Gene: Nrp2 MGI:1100492

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

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, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:208700
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Seizure, Myoclonus OMIM:612736
Mental Retardation, Autosomal Recessive 6
Seizure, Tremor, Involuntary movements, Myoclonus OMIM:611092
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Abnormality of extrapyramidal motor function, Cerebral atrophy, Ataxia, Seizure, Myoclonus, Leuko... OMIM:204300
Developmental And Epileptic Encephalopathy 40
Seizure, Cerebral cortical atrophy, Myoclonus, Choreoathetosis, Spasticity OMIM:617065
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Epilepsy, Progressive Myoclonic 7
Seizure, Tremor, Myoclonus, Ataxia OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Cerebral atrophy, Myoclonus, Ataxia OMIM:600143
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus, Generalized myoclonic seizure OMIM:220300
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Agyria, Subcortical band heterotopia, Gray matter heterotopia OMIM:615412
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Hyperkinetic movements, Cerebral atrophy, Seizure, Myoclonus, Rigidity, Spasticity OMIM:616981
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Pachygyria, Lissencephaly OMIM:614499
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Myoclonus, Familial, 1
Frequent falls, Myoclonus, Ataxia OMIM:614937
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Agyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Seizure, Parkinsonism, Myoclonus OMIM:162350
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Dentatorubral-Pallidoluysian Atrophy
Chorea, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Choreoathetosis OMIM:125370
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Hand tremor, Myoclonus, Generalized-onset seizure ORPHA:86814
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Myoclonus, Babinski sign, ... OMIM:615362
Epilepsy, Progressive Myoclonic, 11
Ataxia, Seizure, Myoclonus, Intention tremor, Rigidity OMIM:618876
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizure with eyelid myoclonia, Chore... OMIM:618587
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Epilepsy, Progressive Myoclonic, 9
Seizure, Status epilepticus, Myoclonus, Gait ataxia OMIM:616540
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Cerebral atrophy, Myoclonus, Ataxia OMIM:204500
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Epilepsy, Progressive Myoclonic, 6
Tremor, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:614018
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Focal hemifacial clonic seizure, Focal-onset seizure, Seizure, Myoclonus OMIM:608105
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Hyperkinetic movements, Cerebral atrophy, Seizure, Myoclonus, Secondary microcephaly, Choreoathet... OMIM:618497
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Frequent falls OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babinski sign,... OMIM:607317
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Epilepsy, Early-Onset, Vitamin B6-Dependent
Hypertonia, Secondary microcephaly, Seizure, Myoclonus, Clonus OMIM:617290
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Seizure, Myoclonus, Cerebral calcification, Microcephaly, Choreoathetosis OMIM:261630
Combined Saposin Deficiency
Generalized clonic seizure, Abnormal periventricular white matter morphology, Hypoplasia of the c... OMIM:611721
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Agyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Simplifie... OMIM:604317
Developmental And Epileptic Encephalopathy 16
Abnormality of extrapyramidal motor function, Cerebral atrophy, Hemiparesis, Status epilepticus, ... OMIM:615338
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Hypertonia, Bilateral... ORPHA:306
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Clumsiness, Atonic seizure, Eyelid myoclonus, Abnormal lower motor neuron morphology, Sei... ORPHA:2590
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Seizure, Tongue fasciculations, Myoclonus, Fascicula... OMIM:159950
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Seizure, Myoclonus, Spas... OMIM:615924
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Hydrocephalus, Gray matter heterotopia OMIM:600348
Geniospasm 1
Chin myoclonus OMIM:190100
Developmental And Epileptic Encephalopathy 69
Corpus callosum atrophy, Hyperkinetic movements, Status epilepticus, Cerebral cortical atrophy, S... OMIM:618285
Hemimegalencephaly
Pachygyria, Atonic seizure, Hemiparesis, Focal tonic seizure, Status epilepticus, Seizure, Polymi... ORPHA:99802
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Glut1 Deficiency Syndrome 1
Hemiparesis, Ataxia, Paralysis, Seizure, Myoclonus, Babinski sign, Secondary microcephaly, Choreo... OMIM:606777
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Torticollis, Limb myoclonus, Myoclonus ORPHA:36899
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Hemiparesis, S... ORPHA:352596
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Agenesis of corpus ... OMIM:617542
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Myoclonus OMIM:610539
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Hypoplasia of the corpus callosum, Hyperkinetic movements, Cerebral atrophy, Seizure, Pol... OMIM:614254
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:613608
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Focal-onset seizure, Paraparesis, Microcephaly, Bilateral tonic-clonic seizu... ORPHA:726
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... ORPHA:139426
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Developmental And Epileptic Encephalopathy 92
Ataxia, Seizure, Myoclonus, Secondary microcephaly, Spasticity OMIM:617829
