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
Myoclonus, Seizure OMIM:217200
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor, Involuntary movements OMIM:611092
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure OMIM:615127
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Atonic seizure, Tremor OMIM:612437
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus... OMIM:162350
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Hand tremor, Myoclonus ORPHA:86814
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Fo... OMIM:615400
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic... OMIM:616540
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor OMIM:616187
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Progressive Myoclonic Epilepsy Type 1
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:618357
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... OMIM:254770
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Limb ataxia, Upper motor neuron ... ORPHA:95434
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia OMIM:125370
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Epilepsy, Progressive Myoclonic, 11
Seizure, Rigidity, Myoclonus, Ataxia, Intention tremor OMIM:618876
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:314250
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater... OMIM:613721
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Myoclonus, Hand tremor, Bilateral tonic-clonic seizure, Focal hemifacial clo... OMIM:608105
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... OMIM:204300
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Peripheral axonal neuropathy, Hypoplasia of the corpus callosum,... OMIM:600638
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Myoclonus, Generalize... OMIM:618587
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure OMIM:613608
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Chorea, Spasticity, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Infant... OMIM:616139
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, Seizure, Ataxia OMIM:600143
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Seizure, Myoclonus, Generalized myoclonic seizure, Ataxia OMIM:545000
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, Myoclonus, Abnormality of extrapyramida... ORPHA:79262
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Geniospasm 1
Chin myoclonus OMIM:190100
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Atonic seizure... OMIM:616421
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Torticollis, Ataxia, Babins... OMIM:607317
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Focal hemiclonic seizure, Bilateral ton... OMIM:616981
Developmental And Epileptic Encephalopathy 32
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo... OMIM:616366
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... ORPHA:1941
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Clumsiness, Myoclonus, Genera... ORPHA:2590
Hereditary Geniospasm
Chin myoclonus, Intention tremor ORPHA:53372
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par... OMIM:605407
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... OMIM:615362
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Status ... ORPHA:307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:614018
Myoclonus-Dystonia Syndrome
Limb myoclonus, Spinal myoclonus, Torticollis, Myoclonus ORPHA:36899
Combined Saposin Deficiency
Generalized clonic seizure, Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations OMIM:611721
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Benign Familial Neonatal Epilepsy
Limb myoclonus, Generalized tonic seizure, Focal-onset seizure, Focal clonic seizure, Status epil... ORPHA:1949
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Seizure, Ataxia OMIM:204500
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... OMIM:613855
Early Myoclonic Encephalopathy
Focal seizure with eyelid myoclonia, Focal motor seizure, Myoclonus, Focal tonic seizure, General... ORPHA:1935
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor ORPHA:401901
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Frequent falls OMIM:619647
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Agenesis of corpus callosum, Abnormality of the anterior co... OMIM:617542
Epilepsy, Progressive Myoclonic, 8
Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Bilateral tonic-clonic seizure, Action m... OMIM:616230
Phosphoserine Aminotransferase Deficiency
Myoclonus, Seizure, Hypertonia OMIM:610992
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myoclonic seizure, Bilater... ORPHA:2382
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Tremor, Tetraparesis OMIM:615924
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babinski sign OMIM:606777
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, Paraparesis,... ORPHA:726
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Chorea, Focal-onset seizure, Myoclonus, Choreoathetosis, Status epilepticus wi... OMIM:619317
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Seizure, Hemiparesis, Myoclonus, Focal tonic seizure, Statu... ORPHA:99802
Progressive Myoclonic Epilepsy With Dystonia
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Ge... ORPHA:352596
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Poor hand-eye coordination, Genera... ORPHA:86909
Cerebral Creatine Deficiency Syndrome 2
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Myoclonus, Para... OMIM:612736
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Myoclonus, Choreoathetosis, Spastic tetraparesis OMIM:617065
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Developmental And Epileptic Encephalopathy 16
Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus OMIM:615338
Dystonia 11, Myoclonic
Myoclonus, Tremor, Torticollis OMIM:159900
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Dysmetria OMIM:619191
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Choreoathetosis, Tremor, Hypertonia OMIM:261630
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Myoclonus, Status epilepticus, Spastic tetraplegia OMIM:618285
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Spasticity, Extrapyramidal dyskinesia, Seizure, Hemiparesis, Apraxia, Myoclonus, Choreoat... ORPHA:71277
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements OMIM:618425
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Myoclonus, Focal tonic seizure, Hypertonia, Limb tremor OMIM:300699
Continuous Spikes And Waves During Sleep
Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Clumsiness, Focal awa... ORPHA:725
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Degeneration of anterior horn cells, Generalized myoclonic seizure, My... OMIM:159950
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Optic nerve hypoplasia, Pachygyria, Abnormality of the anterior commissure ORPHA:572013
Dystonia 23
Myoclonus, Head tremor, Torticollis OMIM:614860
Developmental And Epileptic Encephalopathy 92
Spasticity, Myoclonus, Seizure, Ataxia OMIM:617829
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... ORPHA:263516
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb hypertonia, Fr... ORPHA:254343
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Gait ataxia, Spasticity, Typical absence seizure, Myoclonus, Focal hemiclonic ... OMIM:620145
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Hydrocephalus, Dysgyria, Type II lissencephaly, Occipital encephalocele ORPHA:352682
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Lissencephaly, Agyria, Pachygyria OMIM:300067
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria ORPHA:101029
Pontocerebellar Hypoplasia Type 4
Myoclonus, Seizure, Hypertonia ORPHA:166063
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Mitochondrial Complex I Deficiency, Nuclear Type 12
Seizure, Generalized myoclonic seizure, Choreoathetosis, Myoclonus, Ataxia, Bilateral tonic-cloni... OMIM:301020
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Seizure, Spastic tetraplegia, Myoclonus, Ataxia, Epileptic spasm OMIM:619971
Striatonigral Degeneration, Infantile, Mitochondrial
Chorea, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Frequent falls, Clonus... OMIM:500003
Dravet Syndrome
Poor fine motor coordination, Generalized clonic seizure, Epilepsia partialis continua, Focal-ons... ORPHA:33069
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Myoclonus, Choreoathetosis, Tonic seizure, Bilateral tonic-clonic sei... OMIM:618497
Lissencephaly 3
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... OMIM:611603
Dystonia 6, Torsion
Myoclonus, Torticollis OMIM:602629
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Limb tremor OMIM:256731
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Optic atrophy ORPHA:1538
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615938
Creutzfeldt-Jakob Disease
Gait ataxia, Myoclonus, Hemiparesis, Extrapyramidal muscular rigidity OMIM:123400
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria OMIM:604213
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Abnormal pyramidal sign, Generalized tonic seizure, Seizure, Myoclo... OMIM:612016
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity, Bilateral tonic-clonic seizure with ... OMIM:619028
Glycine Encephalopathy
Myoclonus, Seizure, Agenesis of corpus callosum OMIM:605899
Spinocerebellar Ataxia Type 14
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98763
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Spastic diplegia, Myoclonus, Ataxia, Babinski sign, Bilateral tonic-clonic seizure OMIM:619065
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Myoclonus, Seizure, Hypertonia OMIM:610090
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... ORPHA:208447
Epilepsy, Early-Onset, Vitamin B6-Dependent
Myoclonic seizure, Myoclonus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Hype... OMIM:617290
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Thyrocerebrorenal Syndrome
Myoclonus, Slurred speech, Seizure, Nonprogressive cerebellar ataxia ORPHA:3327
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615937
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s... OMIM:610539
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus OMIM:609056
Developmental And Epileptic Encephalopathy 99
Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... OMIM:619606
Spinocerebellar Ataxia 19
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Progress... OMIM:607346
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor OMIM:619651
Congenital Disorder Of Glycosylation, Type In
Spasticity, Myoclonus, Seizure, Ataxia OMIM:612015
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Pontocerebellar Hypoplasia, Type 4
Spasticity, Myoclonus, Seizure, Hypertonia OMIM:225753
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Seizure, Myoclonus, Tremor, Progressive cerebellar ataxia ORPHA:139485
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Myoclonus, Seizure OMIM:618251
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Myoclonic seizure, Chorea, Spasticity, Seizure, Myoclonus, Focal impaired awareness seizure, Hype... OMIM:614254
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge OMIM:209970
Thyrocerebroretinal Syndrome
Myoclonus, Slurred speech, Seizure, Ataxia OMIM:274240
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Generalized-onset seizure, Spasticity, Seizure, Myoclonic s... ORPHA:79263
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Spastic gait, Parkinsonism, Myoclonus, Ataxia, Lower limb spasticity ORPHA:306511
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Generalized myoclonic seizure... OMIM:614487
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Developmental And Epileptic Encephalopathy 23
Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal impaired awarenes... OMIM:615859
Alexander Disease
Spasticity, Seizure, Palatal tremor, Ataxia, Babinski sign, Dysmetria OMIM:203450
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus, Bilateral tonic-c... OMIM:204200
Juvenile Huntington Disease
Gait ataxia, Chorea, Seizure, Rigidity, Myoclonus, Ataxia, Progressive cerebellar ataxia, Bradyki... ORPHA:248111
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Dy... OMIM:607136
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor OMIM:620158
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Lateral ventricle dilatation, Primary microcephaly, Simplifie... ORPHA:300570
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Parkinsonism, Limb apraxia, Myoclonus, Tremor, Involuntary moveme... ORPHA:454887
Hsd10 Disease
Seizure, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Spastic paraparesis, Tremor ORPHA:391417
Developmental And Epileptic Encephalopathy 1
Erratic myoclonus, Abnormal pyramidal sign, Focal motor seizure, Focal-onset seizure, Generalized... OMIM:308350
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Myoclonus, Seizure, Ataxia OMIM:256730
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology ORPHA:353253
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus, Seizure OMIM:604218
Familial Dyskinesia And Facial Myokymia
Chorea, Myoclonus, Limb hypertonia, Resting tremor ORPHA:324588
Hyperekplexia 4
Myoclonus, Seizure, Hypertonia OMIM:618011
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Spastic tetraplegia, Eyelid myoclonus, Ataxia, Tonic seizure, Bilateral tonic-... OMIM:619913
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... ORPHA:240103
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Myoclonus, Torticollis, Hand tremor, Vocal tremor ORPHA:420485
Developmental And Epileptic Encephalopathy 49
Spasticity, Myoclonus, Seizure OMIM:617281
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:289266
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Resting tremor, Limb hypertonia, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... OMIM:606703
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Seizure, Truncal ataxia, Myoclonus, Ataxia, Dysmetria, Head titubation, Agenesis of corpus callosum OMIM:250620
Developmental And Epileptic Encephalopathy 68
Spasticity, Exaggerated startle response, Myoclonus, Status epilepticus, Clonus OMIM:618201
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Dysdiadochokinesis, Spastic dysarthria, Oculomotor apraxia, Generalized myoclonic sei... ORPHA:313772
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Apraxia, Myoclonus, Seizure, Babinski sign OMIM:618193
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Gait ataxia, Focal-onset seizure, Myoclonus, Ataxia, Tremor, Hypertonia, Bilat... OMIM:619092
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus OMIM:617507
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Seizure, Resting tremor, Rigidity, Myoclonus, Involuntary m... ORPHA:391411
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Chorea, Seizure, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Choreoathetos... ORPHA:13
Foxg1 Syndrome
Spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, Status epilepticus, Bilateral tonic-... ORPHA:561854
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Schindler Disease, Type I
Spasticity, Myoclonus, Seizure OMIM:609241
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Myoclonus, Seizure, Ataxia OMIM:620094
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Generalized myoclonic se... ORPHA:352582
Band Heterotopia
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Congenital Hydrocephalus
Ventriculomegaly, Abnormal cortical gyration, Optic atrophy, Hydrocephalus, Lissencephaly, Bulbou... ORPHA:2185
Paroxysmal Non-Kinesigenic Dyskinesia
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... ORPHA:98810
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia OMIM:166990
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Seizure, Myoclonus, Focal tonic seizure, Upper limb spasticity, Bilateral tonic-clonic se... ORPHA:485350
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Limb myoclonus, Postural tremor, Torticollis, Limb ataxia, Bradykinesia OMIM:619862
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Cogwheel... OMIM:619725
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... OMIM:604317
Mitochondrial Complex I Deficiency, Nuclear Type 4
Myoclonic seizure, Spasticity, Seizure, Myoclonus, Ataxia OMIM:618225
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Myoclonus, Torticollis, Tremor OMIM:617284
Myoclonus, Intractable, Neonatal
Chorea, Myoclonus, Athetosis, Clonic seizure OMIM:617235
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Babinski sign, Spastic tet... ORPHA:225154
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplastic anterior commissure, Lissencephaly, Microcephaly, Pachygyria, Hypoplasia of the corpu... OMIM:618325
Fanconi Anemia, Complementation Group R
Hydrocephalus, Growth delay OMIM:617244
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor OMIM:607876
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Seizure, Lateral ventricle dilatation, Apraxia, Myoclonus, Babinski sign, Abnormal up... OMIM:221770
Hyperekplexia 1
Exaggerated startle response, Seizure, Myoclonus, Frequent falls, Hypertonia, Nocturnal seizures OMIM:149400
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hereditary Hyperekplexia
