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 |
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Abnormality of retinal pigmentation, Hemiparesis, Infectious encephalitis, Seizure, Chorioretinal... |
ORPHA:2481 |
Cone-Rod Dystrophy 2 |
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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 |
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Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Reduced visual acuity, Babinski sign, Opt... |
OMIM:270500 |
Metachromatic Leukodystrophy, Adult Form |
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Clumsiness, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunc... |
ORPHA:309271 |
Agammaglobulinemia, X-Linked |
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Enteroviral hepatitis, Epididymitis, Decreased circulating IgE, Septic arthritis, Decreased circu... |
OMIM:300755 |
Behçet Disease |
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Ataxia, Pancreatitis, Increased inflammatory response, Acne, Pericarditis, Splenomegaly, Retinopa... |
ORPHA:117 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
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Reduced visual acuity, Visual impairment, Retinal dystrophy, Micropenis |
OMIM:610156 |
Primary Angiitis Of The Central Nervous System |
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Paraparesis, Ataxia, Amaurosis fugax, Diplopia, Reduced visual acuity, Blurred vision, Parkinsoni... |
ORPHA:140989 |
Retinitis Pigmentosa 90 |
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Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... |
OMIM:619007 |
Usher Syndrome Type 1 |
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Ataxia, Cerebral cortical atrophy, High hypermetropia, Nyctalopia, Hemianopia, Visual loss, Subco... |
ORPHA:231169 |
Spinocerebellar Ataxia Type 25 |
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Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Reduced visual acuity, Babinski sign, ... |
ORPHA:101111 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Nephrotic syndrome, Lymphocytosis, Pustule, Acute hepatic failure, Skin rash, Eosinophilia, Inter... |
ORPHA:139402 |
Frontotemporal Dementia With Motor Neuron Disease |
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Paraparesis, Apathy, Gliosis, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... |
ORPHA:275872 |
Retinitis Pigmentosa 35 |
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Blindness, Nyctalopia, Rod-cone dystrophy, Cone/cone-rod dystrophy |
OMIM:610282 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Micropenis, Retinal dysplasia, Optic nerve dysplasia, Renal cyst, Spasticity, Hydronephrosis, Sei... |
OMIM:615287 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
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Difficulty walking, Inability to walk, Seizure, Astrocytosis |
OMIM:611087 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
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Obesity, Cognitive impairment |
OMIM:619058 |
Temporal Arteritis |
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Blindness, Retinal arteritis |
OMIM:187360 |
Bacterial Toxic-Shock Syndrome |
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Myocarditis, Severe viral infection, Pneumonia, Septic arthritis, Osteomyelitis, Peritonitis, Rec... |
ORPHA:36234 |
Myoclonic-Atonic Epilepsy |
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Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Cataract 11, Multiple Types |
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Hypertonia, Blindness, Chorea |
OMIM:610623 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
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Myoclonus, Cerebral atrophy, Spastic tetraplegia, Seizure |
OMIM:614462 |
Spermatogenic Failure, X-Linked, 1 |
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Obesity |
OMIM:305700 |
Meningococcal Meningitis |
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Photophobia, Skin rash, Papilledema, Infectious encephalitis, Renal insufficiency, Seizure |
ORPHA:33475 |
Spinocerebellar Ataxia 47 |
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Ataxia, Cerebellar vermis atrophy, Dysmetria, Chorea, Spasticity, Seizure |
OMIM:617931 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
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Cerebral atrophy, Rod-cone dystrophy, Limb hypertonia, Choreoathetosis, Cerebellar atrophy |
OMIM:618247 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
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Obesity, Emotional lability |
OMIM:309585 |
Retinitis Pigmentosa 78 |
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Visual field defect, Cystoid macular edema, Nyctalopia, Reduced visual acuity, Optic disc pallor,... |
OMIM:617433 |
Retinitis Pigmentosa 38 |
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Nyctalopia, Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy, P... |
OMIM:613862 |
Microsporidiosis |
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Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneum... |
