Gene Summary

Name:
huntingtin
Synonyms:
C430023I11Rik,  IT15,  htt,  HD,  Hdh,  huntingtin

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Httem1(IMPC)H HOM   E9.5 0.00
increased grip strength Httem1(IMPC)H HET Early adult 1.22×10-05
preweaning lethality, complete penetrance Httem1(IMPC)H HOM   Early adult 0.00

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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Htt 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 predicted to be associated to Htt by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Seizure, Dilated third ven... ORPHA:363654
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:615006
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Seizure, Gait disturbance, Bilateral ton... OMIM:300423
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Chorea, Seizure, Gait ataxia, Rigi... ORPHA:248111
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Atrophy/Degeneration affecting the brainstem, Truncal ataxia, Cerebellar atro... OMIM:616230
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Seizure, Shuffling gait, Rigidity... OMIM:615528
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Generalized myoclonic seizure, Myoclonic status epilepticus, Truncal ataxia, Ce... OMIM:611726
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Bradykinesia, Babinski sign, Hypertonia, Limb ataxia, Seizure, Thalamic calcification, Limb dysto... OMIM:618824
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Global brain atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic ... OMIM:613721
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Increased neuronal autofluorescent li... OMIM:162350
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Unsteady gait, Parkinsonism, Abnormal pyramidal sign, P... ORPHA:210571
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Bilateral tonic-clonic seizure, Tonic sei... OMIM:616346
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Cerebral atrophy, Focal-onset seizure, Bilateral tonic-clonic seizure, Increased neuronal autoflu... OMIM:204300
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the p... OMIM:617542
Dravet Syndrome
Cerebral atrophy, Generalized clonic seizure, Generalized non-motor (absence) seizure, Generalize... OMIM:607208
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Lateral ventricle ... ORPHA:306669
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... OMIM:128230
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Tremor, Gait disturbance, Kinetic tremor, Ventriculomegaly OMIM:611808
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Abnormal brainstem morphology, Polymi... ORPHA:300573
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Seizure, Gait disturbance, Rigidity,... OMIM:213600
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset... ORPHA:36387
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Gait disturbance, Dyst... OMIM:614561
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Hypoplasia of the brainstem, Death in infancy, Cerebral hypoplasia, Lateral ven... OMIM:618266
Developmental And Epileptic Encephalopathy 34
Cerebral atrophy, Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure... OMIM:616645
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Spinocerebellar Ataxia 17
Limb ataxia, Bradykinesia, Apraxia, Broad-based gait, Neuronal loss in central nervous system, Gl... OMIM:607136
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Glut1 Deficiency Syndrome 1
Babinski sign, Paroxysmal dystonia, Spasticity, Seizure, Hemiparesis, Ataxia, Myoclonus, Paralysi... OMIM:606777
Caribbean Parkinsonism
Bradykinesia, Apraxia, Action tremor, Rigidity, Dystonia, Parkinsonism, Myoclonus, Weakness due t... ORPHA:97355
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Neuronal loss i... OMIM:615362
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Increased neuronal autofluo... OMIM:610003
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Seizure, Craniofacial dystonia, Limb dystonia, Gait at... ORPHA:71517
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Dilated third ventricle, Cogwheel rigid... OMIM:619725
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Fo... ORPHA:599373
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Inability to walk, Seizure, Tremor, Ventriculomegaly OMIM:619561
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Focal motor seizure, Seizure, Bilateral... OMIM:619911
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Huntington Disease
Bradykinesia, Neuronal loss in central nervous system, Gliosis, Seizure, Cerebellar atrophy, Chor... OMIM:143100
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-c... OMIM:617836
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Global brain atrophy, Apraxia, Neuronal loss in central nervous system, Gliosis, Se... OMIM:221820
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Seizure, Shuffling gait, Gait ataxia, ... ORPHA:391411
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Seizure, Hemiparesis, Dystonia, Ataxia, Extrapyramidal d... ORPHA:71277
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:616710
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Babinski sign, Limb ataxia, Lower limb spasticity, Gait disturbance, Spastic parapl... OMIM:618418
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Truncal ataxia, Episodic ataxia... OMIM:607682
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Huntington Disease-Like 2
Chorea, Gait disturbance, Involuntary movements, Cerebral cortical atrophy, Dystonia, Parkinsonis... ORPHA:98934
