Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
palmitoyl-protein thioesterase 1
Synonyms:
D4Ertd184e,  CLN1,  9530043G02Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Ppt1 mutations

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

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

The table below shows human diseases associated to Ppt1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Retinal degeneration, Cerebral atrophy, Macular degeneration, Myoclonus, Optic atrophy, S... OMIM:256730

The table below shows human diseases predicted to be associated to Ppt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Retinal degeneration, Cerebral atrophy, Myoclonus, Increased extraneuronal autofluorescen... OMIM:204500
Ceroid Lipofuscinosis, Neuronal, 3
Abnormal cerebellum morphology, Loss of ambulation, Cerebral atrophy, Retinal degeneration, Macul... OMIM:204200
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Ataxia, Loss of ambulation, Atrophy/Degeneration involving the caudate nucleus, Myocl... ORPHA:225154
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Rigidity, Chorea, Optic atrophy, Spasticity, Cerebellar atrophy, Abnormality of extr... ORPHA:385
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Retinopathy, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Optic atrophy, ... ORPHA:216873
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Retinal degeneration, Dysmetria, Myoclonus, Dysdiadochokinesis, Increased neu... OMIM:256731
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Retinal degeneration, Cerebral atrophy, Macular degeneration, Myoclonus, Optic atrophy, S... OMIM:256730
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Akine... ORPHA:282166
Combined Saposin Deficiency
Neuronal loss in central nervous system, Splenomegaly, Myoclonus, Babinski sign, Hyperkinetic mov... OMIM:611721
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Generalized myoclonic seizure, Retinopathy, Pigmentary retinopathy, Neu... OMIM:610951
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Fasciculations, Astrocytosis, Gait dist... ORPHA:275864
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Neuronal loss in central nervous system, Apathy, Cerebral cortical atrophy, Myo... OMIM:600795
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Macular degeneration, Dysmetria, Babinski sign, Pigmentary retinop... OMIM:164500
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Optic atrophy, Gait disturbance, Involuntary movements, Spasticity OMIM:617282
Progressive Myoclonic Epilepsy With Dystonia
Status epilepticus, Hemiplegia, Diffuse cerebellar atrophy, Generalized myoclonic seizure, Myoclo... ORPHA:352596
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... ORPHA:95434
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Optic atrophy, Choreoathetosis, Bilateral tonic-clonic seizure, Gl... OMIM:609056
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Cerebral atrophy, Myoclonus, Cerebellar atrophy, Seizure, Increased neuronal autofluoresc... OMIM:600143
Pontocerebellar Hypoplasia, Type 1E
Myoclonus, Hypoplasia of the pons, Cerebellar hypoplasia, Optic atrophy, Cerebellar atrophy OMIM:619303
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Anxiety, Parkinsonism, Astrocytosis, Abnormal lower mo... ORPHA:100070
Developmental And Epileptic Encephalopathy 16
Status epilepticus, Cerebral atrophy, Myoclonus, Hemiparesis, Optic atrophy, Abnormality of extra... OMIM:615338
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremo... OMIM:615362
Huntington Disease-Like 1
Dysmetria, Anxiety, Basal ganglia gliosis, Rigidity, Chorea, Aggressive behavior, Unsteady gait, ... OMIM:603218
Sporadic Creutzfeldt-Jakob Disease
Neuronal loss in central nervous system, Gliosis, Ataxia, Cerebral atrophy, Myoclonus, Babinski s... ORPHA:204
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Babin... ORPHA:644
Spinocerebellar Ataxia 17
Broad-based gait, Neuronal loss in central nervous system, Gliosis, Ataxia, Bradykinesia, Limb at... OMIM:607136
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Cerebral visual impairment, Myoclonus, Optic atrophy, Spasticity, Seiz... OMIM:617669
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... OMIM:618876
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Cerebral atrophy, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, ... OMIM:616981
Infantile Neuronal Ceroid Lipofuscinosis
Progressive visual field defects, Ataxia, Clumsiness, Cerebral cortical atrophy, Poor fine motor ... ORPHA:79263
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Neuronal loss in central nervous system, Hepatomegaly, Cerebral atrophy, Myoclonus, Abnor... OMIM:615924
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Babinski sign, Chorea, Optic atrophy, Spasticity, Abnormality of extrapyramidal motor fun... OMIM:258501
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, Cerebral atrophy, Myoclonus, Limb myoclonus, Optic atrophy, Febril... ORPHA:263516
Folinic Acid-Responsive Seizures
Status epilepticus, Hypertonia, Ataxia, Clonic seizure, Atonic seizure, Broad-based gait, General... ORPHA:79097
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Impaired proprioception, Progres... ORPHA:98755
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Atrophy/Degeneration affecting the brai... OMIM:616230
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral ton... OMIM:162350
Developmental And Epileptic Encephalopathy 69
Status epilepticus, Cerebral cortical atrophy, Myoclonus, Hyperkinetic movements, Corpus callosum... OMIM:618285
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Gait disturbance, Choreo... ORPHA:391417
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Seizure, Corticospi... OMIM:551500
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral visual impairment, Cerebral atrophy, Myoclonus, Hyperkinetic movements, Choreoathetosis,... OMIM:618497
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Emotional lability, Myoclonus, Babinski sign,... ORPHA:254343
Leukodystrophy, Hypomyelinating, 14
Cerebral atrophy, Spasticity, Cerebellar atrophy, Seizure, Blindness, Dystonia OMIM:617899
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Neuronal loss in central nervous system, Gliosis, Multifocal seizures, Abnormal auton... OMIM:614498
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Retinal degeneration, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity,... OMIM:614322
Hemimegalencephaly
Status epilepticus, Focal motor seizure, Gliosis, Atonic seizure, Myoclonus, Epileptic spasm, Hem... ORPHA:99802
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Visual loss, Tremor, Spasticity, Seizure,... ORPHA:79262
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Myoclonus, Rigidity, Athetosis, Optic atrophy, Gait disturbance, Cerebellar at... OMIM:618241
Huntington Disease
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia, Ce... OMIM:143100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Atoni... ORPHA:2590
