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 1.07×10-05

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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.

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
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Status epilepticus ORPHA:22
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Action tremor, Parkinsonism, Thin corpus cal... OMIM:300423
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Hyperintensity of cerebral white matter on MRI, Dementia, Cognitive impairment OMIM:618564
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Substantia nigra gliosis, Rigidity, Gait ... OMIM:600116
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Dilated third ventricle, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Sc... ORPHA:363654
Glioma Susceptibility 1
Astrocytoma, Ependymoma, Glioblastoma multiforme OMIM:137800
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Juvenile Huntington Disease
Dystonia, Abnormal cerebral white matter morphology, Bradykinesia, Ataxia, Ventriculomegaly, Prog... ORPHA:248111
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait d... OMIM:614561
Microcephaly 25, Primary, Autosomal Recessive
Microcephaly, Attention deficit hyperactivity disorder, Hypoplasia of the corpus callosum OMIM:618351
Spinocerebellar Ataxia Type 20
Cerebral calcification, Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention trem... ORPHA:101110
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Generalize... OMIM:611726
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradyki... ORPHA:98762
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Thalamic calcification, Generalized dystonia, Bradykinesia, Limb dystonia, Rigidity... OMIM:618824
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Abnormal caudate nucleus morphology, Bradykinesia, Rigidity, Diffuse cerebral atrophy, ... ORPHA:314632
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Cerebral atrophy, Parkinsonism, Dystonia, Progressive microcephaly, Hyperintensity ... ORPHA:521406
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Huntington Disease-Like 2
Caudate atrophy, Memory impairment, Weight loss, Abnormal cerebral morphology, Dementia, Cerebral... ORPHA:98934
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Shuffling gait, Global brain atrophy, Apraxia, Bradyki... OMIM:221820
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Dravet Syndrome
Cerebral atrophy, Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced s... OMIM:607208
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Unsteady gait, Torticollis, P... ORPHA:210571
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Ata... OMIM:261640
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Caribbean Parkinsonism
Action tremor, Dystonia, Parkinsonism, Apraxia, Bradykinesia, Ventriculomegaly, Weakness due to u... ORPHA:97355
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Lethargy, Paroxysmal lethargy, Spasticity, Paroxysmal dystoni... OMIM:606777
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Dystonia, Parkinsonism, Intention tremor, Apraxia, Bradykinesia, A... OMIM:607136
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Cerebral cortical hemiatrophy, Dystonia, Bradykinesia, Hemiparesis, Dilation of lat... ORPHA:306669
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Progressive microcephaly OMIM:608443
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Atonic seizure, Generalized-onset seizure, Generalized cerebral atrophy/hypoplasi... ORPHA:36387
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Focal impai... OMIM:610003
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... OMIM:615400
Epilepsy, Familial Temporal Lobe, 8
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... OMIM:616461
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Dilated third ventricle, Bradykinesia, ... OMIM:619725
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Ventriculomegaly, Epileptic spasm, Seizure, Tremor OMIM:619561
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Diffuse cerebral atrophy, Gait disturbance, Leukoencephalopathy, Babinski sig... OMIM:300660
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Gliosis, Gait ataxia, Spasticity, Torticollis OMIM:618369
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Spasticit... OMIM:128230
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly, Gait disturbance, Tremor OMIM:611808
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Spastic gait, Abnormal pyramidal sign, Bradykinesia, Hemidystonia, Focal T2... OMIM:619052
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Low-set ears, Aplasia/Hypoplasia of the cerebellar vermis, Posterior... OMIM:300864
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Dysdiadochokinesis, Symmetric lesions of the basal ganglia, Bradyki... OMIM:609161
Lopes-Maciel-Rodan Syndrome
Ankle clonus, Cerebral atrophy, Abnormal pyramidal sign, Hypertonia, Dystonia, Caudate atrophy, B... OMIM:617435
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Small for gestational age, Microcephal... OMIM:615095
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Ataxia, Gait ataxia, Generalized non-motor (absence) seizure, Foca... OMIM:617831
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Gait ataxia, Gen... OMIM:618587
Developmental And Epileptic Encephalopathy 34
Cerebral atrophy, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Inab... OMIM:616645
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Inability to walk, Ataxia, Microcephaly, Generalized myoclonic-atonic seizure, ... OMIM:619701
Rare Non-Syndromic Intellectual Disability
Cerebral atrophy, Dystonia, Hypoplastic hippocampus, Seizure, Microcephaly, Spasticity, Dysgenesi... ORPHA:101685