Autosomal Dominant Spastic Paraplegia Type 3
Spastic gait, Babinski sign, Bradykinesia, Tip-toe gait, Lower limb spasticity, Frequent falls, G... ORPHA:100984
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:619191
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... OMIM:617018
Febrile Seizures, Familial, 11
Hippocampal atrophy, Febrile seizure (within the age range of 3 months to 6 years), Focal impaire... OMIM:614418
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Dravet Syndrome
Epilepsia partialis continua, Focal-onset seizure, Incoordination, Action tremor, Atypical absenc... ORPHA:33069
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:101150
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Seizure, Tremor, Ataxia OMIM:213000
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Chorea, Thalamic calcification, Dystonia, Ataxia, Parkinsonism, Abnormal pyramidal ... OMIM:618317
Developmental And Epileptic Encephalopathy 37
Cerebral atrophy, Hyperkinetic movements, Chorea, Spasticity, Cerebellar atrophy, Gait disturbanc... OMIM:616981
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness... OMIM:619970
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Cerebellar vermis atrophy, Gliosis, Tremor, Incoordination, Spasticity, Gait ataxia,... OMIM:213200
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Dystonia, At... OMIM:618425
Cerebellar Ataxia, Cayman Type
Bradykinesia, Broad-based gait, Truncal ataxia, Intention tremor, Gait ataxia, Dystonia, Ataxia OMIM:601238
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Dysplastic corpus callosum, Inability to walk, Seizure, Spasticity, Bilateral tonic-clonic seizur... OMIM:620317
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Athetosis, Cerebellar atr... OMIM:618141
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Bradykinesia, Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign OMIM:619052
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Gait ataxia, Fre... OMIM:616540
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Tremor... OMIM:614018
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Bilateral ton... OMIM:617862
Episodic Ataxia, Type 5
Typical absence seizure, Truncal ataxia, Episodic ataxia, Bilateral tonic-clonic seizure, Atypica... OMIM:613855
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Primary micro... OMIM:614019
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Axonal degeneration, Fasciculations, Gliosis, Tetraplegia, Gait distur... OMIM:604484
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Low-set ears, Colpocephaly, Pachygyria OMIM:614870
Centralopathic Epilepsy
Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset OMIM:117100
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Seizure, Tremor, Rigidity, Dystonia, Ataxia, Parkinson... OMIM:261640
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Failure to thrive, Ataxia, CNS hypomyelination, Leukodystrophy OMIM:616494
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Tremor, Cerebellar atrophy, Gait disturbance, G... OMIM:618090
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis, Difficulty walking OMIM:608634
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Bilateral tonic-clonic seizure, Ga... OMIM:618587
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Band Heterotopia
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Subcort... OMIM:600348
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Huntington Disease-Like 1
Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Seizure, Frequent falls, Gait... ORPHA:157941
Dystonia 16
Bradykinesia, Generalized dystonia, Retrocollis, Limb dystonia, Involuntary movements, Gait distu... OMIM:612067
Developmental And Epileptic Encephalopathy 112
Cerebral atrophy, Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure... OMIM:620537
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Diaminopentanuria
Seizure, Neurodegeneration, Ataxia OMIM:222350
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Inability to walk, Infantile spasms, Spasticity, Bilateral tonic-clonic seizure... OMIM:619701
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Tip-toe gait, Oromandibular dystonia, Gait disturbance, Rigidity, Dystonia, Spastic... OMIM:615643
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Falls, Resting tremor, Gait ataxia, Spastic paraplegia, Ataxia, Park... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Babinski sign, Lower limb spasticity, Cerebellar vermis atrophy, Spasticity, Cerebel... OMIM:614322
Tubulinopathy-Associated Dysgyria
Abnormal brainstem morphology, Dysgyria, Abnormality of the internal capsule, Abnormal thalamus m... ORPHA:467166
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Cachexia, Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait... OMIM:618093
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation ORPHA:217012
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Hypertonia, Oculogyric crisis, Limb hypertonia, Broad-based gait, Dystonia, Parkins... OMIM:617384
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Bilateral tonic-clonic seizure OMIM:619639
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon... OMIM:618924
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Seizure, Dystonia, Unsteady gait, Ankle clonus, Abn... OMIM:617435
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... ORPHA:240085
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait imbalance, Torticollis, Gliosis, Spasticity, Cerebellar atrophy, Gait disturbance, Gait atax... OMIM:618369