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Status epilepticus, Clonic seizure, Hepatomegaly, Splenomegaly, Intention tremor, Myoclonus, Bila... OMIM:610539
Dystonia 23
Torticollis, Cerebral cortical atrophy, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, C... OMIM:614860
Cerebral Visual Impairment
Visual field defect, Unusual CNS infection, Clumsiness, Central nervous system degeneration, Incr... ORPHA:447788
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Slow decrease in visual acuity, Nyctalopia, Full-thickn... ORPHA:75377
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure OMIM:616187
Myoclonic Epilepsy Of Infancy
Hemiplegia, Generalized myoclonic seizure, Myoclonus, Leber optic atrophy, Febrile seizure (withi... ORPHA:86909
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Ataxia, Retinopathy, Myoclonus, Parkinsonism, Progressive spastic paraplegia, S... ORPHA:306511
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Status epilepticus, Hypertonia, Cerebral cortical atrophy, Inability to walk, Optic nerve hypopla... OMIM:617864
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Self-injurious behavior, Cerebral atrophy, Myoclonus, Hyperkinetic movements, ... OMIM:614254
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Chorea, Seizure, Spastic tetraplegia, Cerebellar atrophy, Clonus, Irritability OMIM:613811
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly, Myoclonus, Bilateral tonic-clonic seizure, Dystonia, Recurrent respir... ORPHA:139406
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Degeneration of anterior horn cells, Facial palsy, Myoclonus, Fasc... OMIM:159950
Peho-Like Syndrome
Status epilepticus, Myoclonus, Optic atrophy, Cerebellar atrophy, Seizure OMIM:617507
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Cerebral atrophy, Myoclonus, Bilateral tonic-clonic seizure, Increased neuronal autofluor... OMIM:204300
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Spastic dysarthria, Optic atrophy... ORPHA:401866
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Ataxia, Inability to walk, Retinal degeneration, Spasticity, Generalized... ORPHA:168491
Huntington Disease
Gait imbalance, Inability to walk, Babinski sign, Chorea, Difficulty walking, Anxiety, Rigidity, ... ORPHA:399
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... OMIM:612319
Focal Cortical Dysplasia, Type Ii
Cognitive impairment, Astrocytosis OMIM:607341
Huntington Disease-Like 2
Cerebral cortical atrophy, Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Caudate... ORPHA:98934
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, ... ORPHA:41751
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Riboflavin Transporter Deficiency
Ataxia, Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Abnormality of m... ORPHA:97229
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Retinal degeneration, Macular degeneration, Chorea, T... ORPHA:99
Non-Specific Early-Onset Epileptic Encephalopathy
Status epilepticus, Ataxia, Cerebral atrophy, Brain atrophy, Retinal degeneration, Limb hypertoni... ORPHA:442835
Sandhoff Disease
Ataxia, Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Seizure, Blindness, Recurrent ... ORPHA:796
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Retinal degeneration, Cerebral atrophy, Poor fi... ORPHA:79264
Creutzfeldt-Jakob Disease
Apathy, Abnormal cerebellum morphology, Extrapyramidal muscular rigidity, Myoclonus, Anxiety, Hem... OMIM:123400
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Spasticity, Seizure, Blindness, Severely reduced visual acuity OMIM:309555
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Cerebral atrophy, Euphoria, Myoclonus, Babinski sign, Gait disturbance, Abnormal upper m... OMIM:221770
Intellectual Developmental Disorder, Autosomal Recessive 6
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia OMIM:611092
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Myoclonus, Rigidity, Cerebral atrophy OMIM:619057
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Clonic seizure, Self-injurious behavior, Cerebral atrophy, Tonic seizure, Inabi... OMIM:618917
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia OMIM:615889
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure OMIM:616921
Spinocerebellar Ataxia 2
Ataxia, Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Spasticity, Unsteady gait, Pos... OMIM:183090
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Action tremor, Intention tremor, Myoclonus, Nephropathy, Focal segmental glom... OMIM:254900
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Atrophy of the dentate nucleus OMIM:125370
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Cerebellar gliosis, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Di... OMIM:616505
Foxg1 Syndrome
Status epilepticus, Motor stereotypy, Inability to walk, Myoclonus, Hyperkinetic movements, Infan... ORPHA:561854
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Cerebral atrophy, Hyperkinetic movements, Chorea, Athetosis, Involuntary... OMIM:617493
Dystonia 6, Torsion
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... OMIM:602629
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Anxiety, Parkinsonism, Chorea, Tremor, Bilateral tonic-clonic s... OMIM:618093
Developmental And Epileptic Encephalopathy 49
Myoclonus, Optic atrophy, Spasticity, Seizure, Dandy-Walker malformation OMIM:617281
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Ataxia, Myoclonus, Epileptic spasm, Atrophy/Degeneration affecting the brainst... OMIM:619971
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Anxiety, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction ORPHA:401901
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... OMIM:615491
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Neuro... OMIM:617672
Epilepsy, Early-Onset, Vitamin B6-Dependent
Hypertonia, Brain atrophy, Myoclonus, Clonus, Seizure OMIM:617290
New-Onset Refractory Status Epilepticus
Status epilepticus, Focal impaired awareness seizure, Focal aware motor seizure, Bilateral tonic-... ORPHA:363558
Pontocerebellar Hypoplasia, Type 2A
Gliosis, Cerebral cortical atrophy, Opisthotonus, Extrapyramidal dyskinesia, Hypoplasia of the po... OMIM:277470
Spinocerebellar Ataxia 1
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Chorea, Optic atrophy,... OMIM:164400
Bothnia Retinal Dystrophy
Visual field defect, Increased OCT-measured foveal thickness, Retinal degeneration, Macular degen... ORPHA:85128
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Self-injurious behavior, Frontal cortical atrophy, Myoclonus, Aggressive behavior, Se... OMIM:300699
Benign Adult Familial Myoclonic Epilepsy
Amaurosis fugax, Hand tremor, Myoclonus, Generalized-onset seizure, Focal-onset seizure ORPHA:86814
Classic Glucose Transporter Type 1 Deficiency Syndrome
Status epilepticus, Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea... ORPHA:71277
Immunodeficiency 83, Susceptibility To Viral Infections
Meningitis, Gliosis, Herpes simplex encephalitis OMIM:613002
Scrub Typhus
Photophobia, Skin rash, Splenomegaly, Myocarditis, Anterior uveitis, Tremor, Meningitis, Renal in... ORPHA:83317
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hypertonia, Ataxia, Decreased nerve conduction velocity, Dysmetria, Intention tremor, Myoclonus, ... OMIM:618356
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Focal motor status epilepticus, Poor coordination, Chorea, Falls, Aggre... OMIM:619150
Nipah Virus Disease
Myoclonus, Tremor, Recurrent pharyngitis, Infectious encephalitis, Seizure ORPHA:99825
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Aggressive behavior, Generalized non-moto... ORPHA:98811
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Park... ORPHA:98756
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Adult-onset night blindn... OMIM:605670
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal impaired awareness seizure, Chorea, Generalize... ORPHA:178469
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Giant somatosensory evoked potentials, Tremor, Difficulty walking, Bilateral tonic-clo... OMIM:613608
Microphthalmia-Brain Atrophy Syndrome
Cerebellar vermis atrophy, Generalized myoclonic seizure, Corpus callosum atrophy, Tongue thrusti... ORPHA:77299
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Myoclonus, Tremor, Writer's cramp, Focal-on... OMIM:608105
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Cerebral atrophy, Cherry red spot of the macula, Exaggera... ORPHA:309246
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Ataxia, Inability to walk, Cerebral atrophy, Chorea, Involuntary movements, Cerebellar atrophy, S... OMIM:617804
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor, Bilateral tonic-clonic seizure, Seizure, Enhancement of the C-reflex OMIM:615127
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Striatonigral Degeneration, Infantile, Mitochondrial
Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Difficulty walking, Clonus, Poor mo... OMIM:500003
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Myoclonic seizure, Chorea, Epileptic spasm, Bilateral tonic-clonic s... OMIM:616139
Aceruloplasminemia
Torticollis, Ataxia, Blepharospasm, Retinal degeneration, Chorea, Cogwheel rigidity, Anemia, Abno... OMIM:604290
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness, Spasticity, Seizure ORPHA:85336
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Dysmetria, Myoclonus, Abnormal pyramidal sign, Involuntary movements, Cereb... OMIM:619780
Leber Congenital Amaurosis 1
Photophobia, Blindness, Hepatomegaly, Nyctalopia, Reduced visual acuity, Attenuation of retinal b... OMIM:204000
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Seizure, P... OMIM:606777
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Abnormal autonomic nervous system physiology, Spastic paraparesis... OMIM:300894
Immunodeficiency 37
Status epilepticus, Colitis, Infectious encephalitis, Recurrent infections, Seizure, Decreased pr... OMIM:616098
Dravet Syndrome
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... ORPHA:33069
Myoclonus-Dystonia Syndrome
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia ORPHA:36899
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... OMIM:619862
Clcn4-Related X-Linked Intellectual Disability Syndrome
Focal tonic seizure, Cerebral cortical atrophy, Progressive cerebellar ataxia, Self-injurious beh... ORPHA:485350
Congenital Disorder Of Glycosylation, Type In
Ataxia, Hepatomegaly, Reduced visual acuity, Myoclonus, Spasticity, Seizure OMIM:612015
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Seizure OMIM:612016
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Cerebral atrophy, Myoclonus, Atrophy/Degeneration affecting the brainstem, Diffuse... OMIM:614946
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... ORPHA:98763
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, Focal impaired a... OMIM:618587
L-2-Hydroxyglutaric Aciduria
Spastic tetraparesis, Infectious encephalitis, Abnormality of extrapyramidal motor function, Seizure ORPHA:79314
Diaminopentanuria
Ataxia, Cystinuria, Neurodegeneration, Hyperlysinuria, Spasticity, Seizure OMIM:222350
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Developmental And Epileptic Encephalopathy 92
Ataxia, Myoclonus, Spasticity, Cerebral visual impairment, Dystonia, Seizure OMIM:617829
Severe Neurodegenerative Syndrome With Lipodystrophy
Status epilepticus, Ataxia, Neuronal loss in central nervous system, Hepatomegaly, Cerebral atrop... ORPHA:363400
Choroideremia
Granular macular appearance, Choroideremia, Nyctalopia, Constriction of peripheral visual field, ... OMIM:303100
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... ORPHA:98890
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebral cortical atrophy, Self-injurious behavior, Anxiety, Cerebellar hypoplasia, Chorea, Athet... OMIM:619922
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Gliosis, Ataxia, Cerebral atrophy, Decreased nerve condu... OMIM:256600
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis, Hemiparesis, Seizure OMIM:617900
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Chorea, Gait ataxia OMIM:618501
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Blindness, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoath... ORPHA:726
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Cere... OMIM:619028
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Generalized myoclonic seizure, Myoclonus, Seizure OMIM:208700
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Myoclonus, Babinski sign, Pigmentary retinopathy, Truncal ataxia, Optic atrophy, Spastici... OMIM:252011
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Optic disc pallor, Central scotoma, Visual impairment, Macular dystrophy, ... OMIM:616170
Developmental And Epileptic Encephalopathy 40
Cerebral cortical atrophy, Myoclonus, Choreoathetosis, Spasticity, Seizure, Spastic tetraparesis OMIM:617065
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Macular degeneration, C... OMIM:600138
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Crigler-Najjar Syndrome
Jaundice, Infectious encephalitis, Abnormality of the liver, Seizure ORPHA:205
Huntington Disease-Like 1
Gliosis, Cerebral cortical atrophy, Poor fine motor coordination, Dysmetria, Clumsiness, Bradykin... ORPHA:157941
Caribbean Parkinsonism
Cerebral cortical atrophy, Action tremor, Bradykinesia, Abnormal autonomic nervous system physiol... ORPHA:97355
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior ORPHA:356996
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Self-injurious behavior, Convulsive status epilepticus, Stereotypical hand wri... OMIM:618760
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular atrophy, Macular dystrophy, Visual impairment OMIM:600110
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Focal hemiclonic seizure, Tonic seizure, Myoclonus, Hyperkinetic moveme... OMIM:619317
