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Gene: Slc25a46 MGI:1914703

Gene Summary

Name:

solute carrier family 25, member 46

Synonyms:

1200007B05Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating glucose level	Slc25a46^em1(IMPC)J	HET	Early adult	9.97×10^-06
decreased grip strength	Slc25a46^em1(IMPC)J	HET	Early adult	6.64×10^-06
increased fasting circulating glucose level	Slc25a46^em1(IMPC)J	HET	Early adult	5.67×10^-07

Download data as: TSV XLS

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X-ray

XRay Images Whole Body Dorso Ventral

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Slc25a46 mutations

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

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

Human diseases associated with Slc25a46 (3 diseases)
Human diseases predicted to be associated with Slc25a46 (643 diseases)

The table below shows human diseases associated to Slc25a46 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Myoclonus	OMIM:619303
Pontocerebellar Hypoplasia Type 1	Peripheral axonal neuropathy, Ataxia, Hypoplasia of the pons, Optic atrophy, Degeneration of ante...	ORPHA:2254
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si...	OMIM:616505

The table below shows human diseases predicted to be associated to Slc25a46 by phenotypic similarity.

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign,...	OMIM:614322
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Spasticity, Gait ataxia, Ch...	ORPHA:225154
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse...	OMIM:611726
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Inability to walk,...	ORPHA:330050
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Parkinsonism, Abnormal cerebellum morphology, Vacuolated lymphocy...	OMIM:204200
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Gen...	OMIM:617810
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizu...	OMIM:301020
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Abnormal cerebellum morphology, Myoclonic s...	OMIM:162350
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Hypoplasia of the pons, Fo...	OMIM:619301
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski...	OMIM:615362
Episodic Ataxia, Type 9	Cerebellar edema, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status ...	OMIM:618924
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbanc...	OMIM:616230
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ...	OMIM:618090
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py...	ORPHA:282166
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Short stature, Hand tremor,...	OMIM:617862
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Spast...	OMIM:619302
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre...	OMIM:300423
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera...	ORPHA:2590
Isolated Focal Cortical Dysplasia	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa...	ORPHA:65683
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure...	OMIM:616981
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Pr...	ORPHA:263516
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Abnormal retinal morphology, Seizure, Intrauterine growth retardation, Hypopl...	ORPHA:89844
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Retinal dystrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizur...	OMIM:614559
Yoon-Bellen Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized myocloni...	OMIM:619701
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:610003
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Short stature, Tremor, Rigidity, Chiari type I malformati...	OMIM:617836
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Optic disc pallor, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Ina...	OMIM:617166
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene...	OMIM:618141
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Spastic tetraplegia, Dystonia,...	OMIM:618237
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking, Giant...	OMIM:613608
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia...	ORPHA:529665
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr...	OMIM:608105
Epilepsy, Familial Adult Myoclonic, 1	Bilateral tonic-clonic seizure, Tremor, Generalized myoclonic seizure, Giant somatosensory evoked...	OMIM:601068
Cln3 Disease	Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bull's eye maculopathy, Bilateral t...	ORPHA:228346
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Myoclonus, Dystonia	ORPHA:139406
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetr...	OMIM:618012
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Astrocytosis, Gliosis, Myoclonus, Abnormality of ...	ORPHA:204
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:615006
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Vacuolated lymphocytes, Limb tremor, Dysmetria, Clumsiness, Seizure, ...	OMIM:256731
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Tremor, Chorea, Babinsk...	OMIM:618093
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ...	OMIM:615400
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo...	ORPHA:599373
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Tremor, Seizure, Myoclonus, Enhancement of the C-reflex	OMIM:615127
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor ...	OMIM:614487
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Congenital Disorder Of Glycosylation, Type Iaa	Appendicular spasticity, Optic disc pallor, Bilateral tonic-clonic seizure, Pseudobulbar paralysi...	OMIM:617082
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dystonia	OMIM:600795
Peho-Like Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Status epilepticus, Myoclonus	OMIM:617507
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seiz...	OMIM:618917
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se...	OMIM:617389
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Seizur...	OMIM:611603
Developmental And Epileptic Encephalopathy 98	Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons...	OMIM:619605
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure	ORPHA:22
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Bilateral tonic-clonic seizur...	ORPHA:313772
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Seizure...	OMIM:236792
Continuous Spikes And Waves During Sleep	Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset s...	ORPHA:725
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, Growth delay, Seizure, Gait imba...	ORPHA:488635
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:617643
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t...	ORPHA:93952
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Dravet Syndrome	Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Behavioral Variant Of Frontotemporal Dementia	Bilateral tonic-clonic seizure, Astrocytosis, Abnormality of extrapyramidal motor function, Gait ...	ORPHA:275864