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:616409
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Seizure, Cerebellar atrophy, Bilateral tonic-cloni... OMIM:301020
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Thick cerebral cortex, Lateral ventricle dilatation, Cerebral hypoplasia ORPHA:101071
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atroph... OMIM:620453
Developmental And Epileptic Encephalopathy 98
Cerebral atrophy, Focal-onset seizure, Cerebellar atrophy, Refractory status epilepticus, Bilater... OMIM:619605
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Developmental And Epileptic Encephalopathy 59
Inability to walk, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Focal... OMIM:617904
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Death in infancy, Microcephaly, Cerebral cortical atrophy, Abnormal cerebral white matter morphol... OMIM:617668
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Bilateral tonic-clonic seizure, Gait disturbance, Spastic p... ORPHA:100988
Martsolf Syndrome 2
Microcephaly, Macrotia, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619420
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig... ORPHA:53351
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Neuronal loss in central nervous syst... OMIM:610245
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia OMIM:620448
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:615400
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Low-set ears, Decreased thalamic volume, Microcephaly, Cerebra... OMIM:619072
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At... OMIM:617113
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Difficulty walking, Focal-onset seizure, Inability to walk, Oculog... ORPHA:330050
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Difficulty walking, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Athetosis, Dystonia, Paralysis, Amyotrophic lateral sclerosis OMIM:300857
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Brain atrophy, Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Failure to... ORPHA:369939
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Microphthalmia-Brain Atrophy Syndrome
Atrophy/Degeneration affecting the brainstem, Corpus callosum atrophy, Microcephaly, Diffuse cere... ORPHA:77299
Progressive Myoclonic Epilepsy Type 3
Cerebral atrophy, Focal myoclonic seizure, Photosensitive myoclonic seizure, Progressive cerebell... ORPHA:263516
Chromosome 15Q11-Q13 Duplication Syndrome
Truncal ataxia, Seizure, Unsteady gait, Bilateral tonic-clonic seizure OMIM:608636
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure, Dystonia, Episodic quadriplegia, Choreoathetosis, Episodic hemipl... OMIM:104290
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Huntington Disease
Bradykinesia, Babinski sign, Difficulty walking, Decreased body mass index, Gait imbalance, Inabi... ORPHA:399
Leukoencephalopathy With Vanishing White Matter 5
Megalencephaly, Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventr... OMIM:620315
Developmental And Epileptic Encephalopathy 13
Cerebral atrophy, Generalized clonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:614558
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls, Unsteady gait OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Torticollis, Gait ataxia, Limb myoclonus, Postural tremor OMIM:619862
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Hereditary Methemoglobinemia
Global brain atrophy, Frontal cortical atrophy, Athetosis, Cerebellar atrophy, Delayed myelinatio... ORPHA:621
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Falls, Abnormality of extrap... ORPHA:13
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Inability to walk, Apraxia, Spasticity, Tremor, Cerebell... OMIM:617810
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical abs... OMIM:617350
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking OMIM:158580
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Inability to walk, Lower limb spasticity, Oromotor apraxia, Broad-based gait, Spast... OMIM:617854
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Spasticity, Parkinsonism with fav... OMIM:606693
Schizophrenia 15
Hyperactivity OMIM:613950
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre... OMIM:616053
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia, Weight loss OMIM:606438
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Chorea, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic sei... OMIM:616139
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Cerebellar vermis atrophy, Tremor, Myoclonus, Gait dis... ORPHA:363710
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Seizure, Tremor, Cerebral palsy, Rigidity, Dyst... ORPHA:70594
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Migraine, Familial Hemiplegic, 1
Seizure, Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Gliosis, Seizur... OMIM:221770
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ... ORPHA:93952
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Convu... OMIM:617389
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Gai... OMIM:615957
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Abnormal periventricular white matter morphology, Dilated fourth ventricle, Abnorma... OMIM:613443
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia, Lethargy OMIM:618683
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Global brain atrophy, Inability to walk, Broad-based gait, Infantile spasms, Bilateral tonic-clon... OMIM:618470
