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Gene: Slc25a12 MGI:1926080

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Gene Summary

Name:
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
Synonyms:
B230107K20Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Slc25a12em1(IMPC)Hmgu HOM   Early adult 1.34×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Slc25a12 mutations

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

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

The table below shows human diseases associated to Slc25a12 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Seizure, Status epilepticus... OMIM:612949

The table below shows human diseases predicted to be associated to Slc25a12 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Stxbp1-Related Encephalopathy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... OMIM:614561
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Dystonia 31
Generalized dystonia, Parkinsonism, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Diffi... OMIM:619565
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401840
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Increased serum ser... OMIM:608636
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Depression, G... OMIM:615362
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... ORPHA:216873
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia OMIM:617018
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Weight lo... ORPHA:157941
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Intrauterine growth r... OMIM:620270
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dyspha... OMIM:617862
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Seizure, Agitation, Hemiplegia OMIM:141500
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... ORPHA:401901
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Ventriculomegaly, Tremor, Inability to walk, Seizure, Stereotypical hand wringing OMIM:619561
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Delayed CNS myelination, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemi... OMIM:620145
Foxg1 Syndrome
Dystonia, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Foc... ORPHA:561854
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Abnormal myelination, Agen... ORPHA:401820
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate... ORPHA:98818
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Inabil... OMIM:619639
Myoclonic-Atonic Epilepsy
Delayed CNS myelination, Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-mo... OMIM:616421
Developmental And Epileptic Encephalopathy 59
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Self-... OMIM:617904
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... ORPHA:251282
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure, Slender build, Aggressive behavior OMIM:617709
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Short stature, Parkinsonism, Anorexia, Ag... ORPHA:3077
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity... OMIM:618090
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Severe demyelination of th... ORPHA:488635
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Delayed CNS myelination, Ataxia, Aggressive behavior, Tremor, Seizure, Spasticity OMIM:300983
Sandhoff Disease, Adult Form
Dystonia, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dysphagia, Spasticity ORPHA:309169
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Depression, Myoclonic seizure, Seizure, Abn... OMIM:162350
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Seizure, Abnormal urinar... ORPHA:391417
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Athetosis, Se... ORPHA:382
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... OMIM:617113
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Cachexia, Bilateral tonic-clonic seizure, Tremor, Chorea, Babinsk... OMIM:618093
2,4-Dienoyl-Coa Reductase Deficiency
Delayed CNS myelination, Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Choreoatheto... OMIM:616034
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Dysplastic co... OMIM:620317
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Bil... OMIM:612736
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)... OMIM:617665
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystoni... OMIM:615924
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with genera... ORPHA:2590
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Increased level o... OMIM:271980
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... OMIM:607317
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... ORPHA:485350
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Progressive ... ORPHA:248111
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus... OMIM:619470
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Seizure, Gait di... ORPHA:3095
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Oral-pharyngeal dysphagia, Abnormal repetitive mannerisms, Short statu... ORPHA:208447
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-... ORPHA:36387
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Speech apraxia, Short stature, Small for gestational age, Bilateral tonic-clonic seizure, Bilater... OMIM:245570
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Abnormality of extrapyra... OMIM:204300
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Neurodevelopmental Disorder With Involuntary Movements
Delayed CNS myelination, Dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Infanti... OMIM:617493
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Abnormal posturing, Weight loss, Opisthotonus, Seizure, ... ORPHA:216866
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical abse... ORPHA:225147
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination, Ataxia, Short stature, Impulsivity, Abnormality of coordination, Tremor, In... ORPHA:442835
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Impulsivity... OMIM:619028
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:614018
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Difficulty walking, Att... OMIM:619191
