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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 (1259 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, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocytes, Optic atrophy, Ce...	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, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l...	OMIM:204500
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Optic atrophy, Gait...	ORPHA:225154
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte...	OMIM:256731
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Parkinsonism, Increased neuronal autofluorescent lipopigment, Inc...	OMIM:204200
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocytes, Optic atrophy, Ce...	OMIM:256730
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Clumsiness, Depre...	ORPHA:216873
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener...	OMIM:610951
Combined Saposin Deficiency	Generalized clonic seizure, Splenomegaly, Babinski sign, Optic atrophy, Hyperkinetic movements, M...	OMIM:611721
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Rod-cone dystrophy, Unsteady gait, Ch...	OMIM:301020
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami...	ORPHA:282166
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Optic atrophy, Choreoathetosis, Irritability, Status epilepticus,...	OMIM:609056
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d...	OMIM:164500
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebral atrophy, Generalized myoclonic seizure, Abnormal pyramidal sign, Optic atrophy, ...	ORPHA:352596
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra...	ORPHA:95434
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Foc...	OMIM:615362
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Myoclonus	OMIM:619303
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigm...	OMIM:162350
Developmental And Epileptic Encephalopathy 16	Clonic seizure, Optic atrophy, Cerebral atrophy, Hemiparesis, Status epilepticus, Myoclonus, Abno...	OMIM:615338
Huntington Disease-Like 1	Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Depression, Mania, Basal ganglia glio...	OMIM:603218
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei...	OMIM:600143
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, ...	OMIM:605259
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, C...	OMIM:607136
3-Methylglutaconic Aciduria, Type Iii	Ataxia, Chorea, Babinski sign, Optic atrophy, Abnormality of extrapyramidal motor function, Spast...	OMIM:258501
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Depression, Gliosis, Ne...	OMIM:143100
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ba...	ORPHA:644
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure...	OMIM:616981
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Giant som...	OMIM:618876
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Ce...	ORPHA:263516
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Rigidity, Inability to walk, Optic atrophy, Seizure, Athetosis, Irritability,...	OMIM:618241
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tetr...	OMIM:615924
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Chorea, Optic...	ORPHA:79097
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Blindness, Generalized-onset seizure, Ataxia, Increased neuronal autofluoresc...	ORPHA:79263
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g...	ORPHA:254343
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Focal-ons...	OMIM:204300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,...	OMIM:616230
Sorsby Pseudoinflammatory Fundus Dystrophy	Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar...	ORPHA:59181
Developmental And Epileptic Encephalopathy 69	Cerebral visual impairment, Corpus callosum atrophy, Spastic tetraplegia, Hyperkinetic movements,...	OMIM:618285
Behavioral Variant Of Frontotemporal Dementia	Bilateral tonic-clonic seizure, Astrocytosis, Frontotemporal cerebral atrophy, Irritability, Abno...	ORPHA:275864
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex...	ORPHA:204
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seizure, Frontotemporal cerebral atroph...	ORPHA:391417
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Blindness, Cerebral atrophy, Seizure, Dystonia, Spasticity	OMIM:617899
Pontocerebellar Hypoplasia, Type 2D	Appendicular spasticity, Cerebellar atrophy, Clonus, Chorea, Spastic tetraplegia, Cerebral atroph...	OMIM:613811
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Neuronal loss in central nerv...	OMIM:600795
Hemimegalencephaly	Epileptic spasm, Optic atrophy, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, S...	ORPHA:99802
Congenital Disorder Of Glycosylation, Type In	Hepatomegaly, Ataxia, Reduced visual acuity, Cerebral atrophy, Seizure, Myoclonus, Recurrent lowe...	OMIM:612015
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Visual loss, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapy...	ORPHA:79262
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign,...	OMIM:614322
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys...	OMIM:614860
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera...	ORPHA:2590
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar vermis, Slu...	ORPHA:98755
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Retinopathy, Spastic ga...	ORPHA:306511
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Inc...	OMIM:610539
Cerebral Visual Impairment	Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Unusual CNS infection, ...	ORPHA:447788
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens...	ORPHA:86909
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizur...	ORPHA:248111
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Recurrent respiratory infections, Bilateral tonic-clonic seizure, Splenomegaly, Myo...	ORPHA:139406
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Recurrent respiratory infections, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure,...	OMIM:618497
Neuropathy, Ataxia, And Retinitis Pigmentosa	Blindness, Ataxia, Retinal pigment epithelial mottling, Seizure, Corticospinal tract atrophy, Rod...	OMIM:551500
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Bietti Crystalline Dystrophy	Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec...	ORPHA:41751
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p...	OMIM:612319
Huntington Disease-Like 2	Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Gait disturbance, Cerebral cortical...	ORPHA:98934
Peho-Like Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Status epilepticus, Myoclonus	OMIM:617507
Focal Cortical Dysplasia, Type Ii	Cognitive impairment, Astrocytosis	OMIM:607341
Myoclonus, Intractable, Neonatal	Optic disc pallor, Clonic seizure, Chorea, Athetosis, Myoclonus, Dandy-Walker malformation	OMIM:617235
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Spastic Paraplegia 79B, Autosomal Recessive	Hoffmann sign, Opto-chiasmatic atrophy, Impaired proprioception, Dysmetria, Loss of ambulation, I...	OMIM:615491
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Tremor, Chorea, Babinsk...	OMIM:618093
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu...	ORPHA:77299
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig...	OMIM:236792
Sandhoff Disease	Hepatomegaly, Blindness, Recurrent respiratory infections, Ataxia, Splenomegaly, Seizure, Cherry ...	ORPHA:796
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Blindness, Optic atrophy, Seizure, Severely reduced visual acuity, Spasticity	OMIM:309555
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Upper motor neuron dysfunc...	ORPHA:401901
Benign Adult Familial Myoclonic Epilepsy	Generalized-onset seizure, Focal-onset seizure, Hand tremor, Myoclonus, Amaurosis fugax	ORPHA:86814
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic atrophy, Spastic diplegi...	ORPHA:401866
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor c...	ORPHA:79264
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Optic atrophy, Myoclonus, Cerebral atrophy	OMIM:619057
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus	ORPHA:36899
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Epileptic spasm, Oculogyric crisis, Cerebral visual impairment, Chorea, Cereb...	OMIM:614254
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,...	OMIM:617282
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking, Giant...	OMIM:613608
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus	OMIM:125370
Huntington Disease	Caudate atrophy, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sig...	ORPHA:399
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure	OMIM:611092
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual...	ORPHA:85128
Creutzfeldt-Jakob Disease	Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Depre...	OMIM:123400
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, ...	OMIM:616505
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasc...	OMIM:159950
Spinocerebellar Ataxia 2	Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Fasciculations, Myoclonus, Oculomo...	OMIM:183090
Microcephaly, Amish Type	Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, O...	OMIM:607196
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig...	OMIM:620158
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetria, Gait ataxia, D...	ORPHA:254881
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Corpus callosum atrophy, Focal-onset ...	ORPHA:168491
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Euphoria, Seizure, Lateral ventricle dilatation...	OMIM:221770
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab...	OMIM:256600
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella...	ORPHA:98756
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykine...	ORPHA:314632
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Seizure, Hemiparesis...	ORPHA:71277
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin...	OMIM:614498
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Atrophy/Deg...	OMIM:619971
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr...	OMIM:608105
Immunodeficiency 83, Susceptibility To Viral Infections	Meningitis, Herpes simplex encephalitis, Gliosis	OMIM:613002
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb...	OMIM:164400
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei...	ORPHA:98811
Pontocerebellar Hypoplasia, Type 2A	Hypoplasia of the pons, Chorea, Optic atrophy, Opisthotonus, Seizure, Gliosis, Cerebellar hypopla...	OMIM:277470
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Tremor, Splenomegaly, Myocarditis, Lymphadenopa...	ORPHA:83317
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce...	ORPHA:309246
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Tremor, Seizure, Abnormality of macular pigmentation, My...	ORPHA:97229
Nipah Virus Disease	Tremor, Recurrent pharyngitis, Seizure, Myoclonus, Infectious encephalitis	ORPHA:99825
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei...	OMIM:616139
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clu...	ORPHA:157941
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ...	OMIM:613750
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
New-Onset Refractory Status Epilepticus	Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal...	ORPHA:363558
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor...	OMIM:617493
Aceruloplasminemia	Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Anemia, Abnormality of extrapyrami...	OMIM:604290
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Tremor, Seizure, Myoclonus, Enhancement of the C-reflex	OMIM:615127
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co...	OMIM:616544
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myo...	OMIM:606777
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen...	ORPHA:33069
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy	OMIM:618501
Cln3 Disease	Cerebellar atrophy, Blindness, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, ...	ORPHA:228346
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degenerati...	OMIM:619780
X-Linked Neurodegenerative Syndrome, Hamel Type	Seizure, Spasticity, Blindness	ORPHA:85336
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia...	ORPHA:98890
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, C...	ORPHA:208447
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Optic disc hypoplasia, Infantile spasms, Focal-onset seizure, Ina...	ORPHA:561854
Mepan Syndrome	Cerebellar atrophy, Ataxia, Chorea, Optic atrophy, Cerebral atrophy, Gait disturbance, Myoclonus,...	ORPHA:508093
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Seizur...	OMIM:213600
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Difficulty walking, Progres...	ORPHA:401768
Immunodeficiency 37	Recurrent infections, Seizure, Colitis, Status epilepticus, Decreased proportion of central memor...	OMIM:616098
Diaminopentanuria	Ataxia, Cystinuria, Seizure, Hyperlysinuria, Neurodegeneration, Spasticity	OMIM:222350
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus, Frontal cortical atrophy	OMIM:300699
Choroideremia	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d...	OMIM:303100
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire...	OMIM:615400
L-2-Hydroxyglutaric Aciduria	Seizure, Abnormality of extrapyramidal motor function, Infectious encephalitis, Spastic tetraparesis	ORPHA:79314
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa...	ORPHA:98810
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Cach Syndrome	Cerebellar atrophy, Blindness, Optic atrophy, Renal hypoplasia, Cerebral atrophy, Dysmetria, Trun...	ORPHA:135
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Spastic Paraplegia 82, Autosomal Recessive	Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Babinski sign, Optic ...	OMIM:618770
Developmental And Epileptic Encephalopathy 40	Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity, Cerebral cortical atrophy	OMIM:617065
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral...	OMIM:600138
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Hemiparesis, Seizure, Herpes simplex encephalitis, Meningitis	OMIM:617900
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus	OMIM:208700
Developmental And Epileptic Encephalopathy 92	Ataxia, Cerebral visual impairment, Seizure, Myoclonus, Dystonia, Spasticity	OMIM:617829
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple...	OMIM:613721
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, G...	ORPHA:485350
Alpers-Huttenlocher Syndrome	Blindness, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoatheto...	ORPHA:726
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Babinski sign, Optic atrophy, Seizure, Pigmentary retinopathy, Myoclonus, Truncal ataxia,...	OMIM:252011
Crigler-Najjar Syndrome	Seizure, Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, S...	OMIM:610217