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Low-set ears, Microcephaly, Decreased thalamic volume, Simplified gyral pattern, Hypoplasia of th... OMIM:619072
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, CNS hypomyelination, Ataxia, Leukodystrophy, Failure to thrive, Hypoplasia of... OMIM:616494
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Progressive microcephaly, Extrapyramidal dyskinesia, Choreoathetosis, Apraxi... ORPHA:71277
Neurodegeneration With Brain Iron Accumulation 6
Hypoplasia of the corpus callosum, Dystonia, Spastic tetraplegia, Spastic paraparesis, Bradykines... OMIM:615643
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Myoclonic absence seizure, Generalized myoclonic seizure, Bradykinesia, Ataxia, Rigidit... OMIM:617836
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor, Gait disturbance OMIM:616710
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Huntington Disease
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Gliosis, Neuronal loss in centra... OMIM:143100
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, ... ORPHA:391411
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Bilateral tonic-clonic seizure, Hyperkinetic movements, Tr... OMIM:618425
Rapid-Onset Dystonia-Parkinsonism
Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dystonia, Gait ataxia, To... ORPHA:71517
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Leukoencephalopathy... OMIM:615889
Holoprosencephaly 5
Semilobar holoprosencephaly, Central diabetes insipidus, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Akinesia, Limb dystonia, Limb apraxi... ORPHA:454887
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Hypoplasia of t... ORPHA:401840
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Resting tremor, Spastic tetraplegia, Bradykinesia, Spastic... OMIM:617225
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormalit... OMIM:300894
Febrile Seizures, Familial, 11
Hippocampal atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile se... OMIM:614418
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Cerebral atrophy, Periventricular leukomalacia, Delayed CNS myelination, Hypoplasia of the corpus... OMIM:618875
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Torticollis, Tremor OMIM:128235
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, CNS hypomyelination, Cerebral white matter atrophy, Microcephaly, Failure to ... ORPHA:369939
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Spastic Paraplegia 80, Autosomal Dominant
Dystonia, Bradykinesia, Spastic paraplegia, Lower limb spasticity, Babinski sign, Gait disturbanc... OMIM:618418
Dravet Syndrome
Photosensitive myoclonic seizure, Action tremor, Focal aware seizure, Febrile seizure (within the... ORPHA:33069
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Dysmetria, Action tremor, Hypoplasia of the corpus callosum, Atonic seizure, ... ORPHA:93952
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Progressive microcephaly, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, Hypoplasia of the ... OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Unsteady gait, Gait ataxia, Spasticity, Gliosis, Limb ataxia, ... OMIM:213200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Distal sen... OMIM:604484
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Spasticity, Leukoencephalopathy, Babinski sign, Tremor OMIM:611105
Episodic Ataxia, Type 9
Tonic seizure, Seizure, Bilateral tonic-clonic seizure, Clonic seizure, Episodic ataxia, Status e... OMIM:618924
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Seizure, Hyperkinetic movements, Tremor OMIM:616921
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Limb ataxia,... OMIM:617018
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Dilated fourth ventricle, Low-set ears, Cerebellar hypoplasia, Sensorineura... OMIM:617751
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Microcephaly, Failure to thrive, Cereb... OMIM:300475
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Cerebellar atrophy, Tonic seizure, Dystonia, Progressive microcephaly, Stereoty... OMIM:618917
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Dystonia, Choreoathetosis, Focal hemiclonic seizure, Myoclonic ... OMIM:619317
Autosomal Recessive Dopa-Responsive Dystonia
Parkinsonism, Generalized dystonia, Focal dystonia, Oculogyric crisis, Bradykinesia, Ataxia, Limb... ORPHA:101150
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Abnormality of the basal ganglia, Frequent falls, Inv... ORPHA:157941
Huntington Disease
Dystonia, Degeneration of the striatum, Clonus, Decreased body mass index, Involuntary movements,... ORPHA:399
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Bilateral tonic-clonic seizure, Difficulty walking, Myoclonus OMIM:619191
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:615127
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Episodic Ataxia, Type 5
Atypical absence seizure, Ataxia, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:613855
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Frontotemporal c... OMIM:612953
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Spastic paraplegia, Babinski sign, Gait dist... ORPHA:100988
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Generalized myoclonic seizure... ORPHA:330050
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Cachexia, Bil... OMIM:618093
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Hemiballismus, Dystonia, Hypertonia, Parkins... OMIM:618877
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Dystonia, Parkinsonism, Bradykinesia, Ataxia, Chorea OMIM:618317
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebral morphology, Small cerebral cortex, Microcephaly, Simplified gyral pattern, Abno... ORPHA:329228