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Inability to walk, Focal-onset seizure... ORPHA:330050
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Irritability, Seizure, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Growth delay, Seizure, Dysto... OMIM:612716
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Developmental And Epileptic Encephalopathy 74
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical... OMIM:618396
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Delayed CNS myelination, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, S... OMIM:300423
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Ch... OMIM:619725
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... ORPHA:363710
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Babinski sign, Euphoria, Seizure, Lateral ventricle dilatation, Inappropriat... OMIM:221770
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Delayed CNS myelination, Ataxia, Impulsivity, Inability ... OMIM:617854
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Babinski sign, Hand tremor, Depression, Lateral ventricle dilatation, Dystonia, Spasticit... OMIM:615889
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... OMIM:312080
Late-Infantile/Juvenile Krabbe Disease
Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati... ORPHA:206443
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Seizure, Failure to thrive, Ataxia OMIM:618951
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata... OMIM:617831
Urocanase Deficiency
Broad-based gait, Ataxia, Short stature, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ata... OMIM:276880
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors OMIM:159900
Continuous Spikes And Waves During Sleep
Speech apraxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Fo... ORPHA:725
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoc... OMIM:618497
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... OMIM:616269
Rapid-Onset Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Depression, Gait ataxia, Bradykinesia, ... ORPHA:71517
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Attention defici... OMIM:619556
Spinocerebellar Ataxia, Autosomal Recessive 12
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Limb ataxia, Gait a... OMIM:614322
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus, Fai... OMIM:609056
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Infantile spasms, Tremor, Growth delay, Spasticity OMIM:278780
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M... ORPHA:2382
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Short stature, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski... OMIM:607694
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Short stature, Absent pubertal growth spurt, Bilate... ORPHA:464282
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Generalized-onset seizure, Aggressive beh... ORPHA:228360
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Chorea, Clonic seizure, Focal-o... OMIM:618917
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus,... OMIM:616230
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Inability to walk, Delayed myelination, Athetosis, Irritability, Seizure, Gait disturba... OMIM:618241
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Rigidity, Focal hemiclonic seizure, Chorea, ... OMIM:616981
4H Leukodystrophy
Dystonia, Ataxia, Short stature, Decreased response to growth hormone stimulation test, Hypogonad... ORPHA:289494
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Distal sensory imp... OMIM:609260
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Leukodystrophy, Dysphagia, Loss of am... OMIM:617916
Dravet Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Failure to thrive in infancy, Short stature, Bilateral tonic-clonic seizure, Babinski sig... OMIM:619065
Lissencephaly 4
Short stature, Babinski sign, Growth delay, Seizure, Colpocephaly, Hypertonia, Agenesis of corpus... OMIM:614019
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Lateral ventricle dilatati... OMIM:607596
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Sp... OMIM:615768
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Aggressive behavior, Typical abs... OMIM:616409
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... OMIM:619157
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Hypergonadotropic hypogonadism, Tremor, Focal-onset seizure, Depression, Hemiparesis, Sei... OMIM:614307
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Chorea, Delayed myelination, Irri... ORPHA:79097
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ... OMIM:128235
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Gait imbalance, ... OMIM:301020
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Diffic... ORPHA:306669
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyram... ORPHA:397946
Spinocerebellar Ataxia, Autosomal Recessive 13
Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, Abnormal pyramidal si... OMIM:614831
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Short stature, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, ... OMIM:617836
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait atax... OMIM:618387
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto... OMIM:617284
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Irr... OMIM:261640
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Agenesis of corpus ... ORPHA:401830
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... ORPHA:100988
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ... ORPHA:73256
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Generalized-onset seizure, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness... ORPHA:79263
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Abnormal CNS myelination, D... ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Limb atax... OMIM:213200
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... OMIM:617810
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia,... OMIM:203740
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Incoordination, Tremor, Paraparesis, Babi... OMIM:302800
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking OMIM:613608