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Severe Neurodegenerative Syndrome With Lipodystrophy	Limb dystonia, Hepatomegaly, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal p...	ORPHA:363400
Gordon Holmes Syndrome	Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy	OMIM:212840
Developmental And Epileptic Encephalopathy 17	Inability to walk, Chorea, Focal tonic seizure, Cerebral atrophy, Athetosis, Generalized tonic se...	OMIM:615473
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements	OMIM:618425
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, A...	ORPHA:98759
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at...	ORPHA:98768
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,...	OMIM:619028
Huntington Disease-Like 2	Rigidity, Chorea, Depression, Bradykinesia, Irritability, Cerebral cortical atrophy, Action tremor	OMIM:606438
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Constriction of peripheral visu...	OMIM:613861
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N...	OMIM:620342
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Blindness, Incoordination, Ataxia, Dystonia, Visual loss, Optic atrophy, Dysmetria, Gait ataxia, ...	OMIM:601338
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Leukocytosis, Optic atrophy, Clumsiness, Choreoathe...	OMIM:615673
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis	OMIM:300857
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Fulm...	OMIM:308240
Polymyoclonus, Infantile	Irritability, Ataxia, Myoclonus	OMIM:263550
Behr Syndrome	Cerebellar atrophy, Blindness, Ataxia, Tremor, Babinski sign, Optic atrophy, Hypoplastic optic ch...	OMIM:210000
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Maculopapular exanthema, Skin rash, Retinal pigment epith...	ORPHA:448237
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl...	OMIM:620352
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-...	OMIM:618917
Macular Dystrophy, Patterned, 1	Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:169150
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizur...	OMIM:612016
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a...	OMIM:613731
Friedreich Ataxia	Decreased motor nerve conduction velocity, Inability to walk, Chorea, Babinski sign, Optic atroph...	ORPHA:95
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Distal sensory impairment, Seizure, Abnormality of extrapyramidal motor functio...	OMIM:604218
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Scotoma, Tremor, Optic atrophy, Reduced visual acuity, Abnormality of extrapyr...	OMIM:165300
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Spastic tetraple...	OMIM:617864
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi...	OMIM:180210
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s...	OMIM:619606
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Seizure, Herpes simplex encephalitis	OMIM:616532
Developmental And Epileptic Encephalopathy 1	Dystonia, Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset seizure, Abnormal py...	OMIM:308350
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Typhoid	Hepatomegaly, Ataxia, Skin rash, Tremor, Splenomegaly, Hypertonia, Infectious encephalitis	ORPHA:99745
Striatonigral Degeneration, Infantile	Choreoathetosis, Spasticity, Optic atrophy	OMIM:271930
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, N...	OMIM:615889
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hemiplegia/hemiparesis, Chorea, Thrombocytopenia, Optic atrophy, Choreoathetosis, Neutropenia, An...	ORPHA:289916
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Focal motor status epilepticus, Focal-onset seizure, Chorea, Poor coordination, Seizure, ...	OMIM:619150
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ...	ORPHA:99947
Chorea, Benign Hereditary	Chorea, Frequent falls, Gait disturbance	OMIM:118700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection...	OMIM:618982
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer...	OMIM:607346
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Cerebral visual impairment, Babinski sign, Spastic tetraplegia, Cerebral ...	OMIM:619847
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni...	OMIM:615851
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder, Epileptic spasm, Cerebral visual impairment, Partial agenesis of the corpus c...	ORPHA:500144
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoc...	ORPHA:139485
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha...	ORPHA:42642
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic mo...	OMIM:619738
Infantile Convulsions And Choreoathetosis	Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Athetosis, Complex ...	ORPHA:31709
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Vitritis, Hepatitis, Bronchiectasis...	ORPHA:1163
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Seizure, Myoclonus	OMIM:217200
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Neurogenic bladder, Epileptic spasm, Cerebral visual impairment, Optic a...	OMIM:617669
Gm1 Gangliosidosis	Recurrent respiratory infections, Blindness, Generalized dystonia, Bilateral tonic-clonic seizure...	ORPHA:354
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr...	ORPHA:100070
Pontocerebellar Hypoplasia, Type 4	Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, Hypertonia, Gli...	OMIM:225753
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Retinal telangiectasia, Neurodegeneration, Gait ataxia	ORPHA:438134
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Blindness, Spastic tetraparesis, Visual loss, Poor coordination, Optic ...	ORPHA:391428
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme...	ORPHA:251347
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Emotional lability, Chorea, Gait disturbance	OMIM:607674
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Progressive spastic paraparesis, C...	ORPHA:506353
Migraine, Familial Hemiplegic, 3	Blindness, Hemiparesis, Seizure, Photophobia, Hemiplegia	OMIM:609634
Tay-Sachs Disease	Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Cherry red spot of the ...	ORPHA:845
Infantile Spasms Syndrome	Myoclonus, Infantile spasms	ORPHA:3451
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ...	OMIM:608051
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Wide anterior fontanel, Myoclonic seizure, Hypertonia, Myoclonus	OMIM:618240
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Rift Valley Fever	Uveitis, Photophobia, Decerebrate rigidity, Infectious encephalitis, Paralysis, Hepatitis, Macula...	ORPHA:319251
Early Myoclonic Encephalopathy	Recurrent respiratory infections, Infantile spasms, Focal seizure with eyelid myoclonia, Focal to...	ORPHA:1935
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness, Ataxia, Myoclonic seizure, Seizure, Myoclonus, Brain atrophy, Spasticity	OMIM:618225
Dystonia 15, Myoclonic	Writer's cramp, Myoclonus, Dystonia	OMIM:607488
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Seizure, 3-Methylglutaconic aciduria, Infectious encephalitis, Cerebra...	ORPHA:1194
Listeriosis	Liver abscess, Tremor, Granulomatosis, Conjunctivitis, Cholecystitis, Meningitis, Infectious ence...	ORPHA:533
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity	OMIM:545000
Nephronophthisis 15	Elevated hepatic transaminase, Blindness, Seizure, Nephronophthisis, Retinal degeneration	OMIM:614845
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Seizure, Irritability, Hypertonia, Myoclonus	OMIM:261630
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Seizure, Abnormality of extrapyra...	ORPHA:79279
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Irritability, H...	OMIM:617290
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Depression, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait di...	OMIM:615643
Leber Congenital Amaurosis 1	Hepatomegaly, Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Ph...	OMIM:204000
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu...	OMIM:614018
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Sydenham Chorea	Chorea, Unsteady gait, Irritability, Hemiballismus, Emotional lability	ORPHA:306731
Continuous Spikes And Waves During Sleep	Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset s...	ORPHA:725
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Ataxia, Tremor, Chorea, Axonal degeneration, Impaired distal vibration sensat...	OMIM:208920
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, Babinski sign, Seizure, Gait disturbance, Myoclonus, Apraxia, Cerebral cortical ...	OMIM:618193
Glycine Encephalopathy 1	Seizure, Agenesis of corpus callosum, Hyperglycinuria, Myoclonus	OMIM:605899
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Chorea, Spastic tetraplegia, Seizure, Athetosis, Cerebellar hypoplasia, Cereb...	OMIM:619922
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Hsd10 Mitochondrial Disease	Optic atrophy, Spastic tetraplegia, Choreoathetosis, Seizure, Spasticity, Cerebral cortical atrop...	OMIM:300438
Oculorenocerebellar Syndrome	Choreoathetosis, Spastic diplegia, Retinal degeneration	OMIM:257970
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Optic neuropathy, Poor coordination, Axonal degeneration, Neurode...	ORPHA:478029
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro...	OMIM:612736
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja...	ORPHA:540
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (...	OMIM:607682
Epilepsy, Progressive Myoclonic, 12	Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Difficulty walking	OMIM:619191
Schindler Disease, Type I	Seizure, Spasticity, Optic atrophy, Myoclonus	OMIM:609241
Retinitis Pigmentosa 29	Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:612165
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Involu...	ORPHA:48818
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Chorea, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia	OMIM:301080
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Ataxia, Depression, Limb fasciculations, Spastic paraparesis, Oli...	OMIM:615157
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Skin rash, Splenomegaly, Jaund...	OMIM:603553
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br...	OMIM:606159
Canavan Disease	Epileptic spasm, Blindness, Bilateral tonic-clonic seizure, Optic atrophy, Elevated urinary N-ace...	OMIM:271900
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My...	OMIM:616421
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Seizure, ...	OMIM:617854
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Blindness, Megaloblastic anemia, Cerebral atrophy, Methylmalonic aciduria, Sei...	OMIM:236270
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degen...	OMIM:601104
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Generalized-onset seizure, Slurred speech, Dysmetria, Limb ataxia, Ankle clon...	ORPHA:284289
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular dystrophy, Blindness, Reduced visual acuity	OMIM:601553
Sorsby Fundus Dystrophy	Macular dystrophy, Blindness, Chorioretinal atrophy	OMIM:136900
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Cerebellar calcifications, Chorea, Hand tremor, Depression, Athetosis	OMIM:615483
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Amblyopia, Tremor, Abnormal pyramidal sign, Hypermetropia, Eyelid myoclon...	OMIM:618060
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Ga...	ORPHA:500180
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Depression, Bradyki...	OMIM:221820
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, ...	ORPHA:101112
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Severe X-Linked Intellectual Disability, Gustavson Type	Blindness, Recurrent upper respiratory tract infections, Optic atrophy, Seizure, Lateral ventricl...	ORPHA:3078
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Myopia, Ataxia, Tremor, Myoclonus, Spasticity	OMIM:616494
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Facial diplegia, Cerebral atrophy, Paralysis	OMIM:616286
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor ...	OMIM:614487
Hereditary Geniospasm	Chin myoclonus, Intention tremor	ORPHA:53372
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Seizure, Spasticity, Agenes...	OMIM:618238
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Neurodegeneration, Gait disturbance,...	ORPHA:79244
Krabbe Disease	Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic...	OMIM:245200
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu...	OMIM:617781
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Blindness, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyrami...	OMIM:272750
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula...	OMIM:136550
Mitochondrial Dna Depletion Syndrome 17	Epilepsia partialis continua, Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy,...	OMIM:618567
Retinitis Pigmentosa Inversa With Deafness	Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment...	ORPHA:97341
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,...	OMIM:605670
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinsk...	OMIM:614298
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Thrombocytopenia, Tetraplegia, Lymphadenopathy, Sei...	OMIM:267700
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Myopia, Hypoplasia of penis, Blindness, Recurrent urinary tract infections, Abnormal hemoglobin, ...	ORPHA:847
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Chorea, Seizure, Athetosis, Focal impaired awareness seiz...	ORPHA:382
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Rigidity, Head titubation, Babin...	OMIM:608804
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap...	OMIM:250100
Pyruvate Dehydrogenase E1-Alpha Deficiency	Blindness, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Partial agenesis of the corp...	ORPHA:79243
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General...	ORPHA:2382
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu...	OMIM:304020
Juvenile Amyotrophic Lateral Sclerosis	Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonism, Head titubati...	ORPHA:300605
Hartnup Disease	Abnormal urinary color, Ataxia, Skin rash, Abnormality of vision, Seizure, Photophobia, Infectiou...	ORPHA:2116
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Chorea, Cer...	OMIM:616672
Retinal Capillary Malformation	Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre...	ORPHA:71213
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Proteinuria, Recurrent myoglobinuria,...	OMIM:607426
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Cerebral visual impairment, Foca...	OMIM:615859
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Focal-onset seizure, Chorea, Convulsive status epilepticus	OMIM:618760
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin...	OMIM:617406
Peho Syndrome	Cerebellar atrophy, Optic atrophy, Seizure, Myoclonus, Neuronal loss in central nervous system	OMIM:260565
