Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ppt1 mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Progressive microcephaly, Retinal degeneration, Ataxia, Seizure, Increased neur... OMIM:256730

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Dystonia, Hypertonia, Tetraparesis, Rigidity, Spasticity, At... ORPHA:225154
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Retinal degenerati... OMIM:204500
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Abnormality of extrapyramidal motor function... OMIM:204200
Neurodegeneration With Brain Iron Accumulation
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Opt... ORPHA:385
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Inertia, Violent behavior, Chorea, Gait disturbance, Abnormal pyram... ORPHA:216873
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Progressive microcephaly, Retinal degeneration, Ataxia, Seizure, Increased neur... OMIM:256730
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Clumsiness, Global brain atrophy, Spastic hemiparesis, Diffuse spongiform leukoence... ORPHA:282166
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Retinal degeneration, Ataxia, Seizure, Cerebellar atrophy, Increa... OMIM:256731
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Increased neuronal autofluorescent lipopig... OMIM:600143
Combined Saposin Deficiency
Generalized clonic seizure, Abnormal periventricular white matter morphology, Hypoplasia of the c... OMIM:611721
Ceroid Lipofuscinosis, Neuronal, 7
Visual loss, Pigmentary retinopathy, Cerebral atrophy, Neurodegeneration, Ataxia, Blindness, Cere... OMIM:610951
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Emotional blunting, Aggressive behavior, Abnormality of extrapyramidal motor functi... ORPHA:275864
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, A... ORPHA:352596
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Ataxia, Craniofacial dystonia, Myoclonus, Involuntary movemen... OMIM:617282
Developmental And Epileptic Encephalopathy 16
Dystonia, Abnormality of extrapyramidal motor function, Cerebral atrophy, Hemiparesis, Status epi... OMIM:615338
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Dystonia, Aggressive behavior, Apathy, Gait disturbance, Cerebral cortical atrophy,... OMIM:600795
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Abnormality of extrapyramidal motor function, Cerebral atrophy, Ataxia, Seizure, Increased neuron... OMIM:204300
Salt And Pepper Developmental Regression Syndrome
Global brain atrophy, Bilateral tonic-clonic seizure, Status epilepticus, Irritability, Myoclonus... OMIM:609056
Spinocerebellar Ataxia 7
Tremor, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Chorea, Progressive... OMIM:164500
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Progressive Non-Fluent Aphasia
Astrocytosis, Apraxia, Temporal cortical atrophy, Abnormality of extrapyramidal motor function, S... ORPHA:100070
Cerebral Visual Impairment
Clumsiness, Abnormal cerebral white matter morphology, Neurodegeneration, Oculomotor apraxia, Vis... ORPHA:447788
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Akinetic mutism, Abnormality of extrapyramidal motor function, Cerebral at... ORPHA:204
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Hepatomegaly, Seizure, M... OMIM:615924
Pontocerebellar Hypoplasia, Type 1E
Cerebellar hypoplasia, Cerebellar atrophy, Myoclonus, Optic atrophy, Hypoplasia of the pons OMIM:619303
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral atrophy, Hyperkinetic movements, Seizure, Cerebral visual impairment, Myoclonus, Seconda... OMIM:618497
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Cerebellar atrophy, Myoclo... OMIM:615362
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Hypoplasia of the pons, Seizure, Cerebral cortical atrophy, Myoclonus, Microcephaly, Op... OMIM:617669
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Gliosis, Aggressive behavior, Chorea, Limb... OMIM:607136
Hemimegalencephaly
Pachygyria, Gliosis, Atonic seizure, Hemiparesis, Focal tonic seizure, Status epilepticus, Seizur... ORPHA:99802
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Visual loss, Clumsiness, Chorea, Cerebral atrophy, Poor fine motor coordination, Ataxia, ... ORPHA:79263
Narp Syndrome
Progressive gait ataxia, Retinal pigment epithelial mottling, Myoclonic spasms, Ataxia, Seizure, ... ORPHA:644
Huntington Disease-Like 1
Basal ganglia gliosis, Incoordination, Aggressive behavior, Global brain atrophy, Chorea, Unstead... OMIM:603218
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Brain atrophy, Small cerebral cortex, Abnormal cerebral morphology, Abnormal neuron morphology, S... ORPHA:329228
Striatonigral Degeneration, Infantile
Dystonia, Optic atrophy, Choreoathetosis, Spasticity OMIM:271930
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Self-injurious behavior, Cerebral atrophy, Hyperkinetic move... OMIM:614254
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Cerebral atrophy, Hyperkinetic movements, Seizure, Cerebellar atrophy, Myoclonus... OMIM:616981
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Gait disturbance, Ataxia, Frontotemporal cerebral a... ORPHA:391417
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Focal whi... OMIM:607341
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Seizure, Cerebellar atrophy, Giant somatosensory evoked pot... OMIM:618876
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Aplasia/Hypoplasia of the corpus c... ORPHA:263516
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Decreased nerve conduction velocity, Emotional lability, Babinsk... ORPHA:98890
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Inertia, Chorea, Slurred speech, Abnormal nerve co... ORPHA:98755
3-Methylglutaconic Aciduria, Type Iii
Abnormality of extrapyramidal motor function, Chorea, Ataxia, Babinski sign, Optic atrophy, Spast... OMIM:258501
Leukodystrophy, Hypomyelinating, 14
Cerebral atrophy, Seizure, Blindness, Cerebellar atrophy, Microcephaly, Spasticity OMIM:617899
Autosomal Recessive Spastic Paraplegia Type 48
Hypoplasia of the corpus callosum, Ataxia, Lower limb spasticity, Spastic gait, Parkinsonism, Myo... ORPHA:306511
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Ataxia, Retinal dysplasia, Polymicrogyria, Cortical dysplasia, Microcephaly OMIM:615771
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Gliosis, Hypertonia, Myoclonic spasms, Abnormal autonomic nervous system phy... OMIM:614498
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Chorea, Hypertonia, Hypoplasia of the corpus callosum, Status epilepticus, Cer... OMIM:617864
Developmental And Epileptic Encephalopathy 40
Seizure, Cerebral cortical atrophy, Myoclonus, Choreoathetosis, Spasticity OMIM:617065
Developmental And Epileptic Encephalopathy 69
Corpus callosum atrophy, Hyperkinetic movements, Status epilepticus, Cerebral cortical atrophy, S... OMIM:618285
Peho-Like Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Status epilepticus, Seizure, Cerebellar atrophy, P... OMIM:617507
Pontocerebellar Hypoplasia, Type 2D
Abnormal periventricular white matter morphology, Chorea, Hypoplasia of the corpus callosum, Cere... OMIM:613811
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Thrombocytopenia, Seizure, Myoclonus, Anemia, Hepatosplenomegaly OMIM:610539
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Retinal degeneration, Ataxia, Seizure, Cerebellar atrophy, Babinski sig... OMIM:614322
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Ataxia, Seizure, Blindness, Corticospinal tract atrophy, Ret... OMIM:551500
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ataxia, Bradykinesia, S... ORPHA:248111
Huntington Disease-Like 2
Dystonia, Abnormal corpus striatum morphology, Chorea, Gait disturbance, Cerebral cortical atroph... ORPHA:98934
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Severely reduced visual acuity, Seizure, Blindness, Microcephaly, Optic atrophy, Spasticity OMIM:309555
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Seizure, Abnormal cerebellum morphology, In... OMIM:162350
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Neurodegeneration, Ataxia, Progressive leukoencephalopathy, Periventricular leuk... OMIM:615889
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, P... ORPHA:86909
Leukodystrophy, Hypomyelinating, 6
Tremor, Choreoathetosis, Dystonia, Ataxia, Seizure, Cerebellar atrophy, Microcephaly, Optic atrop... OMIM:612438
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Cerebel... OMIM:614860
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Emotional lability, Progress... ORPHA:254343
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Visual loss, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal... ORPHA:79262
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Seizure precipitated by febrile infection, Global bra... ORPHA:363558
Hsd10 Mitochondrial Disease
Aggressive behavior, Retinal degeneration, Seizure, Cerebral cortical atrophy, Spastic tetraplegi... OMIM:300438
Huntington Disease
Gait ataxia, Gliosis, Chorea, Bradykinesia, Seizure, Cerebellar atrophy, Rigidity, Neuronal loss ... OMIM:143100
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Diffuse cerebellar atrophy, Limb d... ORPHA:363710
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Gliosis, Aggressive behavior, Hypoplasia of the corpus callosum, Gait disturbance, Cereb... OMIM:221770
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Degeneration of anterior horn cells, Seizure, Tongue fasciculations, ... OMIM:159950
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells OMIM:600333
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Abnormal periventricular white matter morpholo... OMIM:612319
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:616187
Huntington Disease
Dystonia, Clumsiness, Poor fine motor coordination, Rigidity, Aggressive behavior, Chorea, Apathy... ORPHA:399
Late Infantile Neuronal Ceroid Lipofuscinosis
Atonic seizure, Low frustration tolerance, Myoclonic seizure, Hyperactivity, Periventricular whit... ORPHA:168491
Central Areolar Choroidal Dystrophy
Macular atrophy, Nyctalopia, Visual loss, Perifoveal ring of hyperautofluorescence, Reduced visua... ORPHA:75377
Epilepsy, Early-Onset, Vitamin B6-Dependent
Clonus, Hypertonia, Brain atrophy, Seizure, Myoclonus, Secondary microcephaly OMIM:617290
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babinski sign,... OMIM:607317
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Abno... ORPHA:2590
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Clumsiness, Focal T2 hyperintense thalamic lesion, Pi... ORPHA:79264
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Cerebral white matter atrophy, Cerebellar... ORPHA:98756
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Cerebral atrophy, Retinal degeneration, ... ORPHA:442835
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Spastic diplegia, Ataxia, Unsteady gait, Irritability, Myoclonus, Babinski sign, Prog... ORPHA:401866
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Status epileptic... ORPHA:71277
Autosomal Dominant Non-Syndromic Intellectual Disability
Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Cerebral visual impairme... ORPHA:178469
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Caudate atrophy, Seizure, Spastic tetraplegia, Optic atrophy, Choreoathetosis, Agenesis... OMIM:618238
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Aminoaciduria, Thrombocytopenia, Seizure, Cerebellar atrophy, Atrophy/Degenerat... OMIM:614946
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Chorea, Progressive spastic quadriplegia... ORPHA:309246
Developmental And Epileptic Encephalopathy 49
Seizure, Myoclonus, Cerebral calcification, Microcephaly, Optic atrophy, Dandy-Walker malformatio... OMIM:617281
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Chor... OMIM:125370
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Hypoplasia of the corpus callosum... OMIM:617672
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Unsteady gait, Frequent falls OMIM:616921
Riboflavin Transporter Deficiency
Tremor, Abnormal cranial nerve morphology, Aggressive behavior, Abnormal autonomic nervous system... ORPHA:97229
Foxg1 Syndrome
Inability to walk, Dystonia, Pachygyria, Agenesis of corpus callosum, Optic disc hypoplasia, Foca... ORPHA:561854
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizure with eyelid myoclonia, Abnor... OMIM:618587
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Choreoathetosis, Dystonia, Spastic paraparesis, Cerebr... OMIM:608804
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Myoclonus, Optic atrophy, Rigidity OMIM:619057
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Dy... OMIM:618917
Congenital Disorder Of Glycosylation, Type In
Reduced visual acuity, Ataxia, Hepatomegaly, Seizure, Myoclonus, Microcephaly, Spasticity OMIM:612015
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Microphthalmia-Brain Atrophy Syndrome
Multifocal seizures, Corpus callosum atrophy, Spasticity, Blindness, Atrophy/Degeneration affecti... ORPHA:77299
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia, Retinal degeneration OMIM:257970
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Aggressive behavior, Paresthesia, Chorea, Paroxysmal dyskinesia, Atax... ORPHA:98811
Developmental And Epileptic Encephalopathy 1
Global brain atrophy, Erratic myoclonus, Focal-onset seizure, Hypertonia, Abnormal pyramidal sign... OMIM:308350
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Anxiety, Upper motor neuron dysfunctio... ORPHA:401901
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Bilateral tonic-clonic seizure, Cerebellar atrophy... OMIM:618093
Creutzfeldt-Jakob Disease
Gait ataxia, Extrapyramidal muscular rigidity, Apathy, Hemiparesis, Abnormal cerebellum morpholog... OMIM:123400
Camos Syndrome
Renal insufficiency, Progressive extrapyramidal movement disorder, Ataxia, Brain atrophy, Seizure... ORPHA:83472
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Apraxia, Hypoplasia of the corpus callosum, Seizure, Cerebral cortical a... OMIM:618193
Rift Valley Fever
Abnormal retinal artery morphology, Visual loss, Scotoma, Cholestasis, Seizure, Jaundice, Meningi... ORPHA:319251
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Chorea, Focal-onset seizure, Cerebral atrophy, Hypoplasia of ... ORPHA:88616
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Focal segmental glomerulosclerosis, Action tremor, Nephropathy, Thr... OMIM:254900
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Aggressive behavior, Abnormality of extrapyramidal motor f... OMIM:300894
Dravet Syndrome
Global brain atrophy, Photosensitive myoclonic seizure, Poor fine motor coordination, Focal hemic... ORPHA:33069
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Seizure, Cerebral calcification, Myoclonus, Microcephaly, Choreoathetosis OMIM:261630
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Aggressive behavior, Decreased nerve conduction velocity, Hypertonia, Ataxia,... OMIM:618356
Sandhoff Disease
Ataxia, Hepatomegaly, Seizure, Blindness, Splenomegaly, Cherry red spot of the macula, Recurrent ... ORPHA:796
Hsd10 Disease, Infantile Type
Dystonia, Cerebral atrophy, Neurodegeneration, Spastic diplegia, Retinal degeneration, Frontotemp... ORPHA:391428
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Chorea, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Invol... OMIM:617804
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Steppage gait, Hypertonia, Ataxia, Cerebellar atrophy, Basal ganglia calcifi... OMIM:616505
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Paralysis, Ataxia, Seizure, Myoclonus, Babinski sign,... OMIM:606777
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Seizure, Cerebellar atrophy, Dysmetria, Microce... OMIM:617988
Scrub Typhus
Skin rash, Tremor, Renal insufficiency, Seizure, Meningitis, Encephalitis, Anterior uveitis, Sple... ORPHA:83317
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Pigmentary retinopathy, Ataxia, Seizure, Progressive leukoencephalopathy, Myoclonus, Ba... OMIM:252011
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Hyperactivity, Aggressive behavior, Upper limb spasticity, Chorea, Hyp... ORPHA:485350
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Focal-onset seizure, Paraparesis, Abnormality of vision, Bi... ORPHA:726
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Abnormal caudate nucleus morphology, Parkinsonism with favorable respons... ORPHA:314632
Spinocerebellar Ataxia 1
Abnormality of extrapyramidal motor function, Impaired proprioception, Spasticity, Dysdiadochokin... OMIM:164400
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Aggressive behavior, Chorea, Paroxysmal dyskinesia, Poor coordination, Focal-onset seiz... OMIM:619150
Caribbean Parkinsonism
Dystonia, Apraxia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxi... ORPHA:97355
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Hyperactivity, Chorea, Hypert... OMIM:610217
Aceruloplasminemia
Dystonia, Torticollis, Refractory anemia, Rigidity, Abnormal dentate nucleus morphology, Abnormal... ORPHA:48818
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Neurodegeneration, Tetraparesis, Cerebral atrophy, Head titubation, Ataxia, A... OMIM:615491
Spastic Paraplegia 82, Autosomal Recessive
Reduced visual acuity, Focal-onset seizure, Cerebral atrophy, Bilateral tonic-clonic seizure with... OMIM:618770
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Dystonia, Writer's cramp, Panic attack, Torticollis, Myoclonus, Anxiety, Limb m... ORPHA:36899
Nipah Virus Disease
Tremor, Seizure, Encephalitis, Myoclonus, Recurrent pharyngitis ORPHA:99825
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... ORPHA:98810
Aceruloplasminemia
Cogwheel rigidity, Abnormality of extrapyramidal motor function, Chorea, Blepharospasm, Retinal d... OMIM:604290
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Hypoplasia of the corpus callosum, Abnormal cerebral white matt... OMIM:616672
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Hepatomegaly, Myoclonus, Splenomegaly, Recurrent respiratory infe... ORPHA:139406
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Cerebellar atrophy, Myoc... ORPHA:139485
Bothnia Retinal Dystrophy
Nyctalopia, Pigmentary retinopathy, Retinitis, Central scotoma, Visual field defect, Retinal pigm... ORPHA:85128
Mental Retardation, Autosomal Recessive 6
Seizure, Tremor, Involuntary movements, Myoclonus OMIM:611092
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Developmental And Epileptic Encephalopathy 92
Ataxia, Seizure, Cerebral visual impairment, Myoclonus, Secondary microcephaly, Spasticity OMIM:617829
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Tremor, Gait ataxia, Poor motor coordination, Hepatic steatosis, Cerebral atrophy, Tet... ORPHA:363400
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Cerebral visual impairme... ORPHA:208447
Late-Onset Retinal Degeneration
Visual loss, Scotoma, Retinal degeneration, Blindness, Adult-onset night blindness, Sub-RPE depos... OMIM:605670
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Mental Retardation, Autosomal Dominant 39
Aggressive behavior, Obesity OMIM:616521
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Abnormality of extrapyramidal motor function, Toe walking, Emotional lability, Bull's e... ORPHA:157850
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Diplopia, Abnormality of extrapyramidal motor function, Cerebral atrophy, Seizure, Myoclonus, Neu... OMIM:604218
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Aplasia/Hypoplasia of the corpus callosum, Hepatomegaly, Cerebral cortical atrophy, Seizure, Ence... ORPHA:1194
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Gait disturbance, Seizure, Cerebellar atrophy, Myoclonus, Secondary microcepha... OMIM:618241
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dystonia, Cerebral atrophy, Cerebellar atrophy, Limb hypertonia, Choreoathetosis, Rod-cone dystrophy OMIM:618247
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Seizure, Myoclonus OMIM:612736
X-Linked Neurodegenerative Syndrome, Hamel Type
Seizure, Blindness, Spasticity ORPHA:85336
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Amaurosis fugax, Myoclonus, Hand tremor, Generalized-onset seizure ORPHA:86814
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Convulsive status epilepticus, Chorea, Self-injurious behavior, Foca... OMIM:618760
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Seizure, Status... OMIM:616098
Xylosidase Deficiency
Seizure, Microcephaly, Blindness, Choreoathetosis OMIM:278900
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Bilateral tonic-clonic seizure, Seizure, Enhancement of the C-reflex, Myoclonus OMIM:615127
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Neurodegeneration, Cerebral atrophy, Abnormal pyramidal sign, Ataxia, Seizure, Cerebella... OMIM:256600
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Cer... ORPHA:98763
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Focal-onset seizure, Hyperkinetic movements, Myoclonic absen... OMIM:619317
L-2-Hydroxyglutaric Aciduria
Seizure, Spastic tetraparesis, Encephalitis, Abnormality of extrapyramidal motor function ORPHA:79314
Severe Canavan Disease
Cerebral white matter atrophy, Megalencephaly, Bilateral tonic-clonic seizure, Seizure, Blindness... ORPHA:314911
Pontocerebellar Hypoplasia, Type 4
Gliosis, Hypertonia, Cerebellar hypoplasia, Spasticity, Seizure, Loss of Purkinje cells in the ce... OMIM:225753
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Choreoathetosis, Generalized myoclonic seizure, Abnormality of extrapyramidal... OMIM:301020
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Abnormality of extrapyramidal moto... ORPHA:500180
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Tortico... OMIM:618425
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Pyruvate Dehydrogenase E2 Deficiency
Eye of the tiger anomaly of globus pallidus, Paroxysmal dystonia, Speech apraxia, Difficulty walk... ORPHA:79244
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clonic seizure, Giant somatosens... OMIM:613608
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Reduction of oligodendroglia, Progressive spastic quadriplegia, Abnormal pyrami... OMIM:312080
Diaminopentanuria
Neurodegeneration, Ataxia, Cystinuria, Seizure, Hyperlysinuria, Spasticity OMIM:222350
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Chorea, Striatal T2 hyperintensi... ORPHA:494541
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Focal hemifacial clonic seizure, Prolonged somatosensory evoked pote... OMIM:608105
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:612016
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Gait ataxia, Chorea, Ataxia, Cerebellar vermis atrophy, Dysmetria OMIM:618501
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Gliosis, Chorea, Slurred speech, Poor fine motor coordin... ORPHA:157941
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Cerebellar atrophy, Bilateral tonic-clonic seizure with ge... OMIM:619028
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Severe Epstein Barr virus infection, Neutropenia, Pancytopenia, ... OMIM:308240
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Renal hypoplasia, Limb ataxia, Cerebral atrophy, Spastic... ORPHA:135
Macular Dystrophy, Vitelliform, 4
Vitelliform-like macular lesions, Reduced visual acuity, Moderately reduced visual acuity, Drusen... OMIM:616151
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Chorea, Neutropenia, Hemiplegia/hemiparesis, Thrombocytopenia, Anemia, Optic ... ORPHA:289916
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Reticulocytosis, Cerebral atrophy, Ataxia, Irritability, Choreoathetosis OMIM:612126
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:208700
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... ORPHA:397946
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Dystonia, Chorea, Neurodegeneration, Blepharospasm, Ataxia, Bradykinesia... OMIM:606159
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Central scotoma, Visual impairment, Bull's eye maculopathy, Optic disc pal... OMIM:616170
Dystonia 11, Myoclonic
Tremor, Agoraphobia, Writer's cramp, Torticollis, Anxiety, Myoclonus OMIM:159900
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Seizure, Progressive choreoathetosis, Rigidity OMIM:118750
Pontocerebellar Hypoplasia, Type 7
Spastic paraplegia, Hypoplasia of the corpus callosum, Cerebral atrophy, Oculomotor apraxia, Cere... OMIM:614969
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Stargardt Disease 3
Macular atrophy, Macular flecks, Reduced visual acuity, Visual impairment, Macular dystrophy OMIM:600110
Pontocerebellar Hypoplasia, Type 2E
Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Secondary microcephaly, Opisthot... OMIM:615851
Crigler-Najjar Syndrome
Seizure, Jaundice, Encephalitis, Abnormality of the liver ORPHA:205
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Microcephaly OMIM:612390
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Myoclonus, Optic atrophy... OMIM:614299
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Focal-onset seizure, Hypertonia, Ataxia, Brain atrophy, Myoclonic seizure, B... OMIM:619092
Spastic Ataxia 9, Autosomal Recessive
Reduced visual acuity, Abnormal pyramidal sign, Ataxia, Cerebellar vermis atrophy, Babinski sign,... OMIM:618438
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Seizure, Status epilepticus, Tetraplegia, Ch... OMIM:614820
Friedreich Ataxia
Inability to walk, Decreased motor nerve conduction velocity, Gait ataxia, Dystonia, Impaired pro... ORPHA:95
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent bacterial infections, Recurrent otitis media, Recurrent urin... OMIM:307200
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Impaired proprioception, Limb ataxi... ORPHA:101
Gm1 Gangliosidosis
Tremor, Abnormality of extrapyramidal motor function, Abnormal cerebral white matter morphology, ... ORPHA:354
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Optic Atrophy 11
Facial diplegia, Hyperkinetic movements, Cerebellar hypoplasia, Ataxia, Brain atrophy, Dysmetria,... OMIM:617302
Retinitis Pigmentosa 11
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Perifoveal ring of hyperaut... OMIM:600138
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Hemophagocytosis, Skin rash, Elevated hepatic transaminase, Erythroder... ORPHA:540
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spasticity, Tetraplegia/tetraparesis, Progressive spastic paraparesis, Reduced visual... ORPHA:506353
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Recur... OMIM:209920
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Aggressive behavior, Dy... OMIM:615157
Japanese Encephalitis
Pill-rolling tremor, Abnormality of the internal capsule, Abnormality of extrapyramidal motor fun... ORPHA:79139
Baker-Gordon Syndrome
Inability to walk, Dystonia, Self-injurious behavior, Hyperkinetic movements, Ataxia, Stereotypy,... OMIM:618218
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, Seizure, Cerebellar atrop... ORPHA:98768
Polymyoclonus, Infantile
Irritability, Myoclonus, Ataxia OMIM:263550
Chorea, Benign Hereditary
Chorea, Gait disturbance, Anxiety OMIM:118700
Leber Congenital Amaurosis 1
Eye poking, Pigmentary retinopathy, Reduced visual acuity, Hepatomegaly, Blindness, Fundus atroph... OMIM:204000
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Partial agenesis of the corpus callosum, Spasticity, Seizure, Cerebral cortical atrophy... ORPHA:500144
Optic Atrophy 3, Autosomal Dominant
Tremor, Reduced visual acuity, Abnormality of extrapyramidal motor function, Scotoma, Optic atrop... OMIM:165300
Macular Dystrophy, Vitelliform, 5
Vitelliform-like macular lesions, Reduced visual acuity, Central scotoma, Moderately reduced visu... OMIM:616152
Neuroferritinopathy
Dystonia, T2 hypointense thalamus, Palatal myoclonus, Emotional lability, Abnormal dentate nucleu... ORPHA:157846
Glycine Encephalopathy
Lethargy, Aggressive behavior, Seizure, Irritability, Myoclonus, Hyperactivity, Agenesis of corpu... OMIM:605899
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Cerebral atrophy, Seizure, Tetraplegia, Microcephaly, Choreoathetosis, Spasticity OMIM:616034
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Chorea, Self-injurious behavior, Cerebral atrophy, Hyperkinetic movements, Hypoplasia o... OMIM:617493
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Hypopla... ORPHA:289266
Tay-Sachs Disease
Dystonia, Clumsiness, Gliosis, Global brain atrophy, Poor fine motor coordination, Ankle clonus, ... ORPHA:845
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebellar vermis hypoplasia, Oculomotor aprax... ORPHA:251347
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Global brain atrophy, Abnormality of extrapyramidal motor function, Hyperactivity, Rigi... OMIM:234200
Zika Virus Disease
Macular atrophy, Skin rash, Myelitis, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal ... ORPHA:448237