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Cerebral atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Babi... OMIM:610217
Leber Congenital Amaurosis 2
Photophobia, Absent foveal reflex, Nyctalopia, Reduced visual acuity, Attenuation of retinal bloo... OMIM:204100
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure OMIM:618425
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Optic atrophy, Optic disc pallor, ... ORPHA:98768
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... OMIM:308240
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy, Reduced visual acuity, B... OMIM:618770
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Aceruloplasminemia
Torticollis, Apathy, Abnormality of retinal pigmentation, Ataxia, Retinal degeneration, Macular d... ORPHA:48818
Spinocerebellar Ataxia Type 17
Torticollis, Neuronal loss in central nervous system, Ataxia, Blepharospasm, Cerebellar Purkinje ... ORPHA:98759
Zika Virus Disease
Absent foveal reflex, Skin rash, Retinal pigment epithelial mottling, Maculopapular exanthema, Ma... ORPHA:448237
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Self-injurious behavior, Focal impaired awareness seizure, Generalized my... ORPHA:382
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Colitis, Recurrent fungal infections, Viral hepatitis, Recurrent ... OMIM:209920
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... ORPHA:397946
Bilateral Generalized Polymicrogyria
Motor stereotypy, Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizur... ORPHA:208447
Polymyoclonus, Infantile
Myoclonus, Ataxia, Irritability OMIM:263550
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Chorea, Benign Hereditary
Gait disturbance, Anxiety, Chorea OMIM:118700
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Retinal degeneration, Optic atrophy, Choreoathetosis, Aggressive behav... OMIM:300438
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Blindness, Bradykinesia, Dysmetria, Progressive visual loss, Truncal ataxia, Urinary urge... OMIM:601338
Camos Syndrome
Ataxia, Nephrotic syndrome, Brain atrophy, Progressive extrapyramidal movement disorder, Optic at... ORPHA:83472
Macular Dystrophy, Vitelliform, 5
Reduced visual acuity, Vitelliform-like macular lesions, Moderately reduced visual acuity, Centra... OMIM:616152
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Infectious encephalitis, Seizure OMIM:616532
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Friedreich Ataxia
Gait imbalance, Cervical spinal cord atrophy, Inability to walk, Poor fine motor coordination, Li... ORPHA:95
Myopathy With Extrapyramidal Signs
Status epilepticus, Ataxia, Clumsiness, Leukocytosis, Splenomegaly, Chorea, Optic atrophy, Tremor... OMIM:615673
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Aminoaciduria, Dysmetria, Myoclonus, Seizure, Dystonia, Agenesis of corpus callosum OMIM:250620
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Distal sensory imp... OMIM:604218
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dy... OMIM:180210
Optic Atrophy 3, Autosomal Dominant
Reduced visual acuity, Optic atrophy, Tremor, Optic disc pallor, Scotoma, Abnormality of extrapyr... OMIM:165300
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... ORPHA:391411
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Paralysis, Athetosis OMIM:300857
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Myoclonus, Optic atrophy, Spasticity, Seizure, Abnormality of extrapyramidal motor function OMIM:614299
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Migraine, Familial Hemiplegic, 3
Hemiplegia, Photophobia, Hemiparesis, Seizure, Blindness OMIM:609634
Typhoid
Hypertonia, Ataxia, Hepatomegaly, Skin rash, Splenomegaly, Tremor, Infectious encephalitis ORPHA:99745
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Myoclonus, Hypoplasia of th... OMIM:225753
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Pontocerebellar Hypoplasia, Type 2E
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy, Opisthotonus... OMIM:615851
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Lymphadeno... ORPHA:42642
Retinitis Pigmentosa 27
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal... OMIM:613750
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Cerebral visual impairment, Increased cup-to-disc ratio, Myoclonus, Ne... ORPHA:500144
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Se... ORPHA:139485
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased circulating IgG level, Recurrent infections, Recurrent oti... OMIM:618982
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Reduced visual acuity, Ret... OMIM:608051
Leber Congenital Amaurosis 9
Photophobia, Hypermetropia, Nyctalopia, Ultra-low vision with retained light perception, Retinal ... OMIM:608553
Senior-Loken Syndrome 6
Reduced visual acuity, Rod-cone dystrophy, Visual impairment, Stage 5 chronic kidney disease OMIM:610189
Benign Familial Infantile Epilepsy
Status epilepticus, Hypertonia, Focal motor seizure, Focal impaired awareness seizure, Generalize... ORPHA:306
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Cerebral atrophy, Epileptic spasm, Chorea, Generalized-onset seizure, Spasticit... ORPHA:88616
Systemic Lupus Erythematosus 17
Optic neuritis, Lymphopenia, Leukopenia, Anxiety, Autoimmune thrombocytopenia, Chorea, Thrombocyt... OMIM:301080
Gm1 Gangliosidosis
Retinopathy of prematurity, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Abnorm... ORPHA:354
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Anxiety, Parkinsonism, Hyperkinetic movements, Chorea, Tremor,... OMIM:619738
Rift Valley Fever
Paraparesis, Hematuria, Severe viral infection, Uveitis, Scotoma, Jaundice, Macular edema, Elevat... ORPHA:319251
Aspergillosis
Keratitis, Unusual CNS infection, Neutropenia, Invasive pulmonary aspergillosis, Osteomyelitis, S... ORPHA:1163
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Early Myoclonic Encephalopathy
Focal motor seizure, Generalized myoclonic seizure, Myoclonus, Infantile spasms, Focal seizure wi... ORPHA:1935
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Retinal telangiectasia, Gait ataxia, Neurodegeneration, Cerebellar atrophy ORPHA:438134
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Astrocytosis OMIM:172500
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Seizure OMIM:612438
Striatonigral Degeneration, Infantile
Optic atrophy, Choreoathetosis, Spasticity OMIM:271930
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Retinal degeneration, Poor coordination, Ro... ORPHA:391428
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Myoclonus, Anxiety, Tremor OMIM:159900
Developmental And Epileptic Encephalopathy 1
Hypertonia, Erratic myoclonus, Focal motor seizure, Generalized myoclonic seizure, Micropenis, To... OMIM:308350
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum,... ORPHA:79279
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytop... ORPHA:289916
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Cach Syndrome