Pontocerebellar Hypoplasia, Type 2C	Chorea, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia	OMIM:612390
Severe Canavan Disease	Blindness, Bilateral tonic-clonic seizure, Babinski sign, Optic atrophy, Seizure, Decerebrate rig...	ORPHA:314911
Leukodystrophy, Hypomyelinating, 16	Optic disc pallor, Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathet...	OMIM:617964
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl...	OMIM:619092
Leber Congenital Amaurosis 2	Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:204100
Whipple Disease	Hepatomegaly, Myositis, Pericarditis, Ataxia, Splenomegaly, Mediastinal lymphadenopathy, Myocardi...	ORPHA:3452
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R...	OMIM:614181
Cimdag Syndrome	Cerebellar vermis hypoplasia, Retinal dystrophy, Ataxia, Chorea, Cerebral atrophy, Seizure, Ponto...	OMIM:619273
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Hepatomegaly, Blindness, Ataxia, Spastic paraplegia, Optic atrophy, Renal hyp...	ORPHA:254913
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia, Agenesi...	OMIM:312170
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3...	OMIM:616366
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seizure, Oculomotor...	OMIM:612438
Japanese Encephalitis	Dystonia, Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Neutrop...	ORPHA:79139
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua...	OMIM:604393
C1Q Deficiency 3	Discoid lupus rash, Recurrent bacterial meningitis	OMIM:620322
Episodic Kinesigenic Dyskinesia 2	Chorea, Involuntary movements, Paroxysmal dyskinesia	OMIM:611031
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Seizure, Cerebellar hypoplasia,...	OMIM:619422
Leber Congenital Amaurosis 12	Congenital blindness, Abnormality of macular pigmentation	OMIM:610612
Huntington Disease-Like 3	Caudate atrophy, Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Seizure, Abnormality of ...	OMIM:604802
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Bradykinesia, Hypertoni...	ORPHA:13
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Seizure, Hypertonia, Myoclonus, Anemia	OMIM:610090
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Aminoaciduria, Myoclonus, Truncal ataxia, ...	OMIM:250620
Legionnaires Disease	Renal insufficiency, Pericarditis, Proteinuria, Ataxia, Splenomegaly, Jaundice, Recurrent pharyng...	ORPHA:549
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu...	OMIM:607483
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Reduced ...	OMIM:611302
Complement Component 8 Deficiency, Type I	Meningitis	OMIM:613790
Huntington Disease-Like 3	Caudate atrophy, Extrapyramidal muscular rigidity, Broad-based gait, Chorea, Abnormal pyramidal s...	ORPHA:157946
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetr...	ORPHA:313772
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness, Spastic paraplegia	OMIM:302700
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Narcolepsy Type 1	Transient global amnesia, Obesity	ORPHA:2073
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Seizur...	OMIM:618356
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia	OMIM:619065
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Benign Familial Neonatal Epilepsy	Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure...	ORPHA:1949
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Thrombocytopenia, Copper accumulation in liver, Cer...	OMIM:614946
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Partial agenesis of the corpus callosum, Cerebral atrophy, Brain atrophy, Agenesis of ...	ORPHA:85179
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co...	OMIM:607921
3-Methylglutaconic Aciduria, Type Ix	Epileptic spasm, Clonus, Optic atrophy, Cerebral atrophy, Choreoathetosis, Seizure, Hypertonia, S...	OMIM:617698
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph...	OMIM:609913
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Retinopathy Of Prematurity	Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula...	ORPHA:90050
Pontocerebellar Hypoplasia, Type 7	Ataxia, Hypoplasia of the pons, Spastic paraplegia, Optic atrophy, Cerebral atrophy, Opisthotonus...	OMIM:614969
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec...	OMIM:615122
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Ataxia, P...	OMIM:234200
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Blindness, Megaloblastic anemia, Poor coordination, Cerebral atrophy, Seizure, Homocystinuria	OMIM:250940
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Chorea, Seizure, Athetosis, Focal sensory seizure	ORPHA:98809
Pelizaeus-Merzbacher Disease	Broad-based gait, Ataxia, Reduction of oligodendroglia, Tremor, Head titubation, Inability to wal...	OMIM:312080
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Elevated hepatic transaminase, Renal insufficiency, Abnormal pyramidal sign, ...	ORPHA:445038
Parkinsonism-Dystonia 1, Infantile-Onset	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,...	OMIM:613135
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret...	ORPHA:414
Hyperekplexia 4	Seizure, Hypertonia, Myoclonus, Cerebral atrophy	OMIM:618011
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:617123
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:601718
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,...	ORPHA:215
Achromatopsia	Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m...	ORPHA:49382
Thyrocerebrorenal Syndrome	Renal insufficiency, Slurred speech, Seizure, Myoclonus, Nonprogressive cerebellar ataxia, Nephri...	ORPHA:3327
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Optic atrophy, Reduced visual acuity, Gait ataxia, Hepatosplenomegaly, Pro...	ORPHA:466794
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Sialidosis Type 1	Ataxia, Tremor, Decreased nerve conduction velocity, Splenomegaly, Slurred speech, Seizure, Gait ...	ORPHA:812
Retinitis Pigmentosa 35	Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:610282
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Nasu-Hakola Disease	Chorea, Acute leukemia, Seizure, Irritability, Oculomotor apraxia, Spasticity, Cerebral cortical ...	ORPHA:2770
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ...	OMIM:618088
Macular Dystrophy, Vitelliform, 3	Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho...	OMIM:608161
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:610359
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensor...	OMIM:604484
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi...	OMIM:180100
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Primary Angiitis Of The Central Nervous System	Abnormal visual field test, Ataxia, Parkinsonism, Paralysis, Paraparesis, Diplopia, Reduced visua...	ORPHA:140989
Butyrylcholinesterase Deficiency	Chronic infection, Abnormality of the liver, Paralysis	ORPHA:132
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Acute Disseminated Encephalomyelitis	Viral hepatitis, Ataxia, Involuntary movements, Severe parainfluenza infection, Disseminated vira...	ORPHA:83597
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Optic atrophy, Seizure, Status epilepticus, Neurodegeneration, Gliosis, Spast...	OMIM:616239
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Depression...	ORPHA:309271
Childhood-Onset Benign Chorea With Striatal Involvement	Chorea, Parkinsonism with favorable response to dopaminergic medication	ORPHA:494541
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Ataxia, Chorea, Babinski sign, Axonal degeneration, Ce...	OMIM:604168
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Retinal dystrophy, ...	ORPHA:464282
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Paralysis	OMIM:605285
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:611040
Striatal Degeneration, Autosomal Dominant 2	Chorea, Parkinsonism	OMIM:616922
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Gliosis, Myoclonus, Gait distur...	OMIM:168601
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomega...	ORPHA:309155
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, H...	ORPHA:289266
Usher Syndrome Type 1	Ataxia, Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, High hypermet...	ORPHA:231169
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Cerebellar vermis hypoplasia, Clonus, Tonic seizure, Chorea, Babinski sign, C...	OMIM:612389
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri...	OMIM:619007
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Hy...	OMIM:607596
Retinitis Pigmentosa 2	Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma...	OMIM:312600
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Hemiparesis, Seizure, Chorioretinal coloboma, Infectious enc...	ORPHA:2481
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Choreoathetosis, Limb dystonia, Retinal degeneration, Intention tremor, P...	ORPHA:157850
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Retinal dystrophy, Nyctalopia, Reduced visual acuity, Spasticity, Micropenis	OMIM:610156
Retinitis Pigmentosa 70	Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma...	OMIM:615922
Cone-Rod Dystrophy 12	Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui...	OMIM:612657
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Cerebral atrophy...	OMIM:618877
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Ataxia, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Myoclon...	OMIM:616732
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu...	OMIM:615725
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Emotional lability, Obesity	OMIM:309585
Agammaglobulinemia, X-Linked	Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Infectious encephalit...	OMIM:300755
Alpha-N-Acetylgalactosaminidase Deficiency	Blindness, Clonus, Recurrent pneumonia, Tetraplegia, Oligosacchariduria, Seizure, Spasticity, Cer...	ORPHA:3137
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Spinocerebellar Ataxia 47	Ataxia, Chorea, Dysmetria, Seizure, Spasticity, Cerebellar vermis atrophy	OMIM:617931
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Sei...	OMIM:300894
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Cerebral visual impairment, Generalized non-motor (absence) seizure, Occipital ...	ORPHA:411986
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity, Cognitive impairment	OMIM:619058
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Infectious encephalit...	ORPHA:2552
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Ataxia, Urinary incontinence, Seizure, Myoclonus, Dystonia, Spasticity	OMIM:620094
Behçet Disease	Myositis, Abnormal pyramidal sign, Photophobia, Meningitis, Infectious encephalitis, Ataxia, Acne...	ORPHA:117
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Inability to walk, Seizure, Difficulty walking, Astrocytosis	OMIM:611087
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxi...	OMIM:618321
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Juvenile Sialidosis Type 2	Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Loss of ambulation, ...	ORPHA:93399
Isolated Succinate-Coq Reductase Deficiency	Blindness, Generalized myoclonic seizure, Ataxia, Spastic tetraparesis, Babinski sign, Reduced vi...	ORPHA:3208
Meningococcal Meningitis	Papilledema, Renal insufficiency, Skin rash, Photophobia, Seizure, Infectious encephalitis	ORPHA:33475
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho...	OMIM:613660
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Retinitis Pigmentosa 78	Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac...	OMIM:617433
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice...	ORPHA:36234
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Geniospasm 1	Chin myoclonus	OMIM:190100
Myoclonus, Familial, 2	Limb myoclonus	OMIM:618364
Retinitis Pigmentosa 54	Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i...	OMIM:613428
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a...	OMIM:615147
Pontocerebellar Hypoplasia Type 4	Seizure, Hypertonia, Myoclonus	ORPHA:166063
Cataract 11, Multiple Types	Chorea, Hypertonia, Blindness	OMIM:610623
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Impaired distal proprioception, Retinal pigment epithelial mottling, Hy...	OMIM:607459
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu...	OMIM:608030
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Retinitis Pigmentosa 7	Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a...	OMIM:608133
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Choroideremia	Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua...	ORPHA:180
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Blindness, Generalized dystonia, Spasticity, Opisthotonus, Pigmentary retinopa...	ORPHA:216866
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:617871
Temporal Arteritis	Blindness, Retinal arteritis	OMIM:187360
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Rod-cone dystrophy, Limb hypertonia	OMIM:618247
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Splenomegaly, Dense calcifications in the ...	ORPHA:90324
Retinitis Pigmentosa 47	Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	OMIM:613758
Glutaryl-Coa Dehydrogenase Deficiency	Pallidal degeneration, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Chore...	ORPHA:25
D-Glyceric Aciduria	Cerebral visual impairment, Chorea, Hyperglycinuria, Seizure, Myoclonus, Brain atrophy, Spasticity	ORPHA:941
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Incoordination, Ataxia, Clonus, Optic atrophy, Tetraplegia, Cerebral atrophy,...	OMIM:616034
Mitochondrial Complex I Deficiency, Nuclear Type 31	Seizure, Recurrent respiratory infections, Myoclonus, Dysmetria	OMIM:618251
Infantile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, ...	ORPHA:206436
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Pneumocystis carinii pneumonia, Absence...	OMIM:308230
Newfoundland Rod-Cone Dystrophy	Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect	OMIM:607476
Retinitis Pigmentosa 20	Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of...	OMIM:613794
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus	OMIM:254800
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Infantile spasms, Chorea, Choreoathetosis, Seizure, Athetosis	OMIM:309541
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence...	ORPHA:79137
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Obesity	OMIM:615990
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:617460
Juvenile Myoclonic Epilepsy	Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s...	ORPHA:307
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Facia...	OMIM:617281
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Retinitis Pigmentosa 38	Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a...	OMIM:613862
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N...	OMIM:300029
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia	ORPHA:324588
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Micronodular cirrhosis, He...	OMIM:618955
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Spastic tetraplegia, Opisthotonus, Seizur...	OMIM:220120
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity, Cerebral cortica...	OMIM:618201
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Ataxia, Limb tremor, Decreased liver function, Brain ...	OMIM:614877
Acetyl-Coa Acetyltransferase-2 Deficiency	Chorea	OMIM:614055
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Opto-chiasmatic atrophy,...	OMIM:620089
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depre...	OMIM:137440
Chorea, Remitting, With Nystagmus And Cataract	Chorea	OMIM:601372
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegen...	OMIM:203700
Atypical Rett Syndrome	Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Inability to walk, Limb...	ORPHA:3095
Infantile Dystonia-Parkinsonism	Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Irritability, Hypert...	ORPHA:238455
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Cysticercosis	Retinal detachment, Abnormal optic chiasm morphology, Generalized-onset seizure, Ataxia, Focal-on...	ORPHA:1560
Leigh Syndrome	Chorea, Choreoathetosis, Abnormal optic nerve morphology, Gliosis, Neutropenia, Agenesis of corpu...	ORPHA:506
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph...	OMIM:616079
Lyme Disease	Uveitis, Photophobia, Arthritis, Meningitis, Infectious encephalitis, Amaurosis fugax	ORPHA:91546
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t...	ORPHA:83629
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, Myocarditis, Hepatitis...	ORPHA:292
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten...	OMIM:614180
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto...	ORPHA:363722
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Axonal degenerati...	OMIM:614436
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Abnormal dentate nucleus morphology, Palat...	OMIM:203450
Neuroferritinopathy	Resting tremor, Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blep...	ORPHA:157846
Retinitis Pigmentosa 71	Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c...	OMIM:616394
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Blindness, Ataxia, Tremor, Visual loss, Slurred speech, Spastic diplegia, ...	ORPHA:206443
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Leber Congenital Amaurosis 14	Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ...	OMIM:613341
Alexander Disease	Ataxia, Clonus, Tremor, Chorea, Diplopia, Abnormal pyramidal sign, Tetraplegia, Seizure, Spastici...	ORPHA:58
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Tremor, Recurrent pneumonia, Neutropenia, Cerebral atrophy, Opisthoto...	OMIM:616271
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi...	OMIM:612126
Retinitis Pigmentosa 18	Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ...	OMIM:601414
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Blindness, Hydroureter, Megaloblastic anemia, Optic atrophy, Seizure, Neutr...	OMIM:598500
Adrenoleukodystrophy	Blindness, Incoordination, Urinary incontinence, Paraparesis, Visual loss, Spastic paraplegia, Sl...	OMIM:300100
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua...	ORPHA:139431
Pandas	Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritability, Emotional lability,...	ORPHA:66624
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Generalized myo...	OMIM:231000
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Photophobia, Abnormal retinal morphology o...	ORPHA:251004
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Unsteady gait, Seizure, Hypertonia, Status epilepticu...	ORPHA:79096
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Ataxia, Optic atrophy, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity	OMIM:614299
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Microcytic anemia, Chorea,...	OMIM:618451
Incontinentia Pigmenti	Retinal detachment, Abnormal chorioretinal morphology, Eosinophilia, Skin rash, Retinal vascular ...	ORPHA:464
Microcephaly-Capillary Malformation Syndrome	Infantile spasms, Spastic tetraparesis, Optic atrophy, Cerebral atrophy, Seizure, Myoclonus	OMIM:614261
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con...	OMIM:613194
Poliomyelitis	Paralysis, Paraparesis, Meningitis, Hyperkinetic movements, Fasciculations, Myelitis, Infectious ...	ORPHA:2912
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab...	OMIM:613954
Sarcosinemia	Ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Tetraparesis, Hypersarcosinuria, Congenita...	ORPHA:3129
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho...	OMIM:610356
Nocardiosis	Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Scotoma, Pneumonia, Keratitis, Lymphad...	ORPHA:31204
Developmental And Epileptic Encephalopathy 78	Cerebral palsy, Inability to walk, Chorea, Seizure, Status epilepticus, Spasticity	OMIM:618557
Phosphoserine Aminotransferase Deficiency	Seizure, Hypertonia, Myoclonus	OMIM:610992
Lafora Disease	Ataxia, Focal sensory seizure with visual features, Depression, Seizure, Gait disturbance, Myoclo...	ORPHA:501
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath...	OMIM:615780
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Cerebral atrophy, Seizure, Hyperkinetic movements, Difficulty walking, Truncal ataxia	ORPHA:369847
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:618144
American Trypanosomiasis	Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis	ORPHA:3386
Horner Syndrome, Congenital	Congenital Horner syndrome, Paralysis	OMIM:143000
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Blindness, Ataxia, Urinary incontinence, Ring scotoma, R...	OMIM:609033
Brucellosis	Liver abscess, Chorea, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious ence...	ORPHA:1304
Chorea, Benign Familial	Chorea	OMIM:215450
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Ataxia, Myoclonus	OMIM:560000
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Infectious encephalitis, ...	ORPHA:73263
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio...	OMIM:600852
Spinocerebellar Ataxia Type 36	Ataxia, Diplopia, Babinski sign, Blurred vision, Truncal ataxia, Dysmetria, Hand tremor, Limb ata...	ORPHA:276198
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Depression, Neurodegeneration, Em...	ORPHA:803
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor	ORPHA:363717
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:616502
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetria, Seizure, At...	OMIM:617302
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hypoplasia of penis, Blindness, Abnormal retinal vascular mo...	ORPHA:791
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Chorea, Gliosis, Athetosis, Myoclonus, Oculomotor apraxia, Atonic seizure, Cone/cone-rod dystroph...	ORPHA:404454
Canavan Disease	Abnormality of retinal pigmentation, Blindness, Optic atrophy, Seizure, Hypertonia, Visual impair...	ORPHA:141
Thyrocerebroretinal Syndrome	Ataxia, Slurred speech, Seizure, Myoclonus, Nephritis, Thrombocytopenia	OMIM:274240
Basal Ganglia Calcification, Idiopathic, 6	Involuntary movements, Parkinsonism, Depression, Choreoathetosis, Seizure	OMIM:616413
Cone Rod Dystrophy	Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect	ORPHA:1872
Combined Oxidative Phosphorylation Deficiency 57	Seizure, Bull's eye maculopathy, Myoclonus, Cerebral atrophy	OMIM:620167
Macular Dystrophy, Retinal, 4	Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a...	OMIM:619977
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Seizure, Spasticity	OMIM:617664
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni...	ORPHA:352582
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent ski...	OMIM:620210
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Sim...	ORPHA:2524
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia	ORPHA:640
Alzheimer Disease 3	Dystonia, Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor funct...	OMIM:607822
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy...	OMIM:180104
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Chorea, Ataxia	OMIM:618683
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea, Involuntary movements	OMIM:616939
Porphyria, Acute Hepatic	Hemolytic anemia, Respiratory paralysis, Paralysis, Elevated urinary delta-aminolevulinic acid	OMIM:612740
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Elevated urinary 4-hydroxybutyric acid, Bilateral tonic-clonic seizure, Ataxi...	OMIM:271980
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebellar peduncle morphology, A...	ORPHA:909
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,...	OMIM:619913
Leber Congenital Amaurosis 16	Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im...	OMIM:614186
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Hemiplegia/hemiparesis, Nyctalopia, Functional abnormality of t...	ORPHA:2571
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Optic atrophy, Abnormal pyramidal sig...	OMIM:616680
Optic Pathway Glioma	Papilledema, Blindness, Visual loss, Optic atrophy, Reduced visual acuity, Visual field defect, S...	ORPHA:2086
Optic Atrophy 1	Ataxia, Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Centroc...	OMIM:165500
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myo...	ORPHA:420492
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Blindness, Bilateral tonic-clonic seizure, Urinary in...	OMIM:268800
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Chediak-Higashi Syndrome	Tremor, Photophobia, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Impaired ...	OMIM:214500
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, ...	OMIM:619725
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu...	OMIM:600977
Developmental And Epileptic Encephalopathy 64	Inability to walk, Chorea, Hemiparesis, Seizure, Status epilepticus, Cerebellar hypoplasia, Cereb...	OMIM:618004
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Amblyopia, Hand tremor, Myoclonus, Head tremor, Dystonia	OMIM:619724
Usher Syndrome, Type Iiia	Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect	OMIM:276902
Posttransplant Acute Limbic Encephalitis	Ataxia, Depression, Seizure, Abnormal autonomic nervous system physiology, Myoclonus	ORPHA:163921
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Axonal degeneration, Impaire...	ORPHA:88628
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Myopia, Hepatomegaly, Abnormal chorioretinal morphology, Vis...	ORPHA:5
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Cerebellar atrophy, Tremor, Chorea, Impaired distal vi...	OMIM:606002
Retinitis Pigmentosa 63	Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision	OMIM:614494
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Seizure, Yellow/wh...	ORPHA:93400
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased...	ORPHA:206594
Ataxia-Oculomotor Apraxia Type 4	Short attention span, Somatic sensory dysfunction, Ataxia, Obesity, Cognitive impairment	ORPHA:459033
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Rigidity, Focal-onset seizure, Optic atrophy, Spastic tetraplegia, Chiari type I malforma...	OMIM:618476
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Micropenis, Visual ...	ORPHA:75858
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Spastic tetraparesis, Seizure, Lateral ventricle dilatation, Hypertonia, Myoclonus	ORPHA:284417
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Lower limb spasticity, Optic disc pallor, Generalized-onset seizure, Optic ne...	OMIM:618249
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Blindness, Sinusitis, Ataxia, Pneumonia, Pustule, Visual loss, Diplopia, ...	ORPHA:68
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Recurrent urinary tract infections, Ataxia, Generalized clonic seizure, Tr...	OMIM:619229
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Absence seizure with eyelid myoclonia, Ataxia, Megaloblastic anemia, ...	OMIM:613839
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Difficulty walking, Distal sensory impairment, Paralysis	OMIM:613710
Retinitis Pigmentosa 6	Recurrent respiratory infections, Constriction of peripheral visual field, Chorioretinal degenera...	OMIM:312612
Reynolds Syndrome	Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Infectious e...	ORPHA:779
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Substantia ...	ORPHA:276244
Episodic Ataxia Type 6	Cerebellar atrophy, Ataxia, Diplopia, Slurred speech, Reduced visual acuity, Photophobia, Seizure...	ORPHA:209967
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Nyctalopia, Abnormal...	ORPHA:96
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Nyctalopia, Jaundice, Biliary tract ab...	ORPHA:79301
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Hepatomegaly, Ketonuria, Ataxia, Lacticaciduria, Seizure, Myoclonus, Aspiratio...	OMIM:619167
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks, Diffuse cerebral atrophy	ORPHA:2898
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Exudative Vitreoretinopathy 1	Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi...	OMIM:133780
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac...	OMIM:618220
Infantile Refsum Disease	Hepatomegaly, Constriction of peripheral visual field, Ataxia, Nyctalopia, Optic atrophy, Seizure...	ORPHA:772
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618826
Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ...	OMIM:105400
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations	OMIM:613435
Achromatopsia 7	Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a...	OMIM:616517
Retinitis Pigmentosa 92	Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,...	OMIM:619614
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A...	OMIM:300310
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Blindness, Optic atrophy	ORPHA:2787
Angelman Syndrome	Optic disc pallor, Broad-based gait, Ataxia, Infantile spasms, Tremor, Inability to walk, Optic a...	ORPHA:72
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:606068
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu...	OMIM:267760
Retinitis Pigmentosa 40	Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b...	OMIM:613801
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Seizure, Blindness, Infantile spasms, Colpocephaly	OMIM:618731
Acute Peripheral Arterial Occlusion	Leukocytosis, Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Choreoathetosis, Frequent falls, Ce...	OMIM:619054
Retinitis Pigmentosa 85	Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity	OMIM:618345
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Epileptic spasm, Myoclonus, Cerebral atrophy	OMIM:619060
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Ataxia, Inability to walk, Chorea, Seizure, Spasticity	ORPHA:70472
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:613582
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ...	OMIM:613500
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Cavitary Optic Disc Anomalies	Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect	OMIM:611543
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Paraparesis, Thrombocytopenia, Optic atrophy, Choreoathetosis, Seizure...	ORPHA:27
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f...	OMIM:300476
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Hepatomegaly, Ataxia, Postural tremor, Cerebral visual impairment, Seborrheic...	OMIM:301072
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho...	OMIM:613464
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Blindness, Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal si...	ORPHA:35069
Adiposis Dolorosa	Obesity, Depression	OMIM:103200
Caribbean Parkinsonism	Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ...	ORPHA:97355
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Blindness, Bilateral tonic-clonic seizure, Constriction of peripheral visual fie...	OMIM:300578
Exudative Vitreoretinopathy 4	Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm...	OMIM:601813
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m...	ORPHA:436274
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Inability to walk, Ch...	OMIM:300260
Sneddon Syndrome	Tremor, Seizure, Chorea, Hemiparesis	ORPHA:820
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N...	OMIM:616108
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Seizure,...	OMIM:614922
Osteopetrosis, Autosomal Recessive 2	Blindness, Extramedullary hematopoiesis, Pancytopenia, Osteomyelitis, Mandibular osteomyelitis, T...	OMIM:259710
Cinca Syndrome	Hepatomegaly, Blindness, Abnormality of neutrophils, Retrobulbar optic neuritis, Splenomegaly, Le...	ORPHA:1451
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evo...	OMIM:607876
Parkinsonian-Pyramidal Syndrome	Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki...	ORPHA:171695
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept...	OMIM:613970
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Hemiplegia	OMIM:614820
Acute Zonal Occult Outer Retinopathy	Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con...	ORPHA:284454
Developmental And Epileptic Encephalopathy 72	Hyperkinetic movements, Infantile spasms, Cerebral atrophy, Cerebral visual impairment	OMIM:618374
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Cerebellar atrophy, Proteinuria, Stage 5 chronic kidney disease, Cer...	OMIM:619609
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt...	OMIM:600059
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi...	OMIM:600105
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Choreoathetosis, Irritability, Spasticity, Hypoplasia of the pons	OMIM:614249
Chromosome Xq21 Deletion Syndrome	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at...	OMIM:303110
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Rigidity, Splenomegaly, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor coordination,...	ORPHA:309854
Usher Syndrome Type 3	Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231183
Leukoencephalopathy With Vanishing White Matter 1	Seizure, Spasticity, Optic atrophy, Blindness	OMIM:603896
Bardet-Biedl Syndrome 4	Nyctalopia, Rod-cone dystrophy, Renal cyst, Retinal degeneration	OMIM:615982
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph...	OMIM:270200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Nyctalopia, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Ne...	OMIM:615630
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent herpes, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalit...	ORPHA:391487
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Pelizaeus-Merzbacher Disease	Ataxia, Optic atrophy, Choreoathetosis, Seizure, Gait disturbance, Spasticity, Cerebral cortical ...	ORPHA:702
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Abnormality of vision, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor ...	ORPHA:1020
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Infantile spasms,...	ORPHA:333
Adenylosuccinase Deficiency	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Opisthotonus, Gait ataxia, Seizure, Myoc...	OMIM:103050
Retinitis Pigmentosa	Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ...	OMIM:268000
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Nyctalopia, Renal fibro...	OMIM:618161
Usher Syndrome	Abnormality of retinal pigmentation, Myopia, Blindness, Ataxia, Nyctalopia, Vestibular areflexia,...	ORPHA:886
Bothnia Retinal Dystrophy	Macular degeneration, Nyctalopia, Retinal dystrophy	OMIM:607475
Fleck Retina, Familial Benign	Nyctalopia, Retinal flecks, Visual impairment	OMIM:228980
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Blindness, Ataxia, Central scotoma, Optic atrophy, ...	ORPHA:543470
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Abnormal cerebellar cortex morpholo...	ORPHA:70595
Melas	Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Opt...	ORPHA:550
Joubert Syndrome 6	Blindness, Ataxia, Stage 5 chronic kidney disease, Hepatic fibrosis, Bile duct proliferation, Nep...	OMIM:610688
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Dystonia, Athetoid cerebr...	OMIM:618218
Variegate Porphyria	Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Paralysis, Porphyr...	OMIM:176200
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Renal insufficiency, Blindness, Retinal dystrophy, Ataxia, He...	ORPHA:713
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Leukopenia, T lymphocytopenia, Neutropenia, C...	ORPHA:443811
Fundus Albipunctatus	Nyctalopia, Retinal flecks, Fundus albipunctatus	OMIM:136880
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Generalized-onset seizure, Loss of ability to walk in early childhood, Infantile spasms, Microcyt...	OMIM:612073
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Ataxia, Visual loss, Babinski sign, Reduc...	ORPHA:94147
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Neurogenic bladder, Paroxysmal dystonia, Detrusor sphincter dyssynergia, U...	ORPHA:466722
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status...	ORPHA:225147
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Blindness, Pancytopenia, Osteomyelitis, Splenomegaly, Thrombocytopenia, Optic atrop...	OMIM:259700
Macular Dystrophy With Central Cone Involvement	Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi...	OMIM:616170
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Myopia, Blindness, Optic nerve hypoplasia, Clonus, Optic atrophy, Abnormal py...	ORPHA:370959
Niemann-Pick Disease Type C	Generalized-onset seizure, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progr...	ORPHA:646
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica...	OMIM:113610
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Poor coordination, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Gait ata...	OMIM:616878
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Blindness, Ataxia, Spastic tetraparesis, Hoffmann sign, Reduced visual acu...	ORPHA:139396
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy	OMIM:179840
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Splenomegaly, Optic atrophy, Choreoathetosis, Seizure, Neutropenia, Anemia	ORPHA:79312
Exudative Vitreoretinopathy 5	Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re...	OMIM:613310
Immunoglobulin A Vasculitis	Episcleritis, Renal insufficiency, Proteinuria, Skin rash, Pustule, Hemiplegia/hemiparesis, Orchi...	ORPHA:761
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276241
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Red-green dyschromatopsia, Central scotoma, Optic atrophy, Reduced visual acuity, Dyschro...	OMIM:125250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Cerebellar atrophy, Waddling gait, Ataxia, Tremor, Inability to walk, Chorea, Cer...	OMIM:615356
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Optic atrophy, Gait ataxia, Sei...	ORPHA:255210
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Facial palsy, Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, As...	ORPHA:258
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,...	OMIM:109150
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hypopigmentation of hair, Ataxia, Obesity, Hypopigmentation of the skin, Ir...	ORPHA:411515
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Hypoesthesia, Vocal cord paralysis, Hand paresthesia, ...	OMIM:162500
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Recurrent pneumonia, Neurodegeneration, Gliosis, Br...	OMIM:214150
Mitochondrial Dna Depletion Syndrome 19	Hypospadias, Infantile spasms, Microcytic anemia, Focal-onset seizure, Myoclonus, Tetraparesis, S...	OMIM:618972
Severe Early-Childhood-Onset Retinal Dystrophy	Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ...	ORPHA:364055
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w...	OMIM:617988
Cog8-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Seizure, Myoclonus, Atrophy/Degenerati...	ORPHA:95428
Retinal Dystrophy And Obesity	Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual...	OMIM:616188
Intellectual Developmental Disorder, Autosomal Dominant 42	Cerebral visual impairment, Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic sei...	OMIM:616973
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status...	OMIM:612949
Immunoneurologic Disorder, X-Linked	Nyctalopia, Functional abnormality of the bladder, Spastic paraplegia	OMIM:300076
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im...	OMIM:258870
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Attention deficit hyperactivity disorder	OMIM:620065
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina...	OMIM:193235
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Depression, Seizure, Hyperk...	OMIM:300957
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Vocal cord paralysis, Distal sensory impairment	OMIM:616287
Gm1 Gangliosidosis Type 1	Diffuse cerebral atrophy, Exaggerated startle response, Blindness, Hepatosplenomegaly, Seizure, U...	ORPHA:79255
Vitreoretinochoroidopathy	Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig...	OMIM:193220
Retinal Cone Dystrophy 3A	Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia	OMIM:610024
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Anisocytosis, ...	OMIM:618278
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology, Nyctalopia, Hy...	ORPHA:1390
Neurodevelopmental Disorder With Spasticity And Poor Growth	Recurrent respiratory infections, Generalized dystonia, Ataxia, Clonus, Infantile spasms, Amblyop...	OMIM:618076
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Loss of ambulation, Decreased amplitude of sensory action po...	ORPHA:2388
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo...	ORPHA:209943
Usher Syndrome, Type Iid	Nyctalopia, Rod-cone dystrophy	OMIM:611383
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Renal insufficiency, Generalized-onset seizure, Proteinuria, Postural tremor,...	OMIM:254900
Birk-Aharoni Syndrome	Macrocytic anemia, Inability to walk, Chorea, Spastic tetraplegia	OMIM:620071
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi...	ORPHA:52427
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Seizure, Papilledema, Anemia	OMIM:127000
Chromosome 18Q Deletion Syndrome	Broad-based gait, Tremor, Chorea, Poor coordination, Optic atrophy, Seizure, Cerebellar hypoplasi...	OMIM:601808
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Congenital blindness, Hepatic steatosis	ORPHA:436182
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction...	OMIM:615973
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Tremor, Depression, Seizure, Hyperkinetic movements, Upper limb s...	ORPHA:457240
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Generalized dystonia, Cerebral atrophy, Seizure, Abnormal urinary odor, Myocl...	ORPHA:412217
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, Conjunct...	OMIM:601457
Night Blindness, Congenital Stationary, Type 1F	Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ...	OMIM:615058
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ...	OMIM:619707
Intellectual Developmental Disorder, Autosomal Dominant 45	Cerebral palsy, Bilateral tonic-clonic seizure, Skin rash, Chorea, Generalized non-motor (absence...	OMIM:617600
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Visu...	ORPHA:43
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade...	OMIM:240500
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v...	OMIM:605549
Refsum Disease	Abnormality of retinal pigmentation, Renal insufficiency, Ataxia, Hemiplegia/hemiparesis, Nyctalo...	ORPHA:773
Joubert Syndrome 1	Optic disc pallor, Hemifacial spasm, Cerebellar vermis hypoplasia, Ataxia, Retinal dystrophy, Age...	OMIM:213300
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Seizure, Blindness, Anemia	OMIM:614514
Mohr-Tranebjaerg Syndrome	Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Tremor, Reduced visu...	OMIM:304700
Fatal Familial Insomnia	Neuronal loss in central nervous system, Abnormal autonomic nervous system physiology, Ataxia, My...	OMIM:600072
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Ata...	OMIM:615816
Subependymal Nodular Heterotopia	Focal-onset seizure, Partial agenesis of the corpus callosum, Seizure, Focal aware seizure, Limb ...	ORPHA:101030
Gerstmann-Straussler-Scheinker Syndrome	Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Abnormality of extrapyramidal motor fun...	ORPHA:356
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Developmental And Epileptic Encephalopathy 29	Chorea, Cerebral atrophy, Myoclonic seizure, Blepharospasm, Spasticity	OMIM:616339
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate...	OMIM:618173
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis	OMIM:104290
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Cerebellar atrophy, Impaired pain sensation, Inability...	ORPHA:99949
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Broad-based gait, Inability to walk, Axonal degenerati...	OMIM:615490
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Anemia, Seizure, 3-Me...	OMIM:246450
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Spastic...	ORPHA:2715
Cryptococcosis	Blindness, Lymphoid leukemia, Osteomyelitis, Abnormal retinal morphology, Pneumonia, Mediastinal ...	ORPHA:1546
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Focal seizure with eyelid myoclonia, Myoclonus, Oculomotor apraxia,...	ORPHA:2752
Pontocerebellar Hypoplasia, Type 8	Involuntary movements, Chorea, Gait ataxia, Hypertonia, Cerebellar hypoplasia, Spasticity	OMIM:614961
Hereditary Hyperekplexia	Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Esophagitis, Spasticity	ORPHA:3197
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Tay-Sachs Disease	Exaggerated startle response, Blindness, Seizure, Hypertonia, Cherry red spot of the macula	OMIM:272800
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Recurrent...	ORPHA:314655
Complement Component 4B Deficiency	Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin...	OMIM:614379