Spasticity, Seizure, Rigidity, Myoclonus, Ataxia, Hypertonia, Fasciculations ORPHA:3197
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Simplified gyral pattern, Hydrocephalus, Optic atrophy OMIM:619470
Kufor-Rakeb Syndrome
Spasticity, Seizure, Parkinsonism, Rigidity, Myoclonus, Torticollis, Paraparesis, Parkinsonism wi... OMIM:606693
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Seizure, Parkinsonism, Truncal ataxia, Rigidity, Myoclonu... OMIM:618877
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... ORPHA:397946
Alzheimer Disease 3
Seizure, Apraxia, Abnormality of extrapyramidal motor function, Myoclonus, Babinski sign, Spastic... OMIM:607822
Nipah Virus Disease
Myoclonus, Tremor, Seizure ORPHA:99825
Early-Onset Lafora Body Disease
Spastic tetraparesis, Myoclonus, Seizure, Ataxia ORPHA:324290
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Seizure, Lateral ventr... OMIM:619847
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... ORPHA:101150
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Limb hypertonia, Focal-onset seizure, Myoclonic spasms, Generalized myoclonic seizure, Rigidity, ... OMIM:614498
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Myoclonus, Athetosis, Seizure OMIM:618241
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Focal-onset seizure, Myoclonus, Tetraparesis, Infantile spasms OMIM:618972
Biemond Syndrome Type 2
Short stature, Hypogonadism, Hydrocephalus, Delayed puberty, Hypogonadotropic hypogonadism ORPHA:141333
Childhood-Onset Spasticity With Hyperglycinemia
Spastic diplegia, Progressive spasticity, Spastic dysarthria, Myoclonus, Ataxia, Babinski sign, H... ORPHA:401866
Alexander Disease Type I
Spasticity, Abnormal pyramidal sign, Seizure, Palatal tremor, Ataxia ORPHA:363717
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Seizure ORPHA:397933
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Epilepsy, Progressive Myoclonic, 10
Spasticity, Spastic ataxia, Seizure, Spastic tetraplegia, Myoclonus, Generalized myoclonic seizur... OMIM:616640
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Agenesis of corpus callosum OMIM:312170
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Status epilepticus, Poor mo... ORPHA:363400
Spinocerebellar Ataxia Type 36
Limb myoclonus, Truncal ataxia, Limb ataxia, Hand tremor, Ataxia, Babinski sign, Dysmetria, Head ... ORPHA:276198
Lissencephaly 5
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Spinocerebellar Ataxia Type 26
Seizure, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Babinski sign, Progress... ORPHA:101112
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonic seizure, Myoclonus, Hypertonia OMIM:618240
Spinocerebellar Ataxia 13
Gait ataxia, Spasticity, Abnormal pyramidal sign, Myoclonus, Limb ataxia, Limb dysmetria, Progres... OMIM:605259
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Seizure, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetos... ORPHA:101
Subependymal Nodular Heterotopia
Limb myoclonus, Seizure, Focal-onset seizure, Focal aware seizure, Partial agenesis of the corpus... ORPHA:101030
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Seizure, Dysdiadochokinesis, Myoclonus, Ataxia, Babinski sign, Dysmetria, Hypertonia, Intention t... OMIM:618356
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus OMIM:619057
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Seizure, Lateral ventricle dilatation, Clumsiness, Myoclonus, Paraparesis, Ataxia, Lo... OMIM:617854
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Ataxia-Telangiectasia-Like Disorder
Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Ataxia, Dysmetria, Freque... ORPHA:251347
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Seizure, Truncal ataxia, Myoclonus, Ataxia, Babinski sign OMIM:252011
Dystonia 26, Myoclonic
Myoclonus, Blepharospasm, Torticollis OMIM:616398
Holoprosencephaly 5
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... OMIM:609637
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Narp Syndrome
Seizure, Myoclonic spasms, Progressive gait ataxia, Ataxia, Babinski sign ORPHA:644
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Palatal tremor, Truncal ataxia, Spastic paraparesis OMIM:113610
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Spasticity, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Involuntary... OMIM:617493
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Myoclonus, Atonic seizure, Focal impaired awareness seizure, Infantile... ORPHA:411986
Atypical Rett Syndrome
Gait ataxia, Limb myoclonus, Spasticity, Seizure, Apraxia, Generalized myoclonic seizure, Tremor,... ORPHA:3095
Spinocerebellar Ataxia 2
Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomotor apraxia, Myoclonus, Rig... OMIM:183090
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Myoclonus, Seizure OMIM:300673
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus, Exaggerated startle response, Hypertonia OMIM:614618
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Resting tremor, Myoclonus, Parkinsonism with favorable response to dopamin... ORPHA:53351
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Chorea, Abnormal pyramidal sign, Seizure, Spastic dysarthria, Clumsiness, Myoclonus,... ORPHA:282166
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Seizure, Lateral ventricle dilatation, Myoclonus, Spastic tetraparesis, Hypertonia, Epileptic spasm ORPHA:284417
Developmental And Epileptic Encephalopathy 101
Myoclonus, Seizure, Opisthotonus OMIM:619814
Developmental And Epileptic Encephalopathy 36
Anteverted nares, Hydrocephalus, Optic atrophy OMIM:300884
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Myocl... ORPHA:79279
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... ORPHA:99
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Chorea, Cerebral palsy, Myoclonus, Bilateral tonic-clonic seizure, Focal impai... OMIM:617600
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Generalized myoclonic seizure, Ataxia OMIM:231000
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Seizure, Limb hypertonia, Rigidity, Myoclonus, Status epilepticus, Ataxia, Tremor, In... ORPHA:442835
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Frontal ence... ORPHA:1528
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Abeta Amyloidosis, Iowa Type
Myoclonus ORPHA:324708
Gómez-López-Hernández Syndrome
Short stature, Hydrocephalus, Anteverted nares ORPHA:1532
Microcephaly, Amish Type
Myoclonus, Partial agenesis of the corpus callosum, Limb hypertonia OMIM:607196
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Abnormal pyramidal sign, Seizure, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, T... OMIM:618060
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp... ORPHA:204
Succinic Semialdehyde Dehydrogenase Deficiency
Seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizur... OMIM:271980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:614830
Dystonia 34, Myoclonic
Myoclonus, Head tremor, Hand tremor, Torticollis OMIM:619724
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Short stature OMIM:303350
Pontocerebellar Hypoplasia, Type 2E
Myoclonic seizure, Spasticity, Spastic tetraplegia, Myoclonus, Tonic seizure, Hypertonia, Infanti... OMIM:615851
Sandhoff Disease, Infantile Form
Myoclonic seizure, Spasticity, Exaggerated startle response, Seizure, Myoclonus, Bilateral tonic-... ORPHA:309155
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Spastic... OMIM:612949
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Myoclonus, Babinski sign OMIM:600795
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Cortical myoclonus, Spasticity, Typical absence seizure, Seizure, Focal-onset ... ORPHA:168491
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Riboflavin Transporter Deficiency
Myoclonus, Tremor, Seizure, Ataxia ORPHA:97229
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Pyridoxal Phosphate-Responsive Seizures
Myoclonus, Status epilepticus, Seizure, Hypertonia ORPHA:79096
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Optic atrophy, Hydrocephalus, Short nose, Depressed nasal bridge, Anteverted na... ORPHA:1914
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Spasticity, Blepharospasm, Rigidity, Clumsiness, Myoclonus, Ataxia, Babinski sign, Paroxy... OMIM:617282
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Depressed nasal bridge, Hydrocephalus, Polymicrogyria ORPHA:83473
D-Glyceric Aciduria
Spasticity, Myoclonus, Seizure, Chorea ORPHA:941
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Seizure, Appendicular spasticity, Myoclonus, Epileptic spasm, Agenesis of corpus callosum OMIM:617669
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements OMIM:233910
Huntington Disease
Poor fine motor coordination, Chorea, Seizure, Involuntary movements, Rigidity, Clumsiness, Myocl... ORPHA:399
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Seizure, Myoclonus, Partial agenesis of the corpus callosum, Vocal cord paralysis, Ep... ORPHA:500144
Posttransplant Acute Limbic Encephalitis
Myoclonus, Seizure, Ataxia ORPHA:163921
Early-Onset Autosomal Dominant Alzheimer Disease
Seizure, Parkinsonism, Apraxia, Oculomotor apraxia, Myoclonus, Ataxia, Hypertonia ORPHA:1020
Lafora Disease
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Spasticity, Seizure, Focal-on... ORPHA:501
Spinocerebellar Ataxia Type 13
Gait ataxia, Seizure, Titubation, Myoclonus, Clumsiness, Torticollis, Limb ataxia, Bradykinesia ORPHA:98768
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Apraxia, Limb ataxia,... OMIM:137440
D-Glyceric Aciduria
Spasticity, Seizure, Spastic tetraplegia, Myoclonus, Focal clonic seizure, Status epilepticus, Bi... OMIM:220120
Diencephalic Syndrome
Hydrocephalus, Optic atrophy ORPHA:1672
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Abnormality of extrapyramidal motor function, Limb myoclonus ORPHA:356
Multiple Mitochondrial Dysfunctions Syndrome 1
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spastic tetraparesi... OMIM:605711
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Myoclonus OMIM:619060
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure with focal onset, Focal sensory seizure with visual features, Apra... OMIM:254780
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Alexander Disease Type Ii
Spasticity, Palatal tremor, Rigidity, Ataxia, Babinski sign, Spastic paraparesis ORPHA:363722
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Dysmetria, Myoclonus, Abnormal pyramidal sign, Involuntary movements OMIM:619780
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Optic atrophy, Hydrocephalus, Type II lissencephaly, Intrauterine growth retard... ORPHA:272
Kleeblattschaedel
Hydrocephalus OMIM:148800
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Gait ataxia, Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor, Hypertonia, Intention tremor OMIM:616505
Hyperekplexia 2
Myoclonus, Exaggerated startle response, Hypertonia OMIM:614619
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Ventriculomegaly ORPHA:324416
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Azoospermia, Hypergonadotropic hypogonadism, Short stature ORPHA:2183
Pettigrew Syndrome
Hydrocephalus, Prominent nose, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus OMIM:304100
Aicardi-Goutieres Syndrome 4
Convex nasal ridge, Ventriculomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Intrauterine g... OMIM:610333
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements, Infantile spasms OMIM:618374
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Seizure, Lateral ventricle dilatation, Myoclonus, Hypertonia ORPHA:3078
