Epilepsy, Familial Adult Myoclonic, 7 |
|
Myoclonic tremor, Seizure |
OMIM:618075 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus, Seizure |
OMIM:217200 |
Infantile Spasms Syndrome |
|
Myoclonus, Infantile spasms |
ORPHA:3451 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Ataxia, Generalized myoclonic seizure, Seizure |
OMIM:208700 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Seizure |
OMIM:611092 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia, Seizure |
OMIM:616366 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Seizure |
OMIM:615127 |
Microcephaly 7, Primary, Autosomal Recessive |
|
Simplified gyral pattern |
OMIM:612703 |
Microcephaly 12, Primary, Autosomal Recessive |
|
Simplified gyral pattern |
OMIM:616080 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia, Seizure |
OMIM:616187 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Myoclonus, Myoclonic seizure, Parkinsonism, Bilateral tonic-clonic seizure, Seizure, Abno... |
OMIM:162350 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Pachygyria, Lissencephaly |
OMIM:614499 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Generalized-onset seizure, Hand tremor, Focal-onset seizure |
ORPHA:86814 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... |
OMIM:618357 |
Myoclonus, Familial, 1 |
|
Frequent falls, Myoclonus, Ataxia |
OMIM:614937 |
Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Ataxia, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Seizure |
OMIM:618876 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... |
OMIM:254770 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure |
OMIM:125370 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, A... |
ORPHA:95434 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Myoclonus, Tremor, Focal-onset seizure, Seizure |
OMIM:608105 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Epilepsy, Progressive Myoclonic, 9 |
|
Status epilepticus, Myoclonus, Gait ataxia, Seizure |
OMIM:616540 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Myoclonus, Ataxia, Seizure |
OMIM:600143 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia |
ORPHA:2589 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Myoclonus, Chorea, Parkinsonism with favorable response to dopaminergic medication |
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 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Polymyoclonus, Infantile |
|
Myoclonus, Ataxia |
OMIM:263550 |
Benign Familial Infantile Epilepsy |
|
Status epilepticus, Focal motor seizure, Hypertonia, Focal impaired awareness seizure, Generalize... |
ORPHA:306 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, C... |
ORPHA:2590 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... |
OMIM:618587 |
Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Generalized myoclonic seizure, Myoclonus, Spasticity, Seizure |
OMIM:545000 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Seizure, Abnormality of extrapyramidal motor function |
OMIM:615362 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Status epilepticus withou... |
OMIM:204300 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... |
OMIM:604317 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Chorea, Bilateral tonic-clonic s... |
OMIM:616139 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... |
ORPHA:79262 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... |
OMIM:607682 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Cogwheel rigidity,... |
OMIM:616981 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia |
OMIM:600348 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized myoclonic seizure, Myoclonus, Degeneration of anterior horn cells, Fasciculations, Fr... |
OMIM:159950 |
Perioral Myoclonia With Absences |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:139426 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Juvenile Absence Epilepsy |
|
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... |
ORPHA:1941 |
Myoclonus-Dystonia Syndrome |
|
Spinal myoclonus, Myoclonus, Torticollis, Limb myoclonus |
ORPHA:36899 |
Hereditary Geniospasm |
|
Chin myoclonus |
ORPHA:53372 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Juvenile Myoclonic Epilepsy |
|
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... |
ORPHA:307 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus, Clonus, Seizure |
OMIM:617290 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Seizure |
OMIM:616921 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Myoclonus, Ataxia, Seizure |
OMIM:204500 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Atonic seizure, Myoclonus, Myoclonic status epilepticus, Tremor, Bilateral tonic-clonic s... |
OMIM:614018 |
Benign Familial Neonatal Epilepsy |
|
Status epilepticus, Generalized tonic seizure, Focal clonic seizure, Limb myoclonus, Simple febri... |
ORPHA:1949 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Dystonia 15, Myoclonic |
|
Myoclonus |
OMIM:607488 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus |
OMIM:619647 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations |
OMIM:607317 |
Early Myoclonic Encephalopathy |
|
Focal motor seizure, Generalized myoclonic seizure, Myoclonus, Infantile spasms, Focal seizure wi... |
ORPHA:1935 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Abnormality of the anterior commissure, Agenesis of corpus ... |
OMIM:617542 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus, Seizure |
OMIM:610992 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Bilateral tonic-clonic seizure, Choreoa... |
OMIM:616230 |
Combined Saposin Deficiency |
|
Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations, Generalized clonic seizure |
OMIM:611721 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Atypical absence seizure, Ataxia, Myoclonus, Truncal ataxia, Febrile sei... |
OMIM:613855 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction |
ORPHA:401901 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizure |
OMIM:615924 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Seizure |
OMIM:606777 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure |
OMIM:612016 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... |
OMIM:612736 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
ORPHA:2382 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 ... |
ORPHA:86909 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure |
OMIM:618425 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Focal hemiclonic seizure, Tonic seizure, Myoclonus, Myoclonic seizure, ... |
OMIM:619317 |
Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... |
ORPHA:1083 |
Hemimegalencephaly |
|
Status epilepticus, Focal motor seizure, Atonic seizure, Myoclonus, Epileptic spasm, Hemiparesis,... |
ORPHA:99802 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia |
OMIM:254800 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:615938 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus |
OMIM:159900 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonus, Choreoathetosis, Hyperkinetic movements, Seizure |
OMIM:618497 |
Developmental And Epileptic Encephalopathy 69 |
|
Status epilepticus, Myoclonus, Hyperkinetic movements, Spastic tetraplegia |
OMIM:618285 |
Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Bilateral tonic-clon... |
ORPHA:726 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Status epilepticus, Hemiplegia, Generalized myoclonic seizure, Myoclonus, Abnormal pyramidal sign... |
ORPHA:352596 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Myoclonus, Babinski sign, Motor tics, Chorea, Frequent falls, Clonus, Poor motor coordination, In... |
OMIM:500003 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Status epilepticus, Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea... |
ORPHA:71277 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Dysmetria, Myoclonus, Dysdiadochokinesis, Seizure |
OMIM:256731 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
Developmental And Epileptic Encephalopathy 92 |
|
Myoclonus, Ataxia, Spasticity, Seizure |
OMIM:617829 |
Developmental And Epileptic Encephalopathy 16 |
|
Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis |
OMIM:615338 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Seizure |
OMIM:261630 |
Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Bilateral tonic-clonic seizure, Dysmetria, Ataxia |
OMIM:619191 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Myoclonus, Seizure, Limb tremor, Focal tonic seizure |
OMIM:300699 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... |
ORPHA:725 |
Developmental And Epileptic Encephalopathy 40 |
|
Myoclonus, Choreoathetosis, Spasticity, Seizure, Spastic tetraparesis |
OMIM:617065 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele |
ORPHA:352682 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive cerebellar ataxia, Myoclonus, Limb myoclonus, Febrile seizure (within the age range o... |
ORPHA:263516 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Erratic myoclonus, Ataxia, Myoclonus, Epileptic spasm, Spastic tetraplegia, Seizure |
OMIM:619971 |
Dystonia 23 |
|
Torticollis, Myoclonus, Head tremor |
OMIM:614860 |
Lissencephaly, X-Linked, 1 |
|
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly |
OMIM:300067 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria |
ORPHA:101029 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus, Seizure |
ORPHA:166063 |
Dravet Syndrome |
|
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... |
ORPHA:33069 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Involuntary movements, Spasticity |
OMIM:617282 |
Lissencephaly 3 |
|
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria |
OMIM:611603 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Myoclonus, Agenesis of corpus callosum, Spasticity, Seizure |
OMIM:617669 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
Glycine Encephalopathy |
|
Myoclonus, Agenesis of corpus callosum, Seizure |
OMIM:605899 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Dystonia 6, Torsion |
|
Torticollis, Myoclonus |
OMIM:602629 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Pro... |
ORPHA:254343 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity |
ORPHA:363710 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Myoclonus, Hyperkinetic movements, Chorea, Spasticity, Seizure |
OMIM:614254 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria |
OMIM:604213 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure |
OMIM:619065 |
Creutzfeldt-Jakob Disease |
|
Myoclonus, Gait ataxia, Hemiparesis, Extrapyramidal muscular rigidity |
OMIM:123400 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Dysmetria, Myoclonus, Tremor, Lowe... |
OMIM:619028 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia |
ORPHA:98763 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Myoclonus, Seizure |
OMIM:610090 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Cortical Malformations, Occipital |
|
Pachygyria, Polymicrogyria |
OMIM:614115 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Status epilepticus, Clonic seizure, Intention tremor, Myoclonus, Bilateral tonic-clonic seizure w... |
OMIM:610539 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Thyrocerebrorenal Syndrome |
|
Myoclonus, Nonprogressive cerebellar ataxia, Slurred speech, Seizure |
ORPHA:3327 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Dysmetria, Myoclonus, Seizure, Agenesis of corpus callosum |
OMIM:250620 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:615937 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Congenital Disorder Of Glycosylation, Type In |
|
Myoclonus, Ataxia, Spasticity, Seizure |
OMIM:612015 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus |
OMIM:619651 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypertonia, Myoclonus, Spasticity, Seizure |
OMIM:225753 |
Developmental And Epileptic Encephalopathy 99 |
|
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... |
OMIM:619606 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Generalized-onset seizure, Postural tremor |
OMIM:254900 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Salt And Pepper Developmental Regression Syndrome |
|
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Choreoathetosis |
OMIM:609056 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Myoclonus, Dysmetria, Seizure |
OMIM:618251 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Generalized myoclonic seiz... |
ORPHA:139431 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure |
ORPHA:139485 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus |
OMIM:618709 |
Bilateral Generalized Polymicrogyria |
|
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... |