Early Myoclonic Encephalopathy
Recurrent respiratory infections, Focal tonic seizure, Myoclonus, Focal motor seizure, Focal seiz... ORPHA:1935
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Hypoplasia of the corpus callosum, Eyelid myoclonus, Abnormal pyramidal s... OMIM:618060
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Reduced visual acuity, Central scotoma, Retinal pigment... OMIM:608051
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Seizure, Encephalitis OMIM:616532
Typhoid
Skin rash, Tremor, Hypertonia, Ataxia, Hepatomegaly, Encephalitis, Splenomegaly ORPHA:99745
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease, Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:610189
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Paresthesia, Abnormality of extrapyramidal motor function, ... ORPHA:79279
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Neurodegeneration, Retinal telangiectasia, Cerebellar atrophy, Microcephaly ORPHA:438134
Migraine, Familial Hemiplegic, 3
Hemiplegia, Hemiparesis, Seizure, Blindness, Photophobia OMIM:609634
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Torticollis, Lingual dystonia, Myoclonus, L... OMIM:602629
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Cerebellar hypoplasia, Degeneration of anterior horn cells, Ataxia, Neuron... OMIM:607596
Pfapa Syndrome
Hepatomegaly, Encephalitis, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis ORPHA:42642
Krabbe Disease
Autoimmune thrombocytopenia, Hypertonia, Neurodegeneration, Seizure, Blindness, Optic atrophy, De... OMIM:245200
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retina... OMIM:180210
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Axial dystonia, Hypertonia, Spastic diplegia, Head titubation, Toe walking, Upper limb ... ORPHA:300605
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization, Reduced visual acuity OMIM:617111
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Dysmetr... OMIM:618088
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior ORPHA:356996
3-Methylglutaconic Aciduria Type 7
Abnormality of extrapyramidal motor function, Hypertonia, Neutropenia, Renal insufficiency, Spast... ORPHA:445038
Sydenham Chorea
Chorea, Hemiballismus, Emotional lability, Unsteady gait, Irritability ORPHA:306731
Aspergillosis
Invasive pulmonary aspergillosis, Bronchiectasis, Unusual CNS infection, Neutropenia, Pneumonia, ... ORPHA:1163
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Brain atrophy, Seizure, Cerebellar atrophy, Microcephaly OMIM:618741
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Nyctalopia, Chorioretinal atrophy, Blindnes... OMIM:613750
Hyperekplexia 4
Seizure, Hypertonia, Cerebral atrophy, Myoclonus OMIM:618011
Metachromatic Leukodystrophy
Dystonia, Chorea, Gait disturbance, Abnormal cerebral white matter morphology, Ataxia, Emotional ... OMIM:250100
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Seizure, Myoclonus, Anemia, Progressive microcephaly OMIM:610090
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis, Ataxia OMIM:172500
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Visual loss, Microvesicular hepatic steatosis, Elevated hepatic transamin... OMIM:203700
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Huntington Disease-Like 2
Dystonia, Chorea, Apathy, Bradykinesia, Action tremor, Irritability, Anxiety, Rigidity OMIM:606438
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Chorea, Seizure, Microcephaly, Spasticity OMIM:613970
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Cerebral atrophy, Poor coordination, Seizure, Blindness, Homocystinuria OMIM:250940
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia, Dystonia OMIM:611031
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Myoclonus, Microcephaly, Spast... OMIM:618426
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Axonal degeneration, Global brain atrophy, Neurodegeneration, Poor co... ORPHA:478029
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance, Emotional lability OMIM:607674
Lethal Congenital Contracture Syndrome 7
Hypoplasia of the corpus callosum, Cerebral atrophy, Paralysis, Cerebellar atrophy, Small basal g... OMIM:616286
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Reduced visual acuity, Abnormal cerebral white matter morphology, Abnorma... OMIM:614947
Primary Angiitis Of The Central Nervous System
Diplopia, Reduced visual acuity, Paraparesis, Recurrent subcortical infarcts, Tetraparesis, Hemip... ORPHA:140989
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Cerebral atrophy, Pneumonia, Brain atrophy, Agenesis of corpus callosum,... ORPHA:85179
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Stereotypy, Choreoathetosis OMIM:617270
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Hypertonia, Bilateral... ORPHA:306
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Visual impairment, Macular... OMIM:153700
Striatonigral Degeneration, Infantile, Mitochondrial
Difficulty walking, Frequent falls, Paroxysmal choreoathetosis, Babinski sign OMIM:500003
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Spastic paraplegia, Myopia, Recurrent urinary tract infections, Seizure, Cerebral cortical atroph... ORPHA:847
Epilepsy, Progressive Myoclonic, 9
Seizure, Status epilepticus, Myoclonus, Gait ataxia OMIM:616540
Basal Ganglia Calcification, Idiopathic, 6
Seizure, Basal ganglia calcification, Parkinsonism, Involuntary movements, Choreoathetosis OMIM:616413
Cimdag Syndrome
Dystonia, Chorea, Pontocerebellar atrophy, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, C... OMIM:619273
Listeriosis
Peritonitis, Visual loss, Pericarditis, Acute kidney injury, Pneumonia, Jaundice, Myocarditis, He... ORPHA:533
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Hypoplasia of the corpus callosum, Hyperton... OMIM:618877
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Gliosis, Chorea, Abnormal cerebral white matter morphology, Cerebral atrophy,... OMIM:618321
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Hypoplasia of the corpus callosum, Gait disturbance, Neurodegenera... OMIM:615643
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Chorea, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Sei... OMIM:612389
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Hypertonia, Brain atrophy, Seizure, Blindness, Vesi... ORPHA:3078
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Anxiety, Dysmetria, Myoclonus, Attent... OMIM:619191
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Dilated fourth ventricle, Torticollis, Cerebellar vermis atrophy, Babinski sign, Limb dys... OMIM:619054
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Chromosome Xp11.3 Deletion Syndrome
Nyctalopia, Blindness, Visual impairment, Microcephaly, Rod-cone dystrophy OMIM:300578
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Eyelid myoclonus, Cerebral atrophy, Ataxia, Thrombocytopenia, Jaundice, Pan... OMIM:613839
Schindler Disease, Type I
Seizure, Optic atrophy, Myoclonus, Spasticity OMIM:609241
Peho Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Seizure, Cerebellar atrophy, Polymicrogyria, Myocl... OMIM:260565
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Episodic ataxia, Incoordination, Truncal ataxia, Gait ataxia, Visual loss, Hemiparesis, Blindness... OMIM:601338