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Nyctalopia	OMIM:618632
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:180105
Exudative Vitreoretinopathy 3	Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ...	OMIM:605750
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements	OMIM:620245
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Meningitis, Hypereosinophilia, Chronic tinea infection, Lymphadenopathy, C...	OMIM:212050
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:613983
X-Linked Creatine Transporter Deficiency	Ataxia, Aganglionic megacolon, Chorea, Seizure, Athetosis, Hypertonia	ORPHA:52503
Spastic Paraplegia 15, Autosomal Recessive	Lower limb spasticity, Ataxia, Urinary incontinence, Clonus, Babinski sign, Spastic paraplegia, R...	OMIM:270700
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Focal-onset seizure, Lac...	OMIM:605711
Ritscher-Schinzel Syndrome 4	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Chorea, Athetosis, Cerebellar hypopl...	OMIM:619435
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:617304
Asparagine Synthetase Deficiency	Caudate atrophy, Exaggerated startle response, Blindness, Optic nerve hypoplasia, Clonus, Cerebra...	OMIM:615574
Cinca Syndrome	Papilledema, Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly,...	OMIM:607115
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Focal impaired awareness hem...	OMIM:620149
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott...	OMIM:610478
Usher Syndrome Type 2	Myopia, Ataxia, Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, Cereb...	ORPHA:231178
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Ataxia, Involuntary movements, Inability to walk, Chorea, Cerebral atrophy, S...	OMIM:617804
Severe Combined Immunodeficiency, X-Linked	Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Agammaglobulinemia, De...	OMIM:300400
Night Blindness, Congenital Stationary, Type 1H	Hypermetropia, Photophobia, Nyctalopia, Mild myopia	OMIM:617024
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Moderately reduced visual acuity, Visual acuity light perception with project...	ORPHA:2788
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:615233
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai...	OMIM:601152
Progressive Multifocal Leukoencephalopathy	Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemiplegia/hemiparesis, Diplopia, D...	ORPHA:217260
Bardet-Biedl Syndrome 3	Nyctalopia, Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	OMIM:600151
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Skin rash, Renal angiomyolipoma, Nyctalopia, Splenomegaly, Lymph...	OMIM:260920
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Episodic ataxia, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, In...	ORPHA:1934
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:616469
Laurence-Moon Syndrome	Pigmentary retinopathy, Ataxia, Obesity	OMIM:245800
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia	OMIM:616744
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:612095
Mucopolysaccharidosis Type 3	Adenoiditis, Abnormal pyramidal sign, Hypertonia, Otitis media, Aspiration pneumonia, Chronic oti...	ORPHA:581
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
X-Linked Intellectual Disability Due To Gria3 Mutations	Bilateral tonic-clonic seizure, Babinski sign, Spasticity, Recurrent infections, Seizure, Status ...	ORPHA:364028
Retinoblastoma	Abnormality of retinal pigmentation, Glioma, Subretinal pigment epithelium hemorrhage, Retinal ca...	ORPHA:790
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Blindness, Optic atrophy, Gait ataxia, Spinocerebellar atrophy, Progressive cerebellar ataxia, Sp...	ORPHA:95433
Sulfite Oxidase Deficiency, Isolated	Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Choreoathetosis, Hypertonia, Cerebellar...	OMIM:272300
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Blindness, Optic atrophy, Cerebral atrophy, Hi...	OMIM:220500
Alternating Hemiplegia Of Childhood	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p...	ORPHA:2131
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ...	OMIM:619777
Valinemia	Valinuria, Hyperkinetic movements	OMIM:277100
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Impaired distal vibration sensation, Impaired vibration sensation in the lower limbs, Obe...	OMIM:604360
Hyperekplexia 1	Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures	OMIM:149400
Obesity And Hypopigmentation	Red hair, Overgrowth, Obesity	OMIM:620195
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch...	OMIM:601777
Catastrophic Antiphospholipid Syndrome	Chorea, Retinal arterial occlusion, Seizure, Coombs-positive hemolytic anemia, Microangiopathic h...	ORPHA:464343
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab...	ORPHA:229717
De Sanctis-Cacchione Syndrome	Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Scissor gait, Optic atrophy, Axonal degene...	OMIM:278800
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Seizure, Broad-based gait, Myoclonus	OMIM:616158
Methanol Poisoning	Blindness, Seizure, Abnormal optic nerve morphology, Visual impairment, Blurred vision	ORPHA:31825
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Renal insufficiency, Cerebral palsy, Proteinuria, Ataxia, Skin rash, ...	ORPHA:36412
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Anemia, Hypocalcemic seizures	ORPHA:93325
Alstrom Syndrome	Cone/cone-rod dystrophy, Hepatic steatosis, Renal insufficiency, Blindness, Constriction of perip...	OMIM:203800
Chikungunya	Maculopapular exanthema, Skin rash, Erythema nodosum, Cervical lymphadenopathy, Crusting erythema...	ORPHA:324625
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Blindness, Osteomyelitis, Mandibular osteomyelitis, Osteoarthritis...	ORPHA:53
Cerebral Cavernous Malformations 3	Seizure, Paralysis	OMIM:603285
Hyperekplexia 2	Myopia, Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Cohen Syndrome	Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,...	OMIM:216550
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac...	OMIM:611131
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Ataxia, Obesity, Cognitive impairment	OMIM:616267
Selective Igm Deficiency	Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:613581
Brain-Lung-Thyroid Syndrome	Recurrent respiratory infections, Incoordination, Hypospadias, Ataxia, Involuntary movements, Dys...	ORPHA:209905
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Seizure, Hyperkinetic movements	ORPHA:397933
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis...	OMIM:608643
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613617
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatic steatosis, Hepatomegaly, Constriction of peripheral visual field, Gener...	OMIM:619418
Leber Congenital Amaurosis 3	Visual loss, Nyctalopia, Constriction of peripheral visual field	OMIM:604232
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis	OMIM:614198
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia	ORPHA:369840
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Seizure, Irritability, Hyperkinetic movements, Limb hypertonia	OMIM:233910
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology...	ORPHA:3392
Familial Cervical Artery Dissection	Paresthesia, Facial palsy, Paralysis	ORPHA:36382
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebral atrophy, ...	OMIM:252160
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Spinocerebellar Ataxia Type 3	Diplopia, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxi...	ORPHA:98757
Lethal Ataxia With Deafness And Optic Atrophy	Blindness, Ataxia, Abnormal erythrocyte enzyme level, Severe infection, Recurrent upper respirato...	ORPHA:1187
Idiopathic Panuveitis	Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R...	ORPHA:280921
Hydranencephaly	Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Spastic diplegia, Opisthotonus, Abnorma...	ORPHA:2177
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hypertonia, Irrit...	OMIM:261640
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par...	ORPHA:53583
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Cerebral atrophy, Hemiparesis, Seizure, Subcortical cerebral at...	ORPHA:2396
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Vocal ...	ORPHA:99956
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Generalized-onset seizure, Paralysis, Focal-onset seizure, Leukocytosis, Depression, Status epile...	ORPHA:83601
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Seizure, Myoclonus, Cerebral atrophy	OMIM:614462
Retinoblastoma	Vitritis, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia	OMIM:180200
Developmental And Epileptic Encephalopathy 101	Seizure, Myoclonus, Opisthotonus	OMIM:619814
Joubert Syndrome With Oculorenal Defect	Renal insufficiency, Blindness, Retinal dystrophy, Ataxia, Seizure, Chorioretinal coloboma, Nephr...	ORPHA:2318
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chorioretinal dysplasia, Abnormality of vision, Hypertonia, Abnormal optic nerve morphology, Reti...	ORPHA:2526
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe...	OMIM:613756
Ataxia-Telangiectasia	Sinusitis, Ataxia, Tremor, Decreased proportion of CD4-positive helper T cells, Slurred speech, B...	OMIM:208900
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:602772
Immunodeficiency 46	Recurrent sinopulmonary infections, Decreased circulating antibody level, Conjunctivitis, Chronic...	OMIM:616740
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Blindness, Ataxia, Retinal telangiectasia, Tremor, Thrombocytopenia, Optic atrophy, Abnormal pyra...	OMIM:612199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia	OMIM:615181
Abetalipoproteinemia	Dysmetria, Gait ataxia, Hepatic fibrosis, Hepatic steatosis, Hypopigmentation of the fundus, Hepa...	ORPHA:14
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple...	OMIM:300055
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Incoordination, Patchy atrophy of the retinal pigment ep...	ORPHA:436245
Developmental And Epileptic Encephalopathy 84	Epileptic spasm, Chorea, Babinski sign, Opisthotonus, Seizure, Spasticity	OMIM:618792
Tick-Borne Encephalitis	Speech apraxia, Elevated hepatic transaminase, Generalized-onset seizure, Incoordination, Paralys...	ORPHA:297
Scedosporiosis	Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ...	ORPHA:449280
Leber Congenital Amaurosis 15	Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac...	OMIM:613843
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu...	OMIM:146500
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:600132
White-Sutton Syndrome	Cerebellar atrophy, Myopia, Blindness, Incoordination, Optic atrophy, Hypermetropia, Seizure, Sub...	ORPHA:468678
Allan-Herndon-Dudley Syndrome	Ataxia, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia, Choreoathetosis, Seizure, An...	ORPHA:59
Obesity Due To Sim1 Deficiency	Cognitive impairment, Memory impairment, Obesity, Attention deficit hyperactivity disorder	ORPHA:369873
Glioblastoma	Glioblastoma multiforme, Seizure, Emotional lability, Paralysis	ORPHA:360
Sturge-Weber Syndrome	Retinal detachment, Blindness, Abnormal retinal vascular morphology, Optic atrophy, Abnormality o...	ORPHA:3205
Spastic Paraplegia 86, Autosomal Recessive	Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis, Febrile seizure (w...	OMIM:619735
Serotonin Syndrome	Clonus, Tremor, Rigidity, Seizure, Irritability, Hypertonia, Myoclonus, Abnormality of the autono...	ORPHA:43116
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, Seizure, Myoclonus	OMIM:300673
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Abnormal autonomic nervous system physiology, Myoclonus	ORPHA:168593
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Spastic tetraparesis, Increased urinary sulfite level, Absent urinary u...	OMIM:252150
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M...	OMIM:610283
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Heparan sulfate excretion in urin...	OMIM:309900
Peroxisome Biogenesis Disorder 9B	Constriction of peripheral visual field, Ataxia, Nyctalopia, Reduced visual acuity, Rod-cone dyst...	OMIM:614879
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Babinski sign, Optic atrophy, Reduced visual acuity, Gait ataxia, Clumsines...	ORPHA:309256
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613810
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc...	ORPHA:440727
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Birk-Landau-Perez Syndrome	Optic atrophy, Limb ataxia, Choreoathetosis, Difficulty walking, Oculomotor apraxia, Agenesis of ...	OMIM:617595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Optic atrophy, Cerebellar cyst, Seizure, Hypoplasia of the retina, Retinal dyspl...	OMIM:253280
Immunodeficiency 66	Pustule, Meningitis, Recurrent skin infections	OMIM:618847
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Babinski sign, Optic atrophy, Reduced visual acuity, Clumsiness, Seizure, P...	ORPHA:309263
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Visual loss, Gen...	OMIM:254780
Systemic Lupus Erythematosus	Hemolytic anemia, Chorea, Depression, Seizure, Leukopenia, Retinopathy, Thrombocytopenia	ORPHA:536
Nmda Receptor Encephalitis	Orthostatic hypotension, Generalized-onset seizure, Involuntary movements, Orthostatic tachycardi...	ORPHA:217253
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Tremor, Vacuolated lymphocytes, Photophobia, Periodontitis, ...	ORPHA:167
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Cloni...	OMIM:619580
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Seizure, Athetos...	OMIM:615273
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Menin...	ORPHA:545
Joubert Syndrome 32	Ataxia, Tall stature, Large for gestational age	OMIM:617757
Unilateral Polymicrogyria	Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S...	ORPHA:268943
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Focal impaired awareness seizure	OMIM:259770
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618195
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Mcleod Syndrome	Generalized-onset seizure, Acanthocytosis, Splenomegaly, Chorea, Depression, Seizure, Impaired vi...	OMIM:300842
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Spastic hemip...	ORPHA:20
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness, Ataxia	OMIM:271250
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls, Anemia	OMIM:184850
Developmental And Epileptic Encephalopathy 2	Generalized-onset seizure, Multifocal seizures, Infantile spasms, Cerebral visual impairment, Sei...	OMIM:300672
Microcephaly 20, Primary, Autosomal Recessive	Blindness, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Agenesis of corpus callosum	OMIM:617914
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Horseshoe kidne...	ORPHA:46059
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Dystonia, Hypospad...	ORPHA:17