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Se... OMIM:617435
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Babinski sign, Spastic paraplegia, Abnormal myelination, Spasticity ORPHA:431329
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, Failure to thrive OMIM:616494
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... OMIM:104290
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Clonic seizure, Gait ataxia, Choreoathetosis, Opisthotonus, Myoclonic seizure, Abnormal repetitiv... OMIM:619580
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Irritability, Leukodystrophy, Dystonia, Loss of ambulation, Intrauterine growth... OMIM:615010
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Tre... ORPHA:90117
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, ... OMIM:614487
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Infantile Cerebellar-Retinal Degeneration
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decreased body weight, Fa... OMIM:614559
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... ORPHA:240103
Myoclonic Epilepsy, Familial Infantile
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... OMIM:605021
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Delayed CNS myelination, ... OMIM:619913
Saccharopinuria
Citrullinuria, Short stature, Tremor, Spastic diplegia, Cystinuria, Distal sensory impairment, Ga... ORPHA:3124
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Short stature, Small for gestational age, Bilateral tonic-clonic seizure, Focal-... ORPHA:289266
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai... ORPHA:93952
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Hyperinsulinemia, Abnormal pyramidal sign... ORPHA:363400
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Myoclonic Epilepsy Of Infancy
Poor motor coordination, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressiv... ORPHA:86909
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Depression, Gait ataxia, Prog... ORPHA:254881
Leukodystrophy, Hypomyelinating, 6
Ataxia, Short stature, Tremor, Rigidity, Choreoathetosis, Seizure, Leukodystrophy, Dystonia, Ocul... OMIM:612438
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Dysmyelinating leukodystrophy, Unsteady g... ORPHA:137898
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Colpocep... ORPHA:401815
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Dysphagia, Degeneration of anterior horn cells, Myoclonus, Ton... OMIM:159950
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Gait ... OMIM:615157
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia... ORPHA:542310
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... OMIM:616795
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Gait disturbance, Ventriculomegaly OMIM:603472
Alg13-Cdg
Clumsiness, Abnormal lateral ventricle morphology, Infantile spasms, Decreased body weight ORPHA:324422
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Segmental peripheral demyelin... ORPHA:255210
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Short stature, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Trun... OMIM:610185
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Dysphagia, Dystonia, Spasticity OMIM:304700
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria, Spast... ORPHA:313772
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Delayed CNS myelination, Multifocal seizures, Ataxia, Severe temper tantrums, Aggressive behavior... OMIM:617710
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait di... ORPHA:98764
Myoclonic-Astatic Epilepsy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Si... ORPHA:1942
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Gait ... OMIM:619092
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait dist... ORPHA:544254
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, Growth delay, Seizure, Dysphagia, Self-mutila... OMIM:619422
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Seizure, Bruxism, Spasticity, ... OMIM:618718
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Growth delay, Hy... OMIM:619738
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Short stature, Tremor, Depression, Truncal ... OMIM:300957
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Symmetric peripheral demyelination, Tremor, Demyelinating motor neur... ORPHA:206594
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... OMIM:606693
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Irritability, Seizure, Dystonia OMIM:612126
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Spasticity ORPHA:33445
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Involuntary movements, Infantile spasms, Cl... OMIM:620352
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non... OMIM:607682
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Sarcosinemia
Ataxia, Bilateral tonic-clonic seizure, Tetraparesis, Hypersarcosinuria, Emotional lability ORPHA:3129
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... ORPHA:53583
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Grow... OMIM:615716
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Short stature, Aggressive behavior, Tremor, Gait ataxia, Seizure, Abdominal obesit... OMIM:300354
Cach Syndrome
Dysmyelinating leukodystrophy, Truncal ataxia, Limb ataxia, Dysmetria, Growth delay, Irritability... ORPHA:135
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Short stature, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, ... OMIM:614381
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Tremor, Rigidity, Choreoathetosis, Irritability, Seizure, Hyperkinetic movements, Dysph... OMIM:233910
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis... ORPHA:240085
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Decreased response to growth hormone stimulation test, Bilateral tonic-clonic seiz... ORPHA:457240
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Aggressive behavior, Tremor, Seizure, Hypogonadism, Myoclonus, Dysphagia, Diabe... ORPHA:97229
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoclonus, Dystonia ORPHA:139485
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, ... OMIM:617145