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure, Short stature	OMIM:619639
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Short stature, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr...	OMIM:617302
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Optic atrophy, Choreoathetosis, Status epilepticus, Myoclonus	OMIM:609056
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Retinal dystrophy, Ataxia, Delayed peripheral myelination, ...	ORPHA:464282
Developmental And Epileptic Encephalopathy 59	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Focal...	OMIM:617904
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, G...	OMIM:618170
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst...	OMIM:618425
Chromosome 15Q11-Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Increased serum serotonin, Truncal ataxia	OMIM:608636
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Pr...	ORPHA:329308
Epilepsy, Progressive Myoclonic, 6	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:614018
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor...	OMIM:617493
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria...	OMIM:213200
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Focal impaired awareness seizure, Astrocytosis	OMIM:607341
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Short stat...	ORPHA:457240
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen...	OMIM:616346
Foxg1 Syndrome	Optic disc hypoplasia, Bilateral tonic-clonic seizure, Infantile spasms, Short stature, Inability...	ORPHA:561854
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ...	OMIM:245570
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-...	ORPHA:36387
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei...	OMIM:616139
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Bilateral tonic-c...	OMIM:618067
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormality of extrapyramidal motor ...	OMIM:204300
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizu...	OMIM:271980
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, Cryptorch...	ORPHA:457205
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple...	OMIM:613721
Landau-Kleffner Syndrome	Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic sei...	ORPHA:98818
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Chorea, Athetosis, Seizure, Focal impaired awareness seiz...	ORPHA:382
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Seizure, Spasticity	OMIM:620317
Severe Canavan Disease	Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Optic atrophy, Seizure, Decereb...	ORPHA:314911
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Ataxia, Optic nerve hypoplasia, Dysmetria, Gait ataxia	OMIM:614306
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s...	OMIM:619606
Developmental And Epileptic Encephalopathy 42	Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Ataxia, Bilateral tonic-clonic seizure	OMIM:617709
Kohlschutter-Tonz Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Cerebell...	OMIM:226750
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Inability to walk, Astrocytosis, Seizure, Difficulty walking, Diabetes insipidus	OMIM:611087
Myoclonic Epilepsy, Familial Infantile	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G...	OMIM:605021
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:618497
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor c...	ORPHA:79264
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead...	OMIM:616409
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Short stature, Tonic seizure, Unsteady gait, Foc...	OMIM:617711
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Chorioretinal dystrophy, Retinal dystrophy, Ataxia, Hypogonadotropic hypogona...	OMIM:215470
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Short stature, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus...	OMIM:619065
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst...	OMIM:104290
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegaly, Micronodular cirrhosis, Jaun...	ORPHA:309854
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im...	OMIM:619970
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Gen...	ORPHA:86909
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria...	OMIM:607136
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non...	OMIM:607682
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia, Cryptorchidism, Optic a...	ORPHA:496790
X-Linked Intellectual Disability, Najm Type	Optic nerve hypoplasia, Rigidity, Optic atrophy, Seizure, Gait disturbance, Cerebellar hypoplasia...	ORPHA:163937
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Oculo...	ORPHA:208447
Developmental And Epileptic Encephalopathy 43	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence sei...	OMIM:617113
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Focal im...	OMIM:615859
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Spl...	OMIM:610539
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ...	ORPHA:2382
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro...	OMIM:612736
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Astrocytosis, Abnormality of extrapyramidal...	ORPHA:100070
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure	OMIM:617080
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni...	ORPHA:352582
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi...	OMIM:617976
Developmental And Epileptic Encephalopathy 106	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo...	OMIM:620028
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity	OMIM:613722
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure, Intention tremor	OMIM:617863
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia	OMIM:203740
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Typical absence se...	ORPHA:168491
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Cerebellar gliosis, ...	ORPHA:79243
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz...	ORPHA:100988
Ataxia-Telangiectasia	Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor, Ataxia, S...	OMIM:208900
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus	OMIM:617171
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Hepatomegaly...	ORPHA:90324
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:266100
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619157
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetria, Gait ataxia, P...	ORPHA:254881
Sarcosinemia	Optic atrophy, Tetraparesis, Ataxia, Bilateral tonic-clonic seizure	ORPHA:3129
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Myoclonus	OMIM:619303
Epilepsy, Progressive Myoclonic, 12	Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking	OMIM:619191