Autosomal Dominant Spastic Paraplegia Type 3
Spastic gait, Frequent falls, Bradykinesia, Lower limb spasticity, Tip-toe gait, Lower limb hyper... ORPHA:100984
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Short stepped shuffling gait, Shuffling gait, Bradykinesia, Diffuse cerebral atroph... ORPHA:412066
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Hemimegalencephaly
Focal cortical dysplasia, Atonic seizure, Focal tonic seizure, Hyperintensity of cerebral white m... ORPHA:99802
Martsolf Syndrome 2
Microcephaly, Dilation of lateral ventricles, Macrotia, Hypoplasia of the corpus callosum OMIM:619420
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Intellectual Developmental Disorder, Autosomal Recessive 60
Microcephaly, Delayed myelination, Small for gestational age OMIM:617432
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Iron accum... ORPHA:329284
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Dysdiadochokinesis, Bradykinesia, Athetosis, Rig... OMIM:213600
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormality of the basal ganglia, Hypoplasia of the olfactory bulb OMIM:618646
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Bradykinesia, Rigidity, Dysdiadochokinesis ORPHA:228169
Waisman Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Bradykinesia, Cogwheel rigidity, Lewy bodies, Megal... OMIM:311510
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Involuntary movements, Bradykinesia, Limb dystonia, Laryng... OMIM:612067
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Progressive m... OMIM:613477
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Coasy Protein-Associated Neurodegeneration
Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal globus... ORPHA:397725
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Abnormal pyramidal sign, Cerebral cortex with spongiform changes, Astrocytosis,... ORPHA:204
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis, Difficulty walking OMIM:608634
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Death in childhood, Microcephaly, Partial agene... OMIM:619517
Leukodystrophy, Hypomyelinating, 13
Ataxia, Leukodystrophy, Failure to thrive, Abnormal periventricular white matter morphology, Dela... OMIM:616881
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Diaminopentanuria
Seizure, Ataxia, Neurodegeneration OMIM:222350
Isolated Focal Cortical Dysplasia
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:65683
Foxg1 Syndrome
Abnormal corpus callosum morphology, Decreased body weight, Dystonia, Choreoathetosis, Progressiv... ORPHA:561854
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, CNS hypomyelination, Ataxia, Leukodystrophy, Cerebral cortical atr... OMIM:607694
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Diffuse cerebral atrophy, Abnormality of extrapyramidal motor functio... OMIM:615362
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity... ORPHA:240085
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Tremor ORPHA:217012
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Caudate atrophy, Apraxia, Basal ganglia calc... OMIM:221770
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Abnormality of extrapyramidal motor functio... ORPHA:275872
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Motor stereotypy, Abnormal hippocampus morphology, Typical absence seizure, Microcephal... ORPHA:178469
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Inability to walk, Generalized ... OMIM:618090
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Microcephaly, Diffuse cer... ORPHA:77299
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Inability to walk OMIM:619639
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Cerebral atrophy, Dystonia, Generalized myoclonic seizure, Cerebr... ORPHA:464282
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Difficulty walking, Focal-onset seizure, Myoclonus OMIM:613608
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Dystonia, Resting tremor, Shuffling gait, Parkinsonism, Apraxia, Choreoathetosis, S... OMIM:300055
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia, Difficulty walking, Tremor ORPHA:423296
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Cerebral atrophy, Cerebellar atrophy, Chin myoclonus, Focal myo... ORPHA:263516
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Hand tremor, Frequent falls, Resting tremor, Shuffling gait, Focal dystonia, Pa... ORPHA:53351
Hypermanganesemia With Dystonia 2
Dystonia, Opisthotonus, Hyperintensity of cerebral white matter on MRI, Gait disturbance, Microce... OMIM:617013
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Agenesis of corpus callosum, Impaired vibration sensation in the l... OMIM:610245
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Neuroferritinopathy
Dystonia, Focal dystonia, Abnormal caudate nucleus morphology, Iron accumulation in globus pallid... ORPHA:157846
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Microcephaly, Spasticity, Myoclonu... OMIM:607317
Huntington Disease-Like 2
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea, Weight loss OMIM:606438
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Myoclonic seizure, Atonic seizure, Apraxia, Inability to walk, Gai... OMIM:617810
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Developmental And Epileptic Encephalopathy 14
Microcephaly, Tetraplegia, Cerebral cortical atrophy, Spasticity, Clonus, Hypoplasia of the corpu... OMIM:614959
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Opisthotonus, Dystonia, Choreoathetosis, Oculogyric crisis, Bradykinesia, Ataxia, Seizure, Rigidi... ORPHA:13
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:614203