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Fo... ORPHA:228346
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Inability to walk, Babi... OMIM:617105
Oxoglutaric Aciduria
Ataxia, Short stature, Abnormality of Krebs cycle metabolism, Hydrocephalus, Hypertonia ORPHA:31
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Delayed CNS myelination, Cerebral palsy, Ataxia, Short stature, Ventriculomegaly, Aggressive beha... OMIM:619833
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Tremor, Spastic paraple... OMIM:612164
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia... OMIM:312170
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to... ORPHA:79243
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later... ORPHA:363654
Glutathionuria
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Glutathionuria, Action tremor OMIM:231950
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin... ORPHA:521406
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Tongue thrusting, Lat... ORPHA:77299
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesi... OMIM:607483
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... OMIM:617350
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Short stature, Inability to walk, Dystonic gait, Titubation, Diffi... ORPHA:280210
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure,... OMIM:619428
Ataxia-Telangiectasia
Diabetes mellitus, Short stature, Ataxia, Tremor, Seizure, Gait disturbance, Type II diabetes mel... ORPHA:100
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Depr... ORPHA:282166
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Ri... OMIM:183090
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head tituba... OMIM:618877
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Inabi... ORPHA:168491
Developmental And Epileptic Encephalopathy 47
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Focal-onset seizure, Li... OMIM:617166
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... OMIM:210000
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Short stature ORPHA:1368
Friedreich Ataxia
Impaired vibratory sensation, Diabetes mellitus, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:229300
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Growth delay, Seizure, ... ORPHA:765
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Seizure, Dystonia, Decreased methylmalonyl-CoA mutase activity, Homocystinuria OMIM:277410
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Delayed myelination, T... ORPHA:98794
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Depre... OMIM:137440
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Generalized-onset seizure, Hypergonadotropic hypogonadism, Tremor, ... OMIM:619737
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Growth delay, Seizure... OMIM:615673
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Decreased number of large peripheral myelinated nerve fibers, Chorea, I... OMIM:208920
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Paraparesis, Focal-onset seizure, Choreoathetosis, Myoclo... ORPHA:726
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Slender build, Bilateral tonic-clonic seizure, Chorea, Generalized... OMIM:617600
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb dystonia, Dilated fourth ventricle, Multifocal seizures, Ataxia, Aggressive behavior, Tremor... ORPHA:572798
Den Hoed-De Boer-Voisin Syndrome
Tremor, Abnormal repetitive mannerisms, Ataxia, Overweight, Obesity, Stereotypical hand wringing,... OMIM:619229
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Small for gestational age, Clonus, Short stature, Babinski sign, S... OMIM:619847
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi... ORPHA:101071
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Delayed CNS myelination, Tonic seizure, Focal-onset seizure, Partial agenesis of th... OMIM:619517
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Seizure, Abnormal myelination, Agenesis of corpus callos... ORPHA:85179
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia ORPHA:401835
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Short stature, Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait... ORPHA:1170
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Delayed myelination, Spastic tetr... ORPHA:79351
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... ORPHA:2388
Angelman Syndrome
Tremor, Hyperactivity, Ataxia, Cerebral dysmyelination, Tongue thrusting, Obesity, Seizure, Myocl... ORPHA:72
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Bilateral tonic-clonic seizure, Rigidity... OMIM:619911
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... ORPHA:53351
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Glutaric Acidemia I
Rigidity, Delayed myelination, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Se... OMIM:231670
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Hyperinsulinemia, Increased body weight, Seizure, Agitation, Pancreatic islet-cell hyperp... ORPHA:276608
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Precocious p... ORPHA:845
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... ORPHA:529665
Polymicrogyria Due To Tubb2B Mutation
Focal-onset seizure, Oromotor apraxia, Hemiparesis, Seizure, Lateral ventricle dilatation, Abnorm... ORPHA:300573
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, ... OMIM:614298
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Spastic tetraparesis, Tonic seizure, Infantile spasms, Inability ... OMIM:618012
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Seizure, Lateral ventricle dilatation, Abnormal repe... OMIM:613443
48,Xxyy Syndrome
Ataxia, Hypergonadotropic hypogonadism, Tremor, Obesity, Depression, Seizure, Type II diabetes me... ORPHA:10
Insulinoma
Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Hyperinsulinemia, In... ORPHA:97279
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, Spastic par... ORPHA:329284
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Depression, Bradykinesia, Inappropriate be... OMIM:168605
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Short stature, Aggressive behavior, Tremor, Attention deficit hyperactivity disord... OMIM:618342
