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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Generalized myoclonic seizure, Ataxia, Myoclonus OMIM:208700
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Atonic seizure, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Myoclonus, Familial, 2
Limb myoclonus, Seizure OMIM:618364
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Focal-onset seizure, Myoclonus, Generalized-onset seizure ORPHA:86814
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, Fo... OMIM:615400
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Gait ataxia, Fre... OMIM:616540
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Myoclonic ... OMIM:162350
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Spinocerebellar Ataxia 20
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Epilepsy, Progressive Myoclonic, 11
Seizure, Intention tremor, Rigidity, Ataxia, Myoclonus OMIM:618876
Myoclonus-Dystonia Syndrome
Limb myoclonus, Torticollis, Spinal myoclonus, Myoclonus ORPHA:36899
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Upper motor neuron dy... ORPHA:95434
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Intention tremor, Progressive cerebellar ataxia, Myoclonus ORPHA:2589
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal... OMIM:613721
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication, Myoclonus OMIM:314250
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Tremor, Bilateral tonic-clonic sei... OMIM:618587
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Chorea, Seizure, Infantile spasms, Spasticity, Bilateral tonic-clonic seizure, M... OMIM:616139
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus, Focal hemifacial clonic seizure, ... OMIM:608105
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Peripheral axonal neuropathy, Dysgenesis of the basal ganglia,... OMIM:600638
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral tonic-clonic seizure... OMIM:204300
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years)... OMIM:616366
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Truncal ataxia, Episodic ataxia... OMIM:607682
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Ataxia, Myoclonus OMIM:600143
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Photosensitive tonic-clonic seizure, Generalized-onset s... ORPHA:307
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Generalized myoclonic seizure, Seizure, Spasticity, Ataxia, Myoclonus OMIM:545000
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Seizure, Tremor, Spasticity, Ataxia, Abnormal pyram... ORPHA:79262
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Multifocal seizures, Spasticity, Bilateral tonic-clonic seizure, ... OMIM:616981
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz... OMIM:616421
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Seizure, Tremor, Spasticity, Frequent falls, Gait ata... OMIM:607317
Benign Familial Neonatal Epilepsy
Simple febrile seizure, Focal-onset seizure, Neonatal seizure, Focal tonic seizure, Clonus, Statu... ORPHA:1949
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Seizure, Tremor... OMIM:615362
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls OMIM:616921
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonic status epilepticus, Tremor, Bilateral tonic-cl... OMIM:614018
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus OMIM:159900
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Fasciculations, Myoclonus OMIM:611721
Episodic Ataxia, Type 5
Typical absence seizure, Truncal ataxia, Episodic ataxia, Bilateral tonic-clonic seizure, Atypica... OMIM:613855
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus 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
Limb ataxia, Truncal ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Myoclonus, Choreoa... OMIM:616230
Early Myoclonic Encephalopathy
Generalized myoclonic seizure, Focal seizure with eyelid myoclonia, Infantile spasms, Focal motor... ORPHA:1935
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Encephalopathy, Progressive, With Or Without Lipodystrophy
Seizure, Tremor, Spasticity, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Ataxia, Myoclonus OMIM:204500
Glut1 Deficiency Syndrome 1
Babinski sign, Seizure, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis OMIM:606777
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Hyperkinetic movements, Focal motor seizure, Seizur... ORPHA:725
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
Developmental And Epileptic Encephalopathy 16
Abnormality of extrapyramidal motor function, Hemiparesis, Myoclonus, Status epilepticus, Clonic ... OMIM:615338
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Atypical abse... ORPHA:2382
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Hyperkinetic movem... OMIM:619317
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Hemiparesis, Myoclon... ORPHA:352596
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, Status epilepticus, Hyperkinetic movements, Myoclonus OMIM:618285
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare... ORPHA:726
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Seizure, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia,... ORPHA:71277
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Seizure, Focal tonic seizure, Limb tremor, Myoclonus OMIM:300699
Developmental And Epileptic Encephalopathy 40
Seizure, Spasticity, Spastic tetraparesis, Myoclonus, Choreoathetosis OMIM:617065