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Sensorineural hearing impairment, Small cerebral cortex... ORPHA:2185
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Hyperintensity of cerebral white matte... ORPHA:527497
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Parkinsonism, Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Broad-based gait, Hyper... OMIM:617384
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Low-set ears OMIM:614870
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainste... ORPHA:250972
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Global brain atrophy, Microcephaly, Failure to thrive, Myoclonus, Bilateral toni... OMIM:609056
Alternating Hemiplegia Of Childhood 1
Dystonia, Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Tetraplegia, Bilateral ton... OMIM:104290
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Dystonia, Agenesis of corpus callosum, Basal ganglia cysts, Basal ganglia glios... ORPHA:79243
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Parkinsonism With Polyneuropathy
Resting tremor, Bradykinesia, Rigidity, Diffuse cerebral atrophy, Parkinsonism with favorable res... OMIM:619279
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Gen... ORPHA:2382
Developmental And Epileptic Encephalopathy 98
Cerebral atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Focal-onse... OMIM:619605
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Rhomben... ORPHA:280195
Mitochondrial Membrane Protein-Associated Neurodegeneration
Hand tremor, Dystonia, Abnormal substantia nigra morphology, Shuffling gait, Frequent falls, Park... ORPHA:289560
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Small for gestational age, Oculogyric crisis, Bradykinesia, Limb hypertonia, Cerebral p... ORPHA:70594
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Parkinsonism, Dilated fourth ventricle, Fasciculations, Bradykinesia, O... OMIM:183090
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Microcephaly, Dandy-Walker malformation, Spina bifida occulta, Hypop... OMIM:618736
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Failure to thrive in infancy, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, My... OMIM:619065
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Fasciculations, Bradykinesia, Ataxia, Rigidity, Spasticity OMIM:183050
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Polymicrogyria OMIM:300982
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia, Abnormal periventricular white matter morphology ORPHA:306686
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Spastic paraplegia, Pa... ORPHA:53583
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Agenesis of corpus callosum, Lower limb spasticity,... ORPHA:401820
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Dysmetria, Dystonia, Apraxia, Spastic paraparesis, Bradykinesia... OMIM:615157
Microcephaly 19, Primary, Autosomal Recessive
Decreased body weight, Failure to thrive in infancy, Microcephaly, Simplified gyral pattern, Hypo... OMIM:617800
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medicati... OMIM:606693
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Dysdiadochokinesis, Cerebellar vermis atrophy, Cogwheel rigidity, My... ORPHA:363710
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Neuronal l... OMIM:615924
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Choreoathetosis, Ataxia, Microcephaly, Leukodystrophy, Cerebral hypomyelination OMIM:612438
Developmental And Epileptic Encephalopathy 79
Hypoplasia of the corpus callosum, CNS hypomyelination, Cerebral cortical atrophy, Secondary micr... OMIM:618559
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Blepharospasm, Extrapyra... ORPHA:99750
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Hereditary Methemoglobinemia
Cerebellar atrophy, Small for gestational age, Global brain atrophy, Athetosis, Temporal cortical... ORPHA:621
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, CNS hypomyelination, Choreoathetosis, Thin corpus callosum, Cerebellar v... OMIM:312080
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Dystonia, Stereotypical hand wringing, Inability to walk, Focal-on... OMIM:618760
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Hypoplasia of the corpus ... ORPHA:488635
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Decreased body weight, Progressive microcephaly, Athetosis, Ataxia, Focal-ons... OMIM:614559
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus ... ORPHA:166024
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Cavitation of the basal ganglia, Choreoathetosis, Blepharospasm, Bradykin... OMIM:606159
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Gliosis, Neuronal loss in central nervous system, Ab... OMIM:604218
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia, Lethargy OMIM:618683
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Abnormality of the basal ganglia, Low-set ears, Primary microcepha... ORPHA:300570
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... OMIM:615697
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Cerebral hypomyelination OMIM:601170
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Seizure, Tremor OMIM:141500
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Spastic tetraparesis, Dystonia, Bradykinesia, Failure to thrive, Hypo... OMIM:614924
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Combined Oxidative Phosphorylation Deficiency 45
Ataxia, Failure to thrive, Seizure, Abnormal cerebral white matter morphology, Tremor OMIM:618951
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Progressive microcephaly, CNS hypomyelination, Cerebellar vermis atrophy, Micro... OMIM:615760
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Dystonia, Unsteady gait, Gait ataxia, Rigidity, Bilateral tonic-clonic seizure, Falls OMIM:203740