ORPHA:2552 |
Myoclonus, Familial, 2 |
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Limb myoclonus |
OMIM:618364 |
Epilepsy, Familial Adult Myoclonic, 6 |
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Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
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Hemifacial spasm |
OMIM:141405 |
Microcephaly-Capillary Malformation Syndrome |
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Cerebral atrophy, Myoclonus, Optic atrophy, Seizure, Spastic tetraparesis |
OMIM:614261 |
Parasomnia, Sleep Bruxism Type |
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Myoclonus |
OMIM:606840 |
Leber Congenital Amaurosis 13 |
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Reduced visual acuity, Attenuation of retinal blood vessels, Retinal dystrophy, Optic disc pallor... |
OMIM:612712 |
Retinitis Pigmentosa 2 |
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Ring scotoma, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pericentra... |
OMIM:312600 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
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Gait disturbance, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fascicu... |
OMIM:608030 |
Retinitis Pigmentosa 54 |
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Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Fundus atrophy, Bone spicul... |
OMIM:613428 |
Retinitis Pigmentosa 37 |
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Cystoid macular degeneration, Photophobia, Nyctalopia, Rod-cone dystrophy, Tritanomaly, Red-green... |
OMIM:611131 |
D-Glyceric Aciduria |
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Cerebral visual impairment, Hyperglycinuria, Brain atrophy, Myoclonus, Chorea, Spasticity, Seizure |
ORPHA:941 |
Cockayne Syndrome Type 3 |
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Brain atrophy, Retinal degeneration, Splenomegaly, Intention tremor, Retinal hemorrhage, Retinal ... |
ORPHA:90324 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Broad-based gait, Ataxia, Sensory ataxia, Hypoesthesia, Dysmetria, Retinal pigment epithelial mot... |
OMIM:607459 |
Spinocerebellar Ataxia, X-Linked 3 |
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Neuronal loss in central nervous system, Gliosis, Dysmetria, Intention tremor, Unilateral vocal c... |
OMIM:301790 |
Q Fever |
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Unusual infection, Osteomyelitis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Hepatosple... |
ORPHA:781 |
Leigh Syndrome With Cardiomyopathy |
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Hypertonia, Ataxia, Retinopathy, Basal ganglia gliosis, Chorea, Optic atrophy, Involuntary moveme... |
ORPHA:70474 |
Choroideremia |
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Abnormality of retinal pigmentation, Nyctalopia, Visual impairment, Progressive visual loss, Abno... |
ORPHA:180 |
Cone-Rod Dystrophy 15 |
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Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... |
OMIM:613660 |
Corticobasal Syndrome |
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Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... |
ORPHA:454887 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
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Myoclonus, Recurrent respiratory infections, Dysmetria, Seizure |
OMIM:618251 |
Epilepsy, Myoclonic Juvenile |
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Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... |
OMIM:254770 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Opisthotonus, Rod-cone dystrophy, Aspiration pneumonia, Pigmentary retinopathy, Frequent falls, O... |
ORPHA:216866 |
Triglyceride Storage Disease, Type Ii |
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Obesity |
OMIM:190430 |
Perioral Myoclonia With Absences |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:139426 |
Retinitis Pigmentosa 47 |
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Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment |
OMIM:613758 |
Bardet-Biedl Syndrome 13 |
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Bone spicule pigmentation of the retina, Obesity |
OMIM:615990 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Cherry red spot of the macula, Generalized myoclonic seizure... |
ORPHA:206436 |
Cone-Rod Dystrophy 22 |
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Perifoveal ring of hyperautofluorescence, Photophobia, Absent foveal reflex, Hypoautofluorescent ... |
OMIM:619531 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
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Difficulty walking, Paralysis |
OMIM:608634 |
Newfoundland Rod-Cone Dystrophy |
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Nyctalopia, Color vision defect, Retinal dystrophy, Scotoma, Visual impairment |
OMIM:607476 |
Retinitis Pigmentosa 20 |
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Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely... |
OMIM:613794 |