Gm2-Gangliosidosis, Ab Variant
Chorea, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, N... OMIM:272750
Bardet-Biedl Syndrome 12
Cognitive impairment, Obesity OMIM:615989
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Tetraplegia... OMIM:104290
Retinitis Pigmentosa 80
Macular atrophy, Blindness, Progressive visual loss OMIM:617781
Lennox-Gastaut Syndrome
Generalized tonic seizure, Aggressive behavior, Focal-onset seizure, Atonic seizure, Bilateral to... ORPHA:2382
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... ORPHA:3095
Epilepsy, Progressive Myoclonic, 6
Tremor, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:614018
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Seizure, Spastic tetraplegia, Myoclonus, Microcephaly OMIM:614462
Developmental And Epileptic Encephalopathy 27
Dystonia, Chorea, Seizure, Microcephaly, Spasticity OMIM:616139
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Paraparesis, Tetraparesis, Ataxia, Seizure, Thrombocytopenia, Leukopenia, Anemia, Optic... ORPHA:27
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Dystonia, Lethargy, Basal ganglia cysts, Cerebral atrophy, Seizure, Microcephaly... OMIM:312170
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle clonus, Progressive c... ORPHA:284289
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Ataxia, Seizure, Cerebral cortical atrophy, Microcephaly, Optic atrop... ORPHA:702
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Neurodegenerati... OMIM:614298
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Tremor, Dystonia, Rigidity, Abnormal caudate nucleus morphology, Pallidal degener... ORPHA:25
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Hypertonia, Tetraparesis, Rigidity, Chorea, Abnormal pyramidal sign, Craniofacial dysto... OMIM:607483
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Impaired pain sensation, Hand tremor, Impaired vibratory sensation, Paresthesia,... ORPHA:99947
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... OMIM:618317
Retinitis Pigmentosa 29
Attenuation of retinal blood vessels, Blindness, Rod-cone dystrophy OMIM:612165
Combined Oxidative Phosphorylation Deficiency 24
Agenesis of corpus callosum, Gliosis, Hypoplasia of the corpus callosum, Neurodegeneration, Statu... OMIM:616239
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Dystonia, Microcephaly, Optic atrophy, Choreoathetosis, Spasticity OMIM:617664
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Ataxia, Seizure, Myoclonus, Dysmetria, Agenesis of corpus callosum OMIM:250620
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Reduced visual acuity, Macular dystrophy OMIM:601553
Leber Congenital Amaurosis 2
Eye poking, Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204100
Pontocerebellar Hypoplasia Type 4
Seizure, Primary microcephaly, Hypertonia, Myoclonus ORPHA:166063
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Occipital cortical atrophy, Hypoplasia of the corpus callosum, Atonic ... ORPHA:411986
Nephronophthisis 15
Nephronophthisis, Retinal degeneration, Seizure, Blindness, Hepatic failure OMIM:614845
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Visual impairment, Congenital stationary night blindness OMIM:300071
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Hypertonia, Ataxia, Bradykinesia, Seizure, Parkinsonism, Irritability... OMIM:261640
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Seizure, Cerebral cortical atrophy, Blindness, Recurrent pneumonia, Tetrapleg... ORPHA:3137
Retinitis Pigmentosa Inversa With Deafness
Blindness, Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Whipple Disease
Pericarditis, Abnormal pyramidal sign, Uveitis, Ataxia, Hepatomegaly, Seizure, Myoclonus, Anemia,... ORPHA:3452
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Neutropenia, Seizure, Thrombocytopenia, Anemia, Splenomegaly, Optic atrophy, ... ORPHA:79312
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Recurrent urinary tract infections, Pneumonia, Septic arthritis, Pyode... OMIM:300755
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia, Brain atrophy, Seizure, Myoclonus OMIM:618225
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Gliosis, Paralysis, Amyotrophic lateral sclerosis, Athetosis OMIM:300857
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism, Abnormal corpus striatum morphology OMIM:616922
Developmental And Epileptic Encephalopathy 68
Clonus, Status epilepticus, Cerebral cortical atrophy, Exaggerated startle response, Myoclonus, M... OMIM:618201
Persistent Placoid Maculopathy
Abnormal macular morphology, Metamorphopsia, Reduced visual acuity, Scintillating scotoma, Retina... ORPHA:97341
Dystonia 28, Childhood-Onset
Dystonia, Gait disturbance, Spasticity, Toe walking, Craniofacial dystonia, Laryngeal dystonia, T... OMIM:617284
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus, Generalized myoclonic seizure OMIM:220300
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Nyctalopia, Reduced visual acuity, Attenuation of r... OMIM:614500
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Reduced visual acuity, Hypoplasia of the corpus callosum, Central scotoma, Ba... OMIM:615035
Retinal Capillary Malformation
Retinal capillary hemangioma, Reduced visual acuity, Myopia, Epiretinal membrane, Blurred vision,... ORPHA:71213
Bardet-Biedl Syndrome 21
Retinal atrophy, Elevated hepatic transaminase, Horseshoe kidney, Myopia, Retinal thinning, Cone/... OMIM:617406
Hartnup Disease
Skin rash, Abnormal urinary color, Abnormality of vision, Ataxia, Seizure, Neutral hyperaminoacid... ORPHA:2116
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Bi... OMIM:614487
Cysticercosis
Diplopia, Iridocyclitis, Posterior fossa cyst at the fourth ventricle, Focal-onset seizure, Ataxi... ORPHA:1560
Spastic Paraplegia 81, Autosomal Recessive
Reduced visual acuity, Upper limb spasticity, Ankle clonus, Lower limb spasticity, Cerebral visua... OMIM:618768
Dystonia With Ringbinden
Chorea, Dystonia, Gait disturbance OMIM:224550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Anencephaly, Retinal dysplasia, Seizure, Blindness, Optic nerve dysplasia,... OMIM:615287
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Cerebellar hypoplasia, Oculomotor apraxia, Ata... ORPHA:313772
Legionnaires Disease
Renal insufficiency, Endocarditis, Pericarditis, Hematuria, Myocarditis, Lymphopenia, Ataxia, Jau... ORPHA:549
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemiplegia, Hemophagocytosis, Skin rash, Elevated hepatic transaminase, Hypertonia, Ataxia, Pancy... OMIM:603553
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Chorioretinal dysplasia, Visual impairment, Reduced visual acuity OMIM:616335
Retinitis Pigmentosa 71
Elevated hepatic transaminase, Attenuation of retinal blood vessels, Drusen, Blindness, Pancreati... OMIM:616394
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Gait disturbance, Degeneration of anterior horn cells, Distal sensory impairment, Tetrap... OMIM:604484
Mitochondrial Dna Depletion Syndrome 17
Chorea, Cerebral atrophy, Hemiballismus, Spastic tetraparesis, Seizure, Status epilepticus, Cereb... OMIM:618567
Usher Syndrome Type 1
Visual loss, Nyctalopia, Scotoma, Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy... ORPHA:231169
Familial Infantile Myoclonic Epilepsy
Clumsiness, Thick cerebral cortex, Focal-onset seizure, Blepharospasm, Bilateral tonic-clonic sei... ORPHA:352582
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Dy... ORPHA:70474
Cone-Rod Dystrophy, X-Linked, 1
Nyctalopia, Reduced visual acuity, Retinal pigment epithelial mottling, Retinal pigment epithelia... OMIM:304020
Microphthalmia, Isolated 5
Nyctalopia, Optic disc drusen, Rod-cone dystrophy, Reduced visual acuity, Retinal pigment epithel... OMIM:611040
Leber Congenital Amaurosis 4
Macular atrophy, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/co... OMIM:604393
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... OMIM:606183
Night Blindness, Congenital Stationary, Type 1G
Blindness, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Hypertonia, Central scotoma, Cerebral white matte... ORPHA:543470
Episodic Kinesigenic Dyskinesia 1
Seizure, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Macular Dystrophy, Retinal, 3
Reduced visual acuity, Central scotoma, Retinal pigment epithelial atrophy, Color vision defect, ... OMIM:608850
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Pettigrew Syndrome
Gait ataxia, Self-injurious behavior, Seizure, Abnormality of the basal ganglia, Cerebral calcifi... OMIM:304340
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Combined Oxidative Phosphorylation Deficiency 11
Pachygyria, Renal hypoplasia, Hypoplasia of the corpus callosum, Hepatic steatosis, Hepatomegaly,... OMIM:614922
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Self-injurious behavior, Myoclonus, Aggressive behavior OMIM:300699
Huntington Disease-Like 3
Dystonia, Frontal cortical atrophy, Abnormality of extrapyramidal motor function, Chorea, Abnorma... OMIM:604802
Developmental And Epileptic Encephalopathy 64
Inability to walk, Dystonia, Chorea, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, He... OMIM:618004
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hype... ORPHA:13
Cerebral Sclerosis, Diffuse, Scholz Type
Spastic paraplegia, Blindness OMIM:302700
Macular Dystrophy, Patterned, 1
Nyctalopia, Pattern dystrophy of the retina, Dark choroid, Metamorphopsia, Choroidal neovasculari... OMIM:169150
Developmental And Epileptic Encephalopathy 35
Cerebral atrophy, Brain atrophy, Seizure, Limb tremor, Status epilepticus, Microcephaly OMIM:616647
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemiplegia, Hemophagocytosis, Hypertonia, Ataxia, Thrombocytopenia, Jaundice, Hepatomegaly, Splen... OMIM:267700
Thyrocerebrorenal Syndrome
Slurred speech, Thrombocytopenia, Seizure, Myoclonus, Renal insufficiency, Nephritis, Nonprogress... ORPHA:3327
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia, Cerebral atrophy, Seizure, Blindness, Homocystinuria OMIM:236270
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Progressive extrapyramidal movement disorder, Abnormality of extra... ORPHA:382
Canavan Disease
Elevated urinary N-acetylaspartic acid level, Brain atrophy, Blindness, Opisthotonus, Optic atrop... OMIM:271900
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy... ORPHA:83629
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Dystonia, Limb ataxia, Oculomotor apraxia, ... OMIM:208920
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Adrenoleukodystrophy
Spastic paraplegia, Urinary bladder sphincter dysfunction, Visual loss, Incoordination, Truncal a... OMIM:300100
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Abnormal cerebral white matter morphology, Neur... OMIM:618476
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dense calcifications in the cerebellar dentate nucleus, Limb dysmetri... OMIM:213600
Angelman Syndrome
Atonic seizure, Cerebral cortical atrophy, Hyperactivity, Happy demeanor, Aggressive behavior, At... ORPHA:72
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
Subacute Sclerosing Panencephalitis
Encephalitis OMIM:260470
Geniospasm 1
Chin myoclonus, Anxiety OMIM:190100
Bardet-Biedl Syndrome 18
Cognitive impairment, Obesity OMIM:615995
Classic Pantothenate Kinase-Associated Neurodegeneration
Eye of the tiger anomaly of globus pallidus, Pigmentary retinopathy, Seizure, Opisthotonus, Blind... ORPHA:216866
Sialidosis Type 1
Tremor, Slurred speech, Gait disturbance, Ataxia, Seizure, Splenomegaly, Myoclonus, Decreased ner... ORPHA:812
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Retinal nerve fiber edema, Reduced visual acuity, Central scotoma, Central retinal vessel vascula... OMIM:619382
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
D-Glyceric Aciduria
Aminoaciduria, Seizure, Opisthotonus, Cerebral cortical atrophy, Spastic tetraplegia, Myoclonus, ... OMIM:220120
Amoebiasis Due To Free-Living Amoebae
Pustule, Increased red blood cell count, Visual loss, Diplopia, Unusual skin infection, Abnormal ... ORPHA:68
Pandas
Claustrophobia, Clumsiness, Tics, Chorea, Agoraphobia, Emotional lability, Irritability, Abnormal... ORPHA:66624
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Gliosis, Abnormality of extrapyramidal... ORPHA:275872
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Decreased motor nerve conduction velocity, Paralysis OMIM:605285
Dystonia 15, Myoclonic
Writer's cramp, Dystonia, Myoclonus OMIM:607488
Sorsby Fundus Dystrophy
Blindness, Macular dystrophy OMIM:136900
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Nasu-Hakola Disease
Chorea, Oculomotor apraxia, Seizure, Cerebral cortical atrophy, Irritability, Cerebral calcificat... ORPHA:2770
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal cerebral white matter morphology, Seizure, Absent brainstem auditory responses, Facial p... OMIM:617519
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Vocal cord paralysis, Abnormal lower motor neuron morphology OMIM:607641
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Nyctalopia, Pigmentary retinopathy, Reduced visual acuit... OMIM:609913
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal atrophy, Myopia, Aminoaciduria, Progressive night blin... ORPHA:414
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Chorea, Cerebral atrophy, Ataxia, Babinski sign, Axona... OMIM:604168
Metachromatic Leukodystrophy, Adult Form
Dystonia, Clumsiness, Orthostatic hypotension due to autonomic dysfunction, Punctate periventricu... ORPHA:309271
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
L-2-Hydroxyglutaric Aciduria
Corpus callosum atrophy, Gliosis, Abnormality of extrapyramidal motor function, Global brain atro... OMIM:236792
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Reduced visual acuity, Attenuation of retinal ... ORPHA:49382
Retinitis Pigmentosa 30
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Visual im... OMIM:607921
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Cerebral ... ORPHA:420492
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Leigh Syndrome
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Diffuse spongiform leukoencephal... ORPHA:506
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Oculomotor apraxia, Ataxia, Seizure, Hyperactivity, Microc... OMIM:612716
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the corpus callosum, Spastic tetraparesis, Cerebral atrophy, Seizure, Myoclonus, Op... OMIM:614261