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Low-set ears, Agenesis of corpus callosum OMIM:617127
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Salt And Pepper Developmental Regression Syndrome
Global brain atrophy, Bilateral tonic-clonic seizure, Failure to thrive, Myoclonus, Status epilep... OMIM:609056
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Ataxia, Agenesis of corpus callosum, Spastic tetraplegia... OMIM:611603
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Charcot-Marie-Tooth Disease, Type 4A
Distal sensory impairment, Axonal degeneration, Basal lamina onion bulb formation, Decreased numb... OMIM:214400
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral atrophy, Epileptic spasm, Hyperkinetic movements, Inability to walk, Seizure, Bilateral ... OMIM:618497
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera... ORPHA:101046
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Falls, Shuffling gait, Parkinsonism, Short stepped shuffling gait ORPHA:412066
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Action tremor, Head tremor, Upper lim... ORPHA:98769
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum, Hypoplasia... ORPHA:250972
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Developmental And Epileptic Encephalopathy 42
Hypertonia, Athetosis, Tremor, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:617106
Joubert Syndrome 3
Molar tooth sign on MRI, Thin corpus callosum, Elongated superior cerebellar peduncle, Frontal po... OMIM:608629
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Dystonia, Ataxia, Myoclonus, Failure to thrive in ... OMIM:619065
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, S... OMIM:618877
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Chorea, Seizure, Ath... ORPHA:382
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Seizure, Tremor, Shuffling ga... OMIM:300055
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Hyperkinetic movem... OMIM:619317
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor... ORPHA:275872
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Dystonia 31
Abnormal posturing, Difficulty walking, Dysphagia, Depression OMIM:619565
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Limb tremor, Agenesis of ... ORPHA:401820
Developmental And Epileptic Encephalopathy 14
Generalized tonic seizure, Neuronal loss in central nervous system, Gliosis, Focal motor seizure,... OMIM:614959
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus ... ORPHA:166024
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Inability to walk, Gliosis, Seizure, Infantile spasms, Bilateral tonic-clonic s... ORPHA:79243
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Hypoplasia of the pons, Basal ganglia gliosis, Microcephaly, Hypo... OMIM:607596
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Spasticity, Bilateral tonic-clonic seizure, Gait ataxia, Tonic seizure, ... OMIM:620145
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Seizure, Tremor, Cerebellar atrophy, Spasticity, Freq... OMIM:607317
Waisman Syndrome
Bradykinesia, Resting tremor, Seizure, Parkinsonism with favorable response to dopaminergic medic... OMIM:311510
Congenital Hydrocephalus
Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Sensorineural hearing impairment, Small... ORPHA:2185
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Focal-onset seizure, Inability to walk, Chorea, Spasticity, Cerebellar atrophy,... OMIM:618917
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Leukoencephalopathy, Progressive, With Ovarian Failure
Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr... OMIM:615889
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Spastic gait, Focal-onset seizure, Seizure, Infantile sp... OMIM:620540
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal o... OMIM:612691
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:619279
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Lateral ventricle dilatation OMIM:300982
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the corpus callosum, Enlarged tectum, Low-set ears, Hypoplastic anterior commissure... OMIM:618325
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Bilateral tonic-clonic seizure, Spastic paraplegia, Dysto... ORPHA:53583
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Agenesis of the anterior commis... ORPHA:300570
Neurodevelopmental Disorder With Involuntary Movements
Cerebral atrophy, Hyperkinetic movements, Atrophy/Degeneration affecting the brainstem, Infantile... OMIM:617493
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Falls, Bilateral tonic-clonic seizure, Atypic... ORPHA:2382
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin corpus callosum, Death in childhood, Microcephaly, Lateral ventricle dilatation, Partial age... OMIM:619517
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in c... ORPHA:204
Leber Optic Atrophy And Dystonia
Bradykinesia, Spasticity, Athetosis, Upper motor neuron dysfunction, Dystonia OMIM:500001
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Babinski sign, Focal-onset seizure, Progressive extrapyramidal muscular rigidity, C... ORPHA:225147
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb ataxia, Truncal ataxia, Cerebellar atrophy, CNS hypomyelination, Leukodystrophy OMIM:617560
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Athetosis, Cerebellar atrophy, Decreased body weight, Bilateral tonic-clonic... OMIM:614559
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Developmental And Epileptic Encephalopathy 99
Frontotemporal cerebral atrophy, Generalized non-motor (absence) seizure, Eyelid myoclonus, Focal... OMIM:619606
