski sign, ... ORPHA:777
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Spasticity, Ataxia, Seizure, Progressive cerebellar ataxia, Spastic tetraplegia, ... OMIM:616640
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Limb dystonia, Or... ORPHA:420485
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Truncal ataxia, Difficulty walking, Chorea, Hyperkinetic movements, Seizure, Infantile muscular h... ORPHA:369847
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Myoclonic-Astatic Epilepsy
Tremor, Atonic seizure, Focal-onset seizure, Abnormal pyramidal sign, Ataxia, Simple febrile seiz... ORPHA:1942
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Angelman Syndrome
Inability to walk, Tremor, Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizu... ORPHA:72
Mental Retardation, Autosomal Dominant 34
Stereotypy, Bilateral tonic-clonic seizure, Broad-based gait OMIM:616351
Coats Disease
Leukocoria OMIM:300216
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Inability to walk, Dystonia, Generalized hypotonia, Loss of ability to walk in early childhood, H... OMIM:612073
Early-Onset Lafora Body Disease
Seizure, Spastic tetraparesis, Myoclonus, Ataxia ORPHA:324290
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Generalized tonic seizure, Upper limb spasticity, Bilateral tonic-clonic seizu... OMIM:617193
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypertonia, Bilateral tonic-clonic seizure, Seizure, Infantile spasms, Spasticity ORPHA:544503
Sandhoff Disease
Impaired temperature sensation, Ataxia, Bilateral tonic-clonic seizure, Myoclonic seizure, Exagge... OMIM:268800
Neu-Laxova Syndrome
Opisthotonus ORPHA:2671
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:1934
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Myoclonus, Babin... ORPHA:364028
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Inability to walk, Difficulty walking, Ataxia, Bilateral tonic-clonic seizure, Seizure, Focal myo... ORPHA:481152
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Atonic seizure, Hypertonia, Spasticity, Bilateral tonic-cl... ORPHA:79351
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Spastic tetraplegia, Cerebral palsy, Bilateral tonic-clonic seizure OMIM:615474
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Spasticity, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (ab... ORPHA:457351
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Lower limb hypertonia, Spasticity, Simple febrile seizure, Seizure, Bilatera... ORPHA:2524
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Impaired tactile sensation, Bilateral tonic-clonic seizure ORPHA:453510
Pelger-Huet Anomaly
Seizure, Lower limb hypertonia, Bilateral tonic-clonic seizure OMIM:169400
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypertonia, Bilateral tonic-clonic seizure ORPHA:79350
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Dystoni... ORPHA:496641
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Amish Lethal Microcephaly
Limb hypertonia, Bilateral tonic-clonic seizure ORPHA:99742
3P25.3 Microdeletion Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Stereotypy, Atte... ORPHA:435638
Alternating Hemiplegia Of Childhood
Dystonia, Choreoathetosis, Tremor, Episodic hemiplegia, Chorea, Paroxysmal dyskinesia, Abnormal p... ORPHA:2131
Biotinidase Deficiency
Lethargy, Spastic paraparesis, Bilateral tonic-clonic seizure, Ataxia, Seizure, Focal motor seizu... ORPHA:79241
Ring Chromosome 21 Syndrome
Gait disturbance, Simple febrile seizure, Seizure, Bilateral tonic-clonic seizure with generalize... ORPHA:1445
Keppen-Lubinsky Syndrome
Seizure, Opisthotonus, Hypertonia, Spastic tetraparesis ORPHA:435628
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Uveitis, Iris c... OMIM:221900
Developmental And Epileptic Encephalopathy 95
Inability to walk, Multifocal seizures, Focal-onset seizure, Gait disturbance, Bilateral tonic-cl... OMIM:618143
Schinzel-Giedion Midface Retraction Syndrome
Seizure, Opisthotonus OMIM:269150
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Spastic tetraparesis, Bilateral tonic-clonic seizure OMIM:608809
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Hypertonia, Seizure, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Sp... OMIM:619076
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Spastic tetraparesis, Bilateral tonic-clonic seizure, Limb hypertonia, Babinski sign, Clonus ORPHA:423479
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Gait ataxia, Chorea, Hypertonia, Spasticity, Bilateral tonic-clonic seizure, Ataxia, Se... ORPHA:255210
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Dysmetria, Intention tremor ORPHA:208513
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Atonic seizure, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Spasticity OMIM:619059
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Hyperphosphatasia-Intellectual Disability Syndrome
Gait disturbance, Oculomotor apraxia, Ataxia, Bilateral tonic-clonic seizure, Seizure, Myoclonus ORPHA:247262
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Poor coordination, Bilateral tonic-clonic seizure ORPHA:478029
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
W Syndrome
Bilateral tonic-clonic seizure, Spasticity ORPHA:2804
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Bilateral tonic-clonic seizure OMIM:201475
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Dystonia, Bilateral tonic-clonic seizure OMIM:617050
Rhizomelic Chondrodysplasia Punctata, Type 5
Seizure, Convulsive status epilepticus, Broad-based gait OMIM:616716
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Dystonia, Tremor, Generalized hypotonia, Speech apraxia, Difficulty walking, C... OMIM:615356
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Hypertonia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Stereotypy, ... OMIM:615802
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypertonia, Bilateral tonic-clonic seizure, Lower limb spasticity, Stereotypy, Hyperactivity, Clo... ORPHA:447997
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Melas
Focal-onset seizure, Gait disturbance, Hemiparesis, Bilateral tonic-clonic seizure, Ataxia, Seizu... ORPHA:550
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Infantile spasms, Bilateral tonic-clonic seizure OMIM:618733
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Choreoacanthocytosis
Hypertonia, Head titubation, Progressive inability to walk, Falls, Hyperactivity, Phonic tics, Im... ORPHA:2388
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Chorioretinal hypopigmentation, Ectopia... OMIM:106210
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
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
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome