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 (928 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	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	Bilateral tonic-clonic seizure, Myoclonic spasms, Poor coordination	ORPHA:478029
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor	OMIM:619738
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Anterior encephalocele	OMIM:614195
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Thoracic Dysplasia-Hydrocephalus Syndrome	Short stature, Communicating hydrocephalus, Depressed nasal ridge	ORPHA:1861
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Status epilepticus, Ataxia, Lower limb hypertonia, Myoclonus, Babinski sign, Truncal ataxia, Spas...	OMIM:301072
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Seizure, Oculomotor apraxia	ORPHA:247262
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Abnormality of neuronal migration, Anteverted nares, Encephalocele, Prominent nasa...	ORPHA:2318
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly	ORPHA:2182
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Paternal Uniparental Disomy Of Chromosome 1	Myoclonus, Seizure	ORPHA:251004
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Vacterl Association With Hydrocephalus	Hydrocephalus, Stillbirth, Aqueductal stenosis	OMIM:276950
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Lissencephaly, Anteverted nares, Intrauterine growth retardation, Dandy-Walker mal...	OMIM:612938
Ritscher-Schinzel Syndrome 1	Depressed nasal bridge, Hydrocephalus, Intrauterine growth retardation, Dandy-Walker malformation	OMIM:220210
Whipple Disease	Abnormal pyramidal sign, Myoclonus, Ataxia, Seizure	ORPHA:3452
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Rhombencephalosynapsis	Hydrocephalus, Short nose, Ventriculomegaly, Septo-optic dysplasia, Anteverted nares, Aganglionic...	ORPHA:59315
Joubert Syndrome With Renal Defect	Hydrocephalus, Polymicrogyria, Anteverted nares, Encephalocele, Prominent nasal bridge, Aganglion...	ORPHA:220497
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly, Short stature	OMIM:218350
Nmda Receptor Encephalitis	Status epilepticus, Motor stereotypy, Opisthotonus, Myoclonus, Rigidity, Chorea, Choreoathetosis,...	ORPHA:217253
Acromelic Frontonasal Dysostosis	Periventricular nodular heterotopia, Encephalocele, Gray matter heterotopia	OMIM:603671
Optic Atrophy 11	Ataxia, Hyperkinetic movements, Dysmetria	OMIM:617302
Functioning Gonadotropic Adenoma	Amenorrhea, Infertility, Hydrocephalus, Impotence, Oligospermia, Abnormality of the menstrual cyc...	ORPHA:91348
Intellectual Developmental Disorder, Autosomal Dominant 35

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