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth retardatio... ORPHA:453533
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired pain sensation, Impaired temperature sensation, Tremor, Impaired distal vibration sensat... OMIM:619574
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Failure to thrive in infancy, Spastic tetraparesis, Delayed myelination, Seizure... ORPHA:284417
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... ORPHA:96
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert... OMIM:618056
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Tremor, Seizure, Dysphagia, Failure to thrive, Limb hypertonia OMIM:617162
Spastic Paraplegia 9B, Autosomal Recessive
Short stature, Tremor, Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, Te... OMIM:616586
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Ataxia, Short stature, Tremor, Inability to walk, Limb ataxia, Distal sensory im... OMIM:617675
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Tremor, Hypertonia, Gait disturbance, Photosensitive myoclonic seizure, Type I dia... ORPHA:1192
Hyperlysinemia
Hyperactivity, Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis, Sim... ORPHA:2203
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait, ... OMIM:616505
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Ventriculomegaly, Tremor, Inability to walk, Limb tremor, Seizure, Agenesis... OMIM:218000
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Tonic seizure, Bulimia, Bruxi... OMIM:300912
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Depressio... ORPHA:683
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Spastic paraplegia, Abnormal pyramidal si... OMIM:256850
Spontaneous Periodic Hypothermia
Tremor, Seizure, Ataxia, Gait disturbance ORPHA:29822
D-Glyceric Aciduria
Delayed CNS myelination, Bilateral tonic-clonic seizure, Tongue thrusting, Spastic tetraplegia, O... OMIM:220120
East Syndrome
Salt craving, Ataxia, Generalized-onset seizure, Inability to walk, Seizure, Hyperaldosteronism, ... ORPHA:199343
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Dysphagia, Choreoathetosis, Seizure, Dystonia, Spasticity OMIM:617664
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Seizure, Colpocephaly OMIM:614870
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Lateral ventricle dilatation, Status epilepticus, Failure to thri... OMIM:618606
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Delayed CNS myelination, Spastic tetraparesis, Seizure, Lateral ventricle dilatation, Dystonia OMIM:617668
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral palsy, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Delayed myelina... ORPHA:2148
Slc35A2-Cdg
Failure to thrive in infancy, Short stature, Spastic tetraparesis, Infantile spasms, Precocious p... ORPHA:356961
Classic Phenylketonuria
Tremor, Paraplegia, Depression, Growth delay, Self-injurious behavior, Seizure, Hypertonia, Atten... ORPHA:79254
Sialidosis Type 1
Short stature, Ataxia, Tremor, Slurred speech, Seizure, Aminoaciduria, Gait disturbance, Myoclonus ORPHA:812
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth delay, Bra... ORPHA:70594
Early Infantile Epileptic Encephalopathy
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clo... ORPHA:1934
Familial Infantile Myoclonic Epilepsy
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Si... ORPHA:352582
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Aggressive behavio... ORPHA:488627
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Congenital hypothyroid... OMIM:616973
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Alexander Disease
Diabetes mellitus, Ataxia, Clonus, Tremor, Hypothyroidism, Chorea, Precocious puberty, Abnormal p... ORPHA:58
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa... ORPHA:329308
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, Athetosis, Impaired oropharyngeal swallow response, Myoclonus, Oculomotor apraxia, Atonic... ORPHA:404454
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Bilateral tonic-cloni... OMIM:617281
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Postnatal growth retardation, Inability to walk, Partial agenesis of... ORPHA:300570
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Irritability, Seizure, Te... OMIM:617186
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Infantile ... ORPHA:25
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... OMIM:617988
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, S... OMIM:300894
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Proximal 16P11.2 Microduplication Syndrome
Short stature, Tremor, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, F... ORPHA:370079
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low ... ORPHA:646
Pyruvate Carboxylase Deficiency
Dystonia, Ataxia, Anorexia, Infantile spasms, Tremor, Generalized clonic seizure, Delayed myelina... ORPHA:3008
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ventriculomegaly, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seiz... ORPHA:395
Band Heterotopia
Hydrocephalus, Seizure, Lateral ventricle dilatation, Spasticity, Agenesis of corpus callosum, Ve... OMIM:600348
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, At... ORPHA:2131
Martsolf Syndrome 2
Short stature, Hypogonadotropic hypogonadism, Spastic diplegia, Lateral ventricle dilatation, Dec... OMIM:619420
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... OMIM:618060
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Short stature, Tremor, Irritability, Hypogonadism, Emotional lability, Decreased serum te... OMIM:201100
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Ataxia, Clonus, Involuntary movements, Dystonia, Multifocal seizures, Bilateral t... ORPHA:480864
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Involuntary movements, Babinski sign, Leg dystonia, Ankle clonus, Seizure,... ORPHA:565624
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Abnormal posturing, Failure to thrive, Homocystinuria OMIM:614857
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Obesity, Seizure, Lateral ventr... ORPHA:2822