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Seizure, Pseudobulbar paralysis, Focal impaired awareness seizure...	ORPHA:208441
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S...	OMIM:617350
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Inability to walk, Foc...	OMIM:616645
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Episodic Ataxia, Type 5	Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Lower limb spasticity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizur...	OMIM:617193
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Epilepsia partialis continua, Hepatomegaly, Ataxia, Paralysis, Microvesicular...	OMIM:203700
Sulfite Oxidase Deficiency, Isolated	Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Hypertonia, Cerebe...	OMIM:272300
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par...	ORPHA:53583
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Developmental And Epileptic Encephalopathy 24	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:603204
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w...	OMIM:617988
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia	OMIM:300857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebel...	OMIM:615181
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Abnormal pyramidal sign, Seizure, Mild...	OMIM:614833
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Chorea, ...	ORPHA:485350
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Alpers-Huttenlocher Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo...	ORPHA:726
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Lissencephaly 10	Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se...	OMIM:618873
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener...	OMIM:619616
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Gait ataxia, Cerebell...	OMIM:300953
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Optic nerve dysplasia, P...	OMIM:214110
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl...	OMIM:604484
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spasti...	OMIM:615031
Pontocerebellar Hypoplasia Type 1	Peripheral axonal neuropathy, Ataxia, Hypoplasia of the pons, Optic atrophy, Degeneration of ante...	ORPHA:2254
Developmental And Epileptic Encephalopathy 61	Bilateral tonic-clonic seizure with focal onset, Optic atrophy, Seizure, Focal clonic seizure, Lo...	OMIM:617933
Familial Focal Epilepsy With Variable Foci	Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo...	ORPHA:98820
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ...	OMIM:602481
Mirage Syndrome	Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Cryptorchidism, Paraplegia, An...	OMIM:617053
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par...	OMIM:109150
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618470
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O...	ORPHA:101085
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Fusion of the cerebellar hemispheres, Optic nerve h...	ORPHA:370959
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:254800
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia, Infantile spasms, Tonic seizure, Focal motor seizure, Myoclonic seizure, ...	OMIM:618890
Chromosome 19P13.13 Deletion Syndrome	Chiari type I malformation, Seizure, Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity...	OMIM:619911
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Aminoacylase 1 Deficiency	Cerebellar atrophy, Seizure, Bilateral tonic-clonic seizure	OMIM:609924
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl...	ORPHA:171680
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Cerebellar hypoplasia, Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Apla...	ORPHA:65288
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Facial palsy, Inability to walk, Focal-onset seizure, Generalized non-motor (absence) seizure, As...	ORPHA:258
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Cryptorchidism, ...	OMIM:604317
Bilateral Polymicrogyria	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ...	ORPHA:268940
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Cryptorchidism, Chorea, Seizure, Focal impaired awareness seizure...	OMIM:613970
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si...	OMIM:616505
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Intellectual Developmental Disorder, Autosomal Dominant 5	Seizure, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure	OMIM:612621
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Bilateral tonic-clonic seizure, Diabetes ...	ORPHA:423479
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Japanese Encephalitis	Decreased motor nerve conduction velocity, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Res...	ORPHA:79139
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Splenomegaly, Generalize...	OMIM:615637
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata...	ORPHA:140927
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Short stature, Infantile spasms, In...	OMIM:618325
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp...	ORPHA:699
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomega...	ORPHA:309155
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Bilateral tonic-clon...	OMIM:268800
Gracile Bone Dysplasia	Asplenia, Seizure, Hypoplastic spleen, Short stature	OMIM:602361
5Q14.3 Microdeletion Syndrome	Seizure, Agenesis of cerebellar vermis, Optic nerve hypoplasia	ORPHA:228384
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Facia...	OMIM:617281
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Involuntary movements, Optic nerve hypoplasia, Infantile spasms, Myoclonic seizure, Aplasia/Hypop...	ORPHA:572013
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:616341
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus,...	OMIM:619913
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, To...	OMIM:619881
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi...	ORPHA:101071
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo...	ORPHA:1929
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, C...	OMIM:616672
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Clonus, Incoordina...	ORPHA:480864
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se...	OMIM:617105
Severe Neonatal-Onset Encephalopathy With Microcephaly	Bilateral tonic-clonic seizure, Involuntary movements, Growth delay, Seizure, Spasticity	ORPHA:209370
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Short stature, Optic nerve hypoplasia, Inability to walk, Chorea, S...	OMIM:617864
Unilateral Focal Polymicrogyria	Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Spastic hemiparesis, Foc...	ORPHA:268947
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms	ORPHA:250972
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Tetraplegia, Spasticit...	ORPHA:496641
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Optic neuropathy, Axonal degeneration, Poor coordination, Abnorma...	ORPHA:478029