Optic neuritis, Pancreatitis, Cerebellar vermis atrophy, Limb ataxia, Dysmetria, Cerebral atrophy... ORPHA:135
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Generalized myoclonic seizure, Myoclonus, Spasticity, Seizure OMIM:545000
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Intention tremor, Myoclonus, Dysdiadochokinesis, Dilated fourth ventricle, Cho... ORPHA:251347
Listeriosis
Ataxia, Unusual CNS infection, Myocarditis, Tremor, Pneumonia, Pericarditis, Jaundice, Septic art... ORPHA:533
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Hepatomegaly, Hypospadias, 3-Methylglutaconic aciduria, Infectious enc... ORPHA:1194
Glycine Encephalopathy
Myoclonus, Hyperglycinuria, Agenesis of corpus callosum, Seizure OMIM:605899
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics OMIM:615483
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Gait disturbance, Chorea, Emotional lability OMIM:607674
Pyruvate Dehydrogenase E2 Deficiency
Broad-based gait, Hypertonia, Retinal degeneration, Babinski sign, Anxiety, Neurodegeneration, Ga... ORPHA:79244
Developmental And Epileptic Encephalopathy 17
Athetosis, Cerebral atrophy, Chorea, Generalized tonic seizure OMIM:615473
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Gait ataxia, Seizure OMIM:616540
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Seizure, Irritability OMIM:261630
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Cerebral atrophy, Limb hypertonia, Abnormal pyramidal sign, Chorea, Gait ataxi... ORPHA:500180
Infantile Convulsions And Choreoathetosis
Focal impaired awareness seizure, Experiential epileptic aura, Chorea, Complex febrile seizure, A... ORPHA:31709
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Status epilepticus, Hypertonia, Neuronal loss in central nervous system, Gliosis, Ataxia, Myoclon... OMIM:203700
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor, Seizure OMIM:618075
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Macular dystrophy, Visual ... OMIM:153700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tremor, Impaired v... ORPHA:99947
Schindler Disease, Type I
Optic atrophy, Myoclonus, Spasticity, Seizure OMIM:609241
Supranuclear Palsy, Progressive, 1
Gait imbalance, Senile plaques, Neuronal loss in central nervous system, Apathy, Gliosis, Cerebra... OMIM:601104
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Retinitis Pigmentosa 80
Progressive visual loss, Blindness, Macular atrophy OMIM:617781
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Cerebral atrophy, Self-mutilation, Retinopathy, Cerebellar hypoplasia, Optic atrophy, Tre... OMIM:619422
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Cerebral cortical atrophy, Myoclonus, Babinski sign, Gait disturbance, Seizure, Apraxia, Caudate ... OMIM:618193
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment OMIM:615989
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Colitis, Hemophagocytosis, Spl... ORPHA:540
Sydenham Chorea
Chorea, Hemiballismus, Unsteady gait, Emotional lability, Irritability ORPHA:306731
Optic Atrophy 11
Facial diplegia, Ataxia, Brain atrophy, Dysmetria, Hyperkinetic movements, Cerebellar hypoplasia,... OMIM:617302
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Axona... ORPHA:478029
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Brai... OMIM:619092
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Anxiety, Chorea ORPHA:494541
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Myoclonus, Tremor, Myoclonic status epilepticus, Bilateral tonic-clonic s... OMIM:614018
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Retinitis Pigmentosa 29
Blindness, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612165
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Axonal degeneration, Truncal ataxia, Chorea, Distal sens... OMIM:208920
Dentatorubral Pallidoluysian Atrophy
Optic neuropathy, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb ataxia,... ORPHA:101
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Reduced visual acuity, Peripheral retinal atrophy, Central s... OMIM:136550
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Blindness, Brain atrophy, Myoclonus, Recurrent upper respiratory tract infections, Op... ORPHA:3078
Oculorenocerebellar Syndrome
Spastic diplegia, Choreoathetosis, Retinal degeneration OMIM:257970
Canavan Disease
Blindness, Brain atrophy, Opisthotonus, Abnormal pyramidal sign, Epileptic spasm, Elevated urinar... OMIM:271900
Tay-Sachs Disease
Typical absence seizure, Gliosis, Inability to walk, Focal impaired awareness seizure, Optic atro... ORPHA:845
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Blindness, Reduced visual acuity OMIM:601553
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Cerebral cortical atrophy, Hypoplasia of penis, Recurrent urinary tract infe... ORPHA:847
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic paraparesis, Dysmetria, Generalized myoclonic seizure, Myoclonus, Dysdiadochokine... OMIM:614487
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Leukodystrophy, Hypomyelinating, 11
Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy, Myopia OMIM:616494
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Macular degeneration, Limb ataxia, Dysmetria, Intention tremor, An... ORPHA:284289
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hypermetropia, Ataxia, Pontocerebellar atrophy, Abnormal pyramidal sign, Incoordination, Amblyopi... OMIM:618060
Nephronophthisis 15
Retinal degeneration, Nephronophthisis, Hepatic failure, Seizure, Blindness OMIM:614845
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood ... OMIM:614500
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... OMIM:612736
Krabbe Disease
Hypertonia, Decreased nerve conduction velocity, Decerebrate rigidity, Autoimmune thrombocytopeni... OMIM:245200
Combined Oxidative Phosphorylation Deficiency 27
Status epilepticus, Cerebral cortical atrophy, Microvesicular hepatic steatosis, Cerebral atrophy... OMIM:616672
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Tetraplegia, Babinski sign, Chorea, Optic atrophy, G... OMIM:250100
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Clumsiness, Focal hemiclo... ORPHA:725
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemiplegia, Hypertonia, Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Skin rash, Hepatosp... OMIM:603553
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Retinal Capillary Malformation
Blindness, Vitreous hemorrhage, Central fundal arteriolar microaneurysms, Reduced visual acuity, ... ORPHA:71213
Persistent Placoid Maculopathy
Abnormal macular morphology, Reduced visual acuity, Retinal pigment epithelial mottling, Hypoplas... ORPHA:97341
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Myoclonus, Anxiety, Difficulty walking, Bilateral tonic-clonic seizure OMIM:619191
Coenzyme Q10 Deficiency, Primary, 1
Status epilepticus, Recurrent myoglobinuria, Nephrotic syndrome, Ataxia, Rod-cone dystrophy, Hepa... OMIM:607426