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Severe senso... OMIM:604213
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Tremor OMIM:616187
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Intention tremor, Ata... OMIM:618170
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Microcephaly, Abnormal basal ganglia MRI signal i... ORPHA:79326
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Blepharospasm, Abnormal hippocampus morphology, Generalized myoclonic seizure... ORPHA:352582
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Obesity, Ataxia, Unsteady gait, Microcephaly, Seizure, A... OMIM:614947
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Tre... OMIM:613135
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination OMIM:614482
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Dystonia 23
Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait disturbance, Torticol... OMIM:614860
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impai... OMIM:245570
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Ataxia, Focal-onset seizure, Microcephaly, Paraparesis, Spa... ORPHA:726
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Tonic seizure... OMIM:619606
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Glutamine Deficiency, Congenital
Low-set ears, Hypoplasia of the corpus callosum, Neonatal death, Dilation of lateral ventricles, ... OMIM:610015
Kaya-Barakat-Masson Syndrome
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Microcephaly, Hypoplasia of the corpus... OMIM:619125
Charcot-Marie-Tooth Disease, Type 4A
CNS hypomyelination, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers,... OMIM:214400
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Dilated fourth ventricle, Abnormal brainstem morphology, Cerebellar hypopl... ORPHA:370959
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Ataxia, CNS hypomyelination, Thin corpus callosum OMIM:619688
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Paroxysmal dyskinesia, Ataxia, Seizure, Focal-onset seizure, Microcephaly, Ventriculome... OMIM:619150
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Ataxia, Steppage gait, Gait ataxia, Distal sensory impairment, Leu... OMIM:618387
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Cerebral cortical atrophy,... OMIM:618193
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Chorea, Generalized-onse... ORPHA:79137
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Cerebellar atrophy, Hypoplasia of the corpus callosum, Dystonia, Abnormal pyram... OMIM:617672
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Developmental And Epileptic Encephalopathy 86
Microcephaly, CNS hypomyelination, Small for gestational age OMIM:618910
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, CNS hypomyelination, Leukodystrophy, Truncal ataxia, Limb ataxia OMIM:617560
Severe Canavan Disease
Inability to walk, Cerebral white matter atrophy, Lethargy, Spasticity, Megalencephaly, Decerebra... ORPHA:314911
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Spastic dysarthria, Bradykinesia, Progressive cerebellar ataxia, Gait at... ORPHA:282166
Gerstmann-Straussler Disease
Neurofibrillary tangles, Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidi... OMIM:137440
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Clcn4-Related X-Linked Intellectual Disability Syndrome
Myoclonus, Upper limb spasticity, Lower limb spasticity, Unsteady gait, Progressive cerebellar at... ORPHA:485350
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Microcephaly, Simplified gyral pattern, Periventricular white matter hyperi... OMIM:619470
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Dysmetria, Dystonia, Bradykinesia, Ataxia, Seizure, Gait ataxia, Hemiparesis, Tru... OMIM:601338
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal-onset seizure, Focal aware seizure, Paresthesia, Focal impaired awareness sei... ORPHA:98820
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Focal-onset seizure, Gait ataxia, Atypical ... ORPHA:225147
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Difficulty walking, Lethargy OMIM:613710
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Microcephaly, Spasticity, Infantile spasms, Tremor OMIM:278780
Familial Infantile Bilateral Striatal Necrosis
Spastic tetraparesis, Dystonia, Basal ganglia cysts, Loss of ability to walk, Atrophy/Degeneratio... ORPHA:225154
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Gait disturbance,... ORPHA:275864
Pontocerebellar Hypoplasia, Type 13
Hypoplastic hippocampus, Microcephaly, Dandy-Walker malformation, Overfolded helix, Hypoplasia of... OMIM:618606
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia, CNS hypomyelination ORPHA:88637
Developmental And Epileptic Encephalopathy 93
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Microcephaly, Hypoplasia of the corpus... OMIM:618012
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Dystonia, Focal-onset seizure, Microcephaly, Bilateral tonic-clonic seizure, G... OMIM:619157
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Spasticity, Seizure, Status epilepticus, Tremor OMIM:614307
Developmental And Epileptic Encephalopathy 76
Cerebral atrophy, Cerebellar atrophy, Microcephaly, Delayed CNS myelination, Periventricular whit... OMIM:618468
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Atonic seizure, Generalized myoclonic seizure, Babinski sign, Tremor OMIM:612437
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... ORPHA:101039
Dystonia 31
Depression, Difficulty walking, Abnormal posturing OMIM:619565
Aicardi-Goutieres Syndrome 6
Cerebral calcification, Dystonia, Loss of ability to walk, Microcephaly, Rigidity, Tremor OMIM:615010