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Anisopoikilocytosi...	OMIM:619835
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s...	OMIM:619428
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence...	ORPHA:79137
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inabi...	OMIM:619580
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Postnatal grow...	ORPHA:300570
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Lower limb spasticity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with ...	ORPHA:163681
Polymicrogyria, Bilateral Perisylvian, X-Linked	Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Craniotelencephalic Dysplasia	Cerebellar hypoplasia, Optic nerve hypoplasia	OMIM:218670
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evo...	OMIM:607876
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo...	OMIM:617290
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Cogwheel rigidity, ...	OMIM:619725
Systemic Primary Carnitine Deficiency	Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Clumsiness	ORPHA:158
Brain Small Vessel Disease 2	Bilateral tonic-clonic seizure, Focal-onset seizure, Spastic tetraplegia, Growth delay, Hemiplegia	OMIM:614483
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Complex febrile seizur...	ORPHA:363549
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Short stature, Focal-onset seizure, Hypertonia, ...	ORPHA:289266
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Short stature, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Mate...	ORPHA:3157
De Sanctis-Cacchione Syndrome	Severe short stature, Ataxia, Bilateral tonic-clonic seizure, Bilateral cryptorchidism, Axonal de...	OMIM:278800
Congenital Disorder Of Glycosylation, Type Iiy	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:620200
Amish Lethal Microcephaly	Hepatomegaly, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Spina bifida, Optic a...	ORPHA:99742
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the optic nerve, Hypoplasia of the thymus, Abnormal retinal morphology	ORPHA:40366
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:309530
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Speech apraxia, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:163721
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure, Spasticity	OMIM:618235
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Intellectual Developmental Disorder With Seizures And Language Delay	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:619000
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocyt...	OMIM:601104
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Spastic tetraplegia, Opisthotonus, Growth...	OMIM:220120
Immunodeficiency 9	Hypoplasia of the thymus, Difficulty walking	OMIM:612782
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Hypoplasia of the pons, Spina bifida occulta, Optic nerve hypoplasia, Dandy-Walker malformation	OMIM:618736
Ritscher-Schinzel Syndrome 4	Ataxia, Bilateral tonic-clonic seizure, Short stature, Focal-onset seizure, Cryptorchidism, Chore...	OMIM:619435
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Atrophy of th...	ORPHA:395
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Rigidity, Abnormal p...	ORPHA:199354
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
Familial Renal Glucosuria	Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria	ORPHA:69076
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Fanconi Anemia, Complementation Group I	Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Chi...	OMIM:609053
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Optic nerve...	OMIM:615574
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Optic disc pallor, Short stature, Optic nerve hypoplasia, Hypoplasia of...	OMIM:300749
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Short stature, ...	ORPHA:364028
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Abnormal spinal cord morphol...	ORPHA:88628
Warburg Micro Syndrome 3	Lower limb spasticity, Bilateral tonic-clonic seizure, Postnatal growth retardation, Inability to...	OMIM:614222
Centralopathic Epilepsy	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures	OMIM:117100
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei...	OMIM:169400
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:608600
Developmental And Epileptic Encephalopathy 90	Bilateral tonic-clonic seizure, Focal-onset seizure, Babinski sign, Ankle clonus, Focal impaired ...	OMIM:301058
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Abnormal pyramidal sign, Opisthot...	OMIM:271900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Grow...	OMIM:615716
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Chiar...	OMIM:620157
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,...	ORPHA:552
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Hepatomegaly, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Hy...	OMIM:618143
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Short stature,...	OMIM:617799
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Spastic Paraplegia 54, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Rigidity, Babinski sign, Spastic paraplegia, Syringomyelia...	OMIM:615033
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Hypertonia, Spasti...	ORPHA:544503
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Intention tremor, Focal clonic seizure, Optic nerve hypoplasia, Bilateral tonic-clonic seizure	OMIM:618381
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Bilateral tonic-clonic seizure, Pure red cell aplasia,...	ORPHA:436159
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa...	OMIM:616281
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Precocious puberty, Inability to walk, Myoclonic...	OMIM:619877
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Short stature, Optic nerve hypoplasia, Cryptorchidism, Leukopenia, Seizure, Cerebel...	OMIM:301056
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Appendicular spasticity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Short stat...	OMIM:620070
Cardiofaciocutaneous Syndrome 4	Cerebellar hypoplasia, Short stature, Optic nerve hypoplasia, Decreased response to growth hormon...	OMIM:615280
Optic Atrophy-Intellectual Disability Syndrome	Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Optic atrophy, Seizure, Spasticity	ORPHA:401777
Intellectual Developmental Disorder, X-Linked 30	Bilateral tonic-clonic seizure, Short stature, Generalized non-motor (absence) seizure, Clumsines...	OMIM:300558
Superficial Siderosis	Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t...	ORPHA:247245
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Optic atrophy, Cerebellar hypoplasia	ORPHA:1528
Tatton-Brown-Rahman Syndrome	Chiari type I malformation, Seizure, Febrile seizure (within the age range of 3 months to 6 years...	OMIM:615879