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Parkinsonism, Neurodegeneration, Chorea, Rigi... OMIM:606159
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal thinning, Hypoplasia of the ... OMIM:617406
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis, Cerebral atrophy, Cerebellar atrophy OMIM:616286
3-Methylglutaconic Aciduria, Type Ix
Hypertonia, Cerebral atrophy, Epileptic spasm, Optic atrophy, Choreoathetosis, Aggressive behavio... OMIM:617698
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Ankle clonus, Reduced visual acuit... ORPHA:506353
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Nyctalopia, Retinal pigment epithelial mottling, Color vision defect, Reduced visual... OMIM:304020
Leber Congenital Amaurosis 4
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy,... OMIM:604393
Whipple Disease
Ataxia, Hepatomegaly, Splenomegaly, Myoclonus, Abnormal pyramidal sign, Mediastinal lymphadenopat... ORPHA:3452
Microphthalmia, Isolated 5
Photophobia, Hypermetropia, Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-... OMIM:611040
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Hartnup Disease
Abnormal urinary color, Photophobia, Ataxia, Skin rash, Abnormality of vision, Infectious encepha... ORPHA:2116
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Combined Oxidative Phosphorylation Deficiency 24
Status epilepticus, Neuronal loss in central nervous system, Gliosis, Neurodegeneration, Optic at... OMIM:616239
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Cerebral atrophy, Abnormal pyramidal sign, Neurodegener... OMIM:272750
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Abnormal cerebellum morphology, Ataxia, Hypertonia, Inability to w... ORPHA:300605
Pontocerebellar Hypoplasia, Type 2C
Cerebellar hemisphere hypoplasia, Cerebellar vermis hypoplasia, Chorea OMIM:612390
Severe Canavan Disease
Decerebrate rigidity, Babinski sign, Optic atrophy, Bilateral tonic-clonic seizure, Spasticity, S... ORPHA:314911
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Peho Syndrome
Neuronal loss in central nervous system, Myoclonus, Optic atrophy, Cerebellar atrophy, Seizure OMIM:260565
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination OMIM:130950
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemiplegia, Hypertonia, Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Leukopenia, Thrombo... OMIM:267700
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Anxiety, Rigidity, Chorea, Irritability OMIM:606438
Macular Dystrophy, Patterned, 1
Photophobia, Reticular retinal dystrophy, Nyctalopia, Dark choroid, Choroidal neovascularization,... OMIM:169150
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Cerebellar... OMIM:606183
Legionnaires Disease
Ataxia, Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Hematuria, Myocarditis, Hepatitis,... ORPHA:549
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Choreoathetosis, Spasticity, Spastic tetraplegia, Seizure, Caudate atrophy, Agenes... OMIM:618238
Leber Congenital Amaurosis 12
Abnormality of macular pigmentation, Congenital blindness OMIM:610612
Mitochondrial Dna Depletion Syndrome 17
Status epilepticus, Cerebral atrophy, Chorea, Epilepsia partialis continua, Hemiballismus, Cerebe... OMIM:618567
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal cerebellum morphology, Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkins... OMIM:618317
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Generalized myoclonic seizure, Hand apraxia, Pill-rolling ... ORPHA:3095
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Brain atrophy, Cerebral atrophy, Partial agenesis of the corpus callosum, Pneumonia, Agenesis of ... ORPHA:85179
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Phosphoserine Aminotransferase Deficiency
Hypertonia, Myoclonus, Seizure OMIM:610992
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Myoclonus, Unsteady gait, Seizure, Anemia OMIM:610090
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Status epilepticus, Hypertonia, Cerebral visual impairment, Cerebral atrophy, Opisthotonus, Micro... OMIM:619847
Leukodystrophy, Hypomyelinating, 2
Ataxia, Cerebral atrophy, Focal impaired awareness seizure, Spastic paraparesis, Intention tremor... OMIM:608804
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... OMIM:604484
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Chorea OMIM:611031
Macular Dystrophy, Retinal, 3
Color vision defect, Reduced visual acuity, Retinal pigment epithelial atrophy, Central scotoma, ... OMIM:608850
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Hypertonia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Optic disc pa... OMIM:617964
Japanese Encephalitis
Status epilepticus, Hypertonia, Focal motor seizure, Neutrophilia, Opisthotonus, Respiratory para... ORPHA:79139
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Spastic paraparesis, Dysmetria, Generalized myoclonic seizure, Myoclonus, Dysdiadochokine... ORPHA:313772
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Cerebral Sclerosis, Diffuse, Scholz Type
Spastic paraplegia, Blindness OMIM:302700
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegeneration, Gait disturbance, S... OMIM:615643
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Lymphoproliferative Syndrome 2
EBV meningitis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... OMIM:615122
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Huntington Disease-Like 3
Broad-based gait, Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dys... ORPHA:157946
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Ataxia, Cerebral atrophy, Opisthotonus, Myoclonus, Hypoplasia of the pons, Cerebellar... OMIM:614969
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Dystonia OMIM:619065
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Rigidity, Parkinsonism, Oculogyric crisis, Gait a... ORPHA:101150
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Brain atrophy, Myoclonus, Seizure OMIM:618225
Hyperekplexia 4
Hypertonia, Myoclonus, Cerebral atrophy, Seizure OMIM:618011
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Cerebral atrophy, Poor coordination, Homocystinuria, Seizure, Blindness OMIM:250940
Cimdag Syndrome
Ataxia, Cerebral atrophy, Pontocerebellar atrophy, Cerebellar hypoplasia, Retinal dystrophy, Chor... OMIM:619273
Retinitis Pigmentosa 32
Photophobia, Photoreceptor layer loss on macular OCT, Retinal degeneration, Nyctalopia, Reduced v... OMIM:609913
3-Methylglutaconic Aciduria Type 7
Hypertonia, Cerebral atrophy, Opisthotonus, Myoclonus, Abnormal pyramidal sign, Progressive extra... ORPHA:445038
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis OMIM:614850
Immunodeficiency 31A
Herpes simplex encephalitis OMIM:614892
Retinitis Pigmentosa 30
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Opti... OMIM:607921
Thyrocerebrorenal Syndrome
Nephritis, Myoclonus, Nonprogressive cerebellar ataxia, Renal insufficiency, Seizure, Thrombocyto... ORPHA:3327
Benign Familial Neonatal Epilepsy