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Blindness, Abnormality of macular pigmentation	ORPHA:1573
Autosomal Dominant Hypocalcemia	Optic atrophy, Depression, Paresthesia, Emotional lability, Cortical myoclonus	ORPHA:428
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Optic disc pallor, Cerebellar atrophy, Blindness, Hypospadias, Bi...	OMIM:252010
Blindness-Scoliosis-Arachnodactyly Syndrome	Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation	ORPHA:171844
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Global glomerulosclerosis, Retinal dystrophy, Macular atrophy,...	OMIM:616307
Nabais Sa-De Vries Syndrome, Type 2	Hemiparesis, Seizure, Chorea	OMIM:618829
Leukodystrophy, Hypomyelinating, 10	Inability to walk, Babinski sign, Cerebral atrophy, Seizure, Hyperkinetic movements, Spasticity, ...	OMIM:616420
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation, Meningitis, High myopia	ORPHA:1117
Rheumatic Fever	Hemiballismus, Chorea, Gait disturbance, Fasciculations	ORPHA:3099
Episodic Ataxia Type 1	Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait	ORPHA:37612
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Seizure, Progressive cerebella...	OMIM:616640
Cancer-Associated Retinopathy	Vitritis, Photophobia, Pancreatic adenocarcinoma, Retinal atrophy, Thymoma, Paracentral scotoma, ...	ORPHA:71505
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Spastic paraplegia, Optic nerve dysplasia, Reduced visua...	OMIM:617296
Arima Syndrome	Hepatomegaly, Blindness, Proteinuria, Polyuria, Retinal dystrophy, Ataxia, Optic atrophy, Stage 5...	OMIM:243910
Pettigrew Syndrome	Cerebellar vermis hypoplasia, Optic atrophy, Gait ataxia, Choreoathetosis, Seizure, Spasticity, D...	OMIM:304340
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Inability to walk, Chorea, Brachial plexus neuropathy, Tip-toe gait	ORPHA:268
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Facial palsy, Abnormal cerebellum morphology, Vocal cord paralysis, Clumsiness, Ankle clo...	OMIM:211530
Non-Functioning Paraganglioma	Tremor, Cranial nerve compression, Hypertensive retinopathy, Vocal cord paralysis	ORPHA:94080
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hair-pulling, Ir...	ORPHA:447997
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Cafe-au-lait spot, Increased body weight, Attention deficit hyperactivity disorder	ORPHA:589905
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Myopia, Nyctalopia, High myopia, Rod-cone dystrophy, Cerebral cortical atrophy	OMIM:617763
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sinusitis, Recurrent candida infections, T lymphocytopenia...	ORPHA:83471
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Chronic mucocutaneous candidiasis, Conjunctivitis, Myoclonic spasms, Lar...	ORPHA:36913
Cranioectodermal Dysplasia 4	Nyctalopia, Recurrent pneumonia, Stage 5 chronic kidney disease, Hypermetropia, Bone marrow hypoc...	OMIM:614378
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Cerebral atrophy, Seizure, Hypertonia...	OMIM:618426
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Parkinsonism, Spastic tetraparesis, Inability to walk, Partial agenesis of the corpus callosum, O...	OMIM:619653
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Myositis, Abnormal retinal morphology, Maculopapular exanthe...	ORPHA:228119
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Refsum Disease, Classic	Ataxia, Nyctalopia, Abnormal renal physiology, Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Porphyria, Acute Intermittent	Dysuria, Urinary incontinence, Paralysis, Seizure, Urinary retention, Respiratory paralysis, Hepa...	OMIM:176000
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Ani...	OMIM:616959
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Seizure, Oculomotor apraxia, Spasticity	OMIM:612716
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,...	OMIM:619649
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Bilateral tonic-clonic seizure, Aganglionic megacolon, Seizure, Gait disturbance, Myoclon...	ORPHA:247262
Bardet-Biedl Syndrome 1	Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Ataxia, Hyperautofluorescent ...	OMIM:209900
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia	OMIM:277350
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Neurogenic bladder, Cerebral visual impairment, Optic atrophy, Reduced visual...	OMIM:616683
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia	OMIM:601042
Neonatal Alloimmune Neutropenia	Pneumonia, Severe infection, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Meni...	ORPHA:464370
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Myoclonus	ORPHA:1352
Myopathy, Tubular Aggregate, 1	Nyctalopia, Frequent falls	OMIM:160565
Holoprosencephaly	Abnormality of the spleen, Chorea, Optic atrophy, Seizure, Chorioretinal coloboma, Aplasia/Hypopl...	ORPHA:2162
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Multifocal seizures, Ataxia, Involuntary movements, Choreoathetosis, Status epilepticus, Spastici...	OMIM:615905
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Ataxia, Tremor, Seizure, Myoclonus, Gait imbalance	ORPHA:98794
Stickler Syndrome, Type I	Retinal detachment, Myopia, Blindness, Osteoarthritis, Arthritis, Vitreoretinopathy, Membranous v...	OMIM:108300
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Blindness, Extrapyramidal muscular rigidity, Ataxia, Postural...	ORPHA:67036
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Nyctalopia, Optic at...	ORPHA:96180
Neuroblastoma, Susceptibility To, 1	Anemia, Ataxia, Myoclonus, Horner syndrome	OMIM:256700
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Progressive neurologic deterioration	ORPHA:276608
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit...	OMIM:216900
Kufor-Rakeb Syndrome	Eyelid apraxia, Urinary incontinence, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, A...	ORPHA:306674
Rett Syndrome, Congenital Variant	Chorea, Seizure, Athetosis, Irritability, Apraxia, Spasticity	OMIM:613454
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Nyctalopia, Renal cyst, Horseshoe kidney, Visual field defect, Rod-cone dystrophy, Cerebral corti...	ORPHA:166035
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Clonus, Cerebral visual impairment, Spastic tetraplegia, Seizure, Aminoaciduria, Status epileptic...	OMIM:619055
Retinitis Pigmentosa 75	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co...	OMIM:617023
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene...	OMIM:613767
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Ataxia, Visual loss, Diplopia, Mediastinal lymphadenopathy, Op...	ORPHA:397
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first...	OMIM:300243
Cystinosis, Nephropathic	Photophobia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hepatomegal...	OMIM:219800
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Kinsship Syndrome	Bilateral tonic-clonic seizure, Spastic tetraparesis, Cerebral visual impairment, Focal-onset sei...	OMIM:619297
Mixed Connective Tissue Disease	Hepatomegaly, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Media...	ORPHA:809
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Limb myoclonus, Fe...	ORPHA:64280
Snakebite Envenomation	Paralysis, Pseudobulbar paralysis, Respiratory paralysis, Acute kidney injury, Thrombocytopenia	ORPHA:449285
Coccidioidomycosis	Abnormality of the spleen, Photophobia, Abnormality of the liver, Morbilliform rash, Mediastinal ...	ORPHA:228123
Toxin-Mediated Infectious Botulism	Diplopia, Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
9P13 Microdeletion Syndrome	Hypermetropia, Recurrent otitis media, Myoclonus, Hand tremor	ORPHA:324313
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen...	ORPHA:1435
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Neurogenic bladder, Constriction of peripheral visual field, Ataxia, Tremor, B...	OMIM:618527
Webb-Dattani Syndrome	Neurogenic bladder, Blindness, Bilateral tonic-clonic seizure, Hyposthenuria, Vesicoureteral refl...	OMIM:615926
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ...	OMIM:616468
Primary Sjögren Syndrome	Normocytic anemia, Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Abn...	ORPHA:289390
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Optic atrophy, Se...	OMIM:236670
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Eczema, Vocal ...	OMIM:617799
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
Autoinflammation With Infantile Enterocolitis	Skin rash, Elevated circulating C-reactive protein concentration, Increased circulating ferritin ...	OMIM:616050
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Recurrent upper respiratory tract infections, Enuresis, Seizure, R...	ORPHA:293987
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Abnormal lateral ventricle morphology, Autoimmune thro...	ORPHA:1855
Foodborne Botulism	Cerebral palsy, Paralysis, Diplopia, Diaphragmatic paralysis, Urinary retention	ORPHA:228371
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Blindness, Proteinuria, Poor coordination, Op...	OMIM:610965
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Epileptic spasm, Generalized myoclonic seizure, Atax...	ORPHA:86309
Hurler Syndrome	Splenomegaly, Neurodegeneration, Retinal degeneration, Hepatosplenomegaly	OMIM:607014
Perrault Syndrome 4	Disproportionate tall stature, Obesity, Cognitive impairment, Gait ataxia	OMIM:615300
Aica-Ribosuria Due To Atic Deficiency	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Seizure, Congenital blindness, Op...	OMIM:608688
Aica-Ribosiduria	Seizure, Congenital blindness	ORPHA:250977
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my...	ORPHA:169090
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration	OMIM:615919
Non-Functioning Pituitary Adenoma	Bitemporal hemianopia, Blindness, Anemia of inadequate production, Diplopia, Seizure, Hemianopia,...	ORPHA:91349
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Glioma, Retinal pigment epithelial mottling, T lymphocytopenia, B ly...	OMIM:251260
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Olivopontocerebellar hypoplasia, Optic atrophy, Seizure, Hypertonia, Myocl...	ORPHA:284339
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Nyctalopia, R...	OMIM:252940
Norrie Disease	Retinal detachment, Blindness, Optic atrophy, Seizure, Retinal dysplasia, Retinal fold	OMIM:310600
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem...	OMIM:610984
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi...	OMIM:210370
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Papilledema, Constriction of peripheral visual field, Proteinuria,...	OMIM:619471
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Meningitis,...	ORPHA:37042
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Blindness, Optic nerve dysplasia, Spasticity, Seizure, Retinal dysp...	OMIM:615287
Insulinoma	Abnormality of pain sensation, Transient global amnesia, Paresthesia, Increased body weight	ORPHA:97279
Glossopharyngeal Neuralgia	Dysesthesia, Cranial nerve compression, Vocal cord paralysis, Depression, Chiari type I malformat...	ORPHA:221098
Full Nf2-Related Schwannomatosis	Blindness, Remnants of the hyaloid vascular system, Amblyopia, Retinal hamartoma, Epiretinal memb...	ORPHA:637
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased body weight	OMIM:614450
Pineoblastoma	Seizure, Papilledema, Retinoblastoma, Paralysis	ORPHA:251909
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight, Depression	OMIM:615954
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Head titubation, Optic atrophy, Reduced visual acuity, Dysmetria, Bro...	OMIM:619708
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder	OMIM:274300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Broad-based gait, Bilateral tonic-clonic seizure with generalized onse...	ORPHA:2072
Adiposis Dolorosa	Memory impairment, Paresthesia, Obesity, Depression	ORPHA:36397
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Optic nerve compression, Hepatosplenomegaly, Periodic hypokalemic p...	OMIM:259730
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy	ORPHA:522077
Scorpion Envenomation	Hemifacial spasm, Ketonuria, Ataxia, Elevated circulating aspartate aminotransferase concentratio...	ORPHA:466677
Herpes Simplex Virus Stromal Keratitis	Keratitis, Blindness, Reduced visual acuity	ORPHA:137599
Isolated Complex I Deficiency	Optic disc pallor, Blindness, Hepatomegaly, Ataxia, Optic neuropathy, Proximal tubulopathy	ORPHA:2609
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Macular scar, Vitreous haze, Epiretinal membrane, Vitr...	ORPHA:279914
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Blindness, Ocular albinism, Photophobia, Inflammation of the large intestine...	OMIM:203300
Ethylene Glycol Poisoning	Ataxia, Facial palsy, Slurred speech, Euphoria, Seizure, Myoclonus	ORPHA:31826
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Clonic seizure, Hypertonia, Chorioretinal coloboma, Intention tremor, Ataxia, Depression,...	OMIM:619475
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, H...	ORPHA:468631
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Seizure, Blindness	OMIM:603387
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Constriction of peripheral visual field, Chronic active hepatitis, Asplenia, ...	OMIM:240300
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Blindness, Hypospadias, Chorioret...	ORPHA:2556
Meningioma	Papilledema, Hemifacial spasm, Abnormal central motor function, Ataxia, Facial palsy, Focal-onset...	ORPHA:2495
Microtriplication 11Q24.1	Speech apraxia, Seizure, Hyperkinetic movements, Retrocerebellar cyst	ORPHA:289522
Prolactinoma	Bitemporal hemianopia, Blindness, Diplopia, Seizure, Hemianopia, Sudden loss of visual acuity, He...	ORPHA:2965
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Choreoathetosis, Seizure, Progressive spastic quadriplegia, Nonprogressive ce...	ORPHA:431361
Ophthalmomandibulomelic Dysplasia	Blindness	ORPHA:2741
Fetal And Neonatal Alloimmune Thrombocytopenia	Hematuria, Blindness, Cerebral palsy, Neonatal alloimmune thrombocytopenia	ORPHA:853
Joubert Syndrome 5	Ataxia, Impaired renal concentrating ability, Oculomotor apraxia, Stage 5 chronic kidney disease,...	OMIM:610188
Pseudohypoparathyroidism Type 2	Laryngeal dystonia, Hypocalcemic seizures, Myoclonic spasms, Low urinary cyclic AMP response to P...	ORPHA:94090
Sepsis In Premature Infants	Hepatomegaly, Disseminated viral infection, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopeni...	ORPHA:90051
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper respiratory tract...	OMIM:253220
Neuroleptic Malignant Syndrome	Extrapyramidal muscular rigidity, Tremor, Leukocytosis, Chorea, Abnormal autonomic nervous system...	ORPHA:94093
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Cereb...	OMIM:619124
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Paresthesia, Fasciculations, Gait di...	ORPHA:682
Episodic Ataxia Type 7	Episodic ataxia, Diplopia, Hyperkinetic movements	ORPHA:209970