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Seizure, Focal tonic seizure, Hemiparesis, Atonic seizure, ... ORPHA:99802
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Photosensitive myoclonic seizure, Progressive cerebellar ataxia, Bilater... ORPHA:263516
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Seizure, Tremor, Myoclonus, Choreoathetosis OMIM:261630
Developmental And Epileptic Encephalopathy 92
Seizure, Ataxia, Spasticity, Myoclonus OMIM:617829
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertonia, Myoclonus, S... ORPHA:254343
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Spasticity, Bilateral tonic-clonic seizure, Tonic seizure, Gait ataxia, ... OMIM:620145
Dravet Syndrome
Epilepsia partialis continua, Focal-onset seizure, Incoordination, Action tremor, Atypical absenc... ORPHA:33069
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia, Thin corpus callosum, Pachygyria, Abnormality of the anterior commissure ORPHA:572013
Dystonia 23
Head tremor, Torticollis, Myoclonus OMIM:614860
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Tongue fasciculations, Generalized-onset seizure, Tremor, Frequent... OMIM:159950
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Frequent falls, Ataxia, M... OMIM:301020
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Chorea, Incoordination, Poor motor coordination, Frequent falls, Clonus, Paroxysma... OMIM:500003
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus ORPHA:166063
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia ORPHA:101029
Lissencephaly, X-Linked, 1
Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria OMIM:300067
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Hyperkinetic movements, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:618497
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Erratic myoclonus, Seizure, Ataxia, Myoclonus, Spastic tetraplegia OMIM:619971
Creutzfeldt-Jakob Disease
Gait ataxia, Extrapyramidal muscular rigidity, Hemiparesis, Myoclonus OMIM:123400
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Lissencephaly, Periventricular lamin... OMIM:611603
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Dysdiadochokinesis, Limb tremor, Ataxia, Myoclonus, Clumsiness, Dysmetria OMIM:256731
Spinocerebellar Ataxia Type 37
Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Spastic diplegia OMIM:619065
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Optic atrophy ORPHA:1538
Chudley-Mccullough Syndrome
Hydrocephalus, Polymicrogyria, Gray matter heterotopia OMIM:604213
Phosphoserine Aminotransferase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610992
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign, Genera... OMIM:612016
Glycine Encephalopathy 1
Seizure, Agenesis of corpus callosum, Myoclonus OMIM:605899
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139431
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus OMIM:619651
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610090
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typi... ORPHA:208447
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Choreoathetosis, Bilateral tonic-clonic seizure, Myoclonus OMIM:609056
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl... OMIM:607346
Congenital Disorder Of Glycosylation, Type In
Seizure, Ataxia, Spasticity, Myoclonus OMIM:612015
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Ataxia, Myo... OMIM:619028
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Seizure, Slurred speech, Myoclonus ORPHA:3327
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Intention tremor, Myoclonus, Status epi... OMIM:610539
Pontocerebellar Hypoplasia, Type 4
Seizure, Hypertonia, Spasticity, Myoclonus OMIM:225753
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Hyperkinetic movements, Chorea, Seizure, Spasticity, Myoclonic seizure, Myoclonu... OMIM:614254
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Dysmetria, Myoclonus OMIM:618251
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Seizure, Tremor, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Seizure, Generalized-onset seizure, Tremor, Spasticity, Poor fine motor coordination, Myo... ORPHA:79263
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, Myoclonus, Focal... OMIM:615859
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge OMIM:209970
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic s... OMIM:617290
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Bilateral toni... OMIM:614487
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Progressive spastic paraplegia ORPHA:306511
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Hyperekplexia 4
Seizure, Hypertonia, Infantile spasms, Myoclonus OMIM:618011
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Parkinsoni... OMIM:204200
Thyrocerebroretinal Syndrome
Seizure, Ataxia, Slurred speech, Myoclonus OMIM:274240
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Chorea, Seizure, Gait ataxia, Intention tremor, Rigidity, Ata... OMIM:607136
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Chorea, Seizure, Gait ataxia, Rigidity, Ataxia, Myoc... ORPHA:248111
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Myoclonus,... OMIM:606703
Alexander Disease
Babinski sign, Seizure, Spasticity, Ataxia, Dysmetria, Palatal tremor OMIM:203450
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Agenesis of the anterior commissure, Polymicrogyria, Type II l... ORPHA:300570
