Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus, Seizure |
OMIM:217200 |
Infantile Spasms Syndrome |
|
Infantile spasms, Myoclonus |
ORPHA:3451 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia |
OMIM:208700 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor, Involuntary movements |
OMIM:611092 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure |
OMIM:615127 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Atonic seizure, Tremor |
OMIM:612437 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus... |
OMIM:162350 |
Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Hand tremor, Myoclonus |
ORPHA:86814 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Fo... |
OMIM:615400 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic... |
OMIM:616540 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor |
OMIM:616187 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Progressive Myoclonic Epilepsy Type 1 |
|
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
OMIM:618357 |
Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... |
OMIM:254770 |
Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Limb ataxia, Upper motor neuron ... |
ORPHA:95434 |
Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Seizure, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia |
OMIM:125370 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Epilepsy, Progressive Myoclonic, 11 |
|
Seizure, Rigidity, Myoclonus, Ataxia, Intention tremor |
OMIM:618876 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia |
ORPHA:2589 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Tremor |
OMIM:314250 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater... |
OMIM:613721 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal motor seizure, Myoclonus, Hand tremor, Bilateral tonic-clonic seizure, Focal hemifacial clo... |
OMIM:608105 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... |
OMIM:204300 |
Polymyoclonus, Infantile |
|
Myoclonus, Ataxia |
OMIM:263550 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Peripheral axonal neuropathy, Hypoplasia of the corpus callosum,... |
OMIM:600638 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Myoclonus, Generalize... |
OMIM:618587 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure |
OMIM:613608 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonic seizure, Chorea, Spasticity, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Infant... |
OMIM:616139 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Myoclonus, Seizure, Ataxia |
OMIM:600143 |
Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... |
OMIM:617391 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Seizure, Myoclonus, Generalized myoclonic seizure, Ataxia |
OMIM:545000 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, Myoclonus, Abnormality of extrapyramida... |
ORPHA:79262 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Atonic seizure... |
OMIM:616421 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Torticollis, Ataxia, Babins... |
OMIM:607317 |
Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
Developmental And Epileptic Encephalopathy 37 |
|
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Focal hemiclonic seizure, Bilateral ton... |
OMIM:616981 |
Developmental And Epileptic Encephalopathy 32 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo... |
OMIM:616366 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... |
ORPHA:1941 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Clumsiness, Myoclonus, Genera... |
ORPHA:2590 |
Hereditary Geniospasm |
|
Chin myoclonus, Intention tremor |
ORPHA:53372 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par... |
OMIM:605407 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Hyperkinetic movements |
OMIM:616921 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... |
OMIM:615362 |
Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Status ... |
ORPHA:307 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Neural tube defect |
OMIM:615041 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, ... |
OMIM:614018 |
Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Spinal myoclonus, Torticollis, Myoclonus |
ORPHA:36899 |
Combined Saposin Deficiency |
|
Generalized clonic seizure, Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations |
OMIM:611721 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Benign Familial Neonatal Epilepsy |
|
Limb myoclonus, Generalized tonic seizure, Focal-onset seizure, Focal clonic seizure, Status epil... |
ORPHA:1949 |
Dystonia 15, Myoclonic |
|
Myoclonus |
OMIM:607488 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Myoclonus, Seizure, Ataxia |
OMIM:204500 |
Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... |
OMIM:613855 |
Early Myoclonic Encephalopathy |
|
Focal seizure with eyelid myoclonia, Focal motor seizure, Myoclonus, Focal tonic seizure, General... |
ORPHA:1935 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor |
ORPHA:401901 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Agenesis of corpus callosum, Abnormality of the anterior co... |
OMIM:617542 |
Epilepsy, Progressive Myoclonic, 8 |
|
Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Bilateral tonic-clonic seizure, Action m... |
OMIM:616230 |
Phosphoserine Aminotransferase Deficiency |
|
Myoclonus, Seizure, Hypertonia |
OMIM:610992 |
Lennox-Gastaut Syndrome |
|
Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myoclonic seizure, Bilater... |
ORPHA:2382 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Tremor, Tetraparesis |
OMIM:615924 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Generalized non-motor (absence) seizure |
OMIM:254800 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Seizure, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babinski sign |
OMIM:606777 |
Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, Paraparesis,... |
ORPHA:726 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic seizure, Chorea, Focal-onset seizure, Myoclonus, Choreoathetosis, Status epilepticus wi... |
OMIM:619317 |
Hemimegalencephaly |
|
Epileptic spasm, Focal motor seizure, Seizure, Hemiparesis, Myoclonus, Focal tonic seizure, Statu... |
ORPHA:99802 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Ge... |
ORPHA:352596 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Poor hand-eye coordination, Genera... |
ORPHA:86909 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Myoclonus, Para... |
OMIM:612736 |
Developmental And Epileptic Encephalopathy 40 |