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Seizure, Hyperkinetic movements,...	ORPHA:3166
Cerebrooculonasal Syndrome	Hypoplasia of penis, Blindness	ORPHA:66625
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Periodic...	OMIM:276700
Developmental Malformations-Deafness-Dystonia Syndrome	Blindness, Generalized dystonia	ORPHA:79107
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ...	ORPHA:379
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Epileptic spasm, Exaggerated startle response, Involuntary movements, Cerebral...	ORPHA:438213
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Angiostrongyliasis	Diplopia, Hypereosinophilia, Unusual CNS infection, Seizure, Meningitis, Blurred vision	ORPHA:74
Momo Syndrome	Seizure, Blindness, Chorioretinal coloboma	ORPHA:2563
Non-24-Hour Sleep-Wake Syndrome	Blindness	ORPHA:73267
Musk, Inability To Smell	Blindness	OMIM:254150
Enhanced S-Cone Syndrome	Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Cogan Syndrome	Episcleritis, Blindness, Keratitis, Leukocytosis, Reduced visual acuity, Uveitis, Photophobia, Sc...	ORPHA:1467
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness	OMIM:204850
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Limb dystonia, Hypopigmentation of the fundus, Myopia, Hemolytic anemia, Hypermetropia, Seizure, ...	OMIM:175780
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Dysesthesia, Cranial nerve compression, Babinski sign, Vocal cord pa...	ORPHA:268882
Inhalational Botulism	Diplopia, Urinary retention, Paralysis	ORPHA:254504
Oromandibular Dystonia	Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ...	ORPHA:93958
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Recurrent ear infections, Heparan sulfate excre...	ORPHA:217085
Monosomy 18Q	Astrocytoma, Abnormal retinal morphology, Poor coordination, Choreoathetosis, Seizure, Cerebellar...	ORPHA:1600
Early-Onset Lafora Body Disease	Seizure, Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Seizure, Vocal cord paralysis, Arthritis	ORPHA:397744
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Tremor, Splenomegaly, Jaundice, Kerati...	ORPHA:525731
Tsh-Secreting Pituitary Adenoma	Bitemporal hemianopia, Abnormal visual field test, Blindness, Tremor, Diplopia, Seizure, Hemianop...	ORPHA:91347
Pituitary Dermoid And Epidermoid Cysts	Abnormal central motor function, Diplopia, Reduced visual acuity, Seizure, Sudden loss of visual ...	ORPHA:91351
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot...	ORPHA:2968
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Meningitis, Ureteral stenosis, Sei...	ORPHA:900
Night Blindness, Congenital Stationary, Type 1B	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n...	OMIM:257270
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Recurrent ear infections, Heparan sulfate excre...	ORPHA:217093
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Bilateral tonic-clonic seizure, Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcif...	ORPHA:73224
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Nyctalopia, Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Peripheral visual f...	OMIM:250410
Dysosteosclerosis	Seizure, Blindness, Facial paralysis, Optic atrophy	OMIM:224300
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Peritonitis,...	ORPHA:342
Gorham-Stout Disease	Lymphangioma, Torticollis, Osteomyelitis, Meningitis	ORPHA:73
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe...	ORPHA:51636
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma...	ORPHA:91495
Plasminogen Deficiency, Type I	Blindness, Recurrent upper respiratory tract infections, Nephrolithiasis, Conjunctivitis, Periodo...	OMIM:217090
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Ataxia, Overweight, Obesity, Memory impairment, Dementia, Mental deteriorat...	ORPHA:2822
Smith-Magenis Syndrome	Increased body weight, Impaired pain sensation	OMIM:182290
Pigmented Nodular Adrenocortical Disease, Primary, 4	Emotional lability, Increased body weight, Depression	OMIM:615830
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Gitelman Syndrome	Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Blurred vision, Enuresis, Seizure, Hypocalc...	OMIM:263800
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Cranial nerve compression, Hypertensive retinopathy, Vocal cord paralysis	ORPHA:276621
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Hepatomegaly...	ORPHA:580
Joubert Syndrome 8	Pigmentary retinopathy, Ataxia, Obesity	OMIM:612291
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia, Paralysis	OMIM:612300
Renal Tubular Acidosis Iii	Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Periodic paralysis	OMIM:267200
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Chronic lymphocytic meningitis, Neutrophilia, Ataxia, Severe periodontitis, Recurre...	ORPHA:99843
Mucoepithelial Dysplasia, Hereditary	Blindness, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerat...	OMIM:158310
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Infantile spasms, Hair-pulling, Cerebral atrophy, Generalized tonic seizure	OMIM:616393
Momo Syndrome	Blindness, Retinal coloboma	OMIM:157980
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Blindness, Proteinuria, Remnants of the hyaloid ...	OMIM:609049
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of vision, Keratoconjunctivitis sicca, Blindness, Recurrent respiratory infections	ORPHA:1806
Ophthalmomandibulomelic Dysplasia	Blindness	OMIM:164900
Senior-Loken Syndrome 3	Polyuria, Visual loss, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Ne...	OMIM:606995
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Involuntary movements, Ectopic kidney, Focal motor seizure, High myopia, Myoclonus, ...	ORPHA:3063
Congenital Microcoria	Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision	ORPHA:566
Melioidosis	Foot osteomyelitis, Brain abscess, Liver abscess, Unusual skin infection, Pneumonia, Abnormality ...	ORPHA:31202
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Anuria, Acute colitis, Pneumonia, Cerebral visual impairment, Pa...	ORPHA:544482
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Renal hypoplasia, Renal tubular dysfunction,...	ORPHA:37553
Immunodeficiency 68	Recurrent skin infections, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Recurrent meningi...	OMIM:612260
Wilson Disease	Depression, Failure to thrive, Increased body weight, Weight loss	ORPHA:905
Dermatoosteolysis, Kirghizian Type	Keratitis, Nyctalopia, Osteoarthritis	ORPHA:1657
Galloway-Mowat Syndrome 9	Choreoathetosis, Cerebellar atrophy, Cerebral cortical atrophy	OMIM:619603
Arachnoiditis	Abnormality of vision, Urinary bladder sphincter dysfunction, Meningitis	ORPHA:137817
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Optic nerve hyp...	OMIM:620330
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Spotty hypopigmentation, Increased body weight	OMIM:300860
Pseudohypoparathyroidism Type 1B	Conjunctivitis, Myoclonic spasms, Low urinary cyclic AMP response to PTH administration, Laryngea...	ORPHA:94089
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Depression, Memory impairment, Abdominal obesity, Cognitive impairment, Em...	ORPHA:189427
Igg4-Related Kidney Disease	Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph...	ORPHA:449395
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Tremor, Cranial nerve compression, Vocal cord paralysis, Retinal capill...	ORPHA:29072
Opsoclonus-Myoclonus Syndrome	Ataxia, Rigidity, Irritability, Myoclonus, Limb myoclonus	ORPHA:1183
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Increased body weight, Progressive neurologic deterioration, Large for gestational age	ORPHA:263455
Axenfeld-Rieger Syndrome, Type 2	Blindness, Hypospadias	OMIM:601499
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hepa...	ORPHA:797
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Paralys...	ORPHA:358
Pseudohypoparathyroidism Type 1A	Involuntary movements, Depression, Choreoathetosis, Irritability, Paresthesia, Myoclonic spasms, ...	ORPHA:79443
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Blindness, Keratitis, Photophobia, Keratoconjunctivitis sicca	OMIM:148210
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Nyctalopia, Leukocytosis, Optic atrophy, Renal hypopla...	OMIM:619321
Lowry-Wood Syndrome	Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss	OMIM:226960
Congenital Erythropoietic Porphyria	Hemolytic anemia, Blindness, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, ...	ORPHA:79277
Renpenning Syndrome 1	Blindness, Hypospadias, Phimosis, Renal hypoplasia, Cerebral atrophy, Hypermetropia, Seizure, Spa...	OMIM:309500
Doors Syndrome	Small cerebellar cortex, Bilateral tonic-clonic seizure, Optic atrophy, Focal impaired awareness ...	ORPHA:79500
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis, Abnormality ...	ORPHA:79102
Hepatoerythropoietic Porphyria	Hemolytic anemia, Blindness, Recurrent bacterial skin infections, Splenomegaly, Red urine, Red-br...	ORPHA:95159
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hype...	ORPHA:18
Trichinellosis	Skin rash, Diplopia, Babinski sign, Retinal hemorrhage, Central retinal artery occlusion, Hemipar...	ORPHA:863
Igg4-Related Dacryoadenitis And Sialadenitis	Blindness, Myositis, Retroperitoneal fibrosis, Thyroiditis, Lymphadenopathy, Tubulointerstitial n...	ORPHA:79078
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Erys...	OMIM:249100
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Retinal detachment, Blindness, Myopia, Recurrent pneumonia, Bladder diverticulum, Decreased urina...	OMIM:225400
Rodrigues Blindness	Blindness	OMIM:268320
Fuchs Endothelial Corneal Dystrophy	Visual loss, Nyctalopia, Reduced visual acuity	ORPHA:98974
Norrie Disease	Retinal detachment, Blindness, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula...	ORPHA:649
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Photophobia, Hepatic fibrosis, Otiti...	ORPHA:64
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Impaired temperature sensation, Increased body weight, Abdominal obesit...	ORPHA:398069
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Skin rash, Pust...	ORPHA:50918
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Photophobia, Conjunctivitis, Neutropenia, Abnormal penis morpholog...	ORPHA:95455
Menkes Disease	Seizure, Chorea, Hypertonia, Spasticity	ORPHA:565
Pseudohypoparathyroidism Type 1C	Conjunctivitis, Myoclonic spasms, Low urinary cyclic AMP response to PTH administration, Laryngea...	ORPHA:79444
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Leptospirosis	Papilledema, Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Retinal hem...	ORPHA:509
Mccune-Albright Syndrome	Blindness	OMIM:174800
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Stickler Syndrome	Retinal detachment, Blindness, Myopia, Recurrent respiratory infections, Hemiplegia/hemiparesis, ...	ORPHA:828
Sotos Syndrome	Attention deficit hyperactivity disorder, Overgrowth, Increased body weight, Tall stature	OMIM:117550
Andersen Cardiodysrhythmic Periodic Paralysis	Depression, Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Recurrent pharyngitis, Jaundice, Leukocytosis, Cervical lym...	ORPHA:2331
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad...	OMIM:617718
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Visual loss, Hypoplasia of penis, Blindness, Amblyopia	ORPHA:2250
Adrenocortical Carcinoma	Irritability, Increased body weight, Weight loss	ORPHA:1501
Acute Transverse Myelitis	Invasive parasitic infection, Urinary incontinence, Paraparesis, Babinski sign, Severe viral infe...	ORPHA:139417
Adenohypophysitis	Chronic lymphocytic meningitis, Diplopia, Progressive visual field defects, Normochromic anemia, ...	ORPHA:95512
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Schinzel-Giedion Syndrome	Epileptic spasm, Myeloid leukemia, Hypospadias, Recurrent pneumonia, Abnormality of the ureter, N...	ORPHA:798
Saul-Wilson Syndrome	Nyctalopia, Neutropenia	OMIM:618150
Leprosy	Blindness, Abnormality of the spleen, Uveitis, Abnormality of the liver, Iritis	ORPHA:548
Wiskott-Aldrich Syndrome	Recurrent herpes, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy, Absen...	OMIM:301000
Fraser Syndrome 1	Blindness, Hypospadias, Renal hypoplasia, Seizure, Abnormal thymus morphology, Micropenis	OMIM:219000
Joubert Syndrome 39	Overweight, Pain insensitivity	OMIM:619562
17Q11 Microdeletion Syndrome	Blindness, Abnormal central motor function, Retinal vascular proliferation, Focal-onset seizure, ...	ORPHA:97685
Weill-Marchesani Syndrome 1	Blindness, High myopia	OMIM:277600
Monosomy 22Q13.3	Impaired pain sensation, Hair-pulling, Seizure, Agenesis of corpus callosum, Cerebellar cortical ...	ORPHA:48652
Weill-Marchesani Syndrome 2	Blindness, High myopia	OMIM:608328
Plague	Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Slurred spee...	ORPHA:707
Cushing Disease	Increased body weight, Depression, Memory impairment, Truncal obesity, Abdominal obesity, Dementi...	ORPHA:96253
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Vocal cord paralysis, Thyroiditis, Sclerosing chol...	ORPHA:64744
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Increased circulating IgA level, Increased body weight, Weight loss, ...	ORPHA:2298
Microphthalmia, Syndromic 6	Myopia, Blindness, Retinal dystrophy, Renal hypoplasia, Cerebral cortical atrophy	OMIM:607932
Corneodermatoosseous Syndrome	Photophobia, Nyctalopia, Hemeralopia	ORPHA:3194
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Increased body weight	ORPHA:264580
Menke-Hennekam Syndrome 1	Seizure, Blindness, Recurrent upper respiratory tract infections, Hypermetropia	OMIM:618332
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Increased body weight	ORPHA:79240
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Blindness, Renal hypoplasia, Uret...	ORPHA:2052
Microphthalmia, Syndromic 1	Blindness, Hydroureter, Hypospadias, Optic disc coloboma, Renal hypoplasia, Spastic diplegia, Sei...	OMIM:309800
Trichotillomania	Hair-pulling	OMIM:613229
Cushing Syndrome Due To Ectopic Acth Secretion	Increased body weight, Weight loss, Depression, Truncal obesity, Abdominal obesity, Memory impair...	ORPHA:99889
Hellp Syndrome	Increased body weight	ORPHA:244242
Primrose Syndrome	Neurodegeneration, Seizure, Ataxia	OMIM:259050
Sacral Defect With Anterior Meningocele	Meningitis, Neurogenic bladder, Urinary retention	OMIM:600145
Carney Complex	Increased body weight, Abdominal obesity, Multiple lentigines, Multiple cafe-au-lait spots, Spott...	ORPHA:1359

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ppt1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ppt1.

No publications found that use IMPC mice or data for Ppt1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ppt1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ppt1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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