Developmental And Epileptic Encephalopathy 1
Generalized myoclonic seizure, Focal-onset seizure, Hypertonia, Erratic myoclonus, Focal motor se... OMIM:308350
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Bilateral tonic-cloni... OMIM:619913
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Hsd10 Disease
Seizure, Tremor, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreoathetosis ORPHA:391417
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Limb hypertonia, Myoclonus ORPHA:324588
Foxg1 Syndrome
Focal-onset seizure, Hyperkinetic movements, Infantile spasms, Spasticity, Bilateral tonic-clonic... ORPHA:561854
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Hypertonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Febrile seizure... ORPHA:289266
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Bilateral tonic-clonic seizure, Intenti... OMIM:619725
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Seizure, Myoclonus OMIM:604218
Developmental And Epileptic Encephalopathy 68
Spasticity, Exaggerated startle response, Clonus, Myoclonus, Status epilepticus OMIM:618201
Ceroid Lipofuscinosis, Neuronal, 1
Seizure, Ataxia, Spasticity, Myoclonus OMIM:256730
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Torticollis, Blepharospasm, Upper limb postural tremor, Myoclonus, Vocal tremor ORPHA:420485
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Lower limb spasticity, Ch... ORPHA:485350
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Seizure, Apraxia, Myoclonus OMIM:618193
Peho-Like Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:617507
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Seizure, Ataxia, Spasticity, Myoclonus OMIM:620094
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Abnormality of extrapyramidal motor function, C... ORPHA:13
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Spastic dysarthria, Oculomotor apraxia, Spasticity, Dysdiadochokin... ORPHA:313772
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Simple febrile seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:352582
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Tremor, G... OMIM:619092
Atypical Juvenile Parkinsonism
Bradykinesia, Resting tremor, Seizure, Gait ataxia, Involuntary movements, Slowed slurred speech,... ORPHA:391411
Band Heterotopia
Hydrocephalus, Polymicrogyria, Subcortical band heterotopia, Gray matter heterotopia OMIM:600348
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Seizure, Head titubation, Ataxia, Agenesis of corpus callosum, Myoclonus, Dysmetria OMIM:250620
Acalvaria
Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Spina bifida ORPHA:945
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Congenital Hydrocephalus
Optic atrophy, Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculo... ORPHA:2185
Caribbean Parkinsonism
Bradykinesia, Apraxia, Action tremor, Rigidity, Parkinsonism, Myoclonus, Weakness due to upper mo... ORPHA:97355
Dystonia 28, Childhood-Onset
Torticollis, Retrocollis, Spasticity, Tremor, Myoclonus OMIM:617284
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia OMIM:166990
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Bradykinesia, Torticollis, Gait ataxia, Limb myoclonus, Postural tremor OMIM:619862
Schindler Disease, Type I
Seizure, Spasticity, Myoclonus OMIM:609241
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Frequent falls, Gait ataxia, Cogwhee... ORPHA:225154
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Spasticity, Myoclonic seizure, Ataxia, Myoclonus OMIM:618225
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly, Pachygyria, Lis... OMIM:618325
Myoclonus, Intractable, Neonatal
Chorea, Clonic seizure, Athetosis, Myoclonus OMIM:617235
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Bilateral tonic-clonic se... ORPHA:254881
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Myoclonus OMIM:607876
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Hyperkinetic movements ORPHA:397933
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Hereditary Hyperekplexia
Hypertonia, Fasciculations, Seizure, Spasticity, Rigidity, Ataxia, Myoclonus ORPHA:3197
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Seizure, Infantile spasms, Involuntary movements, Clonus, Myoclonic seiz... OMIM:620352
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Seizure, Spasticity, Lateral vent... OMIM:221770
Hyperekplexia 1
Hypertonia, Nocturnal seizures, Seizure, Exaggerated startle response, Frequent falls, Myoclonus OMIM:149400
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Myoclonus OMIM:616398
Alzheimer Disease 3
Babinski sign, Apraxia, Optic ataxia, Abnormality of extrapyramidal motor function, Seizure, Spas... OMIM:607822
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Seizure, Tremor, Spasticity, Gait ataxia... OMIM:618877
Childhood-Onset Spasticity With Hyperglycinemia
Babinski sign, Hypertonia, Spastic dysarthria, Progressive spasticity, Ataxia, Myoclonus, Spastic... ORPHA:401866
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Nipah Virus Disease
Seizure, Tremor, Myoclonus ORPHA:99825
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Seizure, Parkinsonism with favorable respon... OMIM:606693
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Optic atrophy, Simplified gyral pattern OMIM:619470
Mitochondrial Dna Depletion Syndrome 19
Focal-onset seizure, Infantile spasms, Spasticity, Myoclonus, Tetraparesis OMIM:618972
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Gait ataxia, Rigidity,... ORPHA:101150
Mitochondrial Complex I Deficiency, Nuclear Type 19
Seizure, Athetosis, Rigidity, Myoclonus OMIM:618241
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Generalized myoclonic seizure, Focal-onset seizure, Hypertonia, Limb hypertonia, M... OMIM:614498
Autosomal Spastic Paraplegia Type 58
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba... ORPHA:397946
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Babinski sign, Hypertonia, Seizure, Spasticity, Cerebral palsy, Clonus, Febrile seizure (within t... OMIM:619847
Alexander Disease Type I
Seizure, Spasticity, Ataxia, Abnormal pyramidal sign, Palatal tremor ORPHA:363717
Biemond Syndrome Type 2
Delayed puberty, Hydrocephalus, Short stature, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Early-Onset Lafora Body Disease
Seizure, Spastic tetraparesis, Ataxia, Myoclonus ORPHA:324290
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, Seizure, Dysdiadochokine... ORPHA:101
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Anteverted nares, Syntelenc... OMIM:609637
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Fasciculations, Tongue fasciculations, Truncal ataxia, Head tremor, I... ORPHA:276198
Epilepsy, Progressive Myoclonic, 10
Generalized myoclonic seizure, Progressive cerebellar ataxia, Seizure, Spasticity, Ataxia, Spasti... OMIM:616640
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Hypertonia, Seizure, Dysdiadochokinesis, Intention tremor, Ataxia, Myoclonus, Dysm... OMIM:618356
Severe Neurodegenerative Syndrome With Lipodystrophy
Seizure, Tremor, Spasticity, Poor motor coordination, Gait ataxia, Ataxia, Myoclonus, Abnormal py... ORPHA:363400
Atypical Rett Syndrome
Pill-rolling tremor, Generalized myoclonic seizure, Neonatal seizure, Apraxia, Seizure, Infantile... ORPHA:3095
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Narp Syndrome
Babinski sign, Seizure, Myoclonic spasms, Ataxia, Progressive gait ataxia ORPHA:644
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Tremor, Episodic ataxia, Agenesis of corpus callosum, Myoclonus, Choreoathetosis OMIM:312170
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia, Subcortic... OMIM:615191
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, S... OMIM:271980
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxia, Intention tremor, At... ORPHA:251347
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus OMIM:619057
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonic seizure, Hypertonia, Myoclonus OMIM:618240
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Infantile spasms, Spasticity, Athetosis, Bilateral tonic-clonic s... OMIM:617493
Spinocerebellar Ataxia 13
Limb ataxia, Progressive cerebellar ataxia, Spasticity, Myoclonus, Gait ataxia, Limb dysmetria, A... OMIM:605259
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Craniotelencephalic Dysplasia
Optic atrophy, Lissencephaly, Hydrocephalus, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Anteverted nares, Optic atrophy OMIM:300884
Subependymal Nodular Heterotopia
Focal-onset seizure, Seizure, Focal aware seizure, Limb myoclonus, Partial agenesis of the corpus... ORPHA:101030
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Babinski sign, Truncal ataxia, Seizure, Spasticity, Ataxia, Myoclonus OMIM:252011
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Atonic seizure, Myoclonus, Generalized... ORPHA:411986
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Seizure, Rigidity, Myoclonus OMIM:300673
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Hypertonia, Seizure, Spastic tetraparesis, Lateral ventricle dilatation, Myoclonus ORPHA:284417
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Lower limb spasticity, Oromotor apraxia, Seizure, Spasticity, Paraparesis, Ataxia, ... OMIM:617854
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Chorea, Cerebral palsy, Bilateral tonic-clonic seizure, ... OMIM:617600
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Seizure, Tremor, Ataxia, Abnormal pyramidal... OMIM:618060
Hyperekplexia 3
Hypertonia, Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Non-Specific Early-Onset Epileptic Encephalopathy
Limb hypertonia, Seizure, Tremor, Spasticity, Involuntary movements, Rigidity, Abnormality of coo... ORPHA:442835
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Chorea, Progressive extrapyramidal muscular rigidity, Parkinsonism ... ORPHA:53351
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormality of extrapyramidal motor function, Seizure, Spasticity, Hemiplegia/hemiparesis, Myoclo... ORPHA:79279
Developmental And Epileptic Encephalopathy 101
Seizure, Opisthotonus, Myoclonus OMIM:619814
Gómez-López-Hernández Syndrome
Hydrocephalus, Anteverted nares, Short stature ORPHA:1532
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Abeta Amyloidosis, Iowa Type
Myoclonus ORPHA:324708
Gm1-Gangliosidosis, Type Iii
Seizure, Ataxia, Slurred speech, Myoclonus OMIM:230650
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Limb hypertonia, Myoclonus OMIM:607196
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Gaucher Disease, Type Iii
Spastic paraparesis, Generalized myoclonic seizure, Ataxia, Myoclonus OMIM:231000
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Upper motor neuron dysfu... ORPHA:204
Late Infantile Neuronal Ceroid Lipofuscinosis
Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Cortical myoclonus, ... ORPHA:168491
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Optic atrophy, Pachygyria, Short stature OMIM:618174
Sandhoff Disease, Infantile Form
Seizure, Spasticity, Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seiz... ORPHA:309155
Dystonia 34, Myoclonic
Head tremor, Hand tremor, Torticollis, Myoclonus OMIM:619724
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Type II lissencephaly OMIM:614830
Huntington Disease
Bradykinesia, Babinski sign, Chorea, Seizure, Poor fine motor coordination, Involuntary movements... ORPHA:399
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Seizure, Generalized-onset seizure, Spasticity, Febrile status epilepticus, Tonic seizure, Febril... OMIM:612949
Pontocerebellar Hypoplasia, Type 2E
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Spasticity, ... OMIM:615851
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Short stature OMIM:303350
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Posttransplant Acute Limbic Encephalitis
Seizure, Ataxia, Myoclonus ORPHA:163921
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
D-Glyceric Aciduria
Chorea, Seizure, Spasticity, Myoclonus ORPHA:941
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Polymicrogyria, Abnormal nasal morphology, Depressed nasal bridge ORPHA:83473
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Myelomeningocele, In... ORPHA:1914
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Paroxysmal dyskinesia, Babinski sign, Chorea, Spasticity, Athetosis, Blepharospasm, Involuntary m... OMIM:617282
Riboflavin Transporter Deficiency
Seizure, Tremor, Ataxia, Myoclonus ORPHA:97229
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Oculomotor apraxia, Apraxia, Seizure, Ataxia, Parkinsonism, Myoclonus ORPHA:1020
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Epileptic spasm, Appendicular spasticity, Seizure, Agenesis of corpus callosum, Myoclonus OMIM:617669
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Rigidity, Myoclonus OMIM:600795
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Facial-lingual fasciculations, Spasticity, Tonic seizure, Bilateral t... OMIM:617281
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Gerstmann-Straussler-Scheinker Syndrome
Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia ORPHA:356
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Seizure, Spasticity, Vocal cord paralysis, Agenesis of corpus callosum, Myoclonu... ORPHA:500144
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Erra... ORPHA:501
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Spinocerebellar Ataxia Type 13
Bradykinesia, Limb ataxia, Torticollis, Seizure, Titubation, Gait ataxia, Myoclonus, Clumsiness ORPHA:98768
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic gait, Babinski sign, Paroxysmal dyskinesia, Seizure, Spastic paraplegia, Ataxia, Myoclonu... OMIM:620538
Multiple Mitochondrial Dysfunctions Syndrome 1
Focal-onset seizure, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Neonatal... OMIM:605711
Diencephalic Syndrome
Hydrocephalus, Optic atrophy ORPHA:1672
Pyridoxal Phosphate-Responsive Seizures
Status epilepticus, Seizure, Hypertonia, Myoclonus ORPHA:79096
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Hypertonia, Tremor, Gait ataxia, Intention tremor, Ataxia, Myoclonus, Dysmetria OMIM:616505
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Apraxia, Bilateral tonic-... OMIM:254780
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Myoclonus OMIM:619060
D-Glyceric Aciduria
Appendicular spasticity, Seizure, Spasticity, Myoclonus, Bilateral tonic-clonic seizure, Opisthot... OMIM:220120
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Alexander Disease Type Ii
Babinski sign, Spasticity, Rigidity, Ataxia, Spastic paraparesis, Palatal tremor ORPHA:363722
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Abnormal pyramidal sign, Involuntary movements, Dysmetria, Myoclonus OMIM:619780
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Hydrocephalus, Type II lissencephaly, Intrauterine growth retardation, Ventriculom... ORPHA:272
Hyperekplexia 2
Hypertonia, Exaggerated startle response, Myoclonus OMIM:614619
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism, Short stature, Azoospermia ORPHA:2183
Kleeblattschaedel
Hydrocephalus OMIM:148800
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Seizure, Myoclonus OMIM:616158
Aicardi-Goutieres Syndrome 4
Convex nasal ridge, Hydrocephalus, CSF lymphocytic pleiocytosis, Intrauterine growth retardation,... OMIM:610333
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Type II lissencephaly, Ventriculomegaly ORPHA:324416
Developmental And Epileptic Encephalopathy 72
Infantile spasms, Hyperkinetic movements OMIM:618374
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Simplified gyral pattern OMIM:619301
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Seizure, Intention tremor, Myoc... ORPHA:466722
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Seizure, Spasticity, Lateral ventricle dilatation, Myoclonus ORPHA:3078
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Poor fine motor coordination, Poor motor coordination, Bilateral tonic-clonic seizure, M... ORPHA:79264
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Wide nasal bridge, Underdeveloped nasal alae, Short stature ORPHA:1516
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... OMIM:616212
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Febrile seizu... ORPHA:64280
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Simplified gyral pattern OMIM:619302
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Bilateral tonic-clonic seizure, Opisthotonus, Myoclonus, Status epilepticus, Tetraparesis OMIM:616672
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Pachygyria, Lissencephaly ORPHA:300573
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Aganglionic megacolon OMIM:304100
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Abnormality of extrapyramidal motor function, Seizure, Spasticity, Ataxia, Myoclonus OMIM:614299
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Oculomotor apraxia, Tongue fasciculations, Seizure, Spasticity, Spastic paraplegia, A... OMIM:614969
3-Methylglutaconic Aciduria Type 7
Hypertonia, Abnormality of extrapyramidal motor function, Seizure, Spasticity, Progressive extrap... ORPHA:445038
Optic Pathway Glioma
Hydrocephalus, Optic atrophy, Papilledema, Growth delay ORPHA:2086
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocep... OMIM:616034
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Cog8-Cdg
Seizure, Ataxia, Myoclonus ORPHA:95428
Valinemia
Hyperkinetic movements OMIM:277100
Juvenile Sialidosis Type 2
Generalized myoclonic seizure, Lower limb spasticity, Seizure, Spasticity, Ataxia, Myoclonus, Dys... ORPHA:93399
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Seizure, Tremor, Rigidity, Choreoathetosis OMIM:233910
Peho Syndrome
Seizure, Myoclonus OMIM:260565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Polymicrogyria, Type II lissencephaly, Optic nerve hypoplasia OMIM:615181
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus, Optic atrophy OMIM:248000
Neuraminidase Deficiency
Seizure, Slurred speech, Dysmetria, Myoclonus OMIM:256550
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Growth delay, Neonatal death, Intra... ORPHA:85284
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Seizure, Myoclonus OMIM:614462
Intellectual Developmental Disorder, X-Linked 30
Short nose, Hydrocephalus, Anteverted nares, Short stature, Prominent nasal bridge OMIM:300558
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma, Papilledema OMIM:260500
Unilateral Polymicrogyria
Focal-onset seizure, Generalized tonic seizure, Seizure, Infantile spasms, Poor fine motor coordi... ORPHA:268943
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Choanal atresia OMIM:612247
Developmental And Epileptic Encephalopathy 2
Generalized myoclonic seizure, Infantile spasms, Seizure, Generalized-onset seizure, Myoclonus, M... OMIM:300672
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Tongue fasciculations, Seizure, Neonatal death, Myoclonus OMIM:614922
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Adenylosuccinase Deficiency
Seizure, Spasticity, Gait ataxia, Opisthotonus, Myoclonus, Hemiplegia OMIM:103050
Adult-Onset Cervical Dystonia, Dyt23 Type
Head tremor, Limb tremor, Torticollis, Myoclonus ORPHA:420492
Glucocorticoid Deficiency 2
Focal motor seizure, Myoclonic seizure, Spastic tetraparesis, Myoclonus OMIM:607398
Combined Oxidative Phosphorylation Deficiency 57
Seizure, Neonatal death, Myoclonus OMIM:620167
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Hydrocephalus, Anteverted nares, Ventriculomegaly, Wide nasal bridge OMIM:618577
Fried Syndrome
Hydrocephalus ORPHA:85335
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal base, Wide nasal bridge OMIM:616521
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Depressed nasal bridge OMIM:602501
Sialidosis Type 1
Seizure, Tremor, Ataxia, Myoclonus, Slurred speech ORPHA:812
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Myoclonic spasms ORPHA:94090
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Babinski sign, Spasticity, Intention tremor, Rigidity, Parkinsonism, Myoclonus, Abn... ORPHA:171695
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Seizure, Parkinsonism with favorable response to dopaminergic medication, Tremor, S... ORPHA:199351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Simplified gyral pattern... OMIM:613153
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus, Absence seizure with eyelid myoclonia,... OMIM:613839
Den Hoed-De Boer-Voisin Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... OMIM:619229
Mepan Syndrome
Chorea, Spasticity, Ataxia, Myoclonus ORPHA:508093
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Seizure, Neonatal death, Ataxia, Myoclonus OMIM:619167
Stiff-Person Syndrome
Frequent falls, Exaggerated startle response, Myoclonic spasms, Rigidity, Opisthotonus OMIM:184850
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of the anterior pituitary, Abnormality of in... ORPHA:449563
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Short stature, Abnormality of neuronal migration, Holoprosencephaly... ORPHA:93274
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Wide nasal bridge OMIM:618302
Microcephaly-Capillary Malformation Syndrome
Seizure, Spastic tetraparesis, Infantile spasms, Myoclonus OMIM:614261
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Spasticity, Tr... OMIM:612953
X-Linked Intellectual Disability Due To Gria3 Mutations
Babinski sign, Seizure, Spasticity, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus ORPHA:364028
Tay-Sachs Disease
Typical absence seizure, Ankle clonus, Fasciculations, Incoordination, Seizure, Decerebrate rigid... ORPHA:845
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Seizure, Focal tonic seiz... ORPHA:314655
Adams-Oliver Syndrome 2
Optic atrophy, Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation, Bulbous nose, Depress... OMIM:614219
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Fasciculations, Polyminimyoclonus, Tremor, Vocal cord paresis OMIM:619574
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microcephaly, Optic atrophy, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum OMIM:616975
Edinburgh Malformation Syndrome
Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Abnormality of neuronal migration ORPHA:1895
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Colpocephaly,... OMIM:615219
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Rhizomelia, Hydrocephalus, Depressed nasal ridge, Short stature, Intrauterine growth ... OMIM:300863
Neurodevelopmental Disorder With Spasticity And Poor Growth
Babinski sign, Oculomotor apraxia, Limb hypertonia, Seizure, Infantile spasms, Spasticity, Intent... OMIM:618076
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Baker-Gordon Syndrome
Hyperkinetic movements, Athetoid cerebral palsy, Involuntary movements, Ataxia, Choreoathetosis OMIM:618218
Coenzyme Q10 Deficiency, Primary, 1
Right hemiplegia, Seizure, Tremor, Ataxia, Myoclonus, Status epilepticus OMIM:607426
3-Methylglutaconic Aciduria, Type Viib
Hyperkinetic movements, Seizure, Tremor, Spasticity, Ataxia, Opisthotonus, Myoclonus, Choreoathet... OMIM:616271
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle, Wide nasal bridge, Depressed ... OMIM:220220
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Aganglionic megacolon ORPHA:275543
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Facial palsy OMIM:613155
Infantile Krabbe Disease
Generalized myoclonic seizure, Lower limb spasticity, Ankle clonus, Decerebrate rigidity, Seizure... ORPHA:206436
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Convex nasal ridge, Optic atrophy, Choanal atresia ORPHA:93262
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Seizure, Hyperkinetic movements, Hypertonia OMIM:236270
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Torticollis, Limb hypertonia, Athetosis, Blepharospasm, Exaggerated startle respon... OMIM:608643
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Hemangioblastoma
Hydrocephalus, Neurogenic bladder ORPHA:252054
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Hydrocephalus, Gray matter heterotopia, Intrauterine g... ORPHA:2655
Muscle-Eye-Brain Disease
Hydrocephalus, Optic atrophy, Holoprosencephaly, Meningocele ORPHA:588
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Short nose, Hydrocephalus, Short stature, Colpocephaly, Intrauterine growth retard... OMIM:619833
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Serotonin Syndrome
Hypertonia, Seizure, Tremor, Clonus, Rigidity, Myoclonus ORPHA:43116
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Japanese Encephalitis
Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ... ORPHA:79139
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Seizure, Clonus, Neonatal death, Myoclonus, Spastic tetraplegia, Status epilepticus OMIM:619055
Galloway-Mowat Syndrome 10
Myoclonus OMIM:619609
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation ORPHA:858
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Seizure, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Anteverted nares, Short nose, Short stature ORPHA:2701
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Oculomotor apraxia, Lower limb spasticity, Apraxia, Seizure, Spastic tetraparesis,... ORPHA:139396
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short nose, Hydrocephalus, Short stature, Depressed nasal bridge OMIM:241800
Krabbe Disease
Hydrocephalus, Optic atrophy, Decreased nerve conduction velocity, Increased CSF protein concentr... OMIM:245200
Intellectual Developmental Disorder, Autosomal Dominant 42
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized tonic seizure, Limb hyp... OMIM:616973
Temple Syndrome
Wide nose, Hydrocephalus, Anteverted nares, Short stature, Intrauterine growth retardation, Depre... OMIM:616222
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Seizure... ORPHA:1934
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida OMIM:207950
Temple Syndrome
Hydrocephalus, Postnatal growth retardation, Short stature ORPHA:254516
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Gait ataxia, Intention tremor, Action tremor, Myoclonus, Postural tremor OMIM:254900
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Anteverted nares, Prominent nose, Bulbous nose, Wide nasal bridge, Depressed nasal... ORPHA:2180
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Seizure, Dysdiadochokinesis, Intention tremor, Clonus, Nonprogressive cerebellar a... OMIM:301310
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Seizure, Infantile spasms, Gait ataxia, Ataxia, Myoclonus, Spastic tetraplegia OMIM:618321
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Optic atrophy ORPHA:99947
Neuroferritinopathy
Bradykinesia, Babinski sign, Resting tremor, Chorea, Blepharospasm, Involuntary movements, Parkin... ORPHA:157846
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Seizure, Tremor, Bilateral tonic-clonic seizure, Upper limb spasticity ORPHA:457240
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Occipital encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Opt... ORPHA:370959
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Chorea, Seizure, Infa... OMIM:619777
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cogwheel rigidity, Rigidity, Pa... OMIM:613135
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge ORPHA:380