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Cystathioninuria, Hydrocephalus, Seizure, Abnormality of extrapyramidal motor function, D... OMIM:277400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Delayed CNS myelination, Short stature, Tonic seizure, CNS hypomyel... OMIM:618367
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... OMIM:602481
Halperin-Birk Syndrome
Generalized-onset seizure, Inability to walk, Focal-onset seizure, Spastic tetraplegia, Colpoceph... OMIM:618651
Pediatric-Onset Graves Disease
Hyperactivity, Tremor, Puberty and gonadal disorders, Increased circulating free T3, Thyrotoxicos... ORPHA:525731
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Infantile spasms, Tonic seizure, Focal motor seizure, Myoclonic seizure, Lateral ventricle dilata... OMIM:618890
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generali... ORPHA:501
Congenital Hydrocephalus
Seizure, Colpocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Ddost-Cdg
Short stature, Tremor, Oromotor apraxia, CNS hypomyelination, Seizure, Primary hypothyroidism, Fa... ORPHA:300536
Wolfram Syndrome 1
Diabetes mellitus, Ataxia, Diabetes insipidus, Tremor, Growth delay, Seizure, Dysphagia, Hypothyr... OMIM:222300
Aicardi-Goutieres Syndrome 9
Delayed CNS myelination, Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss... OMIM:619487
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Short stature, Tremor, Inability to walk, Chorea... OMIM:615356
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Adrenal hyperplasia, Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal... ORPHA:369929
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Somatic sensory dysfunction, Abnormal myelination, Abnormal periphe... ORPHA:466768
Distal Deletion 10Q
Ataxia, Short stature, Clonus, Aggressive behavior, Postnatal growth retardation, Unsteady gait, ... ORPHA:96148
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Seizure, Lateral ventricle dilatation, Intrauterine grow... OMIM:617751
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus OMIM:607876
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Seizure, Colpocephaly, Delayed CNS myelination, Infantile spasms OMIM:618731
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Hyperthyroidism, Short stature, Tremor, Dysmetria, Depression, Growt... ORPHA:502423
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
D-2-Hydroxyglutaric Aciduria 1
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclon... OMIM:600721
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Small for gestational age, Severe postnatal growth retardation, Lateral... ORPHA:3078
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Clonus, Tremor, Clonic seizure, Delayed m... OMIM:615574
Congenital Bile Acid Synthesis Defect Type 4
Ataxia, Tremor, Depression, Seizure, Hypogonadism, Type II diabetes mellitus ORPHA:79095
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Delayed CNS myelination, Partial agenesis of the corpus callosum, Spastic paraplegia, Obesity, La... OMIM:617296
Alg2-Cdg
Seizure, Lateral ventricle dilatation, Infantile spasms, Cerebral hypomyelination ORPHA:79326
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Delayed CNS myelination, Tonic seizure, Aggressive behavior, Self-injurious behavi... OMIM:620075
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, P... ORPHA:268943
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Hypergonadotropic hypogonadism, Tremor, Seizure, Status epilepticus, Myoclonus, Dysphagia... OMIM:607426
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Glomus jugular tum... OMIM:605373
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Joubert Syndrome With Renal Defect
Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Oculomotor apraxia, Abnormality of the ... ORPHA:220497
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired proprioception, Abnormal ... OMIM:606002
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Seizure, Positive ... OMIM:105210
Malan Overgrowth Syndrome
Episodic ataxia, Seizure, Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Fumarase Deficiency
Decreased fumarate hydratase activity, Choroid plexus cyst, Aminoaciduria, Status epilepticus, Fa... OMIM:606812
Joubert Syndrome 3
Oculomotor apraxia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia OMIM:608629
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Small for gestational age, Ataxia, Short stature, Aggressive behavior, Bil... OMIM:617799
Ataxia-Telangiectasia
Dystonia, Ataxia, Short stature, Diabetes mellitus, Female hypogonadism, Tremor, Inability to wal... OMIM:208900
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal gr... OMIM:616113
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Hyperactivity, Short stature, Cachexia, Aggressive behavior, Tremor, Obesity, S... ORPHA:85293
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Seizure, Attenti... OMIM:619680
Argininemia
Hyperactivity, Anorexia, Postnatal growth retardation, Irritability, Diaminoaciduria, Progressive... OMIM:207800
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Seizure, Lateral ventricle dilatation, Low frustratio... ORPHA:457279
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Growth delay, Seizure, Hyperkinetic mo... OMIM:616271
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Seizure, Hydrocephalus, Abnormal myelination ORPHA:352682
Gabriele-De Vries Syndrome
Waddling gait, Delayed CNS myelination, Tremor, Lateral ventricle dilatation, Tip-toe gait, Atten... OMIM:617557
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Gait imbalance... ORPHA:2828
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hypera... ORPHA:476126
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Elevated urinary aminoisobutyric acid, Beta-alaninuria, Lateral ventricl... OMIM:614105
Joubert Syndrome With Ocular Defect
Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Oculomotor apraxia, Abnormality of the ... ORPHA:220493
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dysphagia, Sh... OMIM:168600
Methylmalonic Aciduria, Cbla Type
Tremor, Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Seizure OMIM:251100
Aceruloplasminemia
Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri... ORPHA:48818
Leukoencephalopathy With Vanishing White Matter 5
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... ORPHA:447753
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Tremor, Hyperinsulinemia, Increased body weight, Seizure, Agitation, P... ORPHA:263455
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Overweight, Dilated third ventricle, Hydrocephalus, Head-banging, Self-injurious b... OMIM:619575
Japanese Encephalitis
Weakness due to upper motor neuron dysfunction, Bilateral tonic-clonic seizure, Anorexia, Paralys... ORPHA:79139
Cog5-Cdg
Short stature, Delayed myelination, Seizure, Lateral ventricle dilatation, Truncal ataxia, Intrau... ORPHA:263487
Intellectual Developmental Disorder, X-Linked 103
Seizure, Lateral ventricle dilatation OMIM:300982
Joubert Syndrome
Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Oculomotor apraxia, Abnormality of the ... ORPHA:475
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Ataxia, Oral-pharyngeal dysphagia, Postnatal growth retardation, Tremor, Spastic diplegia, Seizur... OMIM:300966
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Seizure, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Pr... ORPHA:512
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dila... OMIM:618914
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Hyperthyroidism, Ataxia, Diabetes mellitus, Tremor, Rigidity, Gait ataxia, Depres... ORPHA:254892
Glutamine Deficiency, Congenital
CNS hypomyelination, Subependymal cysts, Seizure, Lateral ventricle dilatation, Neonatal death OMIM:610015
Citrullinemia Type Ii
Restlessness, Hyperactivity, Abnormal eating behavior, Aggressive behavior, Delayed menarche, Tre... ORPHA:247585
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Ataxia, Tremor, Growth delay, Seizure, Neonatal death, Intrauterine gr... OMIM:614052
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelination, Spasticity OMIM:618527
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotropic hypogonadism, Tr... ORPHA:478
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Short stature, Decreased response to growth hormone stimul... ORPHA:1855
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Short stature, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Seizure, Ab... OMIM:612199
Vici Syndrome
Postnatal growth retardation, Seizure, Abnormal thymus morphology, Dysphagia, Abnormal posturing,... OMIM:242840
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Short stature, Bilateral tonic-clonic seizure with focal onset, Tremor, U... OMIM:614947
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Global Developmental Delay With Or Without Impaired Intellectual Development
Poor fine motor coordination, Lateral ventricle dilatation, Short stature OMIM:618330
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord... ORPHA:99956
Monosomy 18Q
Short stature, Hypothyroidism, Hydrocephalus, Poor coordination, Choreoathetosis, Growth delay, S... ORPHA:1600
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... OMIM:615530
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Large for gestational age, Dysplastic corpus callosum, Self-injurious behavi... ORPHA:544488
Holoprosencephaly 5
Seizure, Lateral ventricle dilatation, Central diabetes insipidus, Hydrocephalus OMIM:609637
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Ataxia, Short stature, Inability to walk, Seizure, Colpocephaly, Dystonia, Failure to thrive OMIM:620083
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Bainbridge-Ropers Syndrome
Failure to thrive, Precocious puberty, Inability to walk, Growth delay, Self-injurious behavior, ... OMIM:615485
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agita... OMIM:607485
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Dystonia, Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadocho... ORPHA:309854
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
X-Linked Intellectual Disability, Wilson Type
Growth delay, Seizure, Lateral ventricle dilatation, Delayed myelination ORPHA:85290
Aicardi-Goutières Syndrome
Ventriculomegaly, Extrapyramidal muscular rigidity, Short stature, Dystonia, Diabetes mellitus, T... ORPHA:51
Dpagt1-Cdg
Epileptic spasm, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Focal motor se... ORPHA:86309
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Irritability, Seizure, Hypertonia, Agitation, Myoclonus ORPHA:43116
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Short stature, Growth delay, Seizure, Abnormal myelination, Intrauterine growth retardation OMIM:617333
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Seizure, Agenesis of corpus callosum OMIM:619955
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Abnormal central motor function, Paralysis, Abn... ORPHA:3385
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Short stature, Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, Frequent falls,... OMIM:619995
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Aggressive behavior, Seizure, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of ... OMIM:619244
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism, Colpocephal... OMIM:609053
Weaver Syndrome
Delayed CNS myelination, Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (a... OMIM:277590
Peroxisome Biogenesis Disorder 5A (Zellweger)
Generalized-onset seizure, Small for gestational age, Athetosis, Colpocephaly, Seizure, Intrauter... OMIM:614866
Cockayne Syndrome A
Short stature, Ataxia, Abnormal peripheral myelination, Tremor, Patchy demyelination of subcortic... OMIM:216400
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Progressive spasticity OMIM:619972
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Growth delay, Seizure, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Friedreich Ataxia 2
Impaired vibratory sensation, Incoordination, Ataxia, Babinski sign, Decreased pyruvate carboxyla... OMIM:601992
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Seizure, Co... OMIM:620113
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Diabetes mellitus, Small for gestational age, Bilateral tonic-cloni... OMIM:619278
Basel-Vanagaite-Smirin-Yosef Syndrome