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Aplasia/Hypoplasia of the corpus c... ORPHA:263516
Early Myoclonic Encephalopathy
Focal tonic seizure, Myoclonus, Focal motor seizure, Focal seizure with eyelid myoclonia, Infanti... ORPHA:1935
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Developmental And Epileptic Encephalopathy 6B
Focal-onset seizure, Chorea, Hyperkinetic movements, Myoclonic absence seizure, Hypoplastic hippo... OMIM:619317
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Apraxia, Hypoplasia of the corpus callosum, Seizure, Cerebral cortical a... OMIM:618193
Dystonia 23
Head tremor, Cerebral cortical atrophy, Torticollis, Myoclonus OMIM:614860
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Classic Glucose Transporter Type 1 Deficiency Syndrome
Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Status epilepticus, Seizure, Myoclon... ORPHA:71277
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Benign Familial Neonatal Epilepsy
Generalized tonic seizure, Focal-onset seizure, Status epilepticus, Simple febrile seizure, Focal... ORPHA:1949
Autosomal Dominant Non-Syndromic Intellectual Disability
Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-onset seizur... ORPHA:178469
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus OMIM:612016
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Torticollis OMIM:618425
Pontocerebellar Hypoplasia Type 4
Seizure, Primary microcephaly, Hypertonia, Myoclonus ORPHA:166063
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Seizure, Cerebral cortical atrophy, Myoclonus, Microcephaly, Agenesis of corpus callosum, Spasticity OMIM:617669
Developmental And Epileptic Encephalopathy 1
Erratic myoclonus, Focal-onset seizure, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis... OMIM:308350
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Abnormal caudate nucleus morphology, Parkinsonism with favorable respons... ORPHA:314632
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-onset seizur... ORPHA:208447
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Hydrocephalus OMIM:615938
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, M... ORPHA:2382
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Seizure, Myoclonus, Microcephaly, Spasticity OMIM:225753
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... ORPHA:86909
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Seizure, Myoclonus, Dysmetria OMIM:256731
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Peho-Like Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Status epilepticus, Seizure, Polymicrogyria, Myocl... OMIM:617507
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Myoclonus, Bilateral tonic-clonic seizure OMIM:254800
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Dravet Syndrome
Photosensitive myoclonic seizure, Poor fine motor coordination, Focal hemiclonic seizure, Rigidit... ORPHA:33069
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypertonia, Progressive microcephaly, Myoclonus OMIM:610090
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Autosomal Recessive Spastic Paraplegia Type 48
Hypoplasia of the corpus callosum, Ataxia, Lower limb spasticity, Spastic gait, Parkinsonism, Myo... ORPHA:306511
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Myoclonus OMIM:300699
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
Continuous Spikes And Waves During Sleep
Clumsiness, Speech apraxia, Atonic seizure, Focal-onset seizure, Hyperkinetic movements, Myocloni... ORPHA:725
Glycine Encephalopathy
Seizure, Agenesis of corpus callosum, Myoclonus OMIM:605899
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus, Focal T2 hypo... ORPHA:139485
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Microcephaly, Choreoathetosis OMIM:609056
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Lissencephaly, Gray matter heterotopia OMIM:300067
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Ataxia, Myoclonus, Involuntary movements, Spasticity OMIM:617282
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Ataxia, Seizure, Myoclonus, Secondary microcephaly, Progressive microcephaly, S... OMIM:256730
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly OMIM:611603
Congenital Disorder Of Glycosylation, Type In
Ataxia, Seizure, Myoclonus, Microcephaly, Spasticity OMIM:612015
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Juvenile Huntington Disease
Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ataxia, Bradykinesia, Seizure, Pr... ORPHA:248111
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Limb dysmetria, Myoclonus ORPHA:363710
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Ataxia, Frontotemporal cerebral atrophy, Seizure, M... ORPHA:391417
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Spastic diplegia, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Babinski sign OMIM:619065
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Cerebral atrophy, Ataxia, Seizure, Myoclonus, Microcephaly, Spasticity OMIM:618426
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia ORPHA:352682
Chudley-Mccullough Syndrome
Polymicrogyria, Hydrocephalus, Gray matter heterotopia OMIM:604213
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Seizure, Cere... ORPHA:79263
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor function OMIM:604218
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Myo... OMIM:619028
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Developmental And Epileptic Encephalopathy 68
Status epilepticus, Cerebral cortical atrophy, Exaggerated startle response, Myoclonus, Clonus, M... OMIM:618201
Developmental And Epileptic Encephalopathy 49
Seizure, Myoclonus, Cerebral calcification, Microcephaly, Spasticity OMIM:617281
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Cerebral atrophy, Seizure, Parkinsonism, Myoclonus OMIM:204200
Familial Infantile Myoclonic Epilepsy
Clumsiness, Thick cerebral cortex, Focal-onset seizure, Blepharospasm, Bilateral tonic-clonic sei... ORPHA:352582
Familial Infantile Bilateral Striatal Necrosis
Cogwheel rigidity, Choreoathetosis, Gait ataxia, Basal ganglia gliosis, Basal ganglia cysts, Atro... ORPHA:225154
Thyrocerebrorenal Syndrome
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Hypertonia, Microcephaly, Progressive microcephaly, Seizure, Babinski sign, ... OMIM:614498
Hyperekplexia 4
Seizure, Hypertonia, Cerebral atrophy, Myoclonus OMIM:618011
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Seizure, Myoclonus, Dysmetria, Agenesis of corpus callosum OMIM:250620
Foxg1 Syndrome
Pachygyria, Agenesis of corpus callosum, Focal-onset seizure, Hypoplasia of the corpus callosum, ... ORPHA:561854
Caribbean Parkinsonism
Apraxia, Progressive gait ataxia, Midline brain calcifications, Bradykinesia, Weakness due to upp... ORPHA:97355
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hydrocephalus OMIM:615937
Spinocerebellar Ataxia 17
Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia, Seizure, Parkinsonism, Myoclonus... OMIM:607136
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor, Generalized-onset seizure OMIM:254900
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Seizure, Abnormal upper motor neuro... OMIM:221770
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Focal-onset seizure, Hypertonia, Ataxia, Bilateral tonic-clonic seizure with... OMIM:619092
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Seizure, Spastic tetraplegia, Myoclonus, Microcephaly OMIM:614462
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Myoclonus, Dysmetria OMIM:618251
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Hypoplasia of the corpus callosum, Hyperton... OMIM:618877
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:485350
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Hypertonia, Ataxia, Seizure, Myoclonus, Dysmetria, Intention tremor, Babinski... OMIM:618356
Alzheimer Disease 3
Apraxia, Neurofibrillary tangles, Abnormality of extrapyramidal motor function, Spastic tetrapare... OMIM:607822
Early-Onset Lafora Body Disease
Spastic tetraparesis, Ataxia, Seizure, Lafora bodies, Myoclonus ORPHA:324290
Thyrocerebroretinal Syndrome
Seizure, Slurred speech, Myoclonus, Ataxia OMIM:274240
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Hypoplasia of the corpus callosum, Dys... ORPHA:300570
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge OMIM:209970
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Progressive microcephaly, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Bilateral tonic-clon... OMIM:614487
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Myoclonus, Ataxia OMIM:618225
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Choreoathetosis, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hyperkinetic m... ORPHA:13
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Tetraparesi... OMIM:616672
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Microcephaly, Diffuse cerebral atrophy, Morning myoclonic jerks ORPHA:2898
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Myoclonus, Intractable, Neonatal
Chorea, Seizure, Progressive leukoencephalopathy, Myoclonus, Microcephaly, Athetosis OMIM:617235
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Rigidity, Myoclonus OMIM:619057
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Seizure, Progressive cerebellar ataxia, Lafora bodies, Spastic tetraplegi... OMIM:616640
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Anteverted nares, Hydrocephalus OMIM:300884
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Palatal myoclonus, Cerebral cortical atrophy, Truncal ataxia, Spastic paraparesis OMIM:113610
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Hand tremor, Vocal tremor ORPHA:420485
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Erratic myoclonus, Chorea, Spastic ataxia, Abnormal pyramidal sign, Abnormal... ORPHA:397946
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Seizure, Abnormality of the basal ganglia, Tetraplegia, Fasciculations OMIM:300816
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Optic atrophy, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykinesia, Seizure, Myoclonus, Slowed sl... ORPHA:391411
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Spastic paraparesis, Spastic dysarthria, Oculomotor apraxia, Bilateral tonic-... ORPHA:313772
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Myoclonus, Microcephaly, Retrocollis OMIM:617284
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Seizure, Myoclonus, Microcephaly, Diffuse cerebral atrophy OMIM:614946
Schindler Disease, Type I
Seizure, Myoclonus, Spasticity OMIM:609241
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Seizure, Polymicrogyria, Myoclonus, Progressive microcephaly OMIM:300673
Sporadic Creutzfeldt-Jakob Disease
Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Cerebral atrophy, Ataxia, ... ORPHA:204
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
D-Glyceric Aciduria
Seizure, Opisthotonus, Cerebral cortical atrophy, Spastic tetraplegia, Myoclonus, Microcephaly OMIM:220120
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Spasticity, Seizure, Hand apraxia, Tongue thru... ORPHA:3095
Paroxysmal Non-Kinesigenic Dyskinesia
Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Involuntary ... ORPHA:98810
Narp Syndrome
Progressive gait ataxia, Ataxia, Seizure, Cerebral cortical atrophy, Babinski sign, Myoclonic spa... ORPHA:644
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Seizure, Progressive leukoencephalopathy, Myoclonus, Babinski sign, Leukoencephalopathy, ... OMIM:252011
Mitochondrial Dna Depletion Syndrome 19
Focal-onset seizure, Hypoplasia of the corpus callosum, Tetraparesis, Myoclonus, Infantile spasms... OMIM:618972