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor ...	OMIM:615398
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Septooptic Dysplasia	Optic disc hypoplasia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response ...	OMIM:182230
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Optic disc pallor, Hepatomegaly, Ataxia, Bilateral tonic-clonic seizure, Opti...	OMIM:252010
Nivelon-Nivelon-Mabille Syndrome	Cerebellar vermis hypoplasia, Severe short stature, Bilateral tonic-clonic seizure, Focal-onset s...	OMIM:600092
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Pancreatic And Cerebellar Agenesis	Agenesis of cerebellar vermis, Diabetes mellitus, Optic nerve hypoplasia, Seizure, Cerebellar hyp...	OMIM:609069
Chromosome 2P16.1-P15 Deletion Syndrome	Short stature, Optic nerve hypoplasia, Hypoplasia of the pons, Cryptorchidism, Postnatal growth r...	OMIM:612513
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Aganglionic megacolon, Bilateral tonic-clonic seizure, Short stature, Inability to walk, Generali...	OMIM:614207
Lafora Disease	Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal...	ORPHA:501
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Retinal dystrophy, Bilateral tonic-clonic seizure, Anterior pituitary hypoplasia, Tonic seizure, ...	OMIM:619983
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Bilateral tonic-clonic seizure, Short stature, Megaloblastic anemia, Generalized...	ORPHA:79351
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Mi...	OMIM:620292
Cerebral Visual Impairment	Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematur...	ORPHA:447788
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Hepatomegaly, Bilateral tonic-clonic seizure, Decreased nerve conduction velo...	OMIM:261515
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Intrauterine growth r...	OMIM:601186
Joubert Syndrome 40	Oculomotor apraxia, Optic nerve hypoplasia	OMIM:619582
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Retinal dystrophy, Short stature, Bilateral tonic-clonic seizure, B...	OMIM:615802
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Ataxia, Anterior pituitary hypoplasia, Sh...	OMIM:616113
Melas	Hypoparathyroidism, Peripheral axonal neuropathy, Diabetes mellitus, Ataxia, Bilateral tonic-clon...	ORPHA:550
Cataracts, Spastic Paraparesis, And Speech Delay	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com...	OMIM:619338
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Congenital hypothyroidism, Seizure, Incre...	OMIM:606519
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure,...	ORPHA:1934
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure, Short stature, Cryptorchidism, Optic atrophy, Pigmentary retinopa...	OMIM:300578
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure, Hypoinsulinemia	OMIM:240900
Lethal Congenital Contracture Syndrome 10	Intrauterine growth retardation, Torticollis, Hypoplasia of the thymus	OMIM:617022
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism...	OMIM:620224
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Speech apraxia, Aplasia/Hypoplasia of the optic nerve, Unilateral cryptorchidism, Optic nerve hyp...	ORPHA:137634
New-Onset Refractory Status Epilepticus	Cerebellar edema, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with ...	ORPHA:363558
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Dystonia, Bilateral tonic-clonic seizure, Splenomegaly, Ocular albinism, Neutropeni...	OMIM:617050
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bradykinesia, Seizure, Slowed slurred ...	OMIM:619827
Biotinidase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Infantile spasms, Myelopathy, Optic atr...	ORPHA:79241
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Segmental peripheral demy...	ORPHA:255210
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Foc...	OMIM:619854
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Hypertonia, Ce...	OMIM:615501
Rabin-Pappas Syndrome	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Chiar...	OMIM:620155
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Optic nerve hypoplasia, Facial palsy, Supernumerary nipple, Optic atrophy,...	ORPHA:261349
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia	ORPHA:3204
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Bilateral tonic-clonic seizure, Gait imbalance, Short stature	OMIM:618120
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Bilateral tonic-clonic seizure, Abnormal lymphocyte count, Portal hyp...	ORPHA:79124
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Bilateral tonic-clonic seizure, Focal-onset seizure, Cryptorchidism, Chiari type...	OMIM:618316
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Hemiparesis, Diabetes mellitus, Bilateral tonic-clonic seizure	OMIM:540000
Fg Syndrome Type 1	Broad-based gait, Short stature, Optic nerve hypoplasia, Abnormal cerebellum morphology, Cryptorc...	ORPHA:93932
19P13.13 Microdeletion Syndrome	Optic nerve hypoplasia, Optic atrophy, Chiari type I malformation, Seizure, Syringomyelia	ORPHA:357001
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Ataxia, Anterior pituitary hypoplasia, ...	ORPHA:453533
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Bilateral tonic-clonic seizure, Cerebral palsy, Spastic paraplegia, Abnormal...	ORPHA:369929
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Hepatomegaly, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ...	ORPHA:369840
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo...	ORPHA:1945
Microcephaly 20, Primary, Autosomal Recessive	Cerebellar hypoplasia, Intrauterine growth retardation, Short stature, Optic nerve hypoplasia	OMIM:617914
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Growth delay, Intrauterine growth ...	ORPHA:85284
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:614231
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Seizures, Benign Familial Infantile, 1	Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic...	OMIM:601764
Verheij Syndrome	Short stature, Optic nerve hypoplasia, Growth delay, Seizure, Intrauterine growth retardation	OMIM:615583
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen...	ORPHA:457351
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ataxia, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ...	ORPHA:42
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Tremor, Optic atrophy, Se...	OMIM:610505
Cole Disease	Hyperglycemia	OMIM:615522
Syndromic Diarrhea	Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Abnormality of the liv...	ORPHA:84064
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Growth delay...	OMIM:614034
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Seizure, Difficulty walking, Spasticit...	ORPHA:481152
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Congenital hypothyroid...	OMIM:616973