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Intellectual Developmental Disorder, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Recurrent otitis media, Cerebellar vermis hypoplasia, Sensor... OMIM:617751
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, Failure to thrive, Cerebellar atrophy, Cerebral hypomyelination OMIM:300475
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Alg2-Cdg
Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, Microcephaly, Lat... ORPHA:79326
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Difficulty walking, Myoclonic status epilepticus... ORPHA:2590
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Babinski sign, Spasticity, Shuffling gait, Frequent falls, Gait disturbance, Rigidi... ORPHA:289560
Infantile Dystonia-Parkinsonism
Bradykinesia, Hypertonia, Limb hypertonia, Oculogyric crisis, Chorea, Cerebral palsy, Dystonia, P... ORPHA:238455
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Leukodystrophy, Hypomyelinating, 15
Cerebral atrophy, Athetosis, Cerebellar atrophy, Failure to thrive, Ataxia, CNS hypomyelination, ... OMIM:617951
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Difficulty walking, Lethargy OMIM:613710
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Neuronal loss in central nervous system, Seizure, Tremor, Spasticity, Dystonia,... OMIM:615924
Oxoglutarate Dehydrogenase Deficiency
Falls, Bilateral tonic-clonic seizure, Gait ataxia, Rigidity, Dystonia, Unsteady gait, Dysmetria OMIM:203740
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Foxg1 Syndrome
Difficulty walking, Focal-onset seizure, Inability to walk, Hyperkinetic movements, Infantile spa... ORPHA:561854
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:607745
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se... ORPHA:98820
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal... OMIM:606159
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, Seizure, Cerebellar atrophy, Bilateral ton... ORPHA:488635
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis OMIM:300894
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Impaired distal proprioception, Demyelinating peripheral neuropathy, Impaired distal vibration se... OMIM:619742
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Ataxia, Abnormal pyram... ORPHA:79262
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Neuroferritinopathy
Bradykinesia, Babinski sign, Abnormal thalamic MRI signal intensity, T2 hypointense thalamus, Dif... ORPHA:157846
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Lateral ventricle dilatation OMIM:616816
Pelizaeus-Merzbacher Disease
Global brain atrophy, Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelinat... OMIM:312080
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Seizure, Bilatera... OMIM:619157
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Steppage gait, Focal myoclon... ORPHA:98818
Hemimegalencephaly
Epileptic spasm, Gliosis, Focal motor seizure, Seizure, Focal tonic seizure, Hemiparesis, Atonic ... ORPHA:99802
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:608105
Intellectual Developmental Disorder, Autosomal Dominant 5
Brain atrophy, Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Chorea, Generalized-onset seizure, Bilateral tonic-cloni... ORPHA:79137
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Bradykinesia, Truncal ataxia, Incoordination, Seizure, Episodic ataxia, Gait ataxia, Hemiparesis,... OMIM:601338
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral cort... OMIM:613477
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Hypoplasia of the pons, Microcephaly, Agenesis of corpus callosum, Lat... OMIM:618736
Developmental And Epileptic Encephalopathy 91
Cerebral atrophy, Epileptic spasm, Focal motor seizure, Seizure, Bilateral tonic-clonic seizure, ... OMIM:617711
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Neuron... OMIM:604218
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Subependymal cysts, Low-set ears, Neonatal death, Lateral vent... OMIM:610015
Kohlschutter-Tonz Syndrome
Cerebral atrophy, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure... OMIM:226750
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, Cerebellar atrophy, Ataxia, CNS hypomyelination, Leukodystrophy ORPHA:527497
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Abnormal brainstem morphology, Decreased... ORPHA:370959
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Gait disturbance, Gait ataxia, Aggress... ORPHA:98764
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Limb ataxia, Babinski sign, Difficulty walking, Hypertonia, Spastic dysarthria, Low... ORPHA:251282
Developmental And Epileptic Encephalopathy 93
Cerebral atrophy, Focal-onset seizure, Inability to walk, Infantile spasms, Cerebellar atrophy, B... OMIM:618012
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Gait imbalance, Falls, Freezing of gait, Unsteady gait, Loss of ambulation, Short stepp... ORPHA:240094
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Short corpus callosum OMIM:619972
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Seizure, Generalized-onset sei... OMIM:617976
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Seizure, Tremor, Impaired vibration sensation... OMIM:600363
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Null Syndrome
Demyelinating peripheral neuropathy, CNS hypomyelination, Ataxia, Peripheral demyelination ORPHA:280234
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Secondary microcephaly, Diffuse cerebral atrophy, Hypoplasia of the brainstem, Decreased thalamic... OMIM:613668
