Gene: Nrp2 MGI:1100492

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

neuropilin 2

Synonyms:

1110048P06Rik, Npn2, Npn-2, NP-2, NP2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nrp2 mutations

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

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

Human diseases associated with Nrp2 (0 diseases)
Human diseases predicted to be associated with Nrp2 (960 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nrp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
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	Spasticity, Oculomotor apraxia, Myoclonus, Focal seizure with eyelid myoclonia	ORPHA:2752
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Depressed nasal ridge, Short stature	ORPHA:1861
Angelman Syndrome	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	Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Agyria, Hydrocephalus, Lissencep...	OMIM:614643
Multiple Sulfatase Deficiency	Abnormality of peripheral nerve conduction, Optic atrophy, Short stature, Hydrocephalus, Depresse...	ORPHA:585
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker m...	OMIM:225790
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele	OMIM:164180
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Spasticity, Tremor, Seizure	OMIM:300957
Infantile Sialic Acid Storage Disease	Hydrocephalus, Anteverted nares	OMIM:269920
Walker-Warburg Syndrome	Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc...	ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Ventriculomegaly, Optic atrophy, Lateral ventricle dilatation, Hydroceph...	OMIM:613154
Microtriplication 11Q24.1	Hyperkinetic movements, Seizure, Speech apraxia	ORPHA:289522
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly, Wide nasal bridge	OMIM:175700
Desmosterolosis	Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomegaly, Macrogyria, Hydr...	ORPHA:35107
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog...	ORPHA:2211
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements	OMIM:619738
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Optic atrophy, Abnormal cortical gyration, Hydrocephalus, Growth delay, Intraut...	OMIM:614576
Brain-Lung-Thyroid Syndrome	Chorea, Apraxia, Clumsiness, Myoclonus, Choreoathetosis, Incoordination, Ataxia, Involuntary move...	ORPHA:209905
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Gait ataxia, Spasticity, Seizure, Ataxia, Babinski sign, Hyperkinetic movements	OMIM:620089
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Broad nasal tip, Ventriculomegaly, Short stature	OMIM:609757
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Joubert Syndrome	Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Anteverte...	ORPHA:475
Gorlin Syndrome	Hypogonadotropic hypogonadism, Abnormality of the sense of smell, Hydrocephalus, Wide nasal bridge	ORPHA:377
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Optic atrophy, Hypogonadism, Short stature, Hydrocephalus, Mild postnatal...	OMIM:101800
Combined Oxidative Phosphorylation Defect Type 29	Myoclonic spasms, Poor coordination, Bilateral tonic-clonic seizure	ORPHA:478029
Osteopetrosis, Autosomal Recessive 2	Cranial nerve compression, Optic atrophy, Hydrocephalus, Chronic rhinitis due to narrow nasal air...	OMIM:259710
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Hydrocephalus, Aqueductal stenosis	ORPHA:2182
Joubert Syndrome With Oculorenal Defect	Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Anteverte...	ORPHA:2318
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Joubert Syndrome 14	Meningocele, Encephalocele, Optic atrophy, Hydrocephalus, Growth delay, Prominent nasal bridge, D...	OMIM:614424
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Seizure, Postural tremor, Truncal ataxia, Myoclonus, Status epilepticus, Ataxia, Babi...	OMIM:301072
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Stillbirth	OMIM:276950
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Hyperphosphatasia-Intellectual Disability Syndrome	Seizure, Oculomotor apraxia, Myoclonus, Ataxia, Bilateral tonic-clonic seizure	ORPHA:247262
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome

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