Dystonia-Aphonia Syndrome
Seizure, Myoclonus ORPHA:412217
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Myoclonus OMIM:168601
Metatropic Dysplasia
Hydrocephalus, Severe short stature, Depressed nasal bridge ORPHA:2635
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Abnormal auditory evoked potentials, Short stature OMIM:109120
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Hydrocephalus, Dandy-Walker malformation, Thick nasal alae, Ventriculomegaly ORPHA:163961
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypertonia, Focal-onset seizure, Ankle clonus, Seizure, Infantile spasms, Exaggerated startle res... OMIM:620423
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Hydrocephalus, Anteverted nares, Depressed nasal bridge, Short columella ORPHA:171839
Crouzon Syndrome
Hydrocephalus, Convex nasal ridge, Optic atrophy, Choanal atresia ORPHA:207
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Rhizomelia, Hydrocephalus, Depressed nasal ridge, Short stature, Intrauterine growth ... ORPHA:163966
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly ORPHA:89844
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus OMIM:560000
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Holoprosencephaly, Intraut... ORPHA:1908
Fatal Familial Insomnia
Ataxia, Myoclonus OMIM:600072
Intellectual Developmental Disorder, Autosomal Dominant 70
Low hanging columella, Hydrocephalus, Optic nerve hypoplasia, Broad nasal tip, Wide nasal bridge OMIM:620157
Angelman Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Tremor, Atypical absence seizure, Atoni... ORPHA:72
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Ataxia, Parkinsonism OMIM:619738
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Seizure, Hyperkinetic movements, Tremor OMIM:300957
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Optic atrophy, Hydrocephalus, Polymicrogyria, Ventriculomegaly, Depressed nasal bridge ORPHA:60040
Molybdenum Cofactor Deficiency, Complementation Group B
Hypertonia, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Neonatal death, Opisthoton... OMIM:252160
Combined Oxidative Phosphorylation Deficiency 14
Seizure, Myoclonic seizure, Myoclonus OMIM:614946
3C Syndrome
Optic atrophy, Short nose, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malformation... ORPHA:7
Orofaciodigital Syndrome Type 3
Spasticity, Focal seizure with eyelid myoclonia, Oculomotor apraxia, Myoclonus ORPHA:2752
Congenital Sialidosis Type 2
Seizure, Spasticity, Ataxia, Myoclonus, Dysmetria ORPHA:93400
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Multiple Sulfatase Deficiency
Optic atrophy, Hydrocephalus, Anteverted nares, Short stature, Abnormality of peripheral nerve co... ORPHA:585
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly OMIM:614120
Glutathionuria
Gray matter heterotopia OMIM:231950
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Appendicular spasticity, Bilateral tonic-clonic seizure, Gait ataxi... OMIM:620451
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Seizure, Tremor, Ataxia, Myoclonus ORPHA:98794
Albers-Schönberg Osteopetrosis
Hydrocephalus, Optic atrophy, Facial palsy, Short stature ORPHA:53
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Depressed nasal ridge, Communicating hydrocephalus ORPHA:1861
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Hypogonadism OMIM:601794
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Seizure, Myoclonus ORPHA:70595
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Polymicrogyria, Dandy-Walker malformation, Intrauterine growth re... OMIM:225790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heteroto... OMIM:614643
Infantile Sialic Acid Storage Disease
Hydrocephalus, Anteverted nares OMIM:269920
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly, Broad nasal tip, Short stature OMIM:609757
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele OMIM:164180
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Joubert Syndrome 30
Polymicrogyria, Gray matter heterotopia OMIM:617622
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Babinski sign, Hyperkinetic movements, Seizure, Spasticity, Gait ataxia, Ataxia OMIM:620089
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Dilated third ven... OMIM:613154
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Brain-Lung-Thyroid Syndrome
Apraxia, Chorea, Incoordination, Intention tremor, Involuntary movements, Ataxia, Agenesis of cor... ORPHA:209905
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Abnormal cortical gyration, Hydrocephalus, Growth delay, Intrauterine growth retar... OMIM:614576
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Irregular menstruation, Disproportionate short-limb short stature, Hydrocephalus, ... OMIM:101800
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Joubert Syndrome
Aganglionic megacolon, Encephalocele, Hydrocephalus, Polymicrogyria, Anteverted nares, Abnormalit... ORPHA:475
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Stillbirth OMIM:276950
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Desmosterolosis
Abnormality of the nose, Short nose, Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, G... ORPHA:35107
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Encephalocele, Hydrocephalus, Anteverted nares, Abnormality of neuronal mi... ORPHA:2318
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele, Optic disc pallor OMIM:614195
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)