Aggressive behavior, Inability to walk, Seizure, Lateral ventricle dilatation, Difficulty walking... ORPHA:464738
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:251110
Prader-Willi Syndrome Due To Translocation
Short stature, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:177907
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... OMIM:601104
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Impulsivity, Aggressive behavior, Tremor, Dysplastic corpus callosum, Pin... OMIM:300967
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Tonic seizur... OMIM:615873
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Growth delay, Seizure, Hypertonia, Dysphagia, Neonatal death, Failure t... OMIM:617248
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
16Q24.3 Microdeletion Syndrome
Seizure, Colpocephaly, Ventriculomegaly, Dysphagia ORPHA:261250
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Short stature, Rhizomelic leg shortening, Dilated third ventricle, Rhizomelic a... ORPHA:397715
Gabriele-De Vries Syndrome
Waddling gait, Small for gestational age, Decreased response to growth hormone stimulation test, ... ORPHA:506358
Gaucher Disease
Ataxia, Short stature, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor, Hem... ORPHA:355
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... ORPHA:67045
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hyperactivity, Short stature, Impulsivity, Aggressive beha... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hyperactivity, Short stature, Impulsivity, Aggressive beha... ORPHA:353277
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Khan-Khan-Katsanis Syndrome
Short stature, Colpocephaly, Hypertonia, Dysphagia, Intrauterine growth retardation, Failure to t... OMIM:618460
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
6Q Terminal Deletion Syndrome
Obesity, Dysmetria, Gait ataxia, Seizure, Colpocephaly, Failure to thrive ORPHA:75857
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Small for gestational age, Ataxia, Generalized-onset seizure, Tremor, Partial agenesis ... OMIM:220111
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Seizure, Colpocephaly, Agenesis of corpus callosum, V... OMIM:615219
Keppen-Lubinsky Syndrome
Decreased serum leptin, Spastic tetraparesis, Opisthotonus, Seizure, Lateral ventricle dilatation... OMIM:614098
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Delayed CNS myelination, Short stature, Decreased response to growth hormone stimulation test, Co... OMIM:617260
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Aicardi Syndrome
Epileptic spasm, Delayed CNS myelination, Infantile spasms, Postnatal growth retardation, Precoci... OMIM:304050
Smith-Lemli-Opitz Syndrome
Hyperactivity, Short stature, Aggressive behavior, Precocious puberty, Partial agenesis of the co... OMIM:270400
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Unsteady gait, Seizure, Difficulty walking, Abnormal myelinati... ORPHA:90324
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:353281
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Seizure, Lateral ventricle dilatation, Failure to thrive, Agenesis of... OMIM:300952
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Partial agenesis of the corpus callosum, Disproportionate short stature, Hydrocephalus, Severe po... OMIM:210710
Chromosome 1P36 Deletion Syndrome, Distal
Epileptic spasm, Delayed CNS myelination, Infantile spasms, Aggressive behavior, Hypothyroidism, ... OMIM:607872
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Seizure, Status epilepticus... OMIM:612949
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Maturity-onset diabetes of the young, Tremor, Ir... ORPHA:1578
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Clonus, Delayed myelination, Colpocephaly, Lower limb hypertonia, Oculomotor apraxia ORPHA:477993
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Dysplastic corpus callosum, Colpocephaly, Attention deficit hyperactivity disorder,... OMIM:618820
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Hydrocephalus, Seizure, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, Dandy-Wal... OMIM:613154
Degcags Syndrome
Abnormal myelination, Small for gestational age, Oral-pharyngeal dysphagia, Vocal cord paralysis,... OMIM:619488
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Failure to thrive in infancy, Proportionate short stature, Dysplastic ... ORPHA:500150
Kabuki Syndrome 1
Short stature, Bilateral tonic-clonic seizure with focal onset, Premature thelarche, Postnatal gr... OMIM:147920
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Short stature, Impaired pain sensation, Inability to walk, Abnormal repetitive ... ORPHA:261537
Osteopetrosis, Autosomal Recessive 7
Growth delay, Lateral ventricle dilatation, Hydrocephalus, Hypocalcemic seizures OMIM:612301
Biliary, Renal, Neurologic, And Skeletal Syndrome
Short stature, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Elevated circul... OMIM:619534
Congenital Disorder Of Glycosylation, Type Iim
Delayed CNS myelination, Epileptic spasm, Seizure, Lateral ventricle dilatation, Intrauterine gro... OMIM:300896
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Small for gestational age, Short stature, Lateral ventricle dilatation,... OMIM:619869
Holoprosencephaly 13, X-Linked
Seizure, Colpocephaly, Agenesis of corpus callosum OMIM:301043
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Short stature, Impaired pain sensation, Inability to walk, Abnormal repetitive ... ORPHA:261552
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Abnormal myelination, Dilated ... ORPHA:434179
Genitopatellar Syndrome
Hypothyroidism, Colpocephaly, Agenesis of corpus callosum, Dysphagia OMIM:606170

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 Slc25a12

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 Slc25a12.

No publications found that use IMPC mice or data for Slc25a12.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc25a12tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slc25a12em1(IMPC)Hmgu Exon Deletion Mice
Slc25a12tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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