Status epilepticus, Generalized tonic seizure, Focal clonic seizure, Limb myoclonus, Simple febri... ORPHA:1949
Dystonia With Ringbinden
Gait disturbance, Chorea OMIM:224550
Geniospasm 1
Chin myoclonus, Anxiety OMIM:190100
Myoclonus, Intractable, Neonatal
Cerebral visual impairment, Myoclonus, Chorea, Athetosis, Seizure OMIM:617235
Bardet-Biedl Syndrome 18
Obesity, Cognitive impairment OMIM:615995
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Retinal degeneration, Babinski sign, Optic atrophy, Tremor, Spasticity, Abnormal pyramida... OMIM:234200
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Cerebral cortical atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells,... OMIM:607596
Sialidosis Type 1
Ataxia, Decreased nerve conduction velocity, Cherry red spot of the macula, Splenomegaly, Retinop... ORPHA:812
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Generalized tonic seizure, Myoclonus, Epileptic spasm, Stereotypical hand wringing, F... ORPHA:289266
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness OMIM:136900
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Retinal flecks, Optic atrophy, Tics, Spasticity, Limb dystonia, Dystonia, V... ORPHA:157850
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Atonic seizure, Focal impaired awareness seizure, Generalized tonic seizure, My... ORPHA:411986
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Nyctalopia,... ORPHA:827
Neurodegeneration With Brain Iron Accumulation 4
Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Neurodegeneration, Abnormal pyramidal si... OMIM:614298
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Paralysis OMIM:605285
Achromatopsia
Photophobia, Hypermetropia, Color vision test abnormality, Absent foveal reflex, Abnormal macular... ORPHA:49382
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Spastic paraparesis, Rhegmatogenous retinal detachmen... ORPHA:40923
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Congenital Stationary Night Blindness
Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... ORPHA:215
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Aminoaciduria, Constriction of peripheral visual field, Abnormal... ORPHA:414
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Reduced visual acuity, Abnormal pyramidal sign, Optic atrophy, Tremor, Seizure, Incoordin... OMIM:614947
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Retinal nerve fiber edema, Retinal telangiectasia, Reduced visual acuity, Central retinal vessel ... OMIM:619382
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... OMIM:619725
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Congenital stationary night blindness, Blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Blindness OMIM:613830
Retinitis Pigmentosa 4
Visual field defect, Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Blindness OMIM:613731
Paroxysmal Kinesigenic Dyskinesia
Chorea, Athetosis, Involuntary movements, Seizure, Focal sensory seizure ORPHA:98809
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Anxiety, Myoclonus, Chorea, Choreoathetosis, Involuntary movemen... OMIM:606703
Retinitis Pigmentosa 33
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial ... OMIM:610359
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Cerebral atrophy, Axonal degeneration, Decreased motor nerve conduction velocity, Babinsk... OMIM:604168
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Retinitis Pigmentosa 76
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:617123
Huntington Disease-Like 3
Ataxia, Frontal cortical atrophy, Abnormal pyramidal sign, Chorea, Spasticity, Unsteady gait, Sei... OMIM:604802
Retinitis Pigmentosa 19
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:601718
Retinoschisis Of Fovea
Hypermetropia, Foveoschisis, Nyctalopia, Rod-cone dystrophy, Visual loss, Mildly reduced visual a... OMIM:268080
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Facial palsy, Vocal cord paralysis OMIM:607641
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Dysmetria, Splenomegaly, Urinary excretion of sialylated ol... OMIM:256550
Macular Dystrophy, Vitelliform, 1
Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Pelizaeus-Merzbacher Disease
Broad-based gait, Apathy, Cerebellar vermis atrophy, Ataxia, Inability to walk, Intention tremor,... OMIM:312080
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Bradykinesia, Cerebral atrophy, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, He... OMIM:618877
Nasu-Hakola Disease
Cerebral cortical atrophy, Chorea, Spasticity, Seizure, Oculomotor apraxia, Acute leukemia, Irrit... ORPHA:2770
Acute Disseminated Encephalomyelitis
Ataxia, Optic neuritis, Viral hepatitis, Herpes simplex encephalitis, Atypical absence status epi... ORPHA:83597
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Apathy, Neuronal loss in central nervous system, Glio... OMIM:105550
Angelman Syndrome
Status epilepticus, Happy demeanor, Ataxia, Inability to walk, Infantile spasms, Tongue thrusting... ORPHA:72
Butyrylcholinesterase Deficiency
Paralysis, Abnormality of the liver, Chronic infection ORPHA:132
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Ataxia, Hepatomegaly, Cerebral atrophy, Generalized non-motor (absence) sei... OMIM:613839
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Photophobia, Ataxia, Color vision defect, Reduced visual acuity, Myoclonic seizure, Optic disc pa... OMIM:616732
Retinitis Pigmentosa 1
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:180100
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Seizure ORPHA:166063
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Developmental And Epileptic Encephalopathy 64
Status epilepticus, Cerebral cortical atrophy, Inability to walk, Limb hypertonia, Cerebellar hyp... OMIM:618004
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Rigidity, Hyperkinetic movements, Chor... ORPHA:13
Striatal Degeneration, Autosomal Dominant 2
Parkinsonism, Chorea OMIM:616922
L-2-Hydroxyglutaric Aciduria
Gliosis, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Corpus callosum a... OMIM:236792
Alpha-N-Acetylgalactosaminidase Deficiency
Cerebral cortical atrophy, Oligosacchariduria, Clonus, Spasticity, Recurrent pneumonia, Seizure, ... ORPHA:3137
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Ataxia, Cerebral atrophy, Myoclonus, Spasticity, Cerebellar atrophy, Seizure OMIM:618426
D-Glyceric Aciduria
Status epilepticus, Cerebral cortical atrophy, Opisthotonus, Focal clonic seizure, Optic nerve hy... OMIM:220120
Cone-Rod Dystrophy 12
Nyctalopia, Color vision defect, Reduced visual acuity, Cone/cone-rod dystrophy, Central scotoma,... OMIM:612657
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Gliosis, Cerebral atrophy, Myoclonus, Infantile spasms, Neurodegeneration, Chorea, Pancyt... OMIM:618321
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Blindness, Cerebral atrophy, Infantile spasms, Partial agenesis of the corpus callosum, L... ORPHA:79243
Pontocerebellar Hypoplasia, Type 2B