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Microcephaly, Leukodystrophy, Diffuse white matter abnormalities, Secondary microcephaly OMIM:616763
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebral atrophy, Action tremor, Shuffling gait, Bradykinesia, Ataxia, Cogwheel rigidity, Parkins... ORPHA:254886
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, CNS hypomyelination, Agenesis of corpus callosum, Neurodegeneration, Microcep... OMIM:616239
Landau-Kleffner Syndrome
Atypical absence seizure, Frequent falls, Focal myoclonic seizure, Steppage gait, Speech apraxia,... ORPHA:98818
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Dystonia, Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Bilateral Generalized Polymicrogyria
Dystonia, Motor stereotypy, Abnormal hippocampus morphology, Typical absence seizure, Microcephal... ORPHA:208447
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:618890
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysarthria, Spastic parapleg... ORPHA:251282
Tremor-Ataxia-Central Hypomyelination Syndrome
Dysmetria, Abnormality of the basal ganglia, CNS hypomyelination, Impaired vibration sensation in... ORPHA:447896
Primary Progressive Freezing Gait
Frequent falls, Shuffling gait, Bradykinesia, Lewy bodies, Rigidity, Cerebral cortical atrophy, C... ORPHA:75567
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypoplasia of the corpus callosum, Dysmetria, Cerebellar atrophy, CNS hypomyelination, Dysdiadoch... OMIM:614381
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Cerebral edema, Dystonia, Ataxia, Lethargy, Chorea, Neurodegeneration, Gliosis,... OMIM:618321
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Spastic tetraplegia, Ataxia, Unste... OMIM:256600
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormal corpus callosum morphology, Schizencephaly, Hyperactivity, Microcephaly, Lissencephaly, ... OMIM:604317
Machado-Joseph Disease
Parkinsonism, Dystonia, Dilated fourth ventricle, Fasciculations, Bradykinesia, Facial-lingual fa... OMIM:109150
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Ataxia, Leukoencephalopathy, CNS hypomyelination, Hypoplasia of the corpus callosum OMIM:615281
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Spastic paraparesis, Generalized myoclonic seizure, Ocul... OMIM:614487
Leukodystrophy, Hypomyelinating, 10
Cerebral atrophy, Progressive microcephaly, CNS hypomyelination, Microcephaly, Leukodystrophy, Fa... OMIM:616420
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Myoclonic spasms, Generalized-onset se... ORPHA:79263
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Huntington Disease-Like 1
Dysmetria, Basal ganglia gliosis, Anxiety, Dementia, Aggressive behavior, Unsteady gait, Chorea, ... OMIM:603218
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Micro... ORPHA:477673
Intellectual Developmental Disorder, Autosomal Recessive 6
Dystonia, Involuntary movements, Seizure, Myoclonus, Tremor OMIM:611092
Progressive Multifocal Leukoencephalopathy
Dysmetria, Somatic sensory dysfunction, Abnormal astrocyte morphology, Abnormal oligodendroglia m... ORPHA:217260
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Atonic seizure, Inabili... ORPHA:2590
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Truncal obesity, Microcephaly, Spasticity, Increased body mass index, ... OMIM:300957
Sulfite Oxidase Deficiency, Isolated
Cerebral atrophy, Choreoathetosis, Generalized dystonia, Hyperintensity of cerebral white matter ... OMIM:272300
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Choreoathetosis, Ataxia, Demyelinating motor neuropathy, Leukodystrophy, Cerebr... OMIM:608804
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Lower limb spa... OMIM:600363
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Dysdiadochokinesis, Hyperintensity of cerebral white matter on MRI... ORPHA:289494
Fragile X Tremor/Ataxia Syndrome
Dysmetria, Action tremor, Resting tremor, Parkinsonism, Intention tremor, Bradykinesia, Gait atax... OMIM:300623
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Generalized dystonia, Focal dystonia, Motor stereotypy... ORPHA:98807
Immunodeficiency 8
Hyperactivity OMIM:615401
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Rett Syndrome
Dystonia, Progressive microcephaly, Motor stereotypy, Stereotypical hand wringing, Inability to w... ORPHA:778
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Spinal Muscular Atrophy, Jokela Type
Distal sensory impairment, Difficulty walking, Fasciculations, Tremor OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Intention tremor, Lower limb spasticity, ... OMIM:616948
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Upper limb spasticity, Overweight, Microcephaly, Gait disturbance, Gliosis, Bil... ORPHA:457240
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... OMIM:105550
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cerebral white matter atrophy, Microcephaly, Chorea, Truncal ataxia, Bilateral tonic-clonic seizu... ORPHA:369840
Cach Syndrome
Abnormal pons morphology, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cereb... ORPHA:135
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
CNS hypomyelination, Neutropenia, Failure to thrive, Corpus callosum atrophy, Cerebral hypomyelin... OMIM:608809
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Agenesis of corpus callosum, Low-set ears, Dilated third ventricle, Leukoenceph... OMIM:619244
Leukoencephalopathy With Vanishing White Matter
Leukoencephalopathy, Cessation of head growth, Cerebral hypomyelination, Gliosis, CNS demyelination OMIM:603896
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Null Syndrome
Demyelinating peripheral neuropathy, Ataxia, Peripheral demyelination, CNS hypomyelination ORPHA:280234