ORPHA:208447 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... |
ORPHA:178469 |
Foxg1 Syndrome |
|
Status epilepticus, Motor stereotypy, Myoclonus, Infantile spasms, Hyperkinetic movements, Stereo... |
ORPHA:561854 |
Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Generalized myoclonic seizure, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadochokine... |
OMIM:614487 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Myoclonus, Intractable, Neonatal |
|
Athetosis, Myoclonus, Chorea, Seizure |
OMIM:617235 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... |
ORPHA:79263 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Thyrocerebroretinal Syndrome |
|
Myoclonus, Ataxia, Slurred speech, Seizure |
OMIM:274240 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Myoclonus, Parkinsonism, Bilateral tonic-clonic seizure, Seizure, Abnormality of extrapyramidal m... |
OMIM:204200 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Myoclonus, Ataxia, Spasticity, Seizure |
OMIM:256730 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Generalized tonic seizure, Myoclonus, Epileptic spasm, Stereotypical hand wringing, F... |
ORPHA:289266 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Ataxia, Myoclonus, Parkinsonism, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity |
ORPHA:306511 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Myoclonus, Ataxia, Seizure |
OMIM:618225 |
Juvenile Huntington Disease |
|
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chorea, Gait ataxia, Se... |
ORPHA:248111 |
Peho-Like Syndrome |
|
Status epilepticus, Myoclonus, Seizure |
OMIM:617507 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Tremor, Choreoathetosis, Seizure |
ORPHA:391417 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal basal ganglia morphology, Small basal ganglia, Abnormal autonomic nervous system physiol... |
ORPHA:300570 |
Spinocerebellar Ataxia 17 |
|
Ataxia, Bradykinesia, Limb ataxia, Dysmetria, Intention tremor, Myoclonus, Parkinsonism, Rigidity... |
OMIM:607136 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... |
OMIM:619725 |
Hyperekplexia 4 |
|
Hypertonia, Myoclonus, Seizure |
OMIM:618011 |
Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure... |
OMIM:619913 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypertonia, Generalized myoclonic seizure, Babinski sign, Rigidity, Myoclonic spasms, Clonus, Sei... |
OMIM:614498 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Rigidity, Hyperkinetic movements, Chor... |
ORPHA:13 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Myoc... |
OMIM:619092 |
Developmental And Epileptic Encephalopathy 49 |
|
Myoclonus, Spasticity, Seizure |
OMIM:617281 |
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 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Myoclonus, Abnormality of extrapyramidal motor function, Seizure |
OMIM:604218 |
Pontocerebellar Hypoplasia, Type 1E |
|
Myoclonus |
OMIM:619303 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... |
ORPHA:454887 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Dysdiadochokinesis, Se... |
OMIM:618356 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypertonia, Ataxia, Myoclonus, Spasticity, Seizure |
OMIM:618426 |
Developmental And Epileptic Encephalopathy 1 |
|
Focal motor seizure, Erratic myoclonus, Hypertonia, Tonic seizure, Generalized myoclonic seizure,... |
OMIM:308350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Optic atrophy, Type II lissencephaly, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
Acalvaria |
|
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Blepharospasm, Hand tremor, Myoclonus, Upper limb postural tremor |
ORPHA:420485 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Apraxia, Myoclonus, Babinski sign, Seizure |
OMIM:618193 |
Schindler Disease, Type I |
|
Myoclonus, Spasticity, Seizure |
OMIM:609241 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Generalized myoclonic seizure, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadochokine... |
ORPHA:313772 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Clumsiness, Blepharospasm, General... |
ORPHA:352582 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Myoclonus, Spasticity, Ataxia |
OMIM:616494 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Myoclonus, Resting tremor, Limb hypertonia |
ORPHA:324588 |
Atypical Juvenile Parkinsonism |
|
Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Rigidity, Gait ataxia, Involunt... |
ORPHA:391411 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Seizure |
ORPHA:397933 |
Developmental And Epileptic Encephalopathy 68 |
|
Status epilepticus, Exaggerated startle response, Myoclonus, Spasticity, Clonus |
OMIM:618201 |
Congenital Hydrocephalus |
|
Hydrocephalus, Bulbous nose, Abnormal cortical gyration, Optic atrophy, Lissencephaly, Ventriculo... |
ORPHA:2185 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Choreoathetosis, Involuntary movements, Parox... |
OMIM:606703 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Myoclonus, Spastic tetraplegia, Seizure |
OMIM:614462 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Focal impaired awareness seizure, Myoclonus, Infantile spasms, Cho... |
ORPHA:485350 |
Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... |
ORPHA:97355 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Myoclonus, Seizure |
OMIM:618240 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Athetosis, Myoclonus, Rigidity, Seizure |
OMIM:618241 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Retrocollis, Myoclonus, Tremor, Spasticity |
OMIM:617284 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor |
OMIM:619862 |
Familial Infantile Bilateral Striatal Necrosis |
|
Hypertonia, Ataxia, Myoclonus, Babinski sign, Rigidity, Tetraparesis, Frequent falls, Cogwheel ri... |
ORPHA:225154 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Seizure |
OMIM:617493 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Myoclonus, Babinski sign, Abnormal upper motor neuron morphology, Spasticity, Seizure, Apraxia |
OMIM:221770 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Hydrocephalus |
OMIM:617244 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Atypical Rett Syndrome |
|
Generalized myoclonic seizure, Hand apraxia, Pill-rolling tremor, Infantile spasms, Stereotypical... |
ORPHA:3095 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Myoclonus, Spasticity, Seizure, Abnormality of extrapyramidal motor function |
OMIM:614299 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure |
OMIM:607876 |
Hyperekplexia 1 |
|
Hypertonia, Exaggerated startle response, Myoclonus, Nocturnal seizures, Frequent falls, Seizure |
OMIM:149400 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Hypertonia, Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Spastic dysarthria, Progressive s... |
ORPHA:401866 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Head titubation, Tre... |
OMIM:618877 |
Papilloma Of Choroid Plexus |
|
Papilledema, Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Recurrent hand flapping, Focal impaired awareness seizure, Myoclonus, Cerebral ... |
OMIM:617600 |
Nipah Virus Disease |
|
Tremor, Myoclonus, Seizure |
ORPHA:99825 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Parkinsonism, Rigidity, Gait ataxia, Postural tre... |
ORPHA:101150 |
Hereditary Hyperekplexia |
|
Hypertonia, Ataxia, Myoclonus, Rigidity, Spasticity, Seizure, Fasciculations |
ORPHA:3197 |
Early-Onset Lafora Body Disease |
|
Spastic tetraparesis, Myoclonus, Ataxia, Seizure |
ORPHA:324290 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Atonic seizure, Focal impaired awareness seizure, Generalized tonic seizure, My... |
ORPHA:411986 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Short stature, Hypogonadotropic hypogonadism, Delayed puberty, Hypogonadism |
ORPHA:141333 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Myoclonus, Infantile spasms, Tetraparesis, Spasticity, Focal-onset seizure |
OMIM:618972 |
Alzheimer Disease 3 |
|
Myoclonus, Babinski sign, Apraxia, Seizure, Spastic tetraparesis, Abnormality of extrapyramidal m... |
OMIM:607822 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Status epilepticus, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia... |
ORPHA:363400 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Simplified gyral pattern, Hydrocephalus |
OMIM:619470 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... |
ORPHA:397946 |
Lissencephaly 5 |
|
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... |
OMIM:615191 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Epilepsy, Progressive Myoclonic, 10 |
|
Ataxia, Progressive cerebellar ataxia, Generalized myoclonic seizure, Myoclonus, Spasticity, Spas... |
OMIM:616640 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Myoclonus, Rigidity |
OMIM:619057 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Myoclonus, Babinski sign, Truncal ataxia, Spasticity, Seizure |
OMIM:252011 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Myoclonus, Babinski sign, Rigidity |
OMIM:600795 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Dysmetria, Intention tremor, Myoclonus, Dysdiadochokinesis, Chorea, Frequent falls, Gait ... |
ORPHA:251347 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Subependymal Nodular Heterotopia |
|
Focal aware seizure, Limb myoclonus, Partial agenesis of the corpus callosum, Focal-onset seizure... |
ORPHA:101030 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Limb ataxia, Dysmetria, Hand tremor, Intention tremor, Babinski sign, Truncal ataxia, Lim... |
ORPHA:276198 |
Dystonia 26, Myoclonic |
|
Torticollis, Myoclonus, Blepharospasm |
OMIM:616398 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb ataxia, Dysmetria, Blepha... |
ORPHA:101 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks |
ORPHA:2898 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Myoclonus, Rigidity, Seizure |
OMIM:300673 |
Narp Syndrome |
|
Ataxia, Babinski sign, Myoclonic spasms, Progressive gait ataxia, Seizure |
ORPHA:644 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Myoclonus, Abnormal pyramidal sign, Spasticity, Seizure, Abnormality of e... |
ORPHA:79279 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Status epilepticus, Hypertonia, Opisthotonus, Myoclonus, Babinski sign, Cerebral palsy, Febrile s... |
OMIM:619847 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Typical absence seizure, Motor stereotypy, Ataxia, Cortical myoclonus, Atonic seizure, Generalize... |
ORPHA:168491 |
Developmental And Epileptic Encephalopathy 101 |
|
Myoclonus, Opisthotonus, Seizure |
OMIM:619814 |
Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... |
ORPHA:282166 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl... |
OMIM:183090 |
Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Depressed nasal brid... |
OMIM:609637 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Myoclonus, Seizure |
OMIM:614946 |
Gaucher Disease, Type Iii |
|
Spastic paraparesis, Myoclonus, Generalized myoclonic seizure, Ataxia |
OMIM:231000 |
Developmental And Epileptic Encephalopathy 36 |
|
Optic atrophy, Hydrocephalus, Anteverted nares |
OMIM:300884 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Seizure, Oculomotor apraxia, Eyelid myoc... |
OMIM:618060 |
X-Linked Dystonia-Parkinsonism |
|
Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response to dopaminergi... |
ORPHA:53351 |
Abeta Amyloidosis, Iowa Type |
|
Myoclonus |
ORPHA:324708 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Arrhinencephaly, Optic atrophy, Lissencephaly, Septo-optic dysplasia, Frontal ence... |
ORPHA:1528 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Chorea, Tremor, Spasticity, Postural tremor, Tongue f... |
ORPHA:99 |
Gómez-López-Hernández Syndrome |
|
Anteverted nares, Hydrocephalus, Short stature |
ORPHA:1532 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Babinski sign, Spasticity, Upper motor neuron dysfunc... |
ORPHA:204 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, Generalized myoclonic seizure, Hyperkinetic movements, Bilateral toni... |
OMIM:271980 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Status epilepticus, Ataxia, Myoclonus, Limb hypertonia, Rigidity, Tremor, Involuntary movements, ... |
ORPHA:442835 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Dystonia 34, Myoclonic |
|
Torticollis, Myoclonus, Head tremor, Hand tremor |
OMIM:619724 |
Huntington Disease |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Myoclonus, Babinski sign, Rigidity, Chore... |
ORPHA:399 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Status epilepticus, Myoclonus, Generalized-onset seizure, Paralysis, Focal-onset seizure |
