Gene: Ppt1 MGI:1298204

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Ppt1 (1 diseases)
Human diseases predicted to be associated with Ppt1 (1262 diseases)

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	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
Behçet 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

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