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Short stepped shuffling gait, Loss of ability to walk, Akinesia, Unsteady gait,... ORPHA:240094
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Hypoplasia... OMIM:612319
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Developmental And Epileptic Encephalopathy 29
Cerebral atrophy, CNS hypomyelination, Microcephaly, Failure to thrive, Chorea OMIM:616339
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myo... OMIM:614018
Spinocerebellar Ataxia Type 1
Dysmetria, Dystonia, Dysdiadochokinesis, Fasciculations, Bradykinesia, Progressive cerebellar ata... ORPHA:98755
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
CNS hypomyelination, Thin corpus callosum, Microcephaly, Failure to thrive, Delayed CNS myelinati... OMIM:616577
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Gabriele-De Vries Syndrome
Dystonia, Ventriculomegaly, Waddling gait, Abnormal cerebral white matter morphology, Tremor OMIM:617557
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Cavitating leukodystrophy, Ataxia OMIM:619061
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Central Neurocytoma
Cerebral calcification, Tinnitus, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Cerebellar atrophy, Unsteady gait, Limb ataxia, Spasticity, Truncal ataxia, Babinsk... OMIM:615768
Pelizaeus-Merzbacher Disease, Connatal Form
Confluent hyperintensity of cerebral white matter on MRI, Inability to walk, Lower limb spasticit... ORPHA:280210
Paganini-Miozzo Syndrome
Dilation of lateral ventricles, Microtia, Low-set ears OMIM:301025
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Seizure, Gait ataxia, Spasticity, Bilateral to... ORPHA:529665
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Abnormality of... ORPHA:99852
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Abnormality of thalamus morphology OMIM:613724
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240071
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617761
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure, Cerebellar atrophy OMIM:608278
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Progressive microcephaly, Generalized myoclonic seizure, Microcephaly, Rigidity... OMIM:614498
Multiple System Atrophy
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... ORPHA:102
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Hearing impairment, Focal T2 hyperintense thalamic lesion OMIM:619057
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Difficulty walking OMIM:605285
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Progressive neurologic deterioration, Cachexia, Weight loss OMIM:612075
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Seizure precipitated by febrile infection, Status epilepticus wit... ORPHA:363549
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Cerebellar hypoplasia, Profound hearing impairment, Dandy-Walker malfor... ORPHA:3078
Infantile Dystonia-Parkinsonism
Abnormal pyramidal sign, Parkinsonism, Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia... ORPHA:238455
Leukodystrophy, Hypomyelinating, 3
Global brain atrophy, Sudanophilic leukodystrophy, Microcephaly, Leukodystrophy, Failure to thriv... OMIM:260600
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Rasmussen Subacute Encephalitis
Global brain atrophy, Focal aware seizure, Epileptic spasm, Cerebral cortical hemiatrophy, Involu... ORPHA:1929
Parkinson Disease 1, Autosomal Dominant
Parkinsonism, Dystonia, Resting tremor, Shuffling gait, Bradykinesia, Lewy bodies, Rigidity, Gait... OMIM:168601
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Ventriculomegaly, Microcephaly, Rigidity, Gait dist... ORPHA:391417
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Abnormal pyramidal sign, Somatic sensory dysfunction, Deep cerebral white matter hyperintensities... ORPHA:199354
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Spastic dysarthria, Spastic paraparesis, Generalized myo... ORPHA:313772
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Spastic tetraplegia, Spastic paraplegia, Cerebral palsy, Microcephaly, Hypopl... OMIM:612936
Manganese Poisoning
Dystonia, Bradykinesia, Abnormal globus pallidus morphology, Akinesia, Cogwheel rigidity, Gait di... ORPHA:306682
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Action tremor, Parkinsonism, Axial dystonia, Head tremor, Progress... OMIM:604326
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy, Abnormal periventricular white matter morphology OMIM:616370
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebellar ataxia OMIM:606183
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Seizure, Weight loss, Abnormal cerebral white matter morphology OMIM:613662
Glutathionuria
Tremor OMIM:231950
Neuroectodermal Melanolysosomal Disease
Hypertonia, Cerebral cortical hemiatrophy, Ataxia, Rigidity, Cerebral cortical atrophy, Spasticit... ORPHA:33445
Postencephalitic Parkinsonism
Abnormal pyramidal sign, Resting tremor, Abnormal substantia nigra morphology, Oculogyric crisis,... ORPHA:97349
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Focal T2 hypointense basal ganglia lesion,... ORPHA:139485
Parkinsonian-Pyramidal Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Intention tremor, Bradykinesia, ... ORPHA:171695
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Leg dystonia, Bradykinesia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Steppage gait, Rigidity, Poor fine mot... OMIM:613280
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxi... ORPHA:98763
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal putamen morphology, Abnormal brainstem morphology, Abnormal brainstem MR... ORPHA:88619
Leigh Syndrome