ORPHA:83601 |
Pontocerebellar Hypoplasia, Type 2E |
|
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Tonic seizure, Opisthotonus, M... |
OMIM:615851 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Status epilepticus, Tonic seizure, Myoclonus, Febrile status epilepticus, Febrile seizure (within... |
OMIM:612949 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly, Short stature |
OMIM:303350 |
D-Glyceric Aciduria |
|
Myoclonus, Spasticity, Chorea, Seizure |
ORPHA:941 |
Riboflavin Transporter Deficiency |
|
Tremor, Myoclonus, Ataxia, Seizure |
ORPHA:97229 |
D-Glyceric Aciduria |
|
Status epilepticus, Opisthotonus, Focal clonic seizure, Myoclonus, Tongue thrusting, Bilateral to... |
OMIM:220120 |
Pyridoxal Phosphate-Responsive Seizures |
|
Status epilepticus, Hypertonia, Myoclonus, Seizure |
ORPHA:79096 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Hypertonia, Ataxia, Myoclonus, Parkinsonism, Seizure, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Seizure |
OMIM:233910 |
Achondroplasia |
|
Depressed nasal bridge, Hydrocephalus, Neonatal short-limb short stature, Rhizomelia |
OMIM:100800 |
Lafora Disease |
|
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Ataxia, Focal im... |
ORPHA:501 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Myoclonus, Epileptic spasm, Lateral ventricle dilatation, Seizure, Spastic tetraparesis |
ORPHA:284417 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal nasal morphology, Hydrocephalus, Polymicrogyria, Depressed nasal bridge |
ORPHA:83473 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:613839 |
Posttransplant Acute Limbic Encephalitis |
|
Myoclonus, Ataxia, Seizure |
ORPHA:163921 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Myoclonus, Epileptic spasm, Agenesis of corpus callosum, Partial agenesis of the corpus callosum,... |
ORPHA:500144 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Limb myoclonus |
ORPHA:356 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Diencephalic Syndrome |
|
Optic atrophy, Hydrocephalus |
ORPHA:1672 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Titubation, Gait ataxia, Seizure |
ORPHA:98768 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Myoclonus, Epileptic spasm |
OMIM:619060 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Depressed nasal bridge, Optic atrophy, Short nose, Choanal atres... |
ORPHA:1914 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Myoclonic Epilepsy Of Lafora |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... |
OMIM:254780 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... |
OMIM:137440 |
Pettigrew Syndrome |
|
Hydrocephalus, Prominent nose, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Optic atrophy, Type II lissencephaly, Ventriculomegaly, Intrauterine growth retard... |
ORPHA:272 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Tremor, Gait ataxia |
OMIM:616505 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
Temple Syndrome |
|
Hydrocephalus, Short stature, Depressed nasal bridge, Wide nose, Anteverted nares, Intrauterine g... |
OMIM:616222 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Bilat... |
ORPHA:79264 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Aganglionic megacolon |
OMIM:304100 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Myoclonus, Seizure |
OMIM:616158 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Myoclonus, Abnormal pyramidal sign, Involuntary movements, Dysmetria |
OMIM:619780 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus, Short stature |
ORPHA:2183 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Hypertonia, Myoclonus, Lateral ventricle dilatation, Spasticity, Seizure |
ORPHA:3078 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus, Bulbous nose, Depressed nasal bridge, Anteverted nares, Wide nasal bridge |
OMIM:600991 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Underdeveloped nasal alae, Wide nasal bridge, Short stature |
ORPHA:1516 |
Childhood Absence Epilepsy |
|
Typical absence seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:64280 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Hyperekplexia 2 |
|
Hypertonia, Myoclonus, Exaggerated startle response |
OMIM:614619 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upper motor neuron dysf... |
ORPHA:466722 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Gray matter heterotopia, Anencephaly, Optic nerve dysplasia, Type II lissencephaly... |
OMIM:615287 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Convex nasal ridge, Ventriculomegaly, CSF lymphocytic pleiocytosis, Intrauterine g... |
OMIM:610333 |
Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy, Generalized myoclonic seizure, Myoclonus, Infantile spasms, Generalized-onset s... |
OMIM:300672 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Bulbous nose, Gray matter heterotopia, Communicating hydrocephalus, Optic atrophy, Lissencephaly,... |
OMIM:615219 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Status epilepticus, Opisthotonus, Myoclonus, Chorea, Tetraparesis, Bilateral tonic-clonic seizure |
OMIM:616672 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus |
OMIM:300864 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature, Short nose, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
Optic Pathway Glioma |
|
Optic atrophy, Growth delay, Hydrocephalus, Papilledema |
ORPHA:2086 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypertonia, Ataxia, Opisthotonus, Myoclonus, Spastic paraplegia, Choreoathetosis, Spasticity, Sei... |
OMIM:614969 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Short nose, Aganglionic megacolon, Wide nasal bridge |
OMIM:613603 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Encephalocele |
ORPHA:65 |
Neuraminidase Deficiency |
|
Myoclonus, Slurred speech, Dysmetria, Seizure |
OMIM:256550 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypertonia, Opisthotonus, Myoclonus, Abnormal pyramidal sign, Progressive extrapyramidal movement... |
ORPHA:445038 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Polymicrogyria, Lissencephaly, Simplified gyral pattern,... |
OMIM:616212 |
Developmental And Epileptic Encephalopathy 72 |
|
Infantile spasms, Hyperkinetic movements |
OMIM:618374 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Juvenile Sialidosis Type 2 |
|