Cerebral atrophy, Opisthotonus, Tonic seizure, Extrapyramidal dyskinesia, Limb hypertonia, Babins... OMIM:612389
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Cerebellar hypoplasia, Neurodegeneration, Optic atrophy, Spasticity, Spastic te... OMIM:618476
Macular Dystrophy, Vitelliform, 3
Photophobia, Reduced visual acuity, Vitelliform-like macular lesions, Choroidal neovascularizatio... OMIM:608161
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, Myoclonus, Truncal ataxia, Febrile sei... OMIM:613855
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Tip-toe gait, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Abno... ORPHA:83629
Juvenile Sialidosis Type 2
Ataxia, Loss of ambulation, Cherry red spot of the macula, Dysmetria, Generalized myoclonic seizu... ORPHA:93399
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Hemiparesis, Infectious encephalitis, Seizure, Chorioretinal... ORPHA:2481
Cone-Rod Dystrophy 2
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Chorioretinal atrophy, ... OMIM:120970
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Reduced visual acuity, Babinski sign, Opt... OMIM:270500
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunc... ORPHA:309271
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Epididymitis, Decreased circulating IgE, Septic arthritis, Decreased circu... OMIM:300755
Beh├žet Disease
Ataxia, Pancreatitis, Increased inflammatory response, Acne, Pericarditis, Splenomegaly, Retinopa... ORPHA:117
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Visual impairment, Retinal dystrophy, Micropenis OMIM:610156
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Amaurosis fugax, Diplopia, Reduced visual acuity, Blurred vision, Parkinsoni... ORPHA:140989
Retinitis Pigmentosa 90
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:619007
Usher Syndrome Type 1
Ataxia, Cerebral cortical atrophy, High hypermetropia, Nyctalopia, Hemianopia, Visual loss, Subco... ORPHA:231169
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Reduced visual acuity, Babinski sign, ... ORPHA:101111
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Lymphocytosis, Pustule, Acute hepatic failure, Skin rash, Eosinophilia, Inter... ORPHA:139402
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Apathy, Gliosis, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... ORPHA:275872
Retinitis Pigmentosa 35
Blindness, Nyctalopia, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:610282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Retinal dysplasia, Optic nerve dysplasia, Renal cyst, Spasticity, Hydronephrosis, Sei... OMIM:615287
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Difficulty walking, Inability to walk, Seizure, Astrocytosis OMIM:611087
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Bacterial Toxic-Shock Syndrome
Myocarditis, Severe viral infection, Pneumonia, Septic arthritis, Osteomyelitis, Peritonitis, Rec... ORPHA:36234
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Cataract 11, Multiple Types
Hypertonia, Blindness, Chorea OMIM:610623
Hyperglycinemia, Lactic Acidosis, And Seizures
Myoclonus, Cerebral atrophy, Spastic tetraplegia, Seizure OMIM:614462
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Meningococcal Meningitis
Photophobia, Skin rash, Papilledema, Infectious encephalitis, Renal insufficiency, Seizure ORPHA:33475
Spinocerebellar Ataxia 47
Ataxia, Cerebellar vermis atrophy, Dysmetria, Chorea, Spasticity, Seizure OMIM:617931
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebral atrophy, Rod-cone dystrophy, Limb hypertonia, Choreoathetosis, Cerebellar atrophy OMIM:618247
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Emotional lability OMIM:309585
Retinitis Pigmentosa 78
Visual field defect, Cystoid macular edema, Nyctalopia, Reduced visual acuity, Optic disc pallor,... OMIM:617433
Retinitis Pigmentosa 38
Nyctalopia, Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy, P... OMIM:613862
Microsporidiosis
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneum... ORPHA:2552
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Myoclonus, Optic atrophy, Seizure, Spastic tetraparesis OMIM:614261
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Leber Congenital Amaurosis 13
Reduced visual acuity, Attenuation of retinal blood vessels, Retinal dystrophy, Optic disc pallor... OMIM:612712
Retinitis Pigmentosa 2
Ring scotoma, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pericentra... OMIM:312600
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fascicu... OMIM:608030
Retinitis Pigmentosa 54
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Fundus atrophy, Bone spicul... OMIM:613428
Retinitis Pigmentosa 37
Cystoid macular degeneration, Photophobia, Nyctalopia, Rod-cone dystrophy, Tritanomaly, Red-green... OMIM:611131
D-Glyceric Aciduria
Cerebral visual impairment, Hyperglycinuria, Brain atrophy, Myoclonus, Chorea, Spasticity, Seizure ORPHA:941
Cockayne Syndrome Type 3
Brain atrophy, Retinal degeneration, Splenomegaly, Intention tremor, Retinal hemorrhage, Retinal ... ORPHA:90324
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Sensory ataxia, Hypoesthesia, Dysmetria, Retinal pigment epithelial mot... OMIM:607459
Spinocerebellar Ataxia, X-Linked 3
Neuronal loss in central nervous system, Gliosis, Dysmetria, Intention tremor, Unilateral vocal c... OMIM:301790
Q Fever
Unusual infection, Osteomyelitis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Hepatosple... ORPHA:781
Leigh Syndrome With Cardiomyopathy
Hypertonia, Ataxia, Retinopathy, Basal ganglia gliosis, Chorea, Optic atrophy, Involuntary moveme... ORPHA:70474
Choroideremia
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment, Progressive visual loss, Abno... ORPHA:180
Cone-Rod Dystrophy 15
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... OMIM:613660
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... ORPHA:454887
Mitochondrial Complex I Deficiency, Nuclear Type 31
Myoclonus, Recurrent respiratory infections, Dysmetria, Seizure OMIM:618251
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Classic Pantothenate Kinase-Associated Neurodegeneration
Opisthotonus, Rod-cone dystrophy, Aspiration pneumonia, Pigmentary retinopathy, Frequent falls, O... ORPHA:216866
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:139426
Retinitis Pigmentosa 47
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment OMIM:613758
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Obesity OMIM:615990
Infantile Krabbe Disease
Decreased nerve conduction velocity, Cherry red spot of the macula, Generalized myoclonic seizure... ORPHA:206436
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Photophobia, Absent foveal reflex, Hypoautofluorescent ... OMIM:619531
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis OMIM:608634
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Color vision defect, Retinal dystrophy, Scotoma, Visual impairment OMIM:607476
Retinitis Pigmentosa 20
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely... OMIM:613794