Dystonia, Ataxia, Failure to thrive, Spasticity, Gliosis, Focal substantia nigra T2 hyperintensit... OMIM:256000
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Bilateral ton... OMIM:619028
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Underdeveloped antitragus, Abnormal caudate nucleus morphology, Prominent antihelix, Choroid plex... ORPHA:293725
Slc35A2-Cdg
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Sensorineural hearing impairment,... ORPHA:356961
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Cerebral cortical atrophy, Spasticity, Hypoplasia of the corpus callosum, Seizure, Tremor OMIM:300983
Cln5 Disease
Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the central nervous system, General... ORPHA:228360
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Dilated fourth ventricle, Inability to walk, Ataxia, Gait ata... OMIM:614831
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Conductive hearing impairment, Sensorineural hearing impairment, Abno... ORPHA:557003
Multiple System Atrophy, Cerebellar Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... ORPHA:227510
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Agenesis of corpus callosum, Hypoplastic hippocampus, Partial agenesis of the c... ORPHA:85179
Leukodystrophy, Hypomyelinating, 16
Abnormal pyramidal sign, Dysmetria, Dystonia, Intention tremor, Gait ataxia, Hypoplasia of the co... OMIM:617964
Autosomal Spastic Paraplegia Type 58
Microcephaly, Clonus, Tremor, Cerebellar atrophy, Dysmetria, Frequent falls, Unsteady gait, Gait ... ORPHA:397946
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Weiss-Kruszka Syndrome
Horizontal crus of helix, Hypoplasia of the corpus callosum, Colpocephaly, Cupped ear, Agenesis o... OMIM:618619
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Atonic seizure, Generalized myoclonic seizure, Athetosis, Ataxia, Progressive extrapyra... ORPHA:382
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Microcephaly, Lissencephaly, Bilateral... OMIM:618730
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Ataxia, Chorea, Cerebral hypomyelination, Delayed myelination, Frontotemporal... ORPHA:79097
Developmental And Epileptic Encephalopathy 78
Microcephaly, CNS hypomyelination, Chorea OMIM:618557
Porphyria, Acute Hepatic
Failure to thrive, Paralysis, Respiratory paralysis OMIM:612740
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Failure to thrive, Thin corpus callosum, Myoclonus, Tremor OMIM:619651
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Low-set ears... ORPHA:397715
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Primary microcephaly, Simplified gyral pattern, Lissencephaly, Hypoplasia of the corpus callosum,... ORPHA:284417
Parkinson Disease, Late-Onset
Parkinsonism, Short stepped shuffling gait, Resting tremor, Dystonia, Bradykinesia, Substantia ni... OMIM:168600
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy, Hypointensity of cerebral white matter on MRI, Ataxia OMIM:619196
Spinocerebellar Ataxia, X-Linked 3
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Unilateral vocal cord paralysis,... OMIM:301790
Behr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, T... OMIM:210000
Pontocerebellar Hypoplasia, Type 14
Dystonia, Agenesis of corpus callosum, Spastic tetraplegia, Focal-onset seizure, Simplified gyral... OMIM:619301
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Simple ear, Dilated fourth ventricle, Rhombencephalosynapsi... OMIM:619306
Lissencephaly 10
Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-onset sei... OMIM:618873
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Agenesis of corpus callosum, Abnormal astrocyte morphology, Status epilepticu... ORPHA:168486
Pontocerebellar Hypoplasia, Type 15
Dystonia, Agenesis of corpus callosum, Spastic tetraplegia, Focal-onset seizure, Partial agenesis... OMIM:619302
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, Neurodegeneration OMIM:610951
Spasticity, Childhood-Onset, With Hyperglycinemia
Leukodystrophy, Spastic ataxia, Hypoplasia of the corpus callosum OMIM:616859
D-2-Hydroxyglutaric Aciduria 1
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts OMIM:600721
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Cerebral atrophy, Cerebellar atrophy, Atonic seizure, Motor stereotypy, Inabi... ORPHA:168491
Hyperphenylalaninemia, Bh4-Deficient, C
Cerebral calcification, Hypertonia, Dystonia, Choreoathetosis, Microcephaly, Seizure, Myoclonus, ... OMIM:261630
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Ventriculomegaly, Fusion of the cere... ORPHA:59315
Multiple System Atrophy, Parkinsonian Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... ORPHA:98933
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis OMIM:600333
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Corticospinal tract hypoplasia, Hydrocephalus, Absent septum pelluci... OMIM:307000
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Hydrane... ORPHA:2570
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Autosomal Dominant Dopa-Responsive Dystonia
Abnormality of extrapyramidal motor function, Parkinsonism, Abnormal substantia nigra morphology,... ORPHA:98808
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Genera... OMIM:271980
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, CNS hypomyelination, Microcephaly, Cachexia, Hypoplasia of the corpus callosum OMIM:618186
Neuronal Intranuclear Inclusion Disease
Ataxia, Ventriculomegaly, Rigidity, Gait disturbance, Leukoencephalopathy, Seizure, Tremor OMIM:603472
Pontocerebellar Hypoplasia, Type 4
Microcephaly, Spasticity, Gliosis, Seizure, Myoclonus, Hypertonia OMIM:225753
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Cerebellar atrophy, Progressive microcephaly, Abnormal periventricular white ma... OMIM:613811