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Myoclonus, Resting tremor ORPHA:324588
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Myoclonus, Babinski sign, Stereotypy, Rigidity OMIM:600795
Mitochondrial Complex I Deficiency, Nuclear Type 18
Seizure, Myoclonus OMIM:618240
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Cerebral atr... ORPHA:363400
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia OMIM:618572
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Hypoplasia of the corpus callosum, Hyperkinetic movements, Cerebral atrophy, Seizure, Inv... OMIM:617493
Congenital Hydrocephalus
Bulbous nose, Hydrocephalus, Ventriculomegaly, Abnormal cortical gyration, Optic atrophy, Colpoce... ORPHA:2185
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Occipital cortical atrophy, Atonic seizure, Hypoplasia of the corpus c... ORPHA:411986
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
Subependymal Nodular Heterotopia
Focal-onset seizure, Seizure, Polymicrogyria, Focal cortical dysplasia, Limb myoclonus, Focal awa... ORPHA:101030
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:607876
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus OMIM:617244
Early-Onset Autosomal Dominant Alzheimer Disease
Apraxia, Neurofibrillary tangles, Hypertonia, Oculomotor apraxia, Ataxia, Seizure, Cerebral corti... ORPHA:1020
Pontocerebellar Hypoplasia, Type 2E
Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Secondary microcephaly, Opisthot... OMIM:615851
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Abnormality of extrapyramidal motor function, Ataxia, Seizure, Myoclonus, Spasticity OMIM:614299
Hyperekplexia 1
Hypertonia, Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures, Frequent falls OMIM:149400
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Hypertonia, Spastic tetraparesis, Cerebral white matter hypopl... ORPHA:284417
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Focal T2 hyperintense basal ganglia lesion, Spastic hemiparesis,... ORPHA:282166
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Corpus callosum atrophy, Atonic seizure, Focal-onset seizure, Cerebral atroph... ORPHA:168491
Developmental And Epileptic Encephalopathy 72
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Hyperkinetic moveme... OMIM:618374
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus OMIM:616398
Pontocerebellar Hypoplasia, Type 7
Spastic paraplegia, Hypoplasia of the corpus callosum, Cerebral atrophy, Oculomotor apraxia, Seiz... OMIM:614969
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Lissencephaly OMIM:618677
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Para... OMIM:606693
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Spastic diplegia, Ataxia, Myoclonus, Babinski sign, Progressive spasticity, Spastic d... ORPHA:401866
Huntington Disease
Clumsiness, Chorea, Abnormal cerebral white matter morphology, Poor fine motor coordination, Cere... ORPHA:399
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Bradykinesia,... ORPHA:101150
Hereditary Hyperekplexia
Hypertonia, Ataxia, Seizure, Myoclonus, Fasciculations, Rigidity, Spasticity ORPHA:3197
Nipah Virus Disease
Seizure, Tremor, Myoclonus ORPHA:99825
Papilloma Of Choroid Plexus
Papilledema, Hydrocephalus, Choroid plexus papilloma OMIM:260500
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Cerebral atrophy, Ataxia, Status epilepticus, Seizure, Limb ... ORPHA:442835
Biemond Syndrome Type 2
Delayed puberty, Short stature, Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus ORPHA:141333
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Focal-onset seizure, Abnormal cerebral white matter morphology, Paralysis, Status epilepticus, My... ORPHA:83601
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Cerebral atrophy, Ataxia, Generalized non-motor (absence) seizure, Secondary mi... OMIM:613839
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Limb ataxia, Oculomotor apraxia, Bradykinesia, Action tremor... OMIM:183090
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Ataxia, Tongue fasciculations, Dysmetria, Intention tre... ORPHA:276198
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Seizure, Myoclonus OMIM:616158
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Agenesis of cor... ORPHA:250972
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Gait ataxia, Chorea, Oculomotor apraxia, Ataxia, Myoclonus, Dysmetria, Intent... ORPHA:251347
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Partial agenesis of the corpus callosum, Seizure, Cerebral cortical atrophy, Primary microcephaly... ORPHA:500144
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Hypoplasia of the corpus callosum, Eyelid myoclonus, Abnormal pyramidal s... OMIM:618060
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Seizure, Hemiplegia/hemipa... ORPHA:79279
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, B... OMIM:602099
X-Linked Dystonia-Parkinsonism
Frequent falls, Parkinsonism with favorable response to dopaminergic medication, Chorea, Blepharo... ORPHA:53351
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Riboflavin Transporter Deficiency
Tremor, Ataxia, Seizure, Cerebral cortical atrophy, Myoclonus ORPHA:97229
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Clumsiness, Focal T2 hyperintense thalamic lesion, Po... ORPHA:79264
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:231000
Myoclonic Epilepsy Of Lafora
Apraxia, Bilateral tonic-clonic seizure, Lafora bodies, Generalized non-motor (absence) seizure, ... OMIM:254780
Lissencephaly 5
Type II lissencephaly, Subcortical band heterotopia, Hydrocephalus, Gray matter heterotopia OMIM:615191
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Neurofibrillary tangles, Limb ataxia, Bradykinesia,... OMIM:137440
Abeta Amyloidosis, Iowa Type
Myoclonus ORPHA:324708
Pyridoxal Phosphate-Responsive Seizures
Hypertonia, Status epilepticus, Seizure, Myoclonus, Microcephaly ORPHA:79096
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Mitochondrial Complex I Deficiency, Nuclear Type 19
Seizure, Myoclonus, Secondary microcephaly, Athetosis, Rigidity OMIM:618241
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebral atrophy, Myoclonus, Epileptic spasm OMIM:619060
Lafora Disease
Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizure, Spasticity, Bil... ORPHA:501
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Palatal myoclonus, Chorea, Blepharo... ORPHA:157846
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus, Generalized n... OMIM:271980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Gómez-López-Hernández Syndrome
Anteverted nares, Hydrocephalus, Short stature ORPHA:1532
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Optic atrophy, Hydrocephalus, Lissencephaly ORPHA:1528
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Clumsiness, Neurofibrillary tangles, Parkinsonism with favorable response... ORPHA:199351
Peho Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Seizure, Polymicrogyria, Myoclonus, Progressive mi... OMIM:260565
Masa Syndrome
Ventriculomegaly, Hydrocephalus, Short stature OMIM:303350
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Choreoathetosis, Hyperkinetic movements, Seizure, Limb hypertonia, Rigidity OMIM:233910
Gerstmann-Straussler-Scheinker Syndrome
Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia ORPHA:356
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
3-Methylglutaconic Aciduria Type 7
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Hyper... ORPHA:445038
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Basal ganglia calcification, Myoclonus, Dysmetria, Inten... OMIM:616505
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Unilateral Polymicrogyria
Pseudobulbar paralysis, Generalized tonic seizure, Focal-onset seizure, Poor fine motor coordinat... ORPHA:268943
Achondroplasia
Rhizomelia, Hydrocephalus, Neonatal short-limb short stature, Depressed nasal bridge OMIM:100800
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the corpus callosum, Spastic tetraparesis, Cerebral atrophy, Seizure, Myoclonus, Pr... OMIM:614261
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Parkinsonian-Pyramidal Syndrome
Abnormal pyramidal sign, Lewy bodies, Bradykinesia, Parkinsonism, Myoclonus, Babinski sign, Inten... ORPHA:171695
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Limb ataxia, Bradykinesia, Seizure, Torticollis, Myoclonus, Titubation ORPHA:98768
Diencephalic Syndrome
Optic atrophy, Hydrocephalus ORPHA:1672
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Seizure, Myoclonus, Microcephaly, Dilation of lateral ventricles, Spasticity ORPHA:3078
Developmental And Epileptic Encephalopathy 2
Multifocal seizures, Seizure, Infantile spasms, Myoclonus, Stereotypy, Progressive microcephaly, ... OMIM:300672
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge ORPHA:83473
Kleeblattschaedel
Hydrocephalus OMIM:148800
Combined Oxidative Phosphorylation Deficiency 11
Pachygyria, Hypoplasia of the corpus callosum, Seizure, Cerebral cortical atrophy, Myoclonus, Ton... OMIM:614922
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus OMIM:304100
Vitamin K Antagonist Embryofetopathy
Short nose, Choanal atresia, Optic atrophy, Intrauterine growth retardation, Myelomeningocele, An... ORPHA:1914
Temple Syndrome
Short stature, Intrauterine growth retardation, Anteverted nares, Hydrocephalus, Wide nose, Depre... OMIM:616222
Craniofacial Dyssynostosis
Underdeveloped nasal alae, Hydrocephalus, Short stature, Wide nasal bridge ORPHA:1516
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Bulbous nose, Wide nasal bridge, Anteverted nares, Hydrocephalus, Depressed nasal bridge OMIM:600991
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Abnormal cerebral white matter morphology, Seizure, Myoclonus, Microcephaly, Spasticity OMIM:246450
Cog8-Cdg
Seizure, Progressive microcephaly, Myoclonus, Ataxia ORPHA:95428
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Bradykinesia, Weakness due to upper motor neuron dysfunction, Sei... ORPHA:466722
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Ventriculomegaly, Intrauterine growth retardation, Optic atrophy, Hydrocep... ORPHA:272
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus, Short stature ORPHA:2183
Adenylosuccinase Deficiency
Gait ataxia, Cerebral atrophy, Seizure, Opisthotonus, Myoclonus, Microcephaly, Spasticity OMIM:103050
Adult-Onset Cervical Dystonia, Dyt23 Type
Head tremor, Limb tremor, Torticollis, Cerebral cortical atrophy, Myoclonus ORPHA:420492
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Prominent nose OMIM:304340
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Punding, Myoclonic absence seizure... ORPHA:64280
Kohlschutter-Tonz Syndrome-Like
Generalized clonic seizure, Generalized tonic seizure, Tremor, Upper limb spasticity, Focal-onset... OMIM:619229
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Hydrocephalus ORPHA:324416
Amyotrophic Lateral Sclerosis 18
Fasciculations, Amyotrophic lateral sclerosis, Spasticity OMIM:614808
Aicardi-Goutieres Syndrome 4
Convex nasal ridge, Ventriculomegaly, CSF lymphocytic pleiocytosis, Intrauterine growth retardati... OMIM:610333
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Bulbous nose, Gray matter heterotopia, Ventriculomegaly, Simplified ... OMIM:615219
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Valinemia
Hyperkinetic movements OMIM:277100
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle clonus, Progressive c... ORPHA:284289
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Seizure, Neonatal death, Myoclonus, Secondary microcephaly OMIM:619167
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Aganglionic megacolon, Hydrocephalus, Wide nasal bridge OMIM:613603
Juvenile Sialidosis Type 2
Ataxia, Seizure, Lower limb spasticity, Myoclonus, Dysmetria, Generalized myoclonic seizure, Spas... ORPHA:93399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Fasciculations, Amyotrophic lateral sclerosis OMIM:613954
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Hypoplasia of the corpus callosum, Ataxia, Seizure, Tongue thrusting, Recurrent hand flap... ORPHA:98794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia, Ventriculomegaly, Anencephaly, Optic nerve dyspla... OMIM:615287
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:1934
Neuraminidase Deficiency
Seizure, Slurred speech, Myoclonus, Dysmetria OMIM:256550
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Abnormality of the a... ORPHA:449563
Baker-Gordon Syndrome
Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, Choreoathetosis OMIM:618218
Optic Pathway Glioma
Growth delay, Optic atrophy, Papilledema, Hydrocephalus ORPHA:2086
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Bradykinesia, Lewy bodies, Parkinsonism, Myoclonus, Rigidity OMIM:168601
Amyotrophic Lateral Sclerosis 1
Pseudobulbar paralysis, Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Fasci... OMIM:105400
Tay-Sachs Disease
Tremor, Incoordination, Clumsiness, Hypointensity of cerebral white matter on MRI, Poor fine moto... ORPHA:845
Japanese Encephalitis
Pill-rolling tremor, Abnormality of the internal capsule, Abnormality of extrapyramidal motor fun... ORPHA:79139
Polymicrogyria Due To Tubb2B Mutation
Pachygyria, Gray matter heterotopia, Polymicrogyria, Perisylvian polymicrogyria, Lissencephaly ORPHA:300573
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Infantile Krabbe Disease
Hypointensity of cerebral white matter on MRI, Abnormal periventricular white matter morphology, ... ORPHA:206436
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Upper limb spasticity, Hyperkinetic movements, Bilateral tonic-clonic seizure, Seizure, S... ORPHA:457240
Leukodystrophy, Hypomyelinating, 10
Hypoplasia of the corpus callosum, Hyperkinetic movements, Cerebral atrophy, Seizure, Cerebral co... OMIM:616420
Mental Retardation, Autosomal Dominant 13
Pachygyria, Abnormality of neuronal migration OMIM:614563
Sialidosis Type 1
Tremor, Slurred speech, Ataxia, Seizure, Myoclonus ORPHA:812
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Polymicrogyria, Simplified gyral pattern, Microlissencep... OMIM:616212
Pseudohypoparathyroidism Type 2
Myoclonic spasms, Hypocalcemic seizures ORPHA:94090
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
X-Linked Intellectual Disability Due To Gria3 Mutations
Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, M... ORPHA:364028
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Ventriculomegaly, Agyria, Lissencephaly, Hydrocephalus, Dandy-... OMIM:613153
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Truncal ataxia, Chorea, Hyperkinetic movements, Cerebral atrophy, Seizure ORPHA:369847
Bresek Syndrome
Convex nasal ridge, Growth delay, Aganglionic megacolon, Neonatal death, Optic nerve hypoplasia, ... ORPHA:85284
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Depressed nasal bridge OMIM:602501
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Angelman Syndrome
Tremor, Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status ... ORPHA:72
Hydrocephalus With Associated Malformations
Intrauterine growth retardation, Pulmonary hypoplasia, Hydrocephalus OMIM:236640
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Apraxia, Abnormal periventricular white matter morphology, Spastic tetraparesis, O... ORPHA:139396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Optic nerve hypoplasia, Hydrocephalus OMIM:615181
Fried Syndrome
Hydrocephalus ORPHA:85335
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Status epilepticus, Seizure, Neonatal death, Spastic tetraplegia, Myoclonus, Clonus, Microcephaly OMIM:619055
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Focal tonic seizure, Seizure, Bilateral tonic-clonic seizure with generalized ons... ORPHA:314655
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Hydrocephalus OMIM:612247
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Thanatophoric Dysplasia
Gray matter heterotopia, Ventriculomegaly, Pulmonary hypoplasia, Intrauterine growth retardation,... ORPHA:2655
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Abnormality of neuronal migration, Aplasia/Hypoplasia of the... ORPHA:93274
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Krabbe Disease
Increased CSF protein, Optic atrophy, Hydrocephalus, Decreased nerve conduction velocity OMIM:245200
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Dandy-Walker Malformation With Postaxial Polydactyly
Wide nasal bridge, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Depressed ... OMIM:220220
Molybdenum Cofactor Deficiency, Complementation Group B
Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Seizure, Opisthotonus, Spastic t... OMIM:252160
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Limb tremor, Torticollis, Limb hypertonia, Exaggerated startle response, Tongue th... OMIM:608643
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Edinburgh Malformation Syndrome
Short nose, Choanal atresia, Abnormality of neuronal migration, Anteverted nares, Hydrocephalus ORPHA:1895
9P13 Microdeletion Syndrome
Hand tremor, Myoclonus ORPHA:324313
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Simplified gyral pattern OMIM:619302
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Ventriculomegaly, Wide nasal bridge, Anteverted nares, Hydrocephalus OMIM:618577
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Rhizomelia, Short stature, Depressed nasal ridge, Intrauterine growth retardation, Hy... OMIM:300863
Serotonin Syndrome
Tremor, Hypertonia, Seizure, Myoclonus, Clonus, Rigidity ORPHA:43116
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Severe short stature, Depressed nasal bridge ORPHA:2635
Dystonia-Aphonia Syndrome
Seizure, Cerebral atrophy, Myoclonus ORPHA:412217
Intellectual Developmental Disorder, X-Linked 12
Tremor, Abnormal cerebral white matter morphology, Hyperkinetic movements, Seizure, Microcephaly,... OMIM:300957
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Seizure, Gait ataxia, Myoclonus, Abnormal thalamic MRI signal intensity ORPHA:70595
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker m... OMIM:225790
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Poor coordination, Spastic diplegia, Hyperkinetic movements, Frontotemporal... ORPHA:391428
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
L1 Syndrome
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Bulbous nose, Wide nasal bridge, Prominent nose, Anteverted nares, Hydrocephalus, Depressed nasal... ORPHA:2180
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Optic atrophy, Choanal atresia, Hydrocephalus ORPHA:93262
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Gray matter heterotopia, Severe short stature, Neonatal death,... OMIM:187600
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Frequent falls, Myoclonic spasms, Rigidity OMIM:184850
Optic Atrophy 11
Hyperkinetic movements, Ataxia, Leukoencephalopathy, Dysmetria, Microcephaly OMIM:617302
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Anteverted nares, Hydrocephalus, Short stature ORPHA:2701
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Optic atrophy, Hydrocephalus ORPHA:588
Hemangioblastoma
Neurogenic bladder, Hydrocephalus ORPHA:252054
Mend Syndrome
Short stature, Prominent nasal bridge, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Paralysis, Status epilepticus, Epilepsia partialis continua, Myoclonus, Cereb... OMIM:203700
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Hydrocephalus, Bulbous nose, Narrow nasal ridge OMIM:612940
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Abnormal auditory evoked potentials, Hydrocephalus, Short stature OMIM:109120
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Ventriculomegaly, Thick nasal alae, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Central Precocious Puberty
Hydrocephalus, Proportionate short stature ORPHA:759
Chromosome 17P13.1 Deletion Syndrome
Prominent nasal bridge, Anteverted nares, Hydrocephalus OMIM:613776
Pallister-Hall-Like Syndrome
Short nose, Pulmonary hypoplasia, Hydrocephalus, Depressed nasal bridge OMIM:241800
Temple Syndrome
Short stature, Hydrocephalus, Postnatal growth retardation ORPHA:254516
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Apraxia, Clumsiness, Incoordination, Chorea, Elevated circulating thyroi... ORPHA:209905
Congenital Toxoplasmosis
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus ORPHA:858
Combined Oxidative Phosphorylation Defect Type 29
Primary microcephaly, Myoclonic spasms, Poor coordination, Bilateral tonic-clonic seizure ORPHA:478029
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Hyperkinetic movements, Cerebral atrophy, Seizure, Abnormality of the basal ganglia, Athetosis, S... OMIM:612073
Fatal Familial Insomnia
Myoclonus, Ataxia OMIM:600072
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Short columella, Laryngomalacia, Anteverted nares, Hydrocephalus, Depressed nasal bridge ORPHA:171839
3C Syndrome
Short nose, Ventriculomegaly, Recurrent respiratory infections, Postnatal growth retardation, Abn... ORPHA:7
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ankle clonus, Ataxia, Lower limb spast... OMIM:618598
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge ORPHA:380
Congenital Sialidosis Type 2
Ataxia, Seizure, Myoclonus, Dysmetria, Spasticity ORPHA:93400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Hydrocephalus ORPHA:99947
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Myoclonus, Ataxia OMIM:560000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Rhizomelia, Short stature, Depressed nasal ridge, Intrauterine growth retardation, Hy... ORPHA:163966
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypoplasia of the corpus callosum, Hypertonia, Secondary microcephaly, Bilateral tonic-clonic sei... ORPHA:447997
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Pulmonary artery atresia, Anencephaly, Wide nasal bridge, M... ORPHA:1908
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Optic atrophy, Hydrocephalus, Depressed nasal bridge ORPHA:60040
Crouzon Disease
Convex nasal ridge, Optic atrophy, Choanal atresia, Hydrocephalus ORPHA:207
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Seizure, Progressive gait ataxia, Myoclonus OMIM:607459
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Optic atrophy, Hydrocephalus, Periventricular heterotopia OMIM:618476
Albers-Schönberg Osteopetrosis
Facial palsy, Hydrocephalus, Short stature, Optic atrophy ORPHA:53
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Bronchiectasis, ... ORPHA:244
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, 4-layered lissencephaly, Abnormality of neuronal migration ORPHA:89844
Molybdenum Cofactor Deficiency, Complementation Group A
Hypoplasia of the corpus callosum, Spastic tetraparesis, Cerebral atrophy, Seizure, Opisthotonus,... OMIM:252150
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Gray matter heterotopia, Ventriculomegaly, Dilated fourth ventricle, Polym... ORPHA:370959
Orofaciodigital Syndrome Type 3
Focal seizure with eyelid myoclonia, Oculomotor apraxia, Myoclonus, Spasticity ORPHA:2752
Mental Retardation, Buenos Aires Type
Prominent nose, Hydrocephalus, Wide nasal bridge OMIM:249630
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Multiple Sulfatase Deficiency
Short stature, Abnormality of peripheral nerve conduction, Optic atrophy, Anteverted nares, Hydro... ORPHA:585
Niemann-Pick Disease Type C
Tremor, Clumsiness, Frontal cortical atrophy, Speech apraxia, Progressive gait ataxia, Focal-onse... ORPHA:646
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia OMIM:207950
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Hydrocephalus OMIM:601794
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Subcortical heterotopia, Polymicrogyr... OMIM:614643
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Walker-Warburg Syndrome
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyration, Macrog... ORPHA:899
Melas
Focal-onset seizure, Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebral white ... ORPHA:550
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus, Wide nasal bridge OMIM:175700
Gorlin Syndrome
Hypogonadotropic hypogonadism, Abnormality of the sense of smell, Hydrocephalus, Wide nasal bridge ORPHA:377
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Growth delay, Short stature, Optic atrophy, Hydrocephalus, Optic disc pallor OMIM:259720
Congenital Disorder Of Deglycosylation
Chorea, Hyperkinetic movements, Action tremor, Seizure, Myoclonus, Dysmetria, Involuntary movemen... OMIM:615273
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Mild postnatal growth retardation, Short stature, Broad nasal tip, Intrau... OMIM:101800
Ciliary Dyskinesia, Primary, 1
Absent frontal sinuses, Bronchiectasis, Nasal polyposis, Anosmia, Pneumonia, Sinusitis, Chronic r... OMIM:244400
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyr... ORPHA:2211
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microcephaly, Myoclonus ORPHA:1352
Infantile Sialic Acid Storage Disease
Anteverted nares, Hydrocephalus OMIM:269920
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Desmosterolosis
Anomalous pulmonary venous return, Pachygyria, Short nose, Ventriculomegaly, Growth delay, Abnorm... ORPHA:35107
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Long nose, Communicating hydrocephalus, Wide nose ORPHA:2184
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature, Depressed nasal ridge ORPHA:1861
Paternal Uniparental Disomy Of Chromosome 1
Seizure, Myoclonus ORPHA:251004
Joubert Syndrome 14
Growth delay, Prominent nasal bridge, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Mental Retardation, Autosomal Dominant 36
Ventriculomegaly, Anteverted nares, Hydrocephalus OMIM:616362
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Rhombencephalosynapsis
Short nose, Ventriculomegaly, Aganglionic megacolon, Septo-optic dysplasia, Tracheoesophageal fis... ORPHA:59315
Whipple Disease
Seizure, Abnormal pyramidal sign, Myoclonus, Ataxia ORPHA:3452
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Intrauterine growth retardation, Anteverted nares, Hydrocephalus, Dandy-Walker mal... OMIM:612938
Developmental And Epileptic Encephalopathy 89
Hypoplasia of the corpus callosum, Hypertonia, Hyperkinetic movements, Tetraparesis, Cerebral atr... OMIM:619124
Pseudohypoparathyroidism Type 1B
Myoclonic spasms, Pituitary resistance to thyroid hormone, Hypocalcemic seizures, Decreased respo... ORPHA:94089
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Hyperphosphatasia-Intellectual Disability Syndrome
Oculomotor apraxia, Ataxia, Bilateral tonic-clonic seizure, Seizure, Myoclonus ORPHA:247262
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Growth delay, Abnormal cortical gyration, Intrauterine growth retardation, Opti... OMIM:614576
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Depressed nasal bridge OMIM:220210
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Joubert Syndrome
Aganglionic megacolon, Abnormality of neuronal migration, Polymicrogyria, Prominent nasal bridge,... ORPHA:475
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sinusitis... OMIM:618699
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Ventriculomegaly, Pneumonia, Aqueductal stenosis, Meningocele, Polymicrogyria... ORPHA:1136
3-Hydroxy-3-Methylglutaric Aciduria
Spastic hemiparesis, Ataxia, Seizure, Myoclonus, Leukoencephalopathy, Microcephaly, Spasticity ORPHA:20
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disproportionate short stature, Rhizomelia, Severe short stature, Hydrocephalus, Depressed nasal ... OMIM:616482
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Focal emotional seizure with laughing, Atonic seizure, Chorea, Hyperkinetic movements, Oculomotor... ORPHA:404454
Vacterl Association With Hydrocephalus
Stillbirth, Hydrocephalus, Aqueductal stenosis OMIM:276950
Pontocerebellar Hypoplasia Type 7
Hypoplasia of the corpus callosum, Hypertonia, Abnormal cerebral white matter morphology, Seizure... ORPHA:284339
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus, Short stature OMIM:218350
Joubert Syndrome With Oculorenal Defect
Anteverted nares, Aganglionic megacolon, Abnormality of neuronal migration, Prominent nasal bridg... ORPHA:2318
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Kufor-Rakeb Syndrome
Eyelid apraxia, Hypertonia, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Cerebral cortic... ORPHA:306674
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Functioning Gonadotropic Adenoma
Infertility, Abnormality of the menstrual cycle, Amenorrhea, Oligospermia, Impotence, Decreased f... ORPHA:91348
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Wide nasal bridge, Short stature, Hydrocephalus, Prominent nose OMIM:614886
Neuroblastoma, Susceptibility To, 1
Myoclonus, Ataxia OMIM:256700
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Ventriculomegaly, Growth delay, Intrauterine growth retardation, ... OMIM:300514
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Ataxia-Telangiectasia
Tremor, Ataxia, Seizure, Myoclonus, Choreoathetosis OMIM:208900
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Craniopharyngioma