Alg13-Cdg
Clumsiness, Abnormal lateral ventricle morphology, Infantile spasms, Decreased body weight ORPHA:324422
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Gait ataxia, CNS dem... ORPHA:217260
Global Developmental Delay With Or Without Impaired Intellectual Development
Low-set ears, Lateral ventricle dilatation OMIM:618330
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... OMIM:615768
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Generalized myoclonic seizure, Difficulty walking, Focal myoclonic seizure, Low... ORPHA:464282
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Seizure, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lip... OMIM:204200
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Large earlobe, Thin corpus callosum, Microcephaly, Lateral ventricle dilatation OMIM:615716
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequent falls, Gait... ORPHA:102
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Spinocerebellar Ataxia 10
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Abn... OMIM:603516
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Broad-b... ORPHA:227510
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal brainstem morphology, Abnormal basa... ORPHA:255182
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... OMIM:613908
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Obesity, Ataxia, Aggressive behavior OMIM:620270
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Abnormality of extrapyramidal motor function, Gliosis, Seizure, Cerebellar ... OMIM:236792
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Hypoplasia of the pons, Microcephal... OMIM:618606
Cach Syndrome
Globus pallidus hypointensity on susceptibility-weighted imaging, T2 hypointense thalamus, Cerebr... ORPHA:135
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hydrocephalus, Seizure, Tremor, Spastic tetraparesis OMIM:619470
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic se... ORPHA:140927
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Chorea, Seizur... OMIM:617672
Adams-Oliver Syndrome 2
Hydrocephalus, Low-set ears, Retrocerebellar cyst, Lateral ventricle dilatation, Protruding ear, ... OMIM:614219
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Dysdiadochokinesis, Spasticity, Cerebellar atr... OMIM:614487
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Sensorineural hearing impairment, Cerebellar atr... OMIM:616602
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu... OMIM:600638
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Gait ataxia, Acti... OMIM:300623
Malignant Migrating Focal Seizures Of Infancy
Cerebral atrophy, Epileptic spasm, Inability to walk, Focal emotional seizure with laughing, Bila... ORPHA:293181
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Unsteady gait, Loss of ambulation, Ataxia, Dysmetria OMIM:617917
Perry Syndrome
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Short stepped shuf... OMIM:168605
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Dilated third ventricle, Low-set ears, Corpus callosum atrophy, Microcephaly, S... OMIM:619244
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid... ORPHA:98763
Developmental And Epileptic Encephalopathy 79
Frontotemporal cerebral atrophy, CNS hypomyelination, Cerebral cortical atrophy OMIM:618559
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation OMIM:618890
Spinocerebellar Ataxia Type 1
Bradykinesia, Progressive cerebellar ataxia, Gait imbalance, Fasciculations, Chorea, Dysdiadochok... ORPHA:98755
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Brain atrophy, Seizure, Tremor, Cerebellar atrophy, Generalized-onset seizure, ... ORPHA:79263
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Gait disturbance, Cognitive impairment, Dysp... ORPHA:216866
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequent falls, Gait... ORPHA:98933
Porphyria, Acute Hepatic
Paralysis, Failure to thrive, Respiratory paralysis OMIM:612740
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor... OMIM:302500
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Foca... OMIM:617935
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Generalized myoclonic seizure, Cerebellar atrophy, Ataxia, Neurodegeneration OMIM:610951
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Hydrocephalus... ORPHA:363717
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination, Small for gestational age OMIM:618910
Paganini-Miozzo Syndrome
Low-set ears, Microtia, Posteriorly rotated ears, Lateral ventricle dilatation OMIM:301025
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare... ORPHA:726
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebral atrophy, Generalized non-motor (absence) seizure, Babinski sign, Cerebellar vermis atrop... OMIM:618170
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Seizure, Tremor, Ataxia OMIM:618951
Dystonia 23
Writer's cramp, Torticollis, Axial dystonia, Limb dystonia, Head tremor, Gait disturbance, Myoclonus OMIM:614860
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Focal-onset seizure, Inability to walk, Cerebellar atrophy, Tonic seizure, Bilateral... OMIM:617166
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Cerebellar ... OMIM:619028
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz... OMIM:616421
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:616341
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Simple febrile seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:352582
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Seizure, Cerebellar atrophy, ... OMIM:256600
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Cerebral cortical atrophy, Ataxia, CNS hypomyelination, Leukodystrophy, Dysme... OMIM:607694
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Seizure, Cerebellar atrophy, Cerebral cortical atrophy, Limb tremor, Loss of ... OMIM:256731
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Seizure, Gliosis, Tremor, Spasticity, Gait disturbance, Truncal obesity, ... OMIM:300957
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Seizure, Gait ataxia, Dilated fourth ventricle, At... OMIM:614831
Autosomal Recessive Progressive External Ophthalmoplegia
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Shuffling gait, Co... ORPHA:254886
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Seizure, Tremor, Cerebellar atrophy, Spasticity, Bilatera... ORPHA:529665
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Axial dystonia... OMIM:612953
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Spastic Paraplegia 50, Autosomal Recessive
Babinski sign, Limb hypertonia, Seizure, Gliosis, Cerebellar atrophy, Cerebral palsy, Ataxia, Spa... OMIM:612936
Xeroderma Pigmentosum, Complementation Group G
Infantile spasms, Spasticity, Tremor, Ataxia, Small for gestational age OMIM:278780
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Failure to thrive, Motor stereotypy, Small for gestational age, Aggre... OMIM:609425
Postencephalitic Parkinsonism
Bradykinesia, Babinski sign, Akinesia, Oculogyric crisis, Resting tremor, Tremor by anatomical si... ORPHA:97349
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, Broad-based gait, Focal motor seizure, Seizure, Action t... OMIM:617665
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria OMIM:607458
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Seizure, Tremor, Spastic paraplegia, Failure... ORPHA:477673
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, S... OMIM:271980
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem, Status epilepticus, Bila... OMIM:620200
Tremor-Ataxia-Central Hypomyelination Syndrome
Impaired distal proprioception, Positive Romberg sign, Impaired vibration sensation in the lower ... ORPHA:447896
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Cerebellar vermis hypoplasia, Abnormal pinna morphology, Lateral ventricle ... OMIM:618291
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Agenesis of corpus callosum... OMIM:616239
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic gait, Cerebral atrophy, Bilateral tonic-clonic seizure, Gait ataxia, Spastic paraplegia, ... OMIM:615031
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
CNS hypomyelination, Ataxia OMIM:619688
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Spastic Ataxia 2, Autosomal Recessive
Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro... OMIM:611302
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo... OMIM:604326
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Inability to walk, Chorea, Dystonia, Convulsive status epilepticus OMIM:618760
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Abnormal caudate nucleus morphology, Abnormal globus pallidus morph... ORPHA:397725
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Lower limb spasticity, Ch... ORPHA:485350
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Apraxia, Tetraparesis, Neuronal loss in central nervous system, Gliosis, Parapa... OMIM:105550
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Frequent fall... ORPHA:216873
Dystonia 3, Torsion, X-Linked
Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Spastic dysarthria, Oculomotor apraxia, Dysdiadochokinesis, Spasti... ORPHA:313772
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Ataxia, CNS hypom... OMIM:614381
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:619302
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Paroxysmal dystonia, Seizure, I... ORPHA:466722
Kaya-Barakat-Masson Syndrome
Cerebral atrophy, CNS hypomyelination, Cerebellar atrophy OMIM:619125
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions, Sensorineural hearing impairment, Abnorma... ORPHA:557003
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Simplified gyral pattern, La... ORPHA:284417
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Seizure, Gliosis, Tremor, Bilateral tonic-clonic seizure, Gait disturbanc... ORPHA:457240
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification, Tinnitus ORPHA:73256
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, Dystonia, Loss of ambul... OMIM:168601
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Shuffling gait, Frequent falls, ... ORPHA:75567
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Hypertonia, Astrocytosis, Spasticity, Myoclonus, Spastic tetraparesis, Gait distur... ORPHA:225154
Spinocerebellar Ataxia Type 13
Bradykinesia, Limb ataxia, Difficulty walking, Torticollis, Seizure, Titubation, Gait ataxia, Myo... ORPHA:98768
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Chorea, Cerebellar atrophy, Delayed myelination, Ataxia, Cerebra... ORPHA:79097
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Difficulty walking OMIM:605285
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:619301
Hsd10 Disease
Seizure, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Ventriculomegaly, Spastic parapar... ORPHA:391417
Slc35A2-Cdg
Cerebral atrophy, Hypoplasia of the corpus callosum, Sensorineural hearing impairment, Atrophy/De... ORPHA:356961
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral atrophy, Bab