|
Spasticity, Seizure, Myoclonus, Choreoathetosis, Spastic tetraparesis |
OMIM:617065 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Developmental And Epileptic Encephalopathy 16 |
|
Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus |
OMIM:615338 |
Dystonia 11, Myoclonic |
|
Myoclonus, Tremor, Torticollis |
OMIM:159900 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Dysmetria |
OMIM:619191 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Seizure, Myoclonus, Choreoathetosis, Tremor, Hypertonia |
OMIM:261630 |
Developmental And Epileptic Encephalopathy 69 |
|
Hyperkinetic movements, Myoclonus, Status epilepticus, Spastic tetraplegia |
OMIM:618285 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Chorea, Spasticity, Extrapyramidal dyskinesia, Seizure, Hemiparesis, Apraxia, Myoclonus, Choreoat... |
ORPHA:71277 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements |
OMIM:618425 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Seizure, Myoclonus, Focal tonic seizure, Hypertonia, Limb tremor |
OMIM:300699 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Clumsiness, Focal awa... |
ORPHA:725 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Degeneration of anterior horn cells, Generalized myoclonic seizure, My... |
OMIM:159950 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Thin corpus callosum, Optic nerve hypoplasia, Pachygyria, Abnormality of the anterior commissure |
ORPHA:572013 |
Dystonia 23 |
|
Myoclonus, Head tremor, Torticollis |
OMIM:614860 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Myoclonus, Seizure, Ataxia |
OMIM:617829 |
Progressive Myoclonic Epilepsy Type 3 |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... |
ORPHA:263516 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb hypertonia, Fr... |
ORPHA:254343 |
Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Gait ataxia, Spasticity, Typical absence seizure, Myoclonus, Focal hemiclonic ... |
OMIM:620145 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Hydrocephalus, Dysgyria, Type II lissencephaly, Occipital encephalocele |
ORPHA:352682 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Lissencephaly, Agyria, Pachygyria |
OMIM:300067 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria |
ORPHA:101029 |
Pontocerebellar Hypoplasia Type 4 |
|
Myoclonus, Seizure, Hypertonia |
ORPHA:166063 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Seizure, Generalized myoclonic seizure, Choreoathetosis, Myoclonus, Ataxia, Bilateral tonic-cloni... |
OMIM:301020 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Erratic myoclonus, Seizure, Spastic tetraplegia, Myoclonus, Ataxia, Epileptic spasm |
OMIM:619971 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Chorea, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Frequent falls, Clonus... |
OMIM:500003 |
Dravet Syndrome |
|
Poor fine motor coordination, Generalized clonic seizure, Epilepsia partialis continua, Focal-ons... |
ORPHA:33069 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Agyria, Pachygyria |
ORPHA:1084 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Seizure, Myoclonus, Choreoathetosis, Tonic seizure, Bilateral tonic-clonic sei... |
OMIM:618497 |
Lissencephaly 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... |
OMIM:611603 |
Dystonia 6, Torsion |
|
Myoclonus, Torticollis |
OMIM:602629 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Seizure, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Limb tremor |
OMIM:256731 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria |
ORPHA:363710 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Periventricular nodular heterotopia |
OMIM:608097 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Optic atrophy |
ORPHA:1538 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:615938 |
Creutzfeldt-Jakob Disease |
|
Gait ataxia, Myoclonus, Hemiparesis, Extrapyramidal muscular rigidity |
OMIM:123400 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Polymicrogyria |
OMIM:604213 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Abnormal pyramidal sign, Generalized tonic seizure, Seizure, Myoclo... |
OMIM:612016 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity, Bilateral tonic-clonic seizure with ... |
OMIM:619028 |
Glycine Encephalopathy |
|
Myoclonus, Seizure, Agenesis of corpus callosum |
OMIM:605899 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia |
ORPHA:98763 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Spastic diplegia, Myoclonus, Ataxia, Babinski sign, Bilateral tonic-clonic seizure |
OMIM:619065 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Myoclonus, Seizure, Hypertonia |
OMIM:610090 |
Bilateral Generalized Polymicrogyria |
|
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Myoclonic seizure, Myoclonus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Hype... |
OMIM:617290 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Thyrocerebrorenal Syndrome |
|
Myoclonus, Slurred speech, Seizure, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:615937 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s... |
OMIM:610539 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus |
OMIM:609056 |
Developmental And Epileptic Encephalopathy 99 |
|
Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... |
OMIM:619606 |
Spinocerebellar Ataxia 19 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Progress... |
OMIM:607346 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor |
OMIM:619651 |
Congenital Disorder Of Glycosylation, Type In |
|
Spasticity, Myoclonus, Seizure, Ataxia |
OMIM:612015 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Myoclonus, Seizure, Hypertonia |
OMIM:225753 |
Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... |
ORPHA:139431 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Seizure, Myoclonus, Tremor, Progressive cerebellar ataxia |
ORPHA:139485 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Dysmetria, Myoclonus, Seizure |
OMIM:618251 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Myoclonic seizure, Chorea, Spasticity, Seizure, Myoclonus, Focal impaired awareness seizure, Hype... |
OMIM:614254 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Thyrocerebroretinal Syndrome |
|
Myoclonus, Slurred speech, Seizure, Ataxia |
OMIM:274240 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, Generalized-onset seizure, Spasticity, Seizure, Myoclonic s... |
ORPHA:79263 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Progressive spastic paraplegia, Spastic gait, Parkinsonism, Myoclonus, Ataxia, Lower limb spasticity |
ORPHA:306511 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Generalized myoclonic seizure... |
OMIM:614487 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
Developmental And Epileptic Encephalopathy 23 |
|
Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal impaired awarenes... |
OMIM:615859 |
Alexander Disease |
|
Spasticity, Seizure, Palatal tremor, Ataxia, Babinski sign, Dysmetria |
OMIM:203450 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus, Bilateral tonic-c... |
OMIM:204200 |
Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Seizure, Rigidity, Myoclonus, Ataxia, Progressive cerebellar ataxia, Bradyki... |
ORPHA:248111 |
Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Dy... |
OMIM:607136 |
Spinocerebellar Ataxia 50 |
|
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor |
OMIM:620158 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormality of thalamus morphology, Lateral ventricle dilatation, Primary microcephaly, Simplifie... |
ORPHA:300570 |
Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Parkinsonism, Limb apraxia, Myoclonus, Tremor, Involuntary moveme... |
ORPHA:454887 |
Hsd10 Disease |
|
Seizure, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Spastic paraparesis, Tremor |
ORPHA:391417 |
Developmental And Epileptic Encephalopathy 1 |
|
Erratic myoclonus, Abnormal pyramidal sign, Focal motor seizure, Focal-onset seizure, Generalized... |
OMIM:308350 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Spasticity, Myoclonus, Seizure, Ataxia |
OMIM:256730 |
Burning Mouth Syndrome |
|
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology |
ORPHA:353253 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Pontocerebellar Hypoplasia, Type 1E |
|
Myoclonus |
OMIM:619303 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus, Seizure |
OMIM:604218 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Myoclonus, Limb hypertonia, Resting tremor |
ORPHA:324588 |
Hyperekplexia 4 |
|
Myoclonus, Seizure, Hypertonia |
OMIM:618011 |
Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Spastic tetraplegia, Eyelid myoclonus, Ataxia, Tonic seizure, Bilateral tonic-... |
OMIM:619913 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... |
ORPHA:240103 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Myoclonus, Torticollis, Hand tremor, Vocal tremor |
ORPHA:420485 |
Developmental And Epileptic Encephalopathy 49 |
|
Spasticity, Myoclonus, Seizure |
OMIM:617281 |
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, Focal-o... |
ORPHA:289266 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Resting tremor, Limb hypertonia, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... |
OMIM:606703 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Seizure, Truncal ataxia, Myoclonus, Ataxia, Dysmetria, Head titubation, Agenesis of corpus callosum |
OMIM:250620 |
Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Exaggerated startle response, Myoclonus, Status epilepticus, Clonus |
OMIM:618201 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Dysdiadochokinesis, Spastic dysarthria, Oculomotor apraxia, Generalized myoclonic sei... |
ORPHA:313772 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Apraxia, Myoclonus, Seizure, Babinski sign |
OMIM:618193 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonic seizure, Gait ataxia, Focal-onset seizure, Myoclonus, Ataxia, Tremor, Hypertonia, Bilat... |
OMIM:619092 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:945 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia |
OMIM:615544 |
Peho-Like Syndrome |
|
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus |
OMIM:617507 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Seizure, Resting tremor, Rigidity, Myoclonus, Involuntary m... |
ORPHA:391411 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Chorea, Seizure, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Choreoathetos... |
ORPHA:13 |
Foxg1 Syndrome |
|
Spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, Status epilepticus, Bilateral tonic-... |
ORPHA:561854 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Schindler Disease, Type I |
|
Spasticity, Myoclonus, Seizure |
OMIM:609241 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Myoclonus, Seizure, Ataxia |
OMIM:620094 |
Familial Infantile Myoclonic Epilepsy |
|
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Generalized myoclonic se... |
ORPHA:352582 |
Band Heterotopia |
|
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria |
OMIM:600348 |
Congenital Hydrocephalus |
|
Ventriculomegaly, Abnormal cortical gyration, Optic atrophy, Hydrocephalus, Lissencephaly, Bulbou... |
ORPHA:2185 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... |
ORPHA:98810 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Chorea, Seizure, Myoclonus, Focal tonic seizure, Upper limb spasticity, Bilateral tonic-clonic se... |
ORPHA:485350 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Gait ataxia, Limb myoclonus, Postural tremor, Torticollis, Limb ataxia, Bradykinesia |
OMIM:619862 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Cogwheel... |
OMIM:619725 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... |
OMIM:604317 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Myoclonic seizure, Spasticity, Seizure, Myoclonus, Ataxia |
OMIM:618225 |
Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Myoclonus, Torticollis, Tremor |
OMIM:617284 |
Myoclonus, Intractable, Neonatal |
|
Chorea, Myoclonus, Athetosis, Clonic seizure |
OMIM:617235 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Babinski sign, Spastic tet... |
ORPHA:225154 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Hypoplastic anterior commissure, Lissencephaly, Microcephaly, Pachygyria, Hypoplasia of the corpu... |
OMIM:618325 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Growth delay |
OMIM:617244 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor |
OMIM:607876 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Seizure, Lateral ventricle dilatation, Apraxia, Myoclonus, Babinski sign, Abnormal up... |
OMIM:221770 |
Hyperekplexia 1 |
|
Exaggerated startle response, Seizure, Myoclonus, Frequent falls, Hypertonia, Nocturnal seizures |
OMIM:149400 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Hereditary Hyperekplexia |
|
Spasticity, Seizure, Rigidity, Myoclonus, Ataxia, Hypertonia, Fasciculations |
ORPHA:3197 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Simplified gyral pattern, Hydrocephalus, Optic atrophy |
OMIM:619470 |
Kufor-Rakeb Syndrome |
|
Spasticity, Seizure, Parkinsonism, Rigidity, Myoclonus, Torticollis, Paraparesis, Parkinsonism wi... |
OMIM:606693 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Seizure, Parkinsonism, Truncal ataxia, Rigidity, Myoclonu... |
OMIM:618877 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... |
ORPHA:397946 |
Alzheimer Disease 3 |
|
Seizure, Apraxia, Abnormality of extrapyramidal motor function, Myoclonus, Babinski sign, Spastic... |
OMIM:607822 |
Nipah Virus Disease |
|
Myoclonus, Tremor, Seizure |
ORPHA:99825 |
Early-Onset Lafora Body Disease |
|
Spastic tetraparesis, Myoclonus, Seizure, Ataxia |
ORPHA:324290 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Seizure, Lateral ventr... |
OMIM:619847 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... |
ORPHA:101150 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Limb hypertonia, Focal-onset seizure, Myoclonic spasms, Generalized myoclonic seizure, Rigidity, ... |
OMIM:614498 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Myoclonus, Athetosis, Seizure |
OMIM:618241 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Focal-onset seizure, Myoclonus, Tetraparesis, Infantile spasms |
OMIM:618972 |
Biemond Syndrome Type 2 |
|
Short stature, Hypogonadism, Hydrocephalus, Delayed puberty, Hypogonadotropic hypogonadism |
ORPHA:141333 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Spastic diplegia, Progressive spasticity, Spastic dysarthria, Myoclonus, Ataxia, Babinski sign, H... |
ORPHA:401866 |
Alexander Disease Type I |
|
Spasticity, Abnormal pyramidal sign, Seizure, Palatal tremor, Ataxia |
ORPHA:363717 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Seizure |
ORPHA:397933 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spasticity, Spastic ataxia, Seizure, Spastic tetraplegia, Myoclonus, Generalized myoclonic seizur... |
OMIM:616640 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Seizure, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Agenesis of corpus callosum |
OMIM:312170 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Status epilepticus, Poor mo... |
ORPHA:363400 |
Spinocerebellar Ataxia Type 36 |
|
Limb myoclonus, Truncal ataxia, Limb ataxia, Hand tremor, Ataxia, Babinski sign, Dysmetria, Head ... |
ORPHA:276198 |
Lissencephaly 5 |
|
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi... |
OMIM:615191 |
Spinocerebellar Ataxia Type 26 |
|
Seizure, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Babinski sign, Progress... |
ORPHA:101112 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Myoclonic seizure, Myoclonus, Hypertonia |
OMIM:618240 |
Spinocerebellar Ataxia 13 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Myoclonus, Limb ataxia, Limb dysmetria, Progres... |
OMIM:605259 |
Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Seizure, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetos... |
ORPHA:101 |
Subependymal Nodular Heterotopia |
|
Limb myoclonus, Seizure, Focal-onset seizure, Focal aware seizure, Partial agenesis of the corpus... |
ORPHA:101030 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Seizure, Dysdiadochokinesis, Myoclonus, Ataxia, Babinski sign, Dysmetria, Hypertonia, Intention t... |
OMIM:618356 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Myoclonus |
OMIM:619057 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, Seizure, Lateral ventricle dilatation, Clumsiness, Myoclonus, Paraparesis, Ataxia, Lo... |
OMIM:617854 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Ataxia-Telangiectasia-Like Disorder |
|
Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Ataxia, Dysmetria, Freque... |
ORPHA:251347 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Spasticity, Seizure, Truncal ataxia, Myoclonus, Ataxia, Babinski sign |
OMIM:252011 |
Dystonia 26, Myoclonic |
|
Myoclonus, Blepharospasm, Torticollis |
OMIM:616398 |
Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Narp Syndrome |
|
Seizure, Myoclonic spasms, Progressive gait ataxia, Ataxia, Babinski sign |
ORPHA:644 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Palatal tremor, Truncal ataxia, Spastic paraparesis |
OMIM:113610 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Chorea, Spasticity, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Involuntary... |
OMIM:617493 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized tonic seizure, Myoclonus, Atonic seizure, Focal impaired awareness seizure, Infantile... |
ORPHA:411986 |
Atypical Rett Syndrome |
|
Gait ataxia, Limb myoclonus, Spasticity, Seizure, Apraxia, Generalized myoclonic seizure, Tremor,... |
ORPHA:3095 |
Spinocerebellar Ataxia 2 |
|
Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomotor apraxia, Myoclonus, Rig... |
OMIM:183090 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Myoclonus, Seizure |
OMIM:300673 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks |
ORPHA:2898 |
Hyperekplexia 3 |
|
Bilateral tonic-clonic seizure, Myoclonus, Exaggerated startle response, Hypertonia |
OMIM:614618 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Resting tremor, Myoclonus, Parkinsonism with favorable response to dopamin... |
ORPHA:53351 |
Inherited Creutzfeldt-Jakob Disease |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Seizure, Spastic dysarthria, Clumsiness, Myoclonus,... |
ORPHA:282166 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Seizure, Lateral ventricle dilatation, Myoclonus, Spastic tetraparesis, Hypertonia, Epileptic spasm |
ORPHA:284417 |
Developmental And Epileptic Encephalopathy 101 |
|
Myoclonus, Seizure, Opisthotonus |
OMIM:619814 |
Developmental And Epileptic Encephalopathy 36 |
|
Anteverted nares, Hydrocephalus, Optic atrophy |
OMIM:300884 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Spasticity, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Myocl... |
ORPHA:79279 |
Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... |
ORPHA:99 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Chorea, Cerebral palsy, Myoclonus, Bilateral tonic-clonic seizure, Focal impai... |
OMIM:617600 |
Gaucher Disease, Type Iii |
|
Spastic paraparesis, Myoclonus, Generalized myoclonic seizure, Ataxia |
OMIM:231000 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Seizure, Limb hypertonia, Rigidity, Myoclonus, Status epilepticus, Ataxia, Tremor, In... |
ORPHA:442835 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Frontal ence... |
ORPHA:1528 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Abeta Amyloidosis, Iowa Type |
|
Myoclonus |
ORPHA:324708 |
Gómez-López-Hernández Syndrome |
|
Short stature, Hydrocephalus, Anteverted nares |
ORPHA:1532 |
Microcephaly, Amish Type |
|
Myoclonus, Partial agenesis of the corpus callosum, Limb hypertonia |
OMIM:607196 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Seizure, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, T... |
OMIM:618060 |
Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp... |
ORPHA:204 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizur... |
OMIM:271980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Dystonia 34, Myoclonic |
|
Myoclonus, Head tremor, Hand tremor, Torticollis |
OMIM:619724 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly, Short stature |
OMIM:303350 |
Pontocerebellar Hypoplasia, Type 2E |
|
Myoclonic seizure, Spasticity, Spastic tetraplegia, Myoclonus, Tonic seizure, Hypertonia, Infanti... |
OMIM:615851 |
Sandhoff Disease, Infantile Form |
|
Myoclonic seizure, Spasticity, Exaggerated startle response, Seizure, Myoclonus, Bilateral tonic-... |
ORPHA:309155 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Spastic... |
OMIM:612949 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Myoclonus, Babinski sign |
OMIM:600795 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Cortical myoclonus, Spasticity, Typical absence seizure, Seizure, Focal-onset ... |
ORPHA:168491 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Riboflavin Transporter Deficiency |
|
Myoclonus, Tremor, Seizure, Ataxia |
ORPHA:97229 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Pyridoxal Phosphate-Responsive Seizures |
|
Myoclonus, Status epilepticus, Seizure, Hypertonia |
ORPHA:79096 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Optic atrophy, Hydrocephalus, Short nose, Depressed nasal bridge, Anteverted na... |
ORPHA:1914 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Chorea, Spasticity, Blepharospasm, Rigidity, Clumsiness, Myoclonus, Ataxia, Babinski sign, Paroxy... |
OMIM:617282 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal nasal morphology, Depressed nasal bridge, Hydrocephalus, Polymicrogyria |
ORPHA:83473 |
D-Glyceric Aciduria |
|
Spasticity, Myoclonus, Seizure, Chorea |
ORPHA:941 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Seizure, Appendicular spasticity, Myoclonus, Epileptic spasm, Agenesis of corpus callosum |
OMIM:617669 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Seizure, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements |
OMIM:233910 |
Huntington Disease |
|
Poor fine motor coordination, Chorea, Seizure, Involuntary movements, Rigidity, Clumsiness, Myocl... |
ORPHA:399 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Spasticity, Seizure, Myoclonus, Partial agenesis of the corpus callosum, Vocal cord paralysis, Ep... |
ORPHA:500144 |
Posttransplant Acute Limbic Encephalitis |
|
Myoclonus, Seizure, Ataxia |
ORPHA:163921 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Seizure, Parkinsonism, Apraxia, Oculomotor apraxia, Myoclonus, Ataxia, Hypertonia |
ORPHA:1020 |
Lafora Disease |
|
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Spasticity, Seizure, Focal-on... |
ORPHA:501 |
Spinocerebellar Ataxia Type 13 |
|
Gait ataxia, Seizure, Titubation, Myoclonus, Clumsiness, Torticollis, Limb ataxia, Bradykinesia |
ORPHA:98768 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Apraxia, Limb ataxia,... |
OMIM:137440 |
D-Glyceric Aciduria |
|
Spasticity, Seizure, Spastic tetraplegia, Myoclonus, Focal clonic seizure, Status epilepticus, Bi... |
OMIM:220120 |
Diencephalic Syndrome |
|
Hydrocephalus, Optic atrophy |
ORPHA:1672 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Limb myoclonus |
ORPHA:356 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spastic tetraparesi... |
OMIM:605711 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Epileptic spasm, Myoclonus |
OMIM:619060 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure with focal onset, Focal sensory seizure with visual features, Apra... |
OMIM:254780 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Alexander Disease Type Ii |
|
Spasticity, Palatal tremor, Rigidity, Ataxia, Babinski sign, Spastic paraparesis |
ORPHA:363722 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Dysmetria, Myoclonus, Abnormal pyramidal sign, Involuntary movements |
OMIM:619780 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Optic atrophy, Hydrocephalus, Type II lissencephaly, Intrauterine growth retard... |
ORPHA:272 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Gait ataxia, Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor, Hypertonia, Intention tremor |
OMIM:616505 |
Hyperekplexia 2 |
|
Myoclonus, Exaggerated startle response, Hypertonia |
OMIM:614619 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Azoospermia, Hypergonadotropic hypogonadism, Short stature |
ORPHA:2183 |
Pettigrew Syndrome |
|
Hydrocephalus, Prominent nose, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus |
OMIM:304100 |
Aicardi-Goutieres Syndrome 4 |
|
Convex nasal ridge, Ventriculomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Intrauterine g... |
OMIM:610333 |
Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements, Infantile spasms |
OMIM:618374 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Spasticity, Seizure, Lateral ventricle dilatation, Myoclonus, Hypertonia |
ORPHA:3078 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Myoclonus, Seizure |
OMIM:616158 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Progressive spastic paraplegia, Seizure, Myoclonus, Babinski sign, Scissor gait, Lower limb spast... |
ORPHA:466722 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Underdeveloped nasal alae, Short stature, Hydrocephalus, Wide nasal bridge |
ORPHA:1516 |
Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Lissencephaly, Pachygyria, Polymicrogyria |
ORPHA:300573 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Ventriculomegaly, Optic atrophy, Simplified gyral pattern, Communicating... |
OMIM:615219 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Pachygy... |
OMIM:616212 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure, Tetraparesis, Opisthotonus |
OMIM:616672 |
Pontocerebellar Hypoplasia, Type 15 |
|
Simplified gyral pattern, Hydrocephalus |
OMIM:619302 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Seizure, Parkinsonism, Myoclonic spasms, Clumsiness, Poor motor coo... |
ORPHA:79264 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Seizure, Myoclonus, Generalized myoclonic seizure, Multifocal seizures... |
OMIM:300672 |
Optic Pathway Glioma |
|
Growth delay, Papilledema, Hydrocephalus, Optic atrophy |
ORPHA:2086 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Spasticity, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia |
OMIM:614299 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Generalized-onset seizure, Focal-onset seizure, Myoclonus, Paralysis, Status epilepticus |
ORPHA:83601 |
3-Methylglutaconic Aciduria Type 7 |
|
Spasticity, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Myocl... |
ORPHA:445038 |
Pontocerebellar Hypoplasia, Type 7 |
|
Spasticity, Seizure, Oculomotor apraxia, Myoclonus, Choreoathetosis, Ataxia, Spastic paraplegia, ... |
OMIM:614969 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration |
ORPHA:65 |
Cog8-Cdg |
|
Myoclonus, Seizure, Ataxia |
ORPHA:95428 |
Juvenile Sialidosis Type 2 |
|
Spasticity, Seizure, Myoclonus, Generalized myoclonic seizure, Ataxia, Dysmetria, Lower limb spas... |
ORPHA:93399 |
Bresek Syndrome |
|
Convex nasal ridge, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Growth delay, N... |
ORPHA:85284 |
Peho Syndrome |
|
Myoclonus, Seizure |
OMIM:260565 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
Neuraminidase Deficiency |
|
Dysmetria, Myoclonus, Slurred speech, Seizure |
OMIM:256550 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Papilledema, Hydrocephalus |
OMIM:260500 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Type II lissencephaly, Hydrocephalus, Optic nerve hypoplasia, Polymicrogyria |
OMIM:615181 |
Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Myoclonus, Seizure, Spastic tetraplegia |
OMIM:614462 |
Sialidosis Type 1 |
|
Seizure, Myoclonus, Ataxia, Slurred speech, Tremor |
ORPHA:812 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short stature, Hydrocephalus, Short nose, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Depressed nasal bridge, Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:602501 |
Adenylosuccinase Deficiency |
|
Gait ataxia, Spasticity, Seizure, Myoclonus, Hemiplegia, Opisthotonus |
OMIM:103050 |
Parkinsonian-Pyramidal Syndrome |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Myoclonus, Babinski sign, Intention ... |
ORPHA:171695 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Seizure, Rigidity, Eyelid apraxia, Myoclonus, Clumsiness, Parkinsonism with favorable... |
ORPHA:199351 |
Unilateral Polymicrogyria |
|
Poor fine motor coordination, Generalized tonic seizure, Seizure, Spastic tetraplegia, Focal-onse... |
ORPHA:268943 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Simplified gyral pattern, Agyria, Hydrocephalus, Lissencephaly, Type II lissenc... |
OMIM:613153 |
Microcephaly-Capillary Malformation Syndrome |
|
Spastic tetraparesis, Myoclonus, Seizure |
OMIM:614261 |
Mepan Syndrome |
|
Spasticity, Myoclonus, Ataxia, Chorea |
ORPHA:508093 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Abnormality of infra-orbital nerve, Abnormal fifth cranial... |
ORPHA:449563 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Kohlschutter-Tonz Syndrome-Like |
|
Generalized clonic seizure, Generalized tonic seizure, Spasticity, Seizure, Lateral ventricle dil... |
OMIM:619229 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Wide nasal bridge, Hydrocephalus, Short nose, Anteverted nares |
OMIM:618577 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Myoclonus, Head tremor, Torticollis, Limb tremor |
ORPHA:420492 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Choanal atresia |
OMIM:612247 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Abnormality of neuronal migration, Short stature, Ventriculomegaly, Hydrocephalus,... |
ORPHA:93274 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Myoclonus, Neonatal death, Seizure, Ataxia |
OMIM:619167 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Eyelid myoclonus, Ataxia, Absence seizure with eyelid myoclonia, Generalized non-motor (absence) ... |
OMIM:613839 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide nasal base, Hydrocephalus, Wide nasal bridge |
OMIM:616521 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Polyminimyoclonus, Tremor, Vocal cord paresis, Fasciculations |
OMIM:619574 |
Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... |
OMIM:612953 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Hyperkinetic movements, Spasticity, Athetosis, Seizure |
OMIM:612073 |
Caribbean Parkinsonism |
|
Parkinsonism, Rigidity, Apraxia, Myoclonus, Progressive gait ataxia, Action tremor, Weakness due ... |
ORPHA:97355 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly, Optic atrophy |
OMIM:616975 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Wide nasal bridge |
OMIM:618302 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Wide nasal bridge, Hydrocephalus, Depressed nasal bridge, Dandy-Walker ... |
OMIM:220220 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus, Short nose, Anteverted nares, Choanal atresia |
ORPHA:1895 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Myoclonus, Seizure |
OMIM:246450 |
Baker-Gordon Syndrome |
|
Choreoathetosis, Ataxia, Involuntary movements, Hyperkinetic movements, Athetoid cerebral palsy |
OMIM:618218 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Increased CSF protein concentr... |
OMIM:245200 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Seizure, Myoclonus, Status epilepticus, Ataxia, Right hemiplegia, Tremor |
OMIM:607426 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Depressed nasal ridge, Short stature, Hydrocephalus, Short nose, Intrauterine growth ... |
OMIM:300863 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus |
ORPHA:168593 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Spasticity, Seizure, Myoclonus, Status epilepticus, Babinski sign, Bilateral tonic-clonic seizure |
ORPHA:364028 |
3-Methylglutaconic Aciduria, Type Viib |
|
Spasticity, Seizure, Myoclonus, Choreoathetosis, Ataxia, Tremor, Hyperkinetic movements, Opisthot... |
OMIM:616271 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Seizure, Myoclonus, Focal tonic seizure, Epileptic spasm, Speech apraxia, Bilateral tonic-clonic ... |
ORPHA:314655 |
Adams-Oliver Syndrome 2 |
|
Optic atrophy, Lateral ventricle dilatation, Hydrocephalus, Depressed nasal bridge, Bulbous nose,... |
OMIM:614219 |
Tay-Sachs Disease |
|
Poor fine motor coordination, Exaggerated startle response, Ankle clonus, Typical absence seizure... |