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Myoclonus, Seizure OMIM:616158
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Seizure, Myoclonus, Babinski sign, Scissor gait, Lower limb spast... ORPHA:466722
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Underdeveloped nasal alae, Short stature, Hydrocephalus, Wide nasal bridge ORPHA:1516
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Lissencephaly, Pachygyria, Polymicrogyria ORPHA:300573
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Ventriculomegaly, Optic atrophy, Simplified gyral pattern, Communicating... OMIM:615219
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Pachygy... OMIM:616212
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure, Tetraparesis, Opisthotonus OMIM:616672
Pontocerebellar Hypoplasia, Type 15
Simplified gyral pattern, Hydrocephalus OMIM:619302
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Seizure, Parkinsonism, Myoclonic spasms, Clumsiness, Poor motor coo... ORPHA:79264
Valinemia
Hyperkinetic movements OMIM:277100
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Seizure, Myoclonus, Generalized myoclonic seizure, Multifocal seizures... OMIM:300672
Optic Pathway Glioma
Growth delay, Papilledema, Hydrocephalus, Optic atrophy ORPHA:2086
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia OMIM:614299
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Generalized-onset seizure, Focal-onset seizure, Myoclonus, Paralysis, Status epilepticus ORPHA:83601
3-Methylglutaconic Aciduria Type 7
Spasticity, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Myocl... ORPHA:445038
Pontocerebellar Hypoplasia, Type 7
Spasticity, Seizure, Oculomotor apraxia, Myoclonus, Choreoathetosis, Ataxia, Spastic paraplegia, ... OMIM:614969
Leber Congenital Amaurosis
Encephalocele, Abnormality of neuronal migration ORPHA:65
Cog8-Cdg
Myoclonus, Seizure, Ataxia ORPHA:95428
Juvenile Sialidosis Type 2
Spasticity, Seizure, Myoclonus, Generalized myoclonic seizure, Ataxia, Dysmetria, Lower limb spas... ORPHA:93399
Bresek Syndrome
Convex nasal ridge, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Growth delay, N... ORPHA:85284
Peho Syndrome
Myoclonus, Seizure OMIM:260565
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Neuraminidase Deficiency
Dysmetria, Myoclonus, Slurred speech, Seizure OMIM:256550
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Papilledema, Hydrocephalus OMIM:260500
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Hydrocephalus, Optic nerve hypoplasia, Polymicrogyria OMIM:615181
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Hyperglycinemia, Lactic Acidosis, And Seizures
Myoclonus, Seizure, Spastic tetraplegia OMIM:614462
Sialidosis Type 1
Seizure, Myoclonus, Ataxia, Slurred speech, Tremor ORPHA:812
Intellectual Developmental Disorder, X-Linked 30
Short stature, Hydrocephalus, Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:602501
Adenylosuccinase Deficiency
Gait ataxia, Spasticity, Seizure, Myoclonus, Hemiplegia, Opisthotonus OMIM:103050
Parkinsonian-Pyramidal Syndrome
Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Myoclonus, Babinski sign, Intention ... ORPHA:171695
Fried Syndrome
Hydrocephalus ORPHA:85335
Adult-Onset Dystonia-Parkinsonism
Spasticity, Seizure, Rigidity, Eyelid apraxia, Myoclonus, Clumsiness, Parkinsonism with favorable... ORPHA:199351
Unilateral Polymicrogyria
Poor fine motor coordination, Generalized tonic seizure, Seizure, Spastic tetraplegia, Focal-onse... ORPHA:268943
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Simplified gyral pattern, Agyria, Hydrocephalus, Lissencephaly, Type II lissenc... OMIM:613153
Microcephaly-Capillary Malformation Syndrome
Spastic tetraparesis, Myoclonus, Seizure OMIM:614261
Mepan Syndrome
Spasticity, Myoclonus, Ataxia, Chorea ORPHA:508093
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Abnormality of infra-orbital nerve, Abnormal fifth cranial... ORPHA:449563
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Kohlschutter-Tonz Syndrome-Like
Generalized clonic seizure, Generalized tonic seizure, Spasticity, Seizure, Lateral ventricle dil... OMIM:619229
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Wide nasal bridge, Hydrocephalus, Short nose, Anteverted nares OMIM:618577
Adult-Onset Cervical Dystonia, Dyt23 Type
Myoclonus, Head tremor, Torticollis, Limb tremor ORPHA:420492
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Choanal atresia OMIM:612247
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormality of neuronal migration, Short stature, Ventriculomegaly, Hydrocephalus,... ORPHA:93274
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Myoclonus, Neonatal death, Seizure, Ataxia OMIM:619167
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Ataxia, Absence seizure with eyelid myoclonia, Generalized non-motor (absence) ... OMIM:613839
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Hydrocephalus, Wide nasal bridge OMIM:616521
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Polyminimyoclonus, Tremor, Vocal cord paresis, Fasciculations OMIM:619574
Parkinson Disease 14, Autosomal Recessive
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... OMIM:612953
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Hyperkinetic movements, Spasticity, Athetosis, Seizure OMIM:612073
Caribbean Parkinsonism
Parkinsonism, Rigidity, Apraxia, Myoclonus, Progressive gait ataxia, Action tremor, Weakness due ... ORPHA:97355
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly, Optic atrophy OMIM:616975
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Wide nasal bridge OMIM:618302
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Wide nasal bridge, Hydrocephalus, Depressed nasal bridge, Dandy-Walker ... OMIM:220220