Ataxia, Generalized myoclonic seizure, Dysmetria, Myoclonus, Spasticity, Seizure, Lower limb spas... |
ORPHA:93399 |
Cog8-Cdg |
|
Myoclonus, Ataxia, Seizure |
ORPHA:95428 |
Peho Syndrome |
|
Myoclonus, Seizure |
OMIM:260565 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Sialidosis Type 1 |
|
Ataxia, Myoclonus, Tremor, Seizure, Slurred speech |
ORPHA:812 |
Unilateral Polymicrogyria |
|
Status epilepticus, Pseudobulbar paralysis, Focal impaired awareness seizure, Poor fine motor coo... |
ORPHA:268943 |
Pseudohypoparathyroidism Type 2 |
|
Myoclonic spasms, Hypocalcemic seizures |
ORPHA:94090 |
Bresek Syndrome |
|
Hydrocephalus, Convex nasal ridge, Optic nerve hypoplasia, Neonatal death, Growth delay, Intraute... |
ORPHA:85284 |
Pontocerebellar Hypoplasia, Type 15 |
|
Simplified gyral pattern, Hydrocephalus |
OMIM:619302 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Depressed nasal bridge, Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:602501 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Type II lissencephaly, Optic nerve hypoplasia, Hydrocephalus, Polymicrogyria |
OMIM:615181 |
Microcephaly-Capillary Malformation Syndrome |
|
Spastic tetraparesis, Myoclonus, Seizure |
OMIM:614261 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Type II lissencephaly, Agyria, Lissencephaly, Ventriculomegaly, Simplified gyral p... |
OMIM:613153 |
Adult-Onset Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... |
ORPHA:199351 |
Kohlschutter-Tonz Syndrome-Like |
|
Status epilepticus, Motor stereotypy, Ataxia, Generalized tonic seizure, Myoclonus, Nocturnal sei... |
OMIM:619229 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia |
ORPHA:2512 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Choanal atresia |
OMIM:612247 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Abnormal fifth cranial nerve morphology, Abnormality of in... |
ORPHA:449563 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Adenylosuccinase Deficiency |
|
Opisthotonus, Myoclonus, Gait ataxia, Spasticity, Seizure |
OMIM:103050 |
Parkinsonian-Pyramidal Syndrome |
|
Bradykinesia, Intention tremor, Myoclonus, Abnormal pyramidal sign, Babinski sign, Parkinsonism, ... |
ORPHA:171695 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Myoclonus, Limb tremor, Head tremor |
ORPHA:420492 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Holoprosencephaly, Short stature, Depressed nasal bridge, Ventriculomegaly, Abnorm... |
ORPHA:93274 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Wide nasal bridge |
OMIM:618302 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Short nose, Ventriculomegaly, Anteverted nares, Wide nasal bridge |
OMIM:618577 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Microcephaly, Hypoplasia of the corpus callosum, Hypoplastic anterior commissure |
OMIM:616975 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Wide nasal bridge, Wide nasal base |
OMIM:616521 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Bilateral tonic-clonic seizure with generalized onset, Myoclonus, Epileptic spasm, Speech apraxia... |
ORPHA:314655 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Myoclonus, Ataxia, Neonatal death, Seizure |
OMIM:619167 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lissencephaly, Pachygyria |
ORPHA:300573 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia |
ORPHA:370980 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Depressed nasal bridge, Dilated fourth ventricle, Wide nasal bridge, Dandy-Walker ... |
OMIM:220220 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Athetosis, Hyperkinetic movements, Spasticity, Seizure |
OMIM:612073 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Hyperkinetic movements, Choreoathetosis, Involuntary movements |
OMIM:618218 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Myoclonus, Spasticity, Seizure |
OMIM:246450 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration, Short nose, Choanal atresia, Anteverted nares |
ORPHA:1895 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Myoclonus, Tongue fasciculations, Seizure |
OMIM:614922 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus |
ORPHA:168593 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Status epilepticus, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Spasticity, Seizure |
ORPHA:364028 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Fasciculations, Vocal cord paresis, Polyminimyoclonus |
OMIM:619574 |
Krabbe Disease |
|
Optic atrophy, Hydrocephalus, Decreased nerve conduction velocity, Increased CSF protein |
OMIM:245200 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Status epilepticus, Ataxia, Myoclonus, Right hemiplegia, Tremor, Seizure |
OMIM:607426 |
Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle clonus, Pill-rolling tremor, Parkins... |
OMIM:612953 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Abnormality of neuronal migration |
OMIM:614887 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:203450 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Myoclonus, Babinski sign, Limb hyperton... |
OMIM:608643 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Opisthotonus, Myoclonus, Hyperkinetic movements, Tremor, Choreoathetosis, Spasticity, Sei... |
OMIM:616271 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Depressed nasal ridge, Short stature, Short nose, Rhizomelia, Intrauterine growth ... |
OMIM:300863 |
Tay-Sachs Disease |
|
Typical absence seizure, Clumsiness, Focal impaired awareness seizure, Exaggerated startle respon... |
ORPHA:845 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Gray matter heterotopia, Disproportionate short-limb short stature, Depressed nasa... |
ORPHA:2655 |
Serotonin Syndrome |
|
Hypertonia, Myoclonus, Rigidity, Tremor, Clonus, Seizure |
ORPHA:43116 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, Tremor, Seizure |
ORPHA:98794 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Infantile Krabbe Disease |
|
Generalized myoclonic seizure, Opisthotonus, Ankle clonus, Myoclonus, Decerebrate rigidity, Spast... |
ORPHA:206436 |
L1 Syndrome |
|
Hydrocephalus, Aganglionic megacolon, Aqueductal stenosis |
ORPHA:275543 |
Galloway-Mowat Syndrome 10 |
|
Myoclonus |
OMIM:619609 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Status epilepticus, Hemiplegia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awarenes... |
OMIM:616973 |
Angelman Syndrome |
|
Status epilepticus, Atypical absence seizure, Ataxia, Atonic seizure, Recurrent hand flapping, Ge... |
ORPHA:72 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Hydrocephalus, Choanal atresia, Convex nasal ridge |
ORPHA:93262 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker m... |
OMIM:225790 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Hyperkinetic movements, Tremor, Bilateral tonic-clonic seizure, Seizure, Upper ... |
ORPHA:457240 |
Hemangioblastoma |
|
Hydrocephalus, Neurogenic bladder |
ORPHA:252054 |
Developmental And Epileptic Encephalopathy 100 |
|
Typical absence seizure, Motor stereotypy, Tonic seizure, Myoclonus, Infantile spasms, Myoclonic ... |
OMIM:619777 |
Muscle-Eye-Brain Disease |
|
Optic atrophy, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Mend Syndrome |
|
Hydrocephalus, Prominent nasal bridge, Dandy-Walker malformation, Short stature |
OMIM:300960 |
Central Precocious Puberty |
|
Proportionate short stature, Hydrocephalus |
ORPHA:759 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Status epilepticus, Myoclonus, Neonatal death, Spastic tetraplegia, Clonus, Seizure |
OMIM:619055 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Bulbous nose, Depressed nasal bridge, Prominent nose, Anteverted nares, Wide nasal... |
ORPHA:2180 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Short nose, Thick nasal alae, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Hydrocephalus, Short nose, Short stature |
ORPHA:2701 |
Parkinson Disease 1, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism |
OMIM:168601 |
Japanese Encephalitis |
|
Status epilepticus, Focal motor seizure, Hypertonia, Paucity of anterior horn motor neurons, Opis... |
ORPHA:79139 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Intrauterine growth retardation, Hydrocephalus, Periventricular heterotopia, Short stature, Depre... |
OMIM:619833 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly |
ORPHA:858 |
Temple Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
ORPHA:254516 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Ataxia, Dysmetria, Hoffmann sign, Ankle clonus, Hemiparesis, Limb myoclonus, Apraxia, Seizure, Sp... |
ORPHA:139396 |
Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Hydrocephalus, Short nose, Occipital encephalocele |
OMIM:241800 |
Metatropic Dysplasia |
|
Depressed nasal bridge, Hydrocephalus, Severe short stature |
ORPHA:2635 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly, Abnormal auditory evoked potentials, Short stature |
OMIM:109120 |
Chromosome 17P13.1 Deletion Syndrome |
|
Anteverted nares, Hydrocephalus, Prominent nasal bridge |
OMIM:613776 |
Hydrocephalus With Associated Malformations |
|
Hydrocephalus, Intrauterine growth retardation |
OMIM:236640 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Hyperkinetic movements, Truncal ataxia, Chorea, Seizure |
ORPHA:369847 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Rigidity, Myoclonic spasms, Frequent falls |
OMIM:184850 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Optic atrophy, Hydrocephalus |
ORPHA:99947 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Myoclonus, Infantile spasms, Chorea, Gait ataxia, Spastic tetraplegia, Seizure |
OMIM:618321 |
Early Infantile Epileptic Encephalopathy |
|
Atonic seizure, Generalized tonic seizure, Myoclonus, Infantile spasms, Febrile seizure (within t... |
ORPHA:1934 |
Neuroferritinopathy |
|
Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Chorea, Involuntary mov... |
ORPHA:157846 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hypertonia, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Hyperkinetic m... |
OMIM:613135 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly |
ORPHA:89844 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Wide nasal bridge |
ORPHA:380 |
Fatal Familial Insomnia |
|
Myoclonus, Ataxia |
OMIM:600072 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Myoclonus, Ataxia |
OMIM:560000 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Gray matter heterotopia, Optic nerve hypoplasia, Dilated fourth ventricle, Polymic... |
ORPHA:370959 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Polymicrogyria, Optic atrophy, Ventriculomegaly |
ORPHA:60040 |
3C Syndrome |
|
Hydrocephalus, Short stature, Depressed nasal bridge, Wide nasal bridge, Optic atrophy, Short nos... |
ORPHA:7 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Status epilepticus, Hypertonia, Ataxia, Myoclonus, Epilepsia partialis continua, Paralysis |
OMIM:203700 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Short nose, Anteverted nares, Short columella |
ORPHA:171839 |
Congenital Sialidosis Type 2 |
|
Ataxia, Dysmetria, Myoclonus, Spasticity, Seizure |
ORPHA:93400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Gray matter heterotopia, Encephalocele, Polymicrogyria, Type II lissencephaly, Agy... |
OMIM:614643 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Short stature, Anencephaly, Spinal dysraphism, Meningocele, Enc... |
ORPHA:1908 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Depressed nasal ridge, Short stature, Short nose, Rhizomelia, Intrauterine growth ... |
ORPHA:163966 |
Crouzon Syndrome |
|
Optic atrophy, Hydrocephalus, Choanal atresia, Convex nasal ridge |
ORPHA:207 |
Albers-Schönberg Osteopetrosis |
|
Optic atrophy, Hydrocephalus, Short stature, Facial palsy |
ORPHA:53 |
Joubert Syndrome 14 |
|
Hydrocephalus, Growth delay, Encephalocele, Prominent nasal bridge, Dandy-Walker malformation |
OMIM:614424 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Myoclonus, Gait ataxia, Seizure |
ORPHA:70595 |
Orofaciodigital Syndrome Type 3 |
|
Oculomotor apraxia, Myoclonus, Spasticity, Focal seizure with eyelid myoclonia |
ORPHA:2752 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Hydrocephalus, Ventriculomegaly, Periventricular heterotopia |
OMIM:618476 |
Mental Retardation, Buenos Aires Type |
|
Hydrocephalus, Prominent nose, Wide nasal bridge |
OMIM:249630 |
Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Short stature, Depressed nasal bridge, Optic atrophy, Anteverted nares, Abnormalit... |
ORPHA:585 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta |
OMIM:183802 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Hypogonadism |
OMIM:601794 |
Dystonia-Aphonia Syndrome |
|
Myoclonus, Seizure |