ORPHA:845 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Hemangioblastoma |
|
Hydrocephalus, Neurogenic bladder |
ORPHA:252054 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Tongue fasciculations, Myoclonus, Seizure |
OMIM:614922 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Myoclonic seizure, Spasticity, Seizure, Limb hypertonia, Oculomotor apraxia, Myoclonus, Ataxia, B... |
OMIM:618076 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb hypertonia, Myoclonus, Choreoathetosis, Tortico... |
OMIM:608643 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus, Optic atrophy |
ORPHA:588 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Disproportionate short-limb short statu... |
ORPHA:2655 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Convex nasal ridge, Hydrocephalus, Optic atrophy, Choanal atresia |
ORPHA:93262 |
Infantile Krabbe Disease |
|
Spasticity, Ankle clonus, Seizure, Spastic diplegia, Myoclonus, Generalized myoclonic seizure, Lo... |
ORPHA:206436 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hyperkinetic movements, Seizure, Hypertonia |
OMIM:236270 |
Central Precocious Puberty |
|
Proportionate short stature, Hydrocephalus |
ORPHA:759 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Myoclonic spasms, Rigidity, Frequent falls, Opisthotonus |
OMIM:184850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus, Facial palsy |
OMIM:613155 |
Galloway-Mowat Syndrome 10 |
|
Myoclonus |
OMIM:619609 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Optic atrophy, Short stature, Ventriculomegaly, Hydrocephalus, Short... |
OMIM:619833 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:616171 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Hydrocephalus, Short nose, Thick nasal alae, Dandy-Walker malformation |
ORPHA:163961 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly |
ORPHA:858 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hoffmann sign, Limb myoclonus, Ankle clonus, Seizure, Hemiparesis, Oculomotor apraxia, Apraxia, A... |
ORPHA:139396 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Seizure, Spastic tetraplegia, Myoclonus, Status epilepticus, Clonus, Neonatal death |
OMIM:619055 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Japanese Encephalitis |
|
Focal motor seizure, Respiratory paralysis, Opisthotonus, Paucity of anterior horn motor neurons,... |
ORPHA:79139 |
Serotonin Syndrome |
|
Seizure, Rigidity, Myoclonus, Tremor, Hypertonia, Clonus |
ORPHA:43116 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Short stature, Hydrocephalus, Anteverted nares, Short nose |
ORPHA:2701 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy |
OMIM:207950 |
L1 Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:614120 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Seizure, Truncal ataxia, Hyperkinetic movements |
ORPHA:369847 |
Temple Syndrome |
|
Short stature, Hydrocephalus, Postnatal growth retardation |
ORPHA:254516 |
Temple Syndrome |
|
Wide nose, Short stature, Hydrocephalus, Depressed nasal bridge, Anteverted nares, Intrauterine g... |
OMIM:616222 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Optic atrophy |
ORPHA:99947 |
Pallister-Hall-Like Syndrome |
|
Short stature, Hydrocephalus, Short nose, Depressed nasal bridge, Occipital encephalocele |
OMIM:241800 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Prominent nose, Wide nasal bridge, Hydrocephalus, Depressed nasal bridge, Anteverted nares, Bulbo... |
ORPHA:2180 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Gait ataxia, Generalized-onset seizure, Postural tremor, Myoclonus, Action tremor, Intention tremor |
OMIM:254900 |
Early Infantile Epileptic Encephalopathy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:1934 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Prominent nasal bridge, Anteverted nares |
OMIM:613776 |
Developmental And Epileptic Encephalopathy 100 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Ch... |
OMIM:619777 |
Metatropic Dysplasia |
|
Severe short stature, Depressed nasal bridge, Hydrocephalus |
ORPHA:2635 |
Neuroferritinopathy |
|
Chorea, Blepharospasm, Resting tremor, Parkinsonism, Palatal tremor, Babinski sign, Involuntary m... |
ORPHA:157846 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Hydrocephalus, Ventriculomegaly, Short stature |
OMIM:109120 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Tremor, Cogwheel rigidity, Hypertonia, H... |
OMIM:613135 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Gray matter heterotopia, Ventriculomegaly, Optic atrophy, Hydrocephalus... |
ORPHA:370959 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Myoclonus, Bradykinesia |
OMIM:168601 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Wide nasal bridge |
ORPHA:380 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Chorea, Seizure, Spastic tetraplegia, Myoclonus, Ataxia, Infantile spasms |
OMIM:618321 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly |
ORPHA:89844 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Spinal dysraphism, Encephalocele, Wide nasal bridge, Short stature, Anencephaly, Hyd... |
ORPHA:1908 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Short nose, Depressed nasal bridge, Short columella, Anteverted nares |
ORPHA:171839 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized ton... |
OMIM:616973 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Depressed nasal ridge, Short stature, Hydrocephalus, Short nose, Intrauterine growth ... |
ORPHA:163966 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Myoclonus, Ataxia |
OMIM:560000 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Myoclonic seizure, Myoclonus, Seizure |
OMIM:614946 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Seizure, Upper limb spasticity, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements |
ORPHA:457240 |
Crouzon Syndrome |
|
Convex nasal ridge, Hydrocephalus, Optic atrophy, Choanal atresia |
ORPHA:207 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Optic atrophy, Hydrocephalus, Depressed nasal bridge, Polymicrogyria |
ORPHA:60040 |
Albers-Schönberg Osteopetrosis |
|
Short stature, Hydrocephalus, Optic atrophy, Facial palsy |
ORPHA:53 |
Fatal Familial Insomnia |
|
Myoclonus, Ataxia |
OMIM:600072 |
3C Syndrome |
|
Abnormality of neuronal migration, Wide nasal bridge, Optic atrophy, Short stature, Ventriculomeg... |
ORPHA:7 |
Glutathionuria |
|
Gray matter heterotopia |
OMIM:231950 |
Congenital Sialidosis Type 2 |
|
Spasticity, Seizure, Myoclonus, Ataxia, Dysmetria |
ORPHA:93400 |
Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Dystonia-Aphonia Syndrome |
|
Myoclonus, Seizure |
ORPHA:412217 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Seizure, Spastic tetraplegia, Myoclonic spasms, Bilateral tonic-clonic seizure, Hypertonia, Opist... |
OMIM:252160 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Hypogonadism |
OMIM:601794 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Myoclonus, Tremor, Seizure, Ataxia |
ORPHA:98794 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Gait ataxia, Myoclonus, Seizure |
ORPHA:70595 |
Orofaciodigital Syndrome Type 3 |
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Spasticity, Oculomotor apraxia, Myoclonus, Focal seizure with eyelid myoclonia |
ORPHA:2752 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
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Communicating hydrocephalus, Depressed nasal ridge, Short stature |
ORPHA:1861 |
Angelman Syndrome |
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Seizure, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Ataxia, Atonic seizure, Tr... |
ORPHA:72 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Agyria, Hydrocephalus, Lissencep... |
OMIM:614643 |
Multiple Sulfatase Deficiency |
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Abnormality of peripheral nerve conduction, Optic atrophy, Short stature, Hydrocephalus, Depresse... |
ORPHA:585 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Ventriculomegaly, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker m... |
OMIM:225790 |
Oculocerebrocutaneous Syndrome |
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Gray matter heterotopia, Orbital encephalocele |
OMIM:164180 |
Intellectual Developmental Disorder, X-Linked 12 |
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Hyperkinetic movements, Spasticity, Tremor, Seizure |
OMIM:300957 |
Infantile Sialic Acid Storage Disease |
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Hydrocephalus, Anteverted nares |
OMIM:269920 |
Walker-Warburg Syndrome |
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Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... |
ORPHA:899 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Dilated third ventricle, Ventriculomegaly, Optic atrophy, Lateral ventricle dilatation, Hydroceph... |
OMIM:613154 |
Microtriplication 11Q24.1 |
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Hyperkinetic movements, Seizure, Speech apraxia |
ORPHA:289522 |
Greig Cephalopolysyndactyly Syndrome |
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Hydrocephalus, Ventriculomegaly, Wide nasal bridge |
OMIM:175700 |
Desmosterolosis |
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Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomegaly, Macrogyria, Hydr... |
ORPHA:35107 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog... |
ORPHA:2211 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements |
OMIM:619738 |
Congenital Disorder Of Glycosylation, Type Iil |
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Ventriculomegaly, Optic atrophy, Abnormal cortical gyration, Hydrocephalus, Growth delay, Intraut... |
OMIM:614576 |
Brain-Lung-Thyroid Syndrome |
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Chorea, Apraxia, Clumsiness, Myoclonus, Choreoathetosis, Incoordination, Ataxia, Involuntary move... |
ORPHA:209905 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Hydrocephalus |
OMIM:300886 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
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Gait ataxia, Spasticity, Seizure, Ataxia, Babinski sign, Hyperkinetic movements |
OMIM:620089 |
Williams-Beuren Region Duplication Syndrome |
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Hydrocephalus, Broad nasal tip, Ventriculomegaly, Short stature |
OMIM:609757 |
6P22 Microdeletion Syndrome |
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Hydrocephalus |
ORPHA:251046 |
Joubert Syndrome |
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Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Anteverte... |
ORPHA:475 |
Gorlin Syndrome |
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Hypogonadotropic hypogonadism, Abnormality of the sense of smell, Hydrocephalus, Wide nasal bridge |
ORPHA:377 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Irregular menstruation, Optic atrophy, Hypogonadism, Short stature, Hydrocephalus, Mild postnatal... |
OMIM:101800 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Myoclonic spasms, Poor coordination, Bilateral tonic-clonic seizure |
ORPHA:478029 |
Osteopetrosis, Autosomal Recessive 2 |
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Cranial nerve compression, Optic atrophy, Hydrocephalus, Chronic rhinitis due to narrow nasal air... |
OMIM:259710 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
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Holoprosencephaly, Hydrocephalus, Aqueductal stenosis |
ORPHA:2182 |
Joubert Syndrome With Oculorenal Defect |
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Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Anteverte... |
ORPHA:2318 |
Tetrasomy 18P |
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Abnormality of neuronal migration |
ORPHA:3307 |
Central Neurocytoma |
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Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Abnormality of neuronal migration |
ORPHA:2772 |
Joubert Syndrome 14 |
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Meningocele, Encephalocele, Optic atrophy, Hydrocephalus, Growth delay, Prominent nasal bridge, D... |
OMIM:614424 |
Orofaciodigital Syndrome Iii |
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Myoclonus |
OMIM:258850 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Spasticity, Seizure, Postural tremor, Truncal ataxia, Myoclonus, Status epilepticus, Ataxia, Babi... |
OMIM:301072 |
Vacterl Association With Hydrocephalus |
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Hydrocephalus, Aqueductal stenosis, Stillbirth |
OMIM:276950 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
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Hydrocephalus |
OMIM:615599 |
Hyperphosphatasia-Intellectual Disability Syndrome |
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Seizure, Oculomotor apraxia, Myoclonus, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:247262 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
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