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus, Short nose, Anteverted nares, Choanal atresia ORPHA:1895
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Myoclonus, Seizure OMIM:246450
Baker-Gordon Syndrome
Choreoathetosis, Ataxia, Involuntary movements, Hyperkinetic movements, Athetoid cerebral palsy OMIM:618218
Krabbe Disease
Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Increased CSF protein concentr... OMIM:245200
Coenzyme Q10 Deficiency, Primary, 1
Seizure, Myoclonus, Status epilepticus, Ataxia, Right hemiplegia, Tremor OMIM:607426
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Depressed nasal ridge, Short stature, Hydrocephalus, Short nose, Intrauterine growth ... OMIM:300863
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Seizure, Myoclonus, Status epilepticus, Babinski sign, Bilateral tonic-clonic seizure ORPHA:364028
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Seizure, Myoclonus, Choreoathetosis, Ataxia, Tremor, Hyperkinetic movements, Opisthot... OMIM:616271
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Seizure, Myoclonus, Focal tonic seizure, Epileptic spasm, Speech apraxia, Bilateral tonic-clonic ... ORPHA:314655
Adams-Oliver Syndrome 2
Optic atrophy, Lateral ventricle dilatation, Hydrocephalus, Depressed nasal bridge, Bulbous nose,... OMIM:614219
Tay-Sachs Disease
Poor fine motor coordination, Exaggerated startle response, Ankle clonus, Typical absence seizure... ORPHA:845
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Hemangioblastoma
Hydrocephalus, Neurogenic bladder ORPHA:252054
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Myoclonus, Seizure OMIM:614922
Neurodevelopmental Disorder With Spasticity And Poor Growth
Myoclonic seizure, Spasticity, Seizure, Limb hypertonia, Oculomotor apraxia, Myoclonus, Ataxia, B... OMIM:618076
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb hypertonia, Myoclonus, Choreoathetosis, Tortico... OMIM:608643
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Optic atrophy ORPHA:588
Thanatophoric Dysplasia
Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Disproportionate short-limb short statu... ORPHA:2655
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Hydrocephalus, Optic atrophy, Choanal atresia ORPHA:93262
Infantile Krabbe Disease
Spasticity, Ankle clonus, Seizure, Spastic diplegia, Myoclonus, Generalized myoclonic seizure, Lo... ORPHA:206436
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hyperkinetic movements, Seizure, Hypertonia OMIM:236270
Central Precocious Puberty
Proportionate short stature, Hydrocephalus ORPHA:759
Stiff-Person Syndrome
Exaggerated startle response, Myoclonic spasms, Rigidity, Frequent falls, Opisthotonus OMIM:184850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Facial palsy OMIM:613155
Galloway-Mowat Syndrome 10
Myoclonus OMIM:619609
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Optic atrophy, Short stature, Ventriculomegaly, Hydrocephalus, Short... OMIM:619833
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia OMIM:616171
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Short nose, Thick nasal alae, Dandy-Walker malformation ORPHA:163961
Congenital Toxoplasmosis
Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly ORPHA:858
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Limb myoclonus, Ankle clonus, Seizure, Hemiparesis, Oculomotor apraxia, Apraxia, A... ORPHA:139396
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Seizure, Spastic tetraplegia, Myoclonus, Status epilepticus, Clonus, Neonatal death OMIM:619055
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Japanese Encephalitis
Focal motor seizure, Respiratory paralysis, Opisthotonus, Paucity of anterior horn motor neurons,... ORPHA:79139
Serotonin Syndrome
Seizure, Rigidity, Myoclonus, Tremor, Hypertonia, Clonus ORPHA:43116
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short stature, Hydrocephalus, Anteverted nares, Short nose ORPHA:2701
Chiari Malformation Type Ii
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy OMIM:207950
L1 Syndrome
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Ventriculomegaly OMIM:614120
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Seizure, Truncal ataxia, Hyperkinetic movements ORPHA:369847
Temple Syndrome
Short stature, Hydrocephalus, Postnatal growth retardation ORPHA:254516
Temple Syndrome
Wide nose, Short stature, Hydrocephalus, Depressed nasal bridge, Anteverted nares, Intrauterine g... OMIM:616222
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Optic atrophy ORPHA:99947
Pallister-Hall-Like Syndrome
Short stature, Hydrocephalus, Short nose, Depressed nasal bridge, Occipital encephalocele OMIM:241800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Prominent nose, Wide nasal bridge, Hydrocephalus, Depressed nasal bridge, Anteverted nares, Bulbo... ORPHA:2180
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Gait ataxia, Generalized-onset seizure, Postural tremor, Myoclonus, Action tremor, Intention tremor OMIM:254900
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:1934
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Prominent nasal bridge, Anteverted nares OMIM:613776
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Ch... OMIM:619777
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Hydrocephalus ORPHA:2635
Neuroferritinopathy
Chorea, Blepharospasm, Resting tremor, Parkinsonism, Palatal tremor, Babinski sign, Involuntary m... ORPHA:157846
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hydrocephalus, Ventriculomegaly, Short stature OMIM:109120
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Tremor, Cogwheel rigidity, Hypertonia, H... OMIM:613135
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Gray matter heterotopia, Ventriculomegaly, Optic atrophy, Hydrocephalus... ORPHA:370959