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im...	OMIM:300607
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Intrauterine growth retardation, Generalized non-motor (absence) seizure, Optic nerve hypoplasia,...	ORPHA:363686
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Optic disc pallor, Severe short stature, Optic nerve hypoplasia, Olivopontoce...	ORPHA:468631
Nabais Sa-De Vries Syndrome, Type 1	Hypertonia, Optic nerve hypoplasia, Prolonged neonatal jaundice	OMIM:618828
Mosaic Variegated Aneuploidy Syndrome 1	Bilateral tonic-clonic seizure, Short stature, Postnatal growth retardation, Cryptorchidism, Tetr...	OMIM:257300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Seizu...	OMIM:236670
Squalene Synthase Deficiency	Bilateral cryptorchidism, Seizure, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:618156
Alternating Hemiplegia Of Childhood	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p...	ORPHA:2131
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Aganglionic megacolon, Abnormality of the tonsils, Short sta...	ORPHA:567
Intellectual Developmental Disorder, Autosomal Dominant 45	Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ...	OMIM:617600
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Ataxia, Bilateral tonic-clonic seizure, Supernumerary nipple, Growth delay...	ORPHA:247262
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Choreoacanthocytosis	Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude of...	ORPHA:2388
Neuromuscular Oculoauditory Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Chorioreti...	OMIM:618733
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s...	ORPHA:98795
Stromme Syndrome	Accessory spleen, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Cerebellar hypoplasia, Re...	OMIM:243605
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Inability to walk, Growth delay, Seizure, Focal impaired awarenes...	ORPHA:488613
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617468
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, P...	OMIM:300912
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Lower limb spasticity, Optic nerve hypoplasia, Tonic seizure, Postnatal growth retardation, Focal...	OMIM:620029
Dk1-Cdg	Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure	ORPHA:91131
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Short...	OMIM:614947
Molybdenum Cofactor Deficiency, Complementation Group B	Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Growth delay, Seizure, Axonal ...	OMIM:252160
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growt...	OMIM:618165
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr...	OMIM:240300
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Ataxia, Optic nerve hypoplasia, Generalized myoclonic seizure, Abnormal T cell subset distributio...	ORPHA:221139
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia	OMIM:619737
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Ataxia, Short stature, Splenomegaly, Inability to walk, Jaundice,...	OMIM:608885
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure	OMIM:600721
Gaucher Disease	Hepatomegaly, Pancytopenia, Ataxia, Bilateral tonic-clonic seizure, Short stature, Tremor, Thromb...	ORPHA:355
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Short stature, Leukocytosis, Optic atrophy, Hypoplasia...	OMIM:619321
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Generalized-onset seizure, Cerebellar vermis hypoplasia, Bilateral tonic-clonic ...	OMIM:620024
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Type I diabetes...	ORPHA:436252
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia	OMIM:246200
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Hypertonia, Gliosis, ...	ORPHA:268261
Insulin-Resistance Syndrome Type B	Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem...	ORPHA:2298
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Cryptorchi...	OMIM:610125
White-Sutton Syndrome	Waddling gait, Short stature, Optic nerve hypoplasia, Hypoglycemic seizures, Focal impaired aware...	OMIM:616364
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Hydranencephaly	Optic nerve hypoplasia, Postnatal growth retardation, Chorioretinal atrophy, Spastic diplegia, Op...	ORPHA:2177
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Growth delay, Hypoplasia of the thymus, Adrenal hypoplasia	OMIM:613177
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang...	ORPHA:59315
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:681
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia	OMIM:615954
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Retinal dystrophy, Bilateral tonic-clonic seizure, Tonic seizure, Hypoplasia of the pons, Cryptor...	OMIM:619512
Houge-Janssens Syndrome 3	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz...	OMIM:618354
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Wiedemann-Rautenstrauch Syndrome	Short stature, Cryptorchidism, Increased serum testosterone level, Chiari malformation, Hypoplasi...	OMIM:264090
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Bilateral tonic-clonic seizure	OMIM:619356
Isolated Anencephaly	Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Weaver Syndrome	Bilateral tonic-clonic seizure, Cryptorchidism, Slurred speech, Generalized non-motor (absence) s...	OMIM:277590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp...	OMIM:614643
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Ataxia, Bilateral tonic-clonic seizure, Neonatal insulin-dependent ...	ORPHA:99885
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati...	OMIM:208540
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis...	OMIM:615474
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus	OMIM:615812
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Cryptorchidism, Seizure, Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Craniosynostosis 4	Chiari type I malformation, Ectopic posterior pituitary, Optic nerve hypoplasia	OMIM:600775
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Focal-onset seizure, Cryptorchidism, G...	ORPHA:459070
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Seizure, Hypertonia, Myoclonus, Spast...	OMIM:618426
3P25.3 Microdeletion Syndrome	Generalized myoclonic seizure, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-c...	ORPHA:435638
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,...	OMIM:620066
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Postnatal growth retardation, Hypertonia, Bilateral tonic-clonic seizure	ORPHA:79350
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia	OMIM:615453
Treacher-Collins Syndrome	Cryptorchidism, Blepharospasm, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyro...	ORPHA:861
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, Involuntary movements, Cryptorchidism, Unsteady gait, Generalized...	OMIM:617798
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Focal hyperkinetic se...	ORPHA:98784
1Q44 Microdeletion Syndrome	Growth delay, Optic disc hypoplasia, Short stature, Bilateral tonic-clonic seizure	ORPHA:238769
Hallermann-Streiff Syndrome	Bilateral tonic-clonic seizure, Proportionate short stature, Spina bifida, Cryptorchidism, Optic ...	OMIM:234100
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Retrocerebellar ...	OMIM:603671
Digeorge Syndrome	Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Splenomegal...	OMIM:188400
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Cardiofacioneurodevelopmental Syndrome	Asplenia, Cryptorchidism, Cerebellar vermis hypoplasia, Abdominal situs inversus	OMIM:619123
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Bilateral tonic-clonic seizure	OMIM:616351
Eec Syndrome	Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat...	ORPHA:1896
Pituitary Stalk Interruption Syndrome	Septo-optic dysplasia, Ectopic posterior pituitary, Short stature, Adrenal hypoplasia, Cryptorchi...	ORPHA:95496
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polyc...	ORPHA:2969
Cerebrooculonasal Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Postnatal growth retardation, Seizure, Dand...	OMIM:605627
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Rhizomelic Chondrodysplasia Punctata, Type 2	Disproportionate short stature, Rhizomelia, Optic nerve hypoplasia	OMIM:222765
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro...	ORPHA:227982
Congenital Insensitivity To Pain With Severe Intellectual Disability	Impaired tactile sensation, Pain insensitivity, Bilateral tonic-clonic seizure	ORPHA:453510
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Postnatal growth retardation, Cryptorchidism, Reduced alpha/beta ...	OMIM:301040
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Supernumerary nipple	OMIM:616083
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i...	ORPHA:227990
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Optic nerve hypoplasia, Proportionate short stature, Postnatal growth reta...	ORPHA:79345
Mosaic Trisomy 9	Spina bifida, Asplenia, Cryptorchidism, Abnormal liver lobulation, Intrauterine growth retardatio...	ORPHA:99776
Webb-Dattani Syndrome	Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Anterior p...	OMIM:615926
Phace Syndrome	Optic nerve hypoplasia, Hemiplegia/hemiparesis, Seizure, Retinal vascular malformation, Cerebella...	ORPHA:42775
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Primary Ciliary Dyskinesia	Asplenia, Rod-cone dystrophy, Polysplenia	ORPHA:244
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia	OMIM:607597
Pitt-Hopkins-Like Syndrome 1	Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, Focal impaire...	OMIM:610042
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Sweeney-Cox Syndrome	Asplenia, Bilateral cryptorchidism, Cerebellar hypoplasia	OMIM:617746
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hypoplasia of the pons, C...	ORPHA:495875
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Short stature, Generalized myoclonic-at...	OMIM:614756
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Lujo Hemorrhagic Fever	Resting tremor, Bilateral tonic-clonic seizure, Leukocytosis, Fulminant hepatitis, Leukopenia, Se...	ORPHA:319213
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Glass Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Short stature, Seizure, Febrile seizure (within...	OMIM:612313
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	OMIM:608612
Microphthalmia, Syndromic 3	Optic nerve aplasia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterior pituitary hy...	OMIM:206900
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Hypoparathyroidism, Bilateral tonic-clonic seizure, Precocious puberty, Gener...	ORPHA:369837
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp...	ORPHA:2088
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Short stature	ORPHA:3004
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Bilateral tonic-clonic seizure, Hepatocellular necrosis, Periportal fibrosis, Hepat...	OMIM:201475
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Hydrocele testis, Bilateral tonic-clonic seizure	OMIM:618832
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Short stature, Optic nerve hypoplasia, Cryptorchidism, Chiari type I malformation, Dandy-Walker m...	OMIM:617506
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Acute lymphoblastic ...	OMIM:280000
Meckel Syndrome	Accessory spleen, Abnormal chorioretinal morphology, Pancreatic fibrosis, Asplenia, Congenital he...	ORPHA:564
Aniridia-Intellectual Disability Syndrome	Optic nerve hypoplasia	ORPHA:1068
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Diabetes mellitus, Bilateral tonic-clonic seizure, Elevated hemoglobin A1c	OMIM:619278
Marshall-Smith Syndrome	Short stature, Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Hypertonia, Cere...	OMIM:602535
Necrotizing Enterocolitis	Hyperglycemia, Abnormal glucose homeostasis	ORPHA:391673
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Broad-based gait, Epileptic spasm, Short stature, Involuntary movements, Exagg...	ORPHA:438213
Dend Syndrome	Hyperglycemia	ORPHA:79134
Kinsship Syndrome	Bilateral tonic-clonic seizure, Short stature, Spastic tetraparesis, Focal-onset seizure, General...	OMIM:619297
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Supernumerary nipple, Impaired pain sensation, Inability to walk, Typical...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Supernumerary nipple, Impaired pain sensation, Inability to walk, Typical...	ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Optic nerve hypop...	OMIM:620330
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus	OMIM:615710
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait a...	ORPHA:513456
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Optic nerve...	ORPHA:95494
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Decreased serum testosterone concentration, Bilateral tonic-clonic seizure, Elevated circulating ...	ORPHA:3044
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th...	ORPHA:83471
Monosomy 22	Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Hypertonia	ORPHA:96123
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Seizure, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia	ORPHA:457284
Doors Syndrome	Small cerebellar cortex, Adrenal hyperplasia, Bilateral tonic-clonic seizure, Optic atrophy, Cong...	ORPHA:79500
Meckel Syndrome, Type 1	Dilated fourth ventricle, Accessory spleen, Malformation of the hepatic ductal plate, Adrenal hyp...	OMIM:249000
W Syndrome	Spasticity, Bilateral tonic-clonic seizure	ORPHA:2804
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia	ORPHA:90065
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Optic nerve hypoplasia, Facial palsy, Spina bifida, Abnormal optic disc morphology...	ORPHA:508498