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Blindness, Abnormal retinal vascular ... ORPHA:90050
Developmental And Epileptic Encephalopathy 72
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral atrophy, H... OMIM:618374
Stargardt Disease
Nyctalopia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial mottling, Retinal ... ORPHA:827
Leukodystrophy, Hypomyelinating, 4
Secondary microcephaly, Seizure, Babinski sign, Progressive spasticity, Choreoathetosis OMIM:612233
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Inability to walk, Difficulty walking, Megalencephaly, Seizure OMIM:611087
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Benign Familial Neonatal Epilepsy
Generalized tonic seizure, Focal-onset seizure, Status epilepticus, Simple febrile seizure, Focal... ORPHA:1949
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Blindness, Congenital stationary night blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Blindness, Congenital stationary night blindness OMIM:613830
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Microcephaly, Diffuse cerebral atrophy, Morning myoclonic jerks ORPHA:2898
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Gliosis, Paraparesis, Apathy, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuro... OMIM:105550
Macular Dystrophy, Vitelliform, 1
Vitelliform-like macular lesions, Reduced visual acuity, Visual field defect, Visual impairment, ... OMIM:153840
Congenital Stationary Night Blindness
Nyctalopia, Abnormality of retinal pigmentation, Congenital stationary night blindness with norma... ORPHA:215
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gliosis, Gait disturbance, Emotional lability, Seizure, Unsteady gait, Cessation of hea... OMIM:603896
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Slurred speech, Hepatomegaly, Seizure, Myoclonus,... OMIM:256550
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Reduced visual acuity, Central scotoma, Ataxia, Color vision defect, Myoclonic seizure, Photophob... OMIM:616732
Juvenile Sialidosis Type 2
Loss of ability to walk, Ataxia, Seizure, Lower limb spasticity, Hepatosplenomegaly, Myoclonus, D... ORPHA:93399
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Microcephaly, Optic atrophy ORPHA:2787
Butyrylcholinesterase Deficiency
Chronic infection, Abnormality of the liver, Paralysis ORPHA:132
Methanol Poisoning
Basal ganglia necrosis, Bilateral basal ganglia lesions, Abnormal caudate nucleus morphology, Abn... ORPHA:31825
Retinitis Pigmentosa 4
Nyctalopia, Pigmentary retinopathy, Visual field defect, Blindness, Rod-cone dystrophy OMIM:613731
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Metamorphopsia, Reduced visual acuity, Choroid... OMIM:608161
Continuous Spikes And Waves During Sleep
Clumsiness, Speech apraxia, Atonic seizure, Focal-onset seizure, Hyperkinetic movements, Myocloni... ORPHA:725
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations, Gait disturbance, Neuronal loss in central nervous system, Amyotrophic lateral sc... OMIM:608030
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyro... ORPHA:139402
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Micropenis, Visual impairment, Retinal dystrophy OMIM:610156
Spinocerebellar Ataxia 25
Reduced visual acuity, Ataxia, Urinary urgency, Cerebellar atrophy, Visual impairment, Babinski sign OMIM:608703
Retinitis Pigmentosa 33
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Visual impa... OMIM:610359
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Hemiparesis, Seizure, Encephalitis ORPHA:2481
Retinoschisis Of Fovea
Nyctalopia, Visual loss, Foveoschisis, Mildly reduced visual acuity, Hypermetropia, Rod-cone dyst... OMIM:268080
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Reduced visual acuity, Spastic ataxia, Poor coordination, Ankle clonus, Dysme... OMIM:270500
Microsporidiosis
Peritonitis, Visual loss, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper... ORPHA:2552
Cockayne Syndrome Type 3
Astrocytosis, Dense calcifications in the cerebellar dentate nucleus, Retinal atrophy, Cerebral w... ORPHA:90324
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Apathy, Basal ganglia calcification, Parkinsonism, Anxiety, Athetosis, Motor tics OMIM:615483
Developmental And Epileptic Encephalopathy 17
Generalized tonic seizure, Dystonia, Chorea, Hypoplasia of the corpus callosum, Cerebral atrophy,... OMIM:615473
Retinitis Pigmentosa 76
Nyctalopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Cystoid macular edema... OMIM:617123
Spinocerebellar Ataxia 47
Chorea, Ataxia, Seizure, Cerebellar vermis atrophy, Dysmetria, Spasticity OMIM:617931
Early-Onset Autosomal Dominant Alzheimer Disease
Apraxia, Neurofibrillary tangles, Abnormality of vision, Hypertonia, Oculomotor apraxia, Ataxia, ... ORPHA:1020
Retinitis Pigmentosa 19
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal pigment epitheli... OMIM:601718
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Incoordination, Lethargy, Gliosis, Head titubation, Seizure, Cer... OMIM:301790
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Hypoalbuminemia, Sinusitis... ORPHA:36234
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Focal-onset seizure, Abnormal cerebral white matter morphology, Hashimoto thyroidit... ORPHA:83601
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebellar vermis hypopl... ORPHA:2524
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Meningococcal Meningitis
Skin rash, Renal insufficiency, Papilledema, Seizure, Encephalitis, Photophobia ORPHA:33475
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Cerebral white matter atrophy, Difficulty walking, Chorea, Bilateral tonic-clonic... ORPHA:369840
Cone-Rod Dystrophy 2
Nyctalopia, Metamorphopsia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial at... OMIM:120970
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Focal-onset seizure, Anxiety, Paroxysmal choreoathetosis, Generalized-onset ... OMIM:602066
Infantile Krabbe Disease
Visual loss, Hypointensity of cerebral white matter on MRI, Abnormal periventricular white matter... ORPHA:206436
Choreoacanthocytosis
Hair-pulling, Hypertonia, Head titubation, Emotional lability, Head-banging, Cerebral cortical at... ORPHA:2388
Cone-Rod Dystrophy 12
Nyctalopia, Reduced visual acuity, Central scotoma, Cone/cone-rod dystrophy, Color vision defect,... OMIM:612657
Infantile Dystonia-Parkinsonism
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Limb hypertonia, Oculogyric ... ORPHA:238455
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Aggressive behavior, Parkinsonism with favorable response t... OMIM:606693
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Fasciculations, Tremor, Degeneration of anterior horn... ORPHA:65684
Myoclonus, Intractable, Neonatal
Chorea, Seizure, Progressive leukoencephalopathy, Cerebral visual impairment, Myoclonus, Microcep... OMIM:617235
Spinocerebellar Ataxia Type 25
Gait ataxia, Diffuse cerebellar atrophy, Reduced visual acuity, Progressive cerebellar ataxia, Ur... ORPHA:101111
Cataract 11, Multiple Types
Blindness, Chorea, Hypertonia OMIM:610623
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Cerebrotendinous Xanthomatosis
Dystonia, Gliosis, Global brain atrophy, Palatal myoclonus, Abnormality of extrapyramidal motor f... ORPHA:909