ORPHA:412217 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Gray matter heterotopia |
OMIM:164180 |
Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus, Severe short stature, Depressed nasal bridge, Rhizomelia, Disproportionate short s... |
OMIM:616482 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypertonia, Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Seizure |
OMIM:252160 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... |
ORPHA:899 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Hyperkinetic movements, Spasticity, Seizure |
OMIM:300957 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... |
ORPHA:2211 |
Williams-Beuren Region Duplication Syndrome |
|
Broad nasal tip, Hydrocephalus, Ventriculomegaly, Short stature |
OMIM:609757 |
Infantile Sialic Acid Storage Disease |
|
Anteverted nares, Hydrocephalus |
OMIM:269920 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Brain-Lung-Thyroid Syndrome |
|
Ataxia, Clumsiness, Intention tremor, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, ... |
ORPHA:209905 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus, Disproportionate short-limb short stature, Mild postnatal growth retardation, Shor... |
OMIM:101800 |
Leukodystrophy, Hypomyelinating, 10 |
|
Babinski sign, Hyperkinetic movements, Spasticity, Seizure |
OMIM:616420 |
Desmosterolosis |
|
Hydrocephalus, Severe short stature, Depressed nasal bridge, Polymicrogyria, Abnormal cortical gy... |
ORPHA:35107 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Abnormal cortical gyration, Optic atrophy, Ventriculomegaly, Growth delay, Intraut... |
OMIM:614576 |
Gorlin Syndrome |
|
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Hydrocephalus, Wide nasal bridge |
ORPHA:377 |
Joubert Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Anteverted nares, Encephalocele... |
ORPHA:475 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Wide nasal bridge |
OMIM:175700 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Bilateral tonic-clonic seizure, Myoclonic spasms, Poor coordination |
ORPHA:478029 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor |
OMIM:619738 |
6P22 Microdeletion Syndrome |
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Hydrocephalus |
ORPHA:251046 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
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Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
Tetrasomy 18P |
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Abnormality of neuronal migration |
ORPHA:3307 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
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Hydrocephalus |
OMIM:615599 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
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Short stature, Communicating hydrocephalus, Depressed nasal ridge |
ORPHA:1861 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Abnormality of neuronal migration |
ORPHA:2772 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Status epilepticus, Ataxia, Lower limb hypertonia, Myoclonus, Babinski sign, Truncal ataxia, Spas... |
OMIM:301072 |
Hyperphosphatasia-Intellectual Disability Syndrome |
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Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Seizure, Oculomotor apraxia |
ORPHA:247262 |
Joubert Syndrome With Oculorenal Defect |
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Hydrocephalus, Abnormality of neuronal migration, Anteverted nares, Encephalocele, Prominent nasa... |
ORPHA:2318 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
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Hydrocephalus, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
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Gray matter heterotopia |
OMIM:617008 |
Central Neurocytoma |
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Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Myoclonus, Seizure |
ORPHA:251004 |
Orofaciodigital Syndrome Iii |
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Myoclonus |
OMIM:258850 |
Vacterl Association With Hydrocephalus |
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Hydrocephalus, Stillbirth, Aqueductal stenosis |
OMIM:276950 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Hydrocephalus, Lissencephaly, Anteverted nares, Intrauterine growth retardation, Dandy-Walker mal... |
OMIM:612938 |
Ritscher-Schinzel Syndrome 1 |
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Depressed nasal bridge, Hydrocephalus, Intrauterine growth retardation, Dandy-Walker malformation |
OMIM:220210 |
Whipple Disease |
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Abnormal pyramidal sign, Myoclonus, Ataxia, Seizure |
ORPHA:3452 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
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Hydrocephalus |
ORPHA:397951 |
Rhombencephalosynapsis |
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Hydrocephalus, Short nose, Ventriculomegaly, Septo-optic dysplasia, Anteverted nares, Aganglionic... |
ORPHA:59315 |
Joubert Syndrome With Renal Defect |
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Hydrocephalus, Polymicrogyria, Anteverted nares, Encephalocele, Prominent nasal bridge, Aganglion... |
ORPHA:220497 |
Hypomelanosis Of Ito |
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Gray matter heterotopia |
OMIM:300337 |
Craniofacial Dyssynostosis With Short Stature |
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Hydrocephalus, Ventriculomegaly, Short stature |
OMIM:218350 |
Nmda Receptor Encephalitis |
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Status epilepticus, Motor stereotypy, Opisthotonus, Myoclonus, Rigidity, Chorea, Choreoathetosis,... |
ORPHA:217253 |
Acromelic Frontonasal Dysostosis |
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Periventricular nodular heterotopia, Encephalocele, Gray matter heterotopia |
OMIM:603671 |
Optic Atrophy 11 |
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Ataxia, Hyperkinetic movements, Dysmetria |
OMIM:617302 |
Functioning Gonadotropic Adenoma |
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Amenorrhea, Infertility, Hydrocephalus, Impotence, Oligospermia, Abnormality of the menstrual cyc... |
ORPHA:91348 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
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