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
X Small Rings	Congenital stationary night blindness, Seizure, Growth delay, Bilateral tonic-clonic seizure	ORPHA:96201
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas, Aganglionic megacolon	ORPHA:210122
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Diabetes mellitus	ORPHA:465508
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:134
Ogden Syndrome	Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Short stature, Maternal d...	OMIM:300855
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Facial palsy, Short stature, Optic disc coloboma, Congenita...	OMIM:620186
Baller-Gerold Syndrome	Severe short stature, Short stature, Optic nerve hypoplasia, Anomalous splenoportal venous system...	OMIM:218600
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Hypogonadotropic hypogonadism, Optic nerve hypoplasia	ORPHA:45358
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Bilateral tonic-clonic seizure, Increased circulating androgen concentration, ...	ORPHA:2976
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus	OMIM:151660
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Bilateral tonic-clonic seizure, Cerebellar hypoplasia, Difficulty walking, Gait ataxia	ORPHA:457359
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
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
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Generalized-onset seizure, Optic nerve hypoplasia, Proportionate short statur...	ORPHA:500150
Mitochondrial Trifunctional Protein Deficiency 2	Seizure, Bilateral tonic-clonic seizure	OMIM:620300
Holoprosencephaly 9	Short stature, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growt...	OMIM:610829
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Short stature, Optic nerve hypoplasia, Cryptorchidism, Optic disc colob...	ORPHA:536471
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia, Seizure, Short stature	OMIM:619657
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance	OMIM:248370
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Holoprosencephaly 14	Cerebellar atrophy, Partial absence of cerebellar vermis, Bilateral tonic-clonic seizure, Dandy-W...	OMIM:619895
Cocaine Intoxication	Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse...	ORPHA:90068
Heterotaxy, Visceral, 5, Autosomal	Cerebellar atrophy, Asplenia, Abdominal situs inversus, Cerebellar hypoplasia, Intrauterine growt...	OMIM:270100
Truncus Arteriosus	Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus	ORPHA:3384
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia	ORPHA:440713
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Agenesis of cerebellar vermis, Aganglionic megacolon, Cerebellar vermis hypopla...	ORPHA:261537
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Poor coordination, Generalized non-motor (absence) seizure, Seizu...	ORPHA:466943
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Infancy onset short-trunk short stature, Short stature, Optic nerve ...	ORPHA:508488
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Cerebellar hypoplasia, Polyspl...	OMIM:306955
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca...	OMIM:301044
Sotos Syndrome	Astrocytoma, Cerebellar vermis hypoplasia, Aganglionic megacolon, Bilateral tonic-clonic seizure,...	ORPHA:821
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:615538
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Pulmonary lymphangiectasia, Chiari malformation, Syringomyelia, Annular pancreas	OMIM:265380
Mowat-Wilson Syndrome	Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Aganglionic megaco...	ORPHA:2152
Oliver Syndrome	Intrauterine growth retardation, Bilateral tonic-clonic seizure, Supernumerary nipple	ORPHA:2920
Feingold Syndrome 1	Accessory spleen, Asplenia, Vocal cord paralysis, Polysplenia, Annular pancreas	OMIM:164280
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria	OMIM:227810
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Agenesis of cerebellar vermis, Aganglionic megacolon, Cerebellar vermis hypopla...	ORPHA:261552
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Aniridia 1	Hypoplasia of the fovea, Optic nerve hypoplasia, Chorioretinal hypopigmentation, Macular agenesis...	OMIM:106210
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypertonia, Myoc...	ORPHA:447997
Holoprosencephaly 13, X-Linked	Seizure, Septo-optic dysplasia, Optic nerve hypoplasia	OMIM:301043
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Bilateral tonic-clonic seizure, Hepatic calcification, Hyperkinetic movements, Hyperaldosteronism...	ORPHA:73224
Pyruvate Carboxylase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:3008
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Retinal hamartoma, ...	ORPHA:744
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism, Short stature	ORPHA:221120
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Optic nerve hypoplasia, Cryptorchidism	OMIM:620025
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia	OMIM:124000
Orofaciodigital Syndrome Type 2	Central retinal vessel vascular tortuosity, Bilateral tonic-clonic seizure, Short stature	ORPHA:2751
Hartsfield Syndrome	Bilateral tonic-clonic seizure, Cryptorchidism, Gonadotropin deficiency, Growth delay, Diabetes i...	OMIM:615465
Atypical Werner Syndrome	Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperinsulinemi...	ORPHA:79474
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:612474
Leprechaunism	Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Pos...	ORPHA:508
Proboscis Lateralis	Optic disc coloboma, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:141099
Heart Defects, Congenital, And Other Congenital Anomalies	Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis	OMIM:273395
Scorpion Envenomation	Hyperglycemia, Glycosuria	ORPHA:466677
Kabuki Syndrome 1	Hemolytic anemia, Short stature, Bilateral tonic-clonic seizure with focal onset, Premature thela...	OMIM:147920
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia	ORPHA:444077
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:79102
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Hypoglycemia	OMIM:220111
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyperglycemia	ORPHA:293987

Histopathology

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

There is no histopathology data for Slc25a46

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc25a46.

No publications found that use IMPC mice or data for Slc25a46.

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MGI Allele	Allele Type	Produced
Slc25a46^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc25a46^em1(IMPC)J	Exon Deletion	Mice
Slc25a46^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Slc25a46 MGI:1914703

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Slc25a46 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data