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Myoclonus, Bradykinesia OMIM:168601
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge ORPHA:380
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Chorea, Seizure, Spastic tetraplegia, Myoclonus, Ataxia, Infantile spasms OMIM:618321
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Wide nasal bridge, Short stature, Anencephaly, Hyd... ORPHA:1908
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Short nose, Depressed nasal bridge, Short columella, Anteverted nares ORPHA:171839
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized ton... OMIM:616973
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Depressed nasal ridge, Short stature, Hydrocephalus, Short nose, Intrauterine growth ... ORPHA:163966
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Myoclonus, Ataxia OMIM:560000
Combined Oxidative Phosphorylation Deficiency 14
Myoclonic seizure, Myoclonus, Seizure OMIM:614946
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Upper limb spasticity, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements ORPHA:457240
Crouzon Syndrome
Convex nasal ridge, Hydrocephalus, Optic atrophy, Choanal atresia ORPHA:207
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Optic atrophy, Hydrocephalus, Depressed nasal bridge, Polymicrogyria ORPHA:60040
Albers-Schönberg Osteopetrosis
Short stature, Hydrocephalus, Optic atrophy, Facial palsy ORPHA:53
Fatal Familial Insomnia
Myoclonus, Ataxia OMIM:600072
3C Syndrome
Abnormality of neuronal migration, Wide nasal bridge, Optic atrophy, Short stature, Ventriculomeg... ORPHA:7
Glutathionuria
Gray matter heterotopia OMIM:231950
Congenital Sialidosis Type 2
Spasticity, Seizure, Myoclonus, Ataxia, Dysmetria ORPHA:93400
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Dystonia-Aphonia Syndrome
Myoclonus, Seizure ORPHA:412217
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Spastic tetraplegia, Myoclonic spasms, Bilateral tonic-clonic seizure, Hypertonia, Opist... OMIM:252160
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Hypogonadism OMIM:601794
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Myoclonus, Tremor, Seizure, Ataxia ORPHA:98794
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Myoclonus, Seizure ORPHA:70595
Orofaciodigital Syndrome Type 3
Spasticity, Oculomotor apraxia, Myoclonus, Focal seizure with eyelid myoclonia ORPHA:2752
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Depressed nasal ridge, Short stature ORPHA:1861
Angelman Syndrome
Seizure, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Ataxia, Atonic seizure, Tr... ORPHA:72
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Agyria, Hydrocephalus, Lissencep... OMIM:614643
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Short stature, Hydrocephalus, Depresse... ORPHA:585
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker m... OMIM:225790
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele OMIM:164180
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Spasticity, Tremor, Seizure OMIM:300957
Infantile Sialic Acid Storage Disease
Hydrocephalus, Anteverted nares OMIM:269920
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dilated third ventricle, Ventriculomegaly, Optic atrophy, Lateral ventricle dilatation, Hydroceph... OMIM:613154
Microtriplication 11Q24.1
Hyperkinetic movements, Seizure, Speech apraxia ORPHA:289522
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Wide nasal bridge OMIM:175700
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomegaly, Macrogyria, Hydr... ORPHA:35107
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog... ORPHA:2211
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements OMIM:619738
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Optic atrophy, Abnormal cortical gyration, Hydrocephalus, Growth delay, Intraut... OMIM:614576
Brain-Lung-Thyroid Syndrome
Chorea, Apraxia, Clumsiness, Myoclonus, Choreoathetosis, Incoordination, Ataxia, Involuntary move... ORPHA:209905
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Gait ataxia, Spasticity, Seizure, Ataxia, Babinski sign, Hyperkinetic movements OMIM:620089
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Broad nasal tip, Ventriculomegaly, Short stature OMIM:609757
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Joubert Syndrome
Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Anteverte... ORPHA:475
Gorlin Syndrome
Hypogonadotropic hypogonadism, Abnormality of the sense of smell, Hydrocephalus, Wide nasal bridge ORPHA:377
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Optic atrophy, Hypogonadism, Short stature, Hydrocephalus, Mild postnatal... OMIM:101800
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Poor coordination, Bilateral tonic-clonic seizure ORPHA:478029
Osteopetrosis, Autosomal Recessive 2
Cranial nerve compression, Optic atrophy, Hydrocephalus, Chronic rhinitis due to narrow nasal air... OMIM:259710
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Joubert Syndrome With Oculorenal Defect
Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Anteverte... ORPHA:2318
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Joubert Syndrome 14
Meningocele, Encephalocele, Optic atrophy, Hydrocephalus, Growth delay, Prominent nasal bridge, D... OMIM:614424
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Spasticity, Seizure, Postural tremor, Truncal ataxia, Myoclonus, Status epilepticus, Ataxia, Babi... OMIM:301072
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Stillbirth OMIM:276950
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Oculomotor apraxia, Myoclonus, Ataxia, Bilateral tonic-clonic seizure ORPHA:247262
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome