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
Myoclonic tremor, Seizure OMIM:618075
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia, Generalized myoclonic seizure, Seizure OMIM:208700
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Seizure OMIM:611092
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia, Seizure OMIM:616366
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:615127
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia, Seizure OMIM:616187
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Myoclonus, Myoclonic seizure, Parkinsonism, Bilateral tonic-clonic seizure, Seizure, Abno... OMIM:162350
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Pachygyria, Lissencephaly OMIM:614499
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Generalized-onset seizure, Hand tremor, Focal-onset seizure ORPHA:86814
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Myoclonus, Familial, 1
Frequent falls, Myoclonus, Ataxia OMIM:614937
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Ataxia, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Seizure OMIM:618876
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure OMIM:125370
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, A... ORPHA:95434
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Myoclonus, Tremor, Focal-onset seizure, Seizure OMIM:608105
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Gait ataxia, Seizure OMIM:616540
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, Ataxia, Seizure OMIM:600143
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Dystonia 3, Torsion, X-Linked
Tremor, Myoclonus, Chorea, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Hypertonia, Focal impaired awareness seizure, Generalize... ORPHA:306
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, C... ORPHA:2590
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Generalized myoclonic seizure, Myoclonus, Spasticity, Seizure OMIM:545000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Seizure, Abnormality of extrapyramidal motor function OMIM:615362
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Status epilepticus withou... OMIM:204300
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... OMIM:604317
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Chorea, Bilateral tonic-clonic s... OMIM:616139
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... ORPHA:79262
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Cogwheel rigidity,... OMIM:616981
Geniospasm 1
Chin myoclonus OMIM:190100
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia OMIM:600348
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Myoclonus, Degeneration of anterior horn cells, Fasciculations, Fr... OMIM:159950
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:139426
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Juvenile Absence Epilepsy
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:1941
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Myoclonus, Torticollis, Limb myoclonus ORPHA:36899
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... ORPHA:307
Epilepsy, Early-Onset, Vitamin B6-Dependent
Hypertonia, Myoclonus, Clonus, Seizure OMIM:617290
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Seizure OMIM:616921
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Ataxia, Seizure OMIM:204500
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Myoclonus, Myoclonic status epilepticus, Tremor, Bilateral tonic-clonic s... OMIM:614018
Benign Familial Neonatal Epilepsy
Status epilepticus, Generalized tonic seizure, Focal clonic seizure, Limb myoclonus, Simple febri... ORPHA:1949
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus OMIM:619647
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations OMIM:607317
Early Myoclonic Encephalopathy
Focal motor seizure, Generalized myoclonic seizure, Myoclonus, Infantile spasms, Focal seizure wi... ORPHA:1935
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Agenesis of corpus ... OMIM:617542
Phosphoserine Aminotransferase Deficiency
Hypertonia, Myoclonus, Seizure OMIM:610992
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Bilateral tonic-clonic seizure, Choreoa... OMIM:616230
Combined Saposin Deficiency
Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations, Generalized clonic seizure OMIM:611721
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, Myoclonus, Truncal ataxia, Febrile sei... OMIM:613855
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction ORPHA:401901
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizure OMIM:615924
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Seizure OMIM:606777
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure OMIM:612016
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... OMIM:612736
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Myoclonic Epilepsy Of Infancy
Hemiplegia, Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 ... ORPHA:86909
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure OMIM:618425
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Focal hemiclonic seizure, Tonic seizure, Myoclonus, Myoclonic seizure, ... OMIM:619317
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Hemimegalencephaly
Status epilepticus, Focal motor seizure, Atonic seizure, Myoclonus, Epileptic spasm, Hemiparesis,... ORPHA:99802
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615938
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus OMIM:159900
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonus, Choreoathetosis, Hyperkinetic movements, Seizure OMIM:618497
Developmental And Epileptic Encephalopathy 69
Status epilepticus, Myoclonus, Hyperkinetic movements, Spastic tetraplegia OMIM:618285
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Bilateral tonic-clon... ORPHA:726
Progressive Myoclonic Epilepsy With Dystonia
Status epilepticus, Hemiplegia, Generalized myoclonic seizure, Myoclonus, Abnormal pyramidal sign... ORPHA:352596
Striatonigral Degeneration, Infantile, Mitochondrial
Myoclonus, Babinski sign, Motor tics, Chorea, Frequent falls, Clonus, Poor motor coordination, In... OMIM:500003
Classic Glucose Transporter Type 1 Deficiency Syndrome
Status epilepticus, Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea... ORPHA:71277
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Dysmetria, Myoclonus, Dysdiadochokinesis, Seizure OMIM:256731
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Developmental And Epileptic Encephalopathy 92
Myoclonus, Ataxia, Spasticity, Seizure OMIM:617829
Developmental And Epileptic Encephalopathy 16
Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis OMIM:615338
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Seizure OMIM:261630
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure, Dysmetria, Ataxia OMIM:619191
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Myoclonus, Seizure, Limb tremor, Focal tonic seizure OMIM:300699
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Developmental And Epileptic Encephalopathy 40
Myoclonus, Choreoathetosis, Spasticity, Seizure, Spastic tetraparesis OMIM:617065
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele ORPHA:352682
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, Myoclonus, Limb myoclonus, Febrile seizure (within the age range o... ORPHA:263516
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Ataxia, Myoclonus, Epileptic spasm, Spastic tetraplegia, Seizure OMIM:619971
Dystonia 23
Torticollis, Myoclonus, Head tremor OMIM:614860
Lissencephaly, X-Linked, 1
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Seizure ORPHA:166063
Dravet Syndrome
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... ORPHA:33069
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Involuntary movements, Spasticity OMIM:617282
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria OMIM:611603
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Myoclonus, Agenesis of corpus callosum, Spasticity, Seizure OMIM:617669
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Glycine Encephalopathy
Myoclonus, Agenesis of corpus callosum, Seizure OMIM:605899
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Pro... ORPHA:254343
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity ORPHA:363710
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Myoclonus, Hyperkinetic movements, Chorea, Spasticity, Seizure OMIM:614254
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Polymicrogyria OMIM:604213
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure OMIM:619065
Creutzfeldt-Jakob Disease
Myoclonus, Gait ataxia, Hemiparesis, Extrapyramidal muscular rigidity OMIM:123400
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Coenzyme Q10 Deficiency, Primary, 9
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Dysmetria, Myoclonus, Tremor, Lowe... OMIM:619028
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Myoclonus, Seizure OMIM:610090
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Cortical Malformations, Occipital
Pachygyria, Polymicrogyria OMIM:614115
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Status epilepticus, Clonic seizure, Intention tremor, Myoclonus, Bilateral tonic-clonic seizure w... OMIM:610539
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Thyrocerebrorenal Syndrome
Myoclonus, Nonprogressive cerebellar ataxia, Slurred speech, Seizure ORPHA:3327
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Dysmetria, Myoclonus, Seizure, Agenesis of corpus callosum OMIM:250620
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615937
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Congenital Disorder Of Glycosylation, Type In
Myoclonus, Ataxia, Spasticity, Seizure OMIM:612015
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus OMIM:619651
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Myoclonus, Spasticity, Seizure OMIM:225753
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Generalized-onset seizure, Postural tremor OMIM:254900
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Choreoathetosis OMIM:609056
Mitochondrial Complex I Deficiency, Nuclear Type 31
Myoclonus, Dysmetria, Seizure OMIM:618251
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Generalized myoclonic seiz... ORPHA:139431
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure ORPHA:139485
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... ORPHA:208447
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... ORPHA:178469
Foxg1 Syndrome
Status epilepticus, Motor stereotypy, Myoclonus, Infantile spasms, Hyperkinetic movements, Stereo... ORPHA:561854
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Generalized myoclonic seizure, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadochokine... OMIM:614487
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge OMIM:209970
Myoclonus, Intractable, Neonatal
Athetosis, Myoclonus, Chorea, Seizure OMIM:617235
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Thyrocerebroretinal Syndrome
Myoclonus, Ataxia, Slurred speech, Seizure OMIM:274240
Ceroid Lipofuscinosis, Neuronal, 3
Myoclonus, Parkinsonism, Bilateral tonic-clonic seizure, Seizure, Abnormality of extrapyramidal m... OMIM:204200
Ceroid Lipofuscinosis, Neuronal, 1
Myoclonus, Ataxia, Spasticity, Seizure OMIM:256730
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Generalized tonic seizure, Myoclonus, Epileptic spasm, Stereotypical hand wringing, F... ORPHA:289266
Autosomal Recessive Spastic Paraplegia Type 48
Ataxia, Myoclonus, Parkinsonism, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:306511
Mitochondrial Complex I Deficiency, Nuclear Type 4
Myoclonus, Ataxia, Seizure OMIM:618225
Juvenile Huntington Disease
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chorea, Gait ataxia, Se... ORPHA:248111
Peho-Like Syndrome
Status epilepticus, Myoclonus, Seizure OMIM:617507
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Tremor, Choreoathetosis, Seizure ORPHA:391417
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal basal ganglia morphology, Small basal ganglia, Abnormal autonomic nervous system physiol... ORPHA:300570
Spinocerebellar Ataxia 17
Ataxia, Bradykinesia, Limb ataxia, Dysmetria, Intention tremor, Myoclonus, Parkinsonism, Rigidity... OMIM:607136
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... OMIM:619725
Hyperekplexia 4
Hypertonia, Myoclonus, Seizure OMIM:618011
Developmental And Epileptic Encephalopathy 103
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure... OMIM:619913
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Generalized myoclonic seizure, Babinski sign, Rigidity, Myoclonic spasms, Clonus, Sei... OMIM:614498
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Rigidity, Hyperkinetic movements, Chor... ORPHA:13
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Myoc... OMIM:619092
Developmental And Epileptic Encephalopathy 49
Myoclonus, Spasticity, Seizure OMIM:617281
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology ORPHA:353253
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Abnormality of extrapyramidal motor function, Seizure OMIM:604218
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... ORPHA:454887
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Dysdiadochokinesis, Se... OMIM:618356
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Ataxia, Myoclonus, Spasticity, Seizure OMIM:618426
Developmental And Epileptic Encephalopathy 1
Focal motor seizure, Erratic myoclonus, Hypertonia, Tonic seizure, Generalized myoclonic seizure,... OMIM:308350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Optic atrophy, Type II lissencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Blepharospasm, Hand tremor, Myoclonus, Upper limb postural tremor ORPHA:420485
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Apraxia, Myoclonus, Babinski sign, Seizure OMIM:618193
Schindler Disease, Type I
Myoclonus, Spasticity, Seizure OMIM:609241
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Generalized myoclonic seizure, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadochokine... ORPHA:313772
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Clumsiness, Blepharospasm, General... ORPHA:352582
Leukodystrophy, Hypomyelinating, 11
Tremor, Myoclonus, Spasticity, Ataxia OMIM:616494
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Familial Dyskinesia And Facial Myokymia
Chorea, Myoclonus, Resting tremor, Limb hypertonia ORPHA:324588
Atypical Juvenile Parkinsonism
Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Rigidity, Gait ataxia, Involunt... ORPHA:391411
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Seizure ORPHA:397933
Developmental And Epileptic Encephalopathy 68
Status epilepticus, Exaggerated startle response, Myoclonus, Spasticity, Clonus OMIM:618201
Congenital Hydrocephalus
Hydrocephalus, Bulbous nose, Abnormal cortical gyration, Optic atrophy, Lissencephaly, Ventriculo... ORPHA:2185
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Hyperglycinemia, Lactic Acidosis, And Seizures
Myoclonus, Spastic tetraplegia, Seizure OMIM:614462
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Focal impaired awareness seizure, Myoclonus, Infantile spasms, Cho... ORPHA:485350
Caribbean Parkinsonism
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... ORPHA:97355
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonus, Seizure OMIM:618240
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia OMIM:166990
Mitochondrial Complex I Deficiency, Nuclear Type 19
Athetosis, Myoclonus, Rigidity, Seizure OMIM:618241
Dystonia 28, Childhood-Onset
Torticollis, Retrocollis, Myoclonus, Tremor, Spasticity OMIM:617284
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor OMIM:619862
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Ataxia, Myoclonus, Babinski sign, Rigidity, Tetraparesis, Frequent falls, Cogwheel ri... ORPHA:225154
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Seizure OMIM:617493
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Myoclonus, Babinski sign, Abnormal upper motor neuron morphology, Spasticity, Seizure, Apraxia OMIM:221770
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus OMIM:617244
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Atypical Rett Syndrome
Generalized myoclonic seizure, Hand apraxia, Pill-rolling tremor, Infantile spasms, Stereotypical... ORPHA:3095
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Myoclonus, Spasticity, Seizure, Abnormality of extrapyramidal motor function OMIM:614299
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure OMIM:607876
Hyperekplexia 1
Hypertonia, Exaggerated startle response, Myoclonus, Nocturnal seizures, Frequent falls, Seizure OMIM:149400
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Spastic dysarthria, Progressive s... ORPHA:401866
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Head titubation, Tre... OMIM:618877
Papilloma Of Choroid Plexus
Papilledema, Hydrocephalus, Choroid plexus papilloma OMIM:260500
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Focal impaired awareness seizure, Myoclonus, Cerebral ... OMIM:617600
Nipah Virus Disease
Tremor, Myoclonus, Seizure ORPHA:99825
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Parkinsonism, Rigidity, Gait ataxia, Postural tre... ORPHA:101150
Hereditary Hyperekplexia
Hypertonia, Ataxia, Myoclonus, Rigidity, Spasticity, Seizure, Fasciculations ORPHA:3197
Early-Onset Lafora Body Disease
Spastic tetraparesis, Myoclonus, Ataxia, Seizure ORPHA:324290
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Atonic seizure, Focal impaired awareness seizure, Generalized tonic seizure, My... ORPHA:411986
Biemond Syndrome Type 2
Hydrocephalus, Short stature, Hypogonadotropic hypogonadism, Delayed puberty, Hypogonadism ORPHA:141333
Mitochondrial Dna Depletion Syndrome 19
Myoclonus, Infantile spasms, Tetraparesis, Spasticity, Focal-onset seizure OMIM:618972
Alzheimer Disease 3
Myoclonus, Babinski sign, Apraxia, Seizure, Spastic tetraparesis, Abnormality of extrapyramidal m... OMIM:607822
Severe Neurodegenerative Syndrome With Lipodystrophy
Status epilepticus, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia... ORPHA:363400
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Simplified gyral pattern, Hydrocephalus OMIM:619470
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... ORPHA:397946
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Epilepsy, Progressive Myoclonic, 10
Ataxia, Progressive cerebellar ataxia, Generalized myoclonic seizure, Myoclonus, Spasticity, Spas... OMIM:616640
Combined Oxidative Phosphorylation Deficiency 51
Myoclonus, Rigidity OMIM:619057
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Myoclonus, Babinski sign, Truncal ataxia, Spasticity, Seizure OMIM:252011
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity OMIM:600795
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Intention tremor, Myoclonus, Dysdiadochokinesis, Chorea, Frequent falls, Gait ... ORPHA:251347
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Subependymal Nodular Heterotopia
Focal aware seizure, Limb myoclonus, Partial agenesis of the corpus callosum, Focal-onset seizure... ORPHA:101030
Spinocerebellar Ataxia Type 36
Ataxia, Limb ataxia, Dysmetria, Hand tremor, Intention tremor, Babinski sign, Truncal ataxia, Lim... ORPHA:276198
Dystonia 26, Myoclonic
Torticollis, Myoclonus, Blepharospasm OMIM:616398
Dentatorubral Pallidoluysian Atrophy
Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb ataxia, Dysmetria, Blepha... ORPHA:101
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Myoclonus, Rigidity, Seizure OMIM:300673
Narp Syndrome
Ataxia, Babinski sign, Myoclonic spasms, Progressive gait ataxia, Seizure ORPHA:644
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Myoclonus, Abnormal pyramidal sign, Spasticity, Seizure, Abnormality of e... ORPHA:79279
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Status epilepticus, Hypertonia, Opisthotonus, Myoclonus, Babinski sign, Cerebral palsy, Febrile s... OMIM:619847
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Motor stereotypy, Ataxia, Cortical myoclonus, Atonic seizure, Generalize... ORPHA:168491
Developmental And Epileptic Encephalopathy 101
Myoclonus, Opisthotonus, Seizure OMIM:619814
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl... OMIM:183090
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Depressed nasal brid... OMIM:609637
Combined Oxidative Phosphorylation Deficiency 14
Myoclonus, Seizure OMIM:614946
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Generalized myoclonic seizure, Ataxia OMIM:231000
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hydrocephalus, Anteverted nares OMIM:300884
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Seizure, Oculomotor apraxia, Eyelid myoc... OMIM:618060
X-Linked Dystonia-Parkinsonism
Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response to dopaminergi... ORPHA:53351
Abeta Amyloidosis, Iowa Type
Myoclonus ORPHA:324708
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Optic atrophy, Lissencephaly, Septo-optic dysplasia, Frontal ence... ORPHA:1528
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Chorea, Tremor, Spasticity, Postural tremor, Tongue f... ORPHA:99
Gómez-López-Hernández Syndrome
Anteverted nares, Hydrocephalus, Short stature ORPHA:1532
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Myoclonus, Abnormal pyramidal sign, Babinski sign, Spasticity, Upper motor neuron dysfunc... ORPHA:204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:614830
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Generalized myoclonic seizure, Hyperkinetic movements, Bilateral toni... OMIM:271980
Non-Specific Early-Onset Epileptic Encephalopathy
Status epilepticus, Ataxia, Myoclonus, Limb hypertonia, Rigidity, Tremor, Involuntary movements, ... ORPHA:442835
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Dystonia 34, Myoclonic
Torticollis, Myoclonus, Head tremor, Hand tremor OMIM:619724
Huntington Disease
Clumsiness, Bradykinesia, Poor fine motor coordination, Myoclonus, Babinski sign, Rigidity, Chore... ORPHA:399
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Status epilepticus, Myoclonus, Generalized-onset seizure, Paralysis, Focal-onset seizure ORPHA:83601
Pontocerebellar Hypoplasia, Type 2E
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Tonic seizure, Opisthotonus, M... OMIM:615851
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Status epilepticus, Tonic seizure, Myoclonus, Febrile status epilepticus, Febrile seizure (within... OMIM:612949
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Short stature OMIM:303350
D-Glyceric Aciduria
Myoclonus, Spasticity, Chorea, Seizure ORPHA:941
Riboflavin Transporter Deficiency
Tremor, Myoclonus, Ataxia, Seizure ORPHA:97229
D-Glyceric Aciduria
Status epilepticus, Opisthotonus, Focal clonic seizure, Myoclonus, Tongue thrusting, Bilateral to... OMIM:220120
Pyridoxal Phosphate-Responsive Seizures
Status epilepticus, Hypertonia, Myoclonus, Seizure ORPHA:79096
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Myoclonus, Parkinsonism, Seizure, Apraxia, Oculomotor apraxia ORPHA:1020
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Seizure OMIM:233910
Achondroplasia
Depressed nasal bridge, Hydrocephalus, Neonatal short-limb short stature, Rhizomelia OMIM:100800
Lafora Disease
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Ataxia, Focal im... ORPHA:501
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Myoclonus, Epileptic spasm, Lateral ventricle dilatation, Seizure, Spastic tetraparesis ORPHA:284417
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hydrocephalus, Polymicrogyria, Depressed nasal bridge ORPHA:83473
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Posttransplant Acute Limbic Encephalitis
Myoclonus, Ataxia, Seizure ORPHA:163921
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Myoclonus, Epileptic spasm, Agenesis of corpus callosum, Partial agenesis of the corpus callosum,... ORPHA:500144
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Abnormality of extrapyramidal motor function, Limb myoclonus ORPHA:356
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Diencephalic Syndrome
Optic atrophy, Hydrocephalus ORPHA:1672
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Titubation, Gait ataxia, Seizure ORPHA:98768
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Myoclonus, Epileptic spasm OMIM:619060
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Depressed nasal bridge, Optic atrophy, Short nose, Choanal atres... ORPHA:1914
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Myoclonic Epilepsy Of Lafora
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... OMIM:254780
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Kleeblattschaedel
Hydrocephalus OMIM:148800
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Pettigrew Syndrome
Hydrocephalus, Prominent nose, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Optic atrophy, Type II lissencephaly, Ventriculomegaly, Intrauterine growth retard... ORPHA:272
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Tremor, Gait ataxia OMIM:616505
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Temple Syndrome
Hydrocephalus, Short stature, Depressed nasal bridge, Wide nose, Anteverted nares, Intrauterine g... OMIM:616222
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Bilat... ORPHA:79264
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Aganglionic megacolon OMIM:304100
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Myoclonus, Seizure OMIM:616158
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Myoclonus, Abnormal pyramidal sign, Involuntary movements, Dysmetria OMIM:619780
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus, Short stature ORPHA:2183
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Myoclonus, Lateral ventricle dilatation, Spasticity, Seizure ORPHA:3078
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus, Bulbous nose, Depressed nasal bridge, Anteverted nares, Wide nasal bridge OMIM:600991
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Underdeveloped nasal alae, Wide nasal bridge, Short stature ORPHA:1516
Childhood Absence Epilepsy
Typical absence seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:64280
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upper motor neuron dysf... ORPHA:466722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Optic nerve dysplasia, Type II lissencephaly... OMIM:615287
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Convex nasal ridge, Ventriculomegaly, CSF lymphocytic pleiocytosis, Intrauterine g... OMIM:610333
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Generalized myoclonic seizure, Myoclonus, Infantile spasms, Generalized-onset s... OMIM:300672
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Bulbous nose, Gray matter heterotopia, Communicating hydrocephalus, Optic atrophy, Lissencephaly,... OMIM:615219
Combined Oxidative Phosphorylation Deficiency 27
Status epilepticus, Opisthotonus, Myoclonus, Chorea, Tetraparesis, Bilateral tonic-clonic seizure OMIM:616672
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus OMIM:300864
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Short stature, Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Optic Pathway Glioma
Optic atrophy, Growth delay, Hydrocephalus, Papilledema ORPHA:2086
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Ataxia, Opisthotonus, Myoclonus, Spastic paraplegia, Choreoathetosis, Spasticity, Sei... OMIM:614969
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Short nose, Aganglionic megacolon, Wide nasal bridge OMIM:613603
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Neuraminidase Deficiency
Myoclonus, Slurred speech, Dysmetria, Seizure OMIM:256550
3-Methylglutaconic Aciduria Type 7
Hypertonia, Opisthotonus, Myoclonus, Abnormal pyramidal sign, Progressive extrapyramidal movement... ORPHA:445038
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Polymicrogyria, Lissencephaly, Simplified gyral pattern,... OMIM:616212
Developmental And Epileptic Encephalopathy 72
Infantile spasms, Hyperkinetic movements OMIM:618374
Valinemia
Hyperkinetic movements OMIM:277100
Juvenile Sialidosis Type 2
Ataxia, Generalized myoclonic seizure, Dysmetria, Myoclonus, Spasticity, Seizure, Lower limb spas... ORPHA:93399
Cog8-Cdg
Myoclonus, Ataxia, Seizure ORPHA:95428
Peho Syndrome
Myoclonus, Seizure OMIM:260565
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Sialidosis Type 1
Ataxia, Myoclonus, Tremor, Seizure, Slurred speech ORPHA:812
Unilateral Polymicrogyria
Status epilepticus, Pseudobulbar paralysis, Focal impaired awareness seizure, Poor fine motor coo... ORPHA:268943
Pseudohypoparathyroidism Type 2
Myoclonic spasms, Hypocalcemic seizures ORPHA:94090
Bresek Syndrome
Hydrocephalus, Convex nasal ridge, Optic nerve hypoplasia, Neonatal death, Growth delay, Intraute... ORPHA:85284
Pontocerebellar Hypoplasia, Type 15
Simplified gyral pattern, Hydrocephalus OMIM:619302
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Optic nerve hypoplasia, Hydrocephalus, Polymicrogyria OMIM:615181
Microcephaly-Capillary Malformation Syndrome
Spastic tetraparesis, Myoclonus, Seizure OMIM:614261
Fried Syndrome
Hydrocephalus ORPHA:85335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Type II lissencephaly, Agyria, Lissencephaly, Ventriculomegaly, Simplified gyral p... OMIM:613153
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
Kohlschutter-Tonz Syndrome-Like
Status epilepticus, Motor stereotypy, Ataxia, Generalized tonic seizure, Myoclonus, Nocturnal sei... OMIM:619229
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Choanal atresia OMIM:612247
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Abnormal fifth cranial nerve morphology, Abnormality of in... ORPHA:449563
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Adenylosuccinase Deficiency
Opisthotonus, Myoclonus, Gait ataxia, Spasticity, Seizure OMIM:103050
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Intention tremor, Myoclonus, Abnormal pyramidal sign, Babinski sign, Parkinsonism, ... ORPHA:171695
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Myoclonus, Limb tremor, Head tremor ORPHA:420492
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Short stature, Depressed nasal bridge, Ventriculomegaly, Abnorm... ORPHA:93274
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Wide nasal bridge OMIM:618302
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Short nose, Ventriculomegaly, Anteverted nares, Wide nasal bridge OMIM:618577
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Microcephaly, Hypoplasia of the corpus callosum, Hypoplastic anterior commissure OMIM:616975
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal bridge, Wide nasal base OMIM:616521
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Bilateral tonic-clonic seizure with generalized onset, Myoclonus, Epileptic spasm, Speech apraxia... ORPHA:314655
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Myoclonus, Ataxia, Neonatal death, Seizure OMIM:619167
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lissencephaly, Pachygyria ORPHA:300573
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Depressed nasal bridge, Dilated fourth ventricle, Wide nasal bridge, Dandy-Walker ... OMIM:220220
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Athetosis, Hyperkinetic movements, Spasticity, Seizure OMIM:612073
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Hyperkinetic movements, Choreoathetosis, Involuntary movements OMIM:618218
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Myoclonus, Spasticity, Seizure OMIM:246450
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration, Short nose, Choanal atresia, Anteverted nares ORPHA:1895
Combined Oxidative Phosphorylation Deficiency 11
Myoclonus, Tongue fasciculations, Seizure OMIM:614922
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Spasticity, Seizure ORPHA:364028
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Fasciculations, Vocal cord paresis, Polyminimyoclonus OMIM:619574
Krabbe Disease
Optic atrophy, Hydrocephalus, Decreased nerve conduction velocity, Increased CSF protein OMIM:245200
Coenzyme Q10 Deficiency, Primary, 1
Status epilepticus, Ataxia, Myoclonus, Right hemiplegia, Tremor, Seizure OMIM:607426
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle clonus, Pill-rolling tremor, Parkins... OMIM:612953
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Myoclonus, Babinski sign, Limb hyperton... OMIM:608643
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Opisthotonus, Myoclonus, Hyperkinetic movements, Tremor, Choreoathetosis, Spasticity, Sei... OMIM:616271
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Depressed nasal ridge, Short stature, Short nose, Rhizomelia, Intrauterine growth ... OMIM:300863
Tay-Sachs Disease
Typical absence seizure, Clumsiness, Focal impaired awareness seizure, Exaggerated startle respon... ORPHA:845
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia, Disproportionate short-limb short stature, Depressed nasa... ORPHA:2655
Serotonin Syndrome
Hypertonia, Myoclonus, Rigidity, Tremor, Clonus, Seizure ORPHA:43116
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, Tremor, Seizure ORPHA:98794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Infantile Krabbe Disease
Generalized myoclonic seizure, Opisthotonus, Ankle clonus, Myoclonus, Decerebrate rigidity, Spast... ORPHA:206436
L1 Syndrome
Hydrocephalus, Aganglionic megacolon, Aqueductal stenosis ORPHA:275543
Galloway-Mowat Syndrome 10
Myoclonus OMIM:619609
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Intellectual Developmental Disorder, Autosomal Dominant 42
Status epilepticus, Hemiplegia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awarenes... OMIM:616973
Angelman Syndrome
Status epilepticus, Atypical absence seizure, Ataxia, Atonic seizure, Recurrent hand flapping, Ge... ORPHA:72
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hydrocephalus, Choanal atresia, Convex nasal ridge ORPHA:93262
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker m... OMIM:225790
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Tremor, Bilateral tonic-clonic seizure, Seizure, Upper ... ORPHA:457240
Hemangioblastoma
Hydrocephalus, Neurogenic bladder ORPHA:252054
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Motor stereotypy, Tonic seizure, Myoclonus, Infantile spasms, Myoclonic ... OMIM:619777
Muscle-Eye-Brain Disease
Optic atrophy, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Mend Syndrome
Hydrocephalus, Prominent nasal bridge, Dandy-Walker malformation, Short stature OMIM:300960
Central Precocious Puberty
Proportionate short stature, Hydrocephalus ORPHA:759
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Status epilepticus, Myoclonus, Neonatal death, Spastic tetraplegia, Clonus, Seizure OMIM:619055
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Bulbous nose, Depressed nasal bridge, Prominent nose, Anteverted nares, Wide nasal... ORPHA:2180
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Short nose, Thick nasal alae, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Hydrocephalus, Short nose, Short stature ORPHA:2701
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism OMIM:168601
Japanese Encephalitis
Status epilepticus, Focal motor seizure, Hypertonia, Paucity of anterior horn motor neurons, Opis... ORPHA:79139
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Intrauterine growth retardation, Hydrocephalus, Periventricular heterotopia, Short stature, Depre... OMIM:619833
Congenital Toxoplasmosis
Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly ORPHA:858
Temple Syndrome
Postnatal growth retardation, Hydrocephalus, Short stature ORPHA:254516
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Dysmetria, Hoffmann sign, Ankle clonus, Hemiparesis, Limb myoclonus, Apraxia, Seizure, Sp... ORPHA:139396
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Hydrocephalus, Short nose, Occipital encephalocele OMIM:241800
Metatropic Dysplasia
Depressed nasal bridge, Hydrocephalus, Severe short stature ORPHA:2635
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Abnormal auditory evoked potentials, Short stature OMIM:109120
Chromosome 17P13.1 Deletion Syndrome
Anteverted nares, Hydrocephalus, Prominent nasal bridge OMIM:613776
Hydrocephalus With Associated Malformations
Hydrocephalus, Intrauterine growth retardation OMIM:236640
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Hyperkinetic movements, Truncal ataxia, Chorea, Seizure ORPHA:369847
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Rigidity, Myoclonic spasms, Frequent falls OMIM:184850
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Spina bifida, Cervical myelopathy OMIM:207950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Hydrocephalus ORPHA:99947
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Myoclonus, Infantile spasms, Chorea, Gait ataxia, Spastic tetraplegia, Seizure OMIM:618321
Early Infantile Epileptic Encephalopathy
Atonic seizure, Generalized tonic seizure, Myoclonus, Infantile spasms, Febrile seizure (within t... ORPHA:1934
Neuroferritinopathy
Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Chorea, Involuntary mov... ORPHA:157846
Parkinsonism-Dystonia 1, Infantile-Onset
Hypertonia, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Hyperkinetic m... OMIM:613135
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly ORPHA:89844
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge ORPHA:380
Fatal Familial Insomnia
Myoclonus, Ataxia OMIM:600072
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Myoclonus, Ataxia OMIM:560000
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Gray matter heterotopia, Optic nerve hypoplasia, Dilated fourth ventricle, Polymic... ORPHA:370959
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Depressed nasal bridge, Polymicrogyria, Optic atrophy, Ventriculomegaly ORPHA:60040
3C Syndrome
Hydrocephalus, Short stature, Depressed nasal bridge, Wide nasal bridge, Optic atrophy, Short nos... ORPHA:7
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Status epilepticus, Hypertonia, Ataxia, Myoclonus, Epilepsia partialis continua, Paralysis OMIM:203700
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Depressed nasal bridge, Short nose, Anteverted nares, Short columella ORPHA:171839
Congenital Sialidosis Type 2
Ataxia, Dysmetria, Myoclonus, Spasticity, Seizure ORPHA:93400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Gray matter heterotopia, Encephalocele, Polymicrogyria, Type II lissencephaly, Agy... OMIM:614643
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Short stature, Anencephaly, Spinal dysraphism, Meningocele, Enc... ORPHA:1908
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Depressed nasal ridge, Short stature, Short nose, Rhizomelia, Intrauterine growth ... ORPHA:163966
Crouzon Syndrome
Optic atrophy, Hydrocephalus, Choanal atresia, Convex nasal ridge ORPHA:207
Albers-Schönberg Osteopetrosis
Optic atrophy, Hydrocephalus, Short stature, Facial palsy ORPHA:53
Joubert Syndrome 14
Hydrocephalus, Growth delay, Encephalocele, Prominent nasal bridge, Dandy-Walker malformation OMIM:614424
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Myoclonus, Gait ataxia, Seizure ORPHA:70595
Orofaciodigital Syndrome Type 3
Oculomotor apraxia, Myoclonus, Spasticity, Focal seizure with eyelid myoclonia ORPHA:2752
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Hydrocephalus, Ventriculomegaly, Periventricular heterotopia OMIM:618476
Mental Retardation, Buenos Aires Type
Hydrocephalus, Prominent nose, Wide nasal bridge OMIM:249630
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Multiple Sulfatase Deficiency
Hydrocephalus, Short stature, Depressed nasal bridge, Optic atrophy, Anteverted nares, Abnormalit... ORPHA:585
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Hypogonadism OMIM:601794
Dystonia-Aphonia Syndrome
Myoclonus, Seizure ORPHA:412217
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia OMIM:164180
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Severe short stature, Depressed nasal bridge, Rhizomelia, Disproportionate short s... OMIM:616482
Molybdenum Cofactor Deficiency, Complementation Group B
Hypertonia, Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Seizure OMIM:252160
Walker-Warburg Syndrome
Hydrocephalus, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... ORPHA:899
Intellectual Developmental Disorder, X-Linked 12
Tremor, Hyperkinetic movements, Spasticity, Seizure OMIM:300957
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... ORPHA:2211
Williams-Beuren Region Duplication Syndrome
Broad nasal tip, Hydrocephalus, Ventriculomegaly, Short stature OMIM:609757
Infantile Sialic Acid Storage Disease
Anteverted nares, Hydrocephalus OMIM:269920
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Brain-Lung-Thyroid Syndrome
Ataxia, Clumsiness, Intention tremor, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, ... ORPHA:209905
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Disproportionate short-limb short stature, Mild postnatal growth retardation, Shor... OMIM:101800
Leukodystrophy, Hypomyelinating, 10
Babinski sign, Hyperkinetic movements, Spasticity, Seizure OMIM:616420
Desmosterolosis
Hydrocephalus, Severe short stature, Depressed nasal bridge, Polymicrogyria, Abnormal cortical gy... ORPHA:35107
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Abnormal cortical gyration, Optic atrophy, Ventriculomegaly, Growth delay, Intraut... OMIM:614576
Gorlin Syndrome
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Hydrocephalus, Wide nasal bridge ORPHA:377
Joubert Syndrome
Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Anteverted nares, Encephalocele... ORPHA:475
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Wide nasal bridge OMIM:175700
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms, Poor coordination ORPHA:478029
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor OMIM:619738
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Communicating hydrocephalus, Depressed nasal ridge ORPHA:1861
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Status epilepticus, Ataxia, Lower limb hypertonia, Myoclonus, Babinski sign, Truncal ataxia, Spas... OMIM:301072
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Seizure, Oculomotor apraxia ORPHA:247262
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Abnormality of neuronal migration, Anteverted nares, Encephalocele, Prominent nasa... ORPHA:2318
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Paternal Uniparental Disomy Of Chromosome 1
Myoclonus, Seizure ORPHA:251004
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Vacterl Association With Hydrocephalus
Hydrocephalus, Stillbirth, Aqueductal stenosis OMIM:276950
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Lissencephaly, Anteverted nares, Intrauterine growth retardation, Dandy-Walker mal... OMIM:612938
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Hydrocephalus, Intrauterine growth retardation, Dandy-Walker malformation OMIM:220210
Whipple Disease
Abnormal pyramidal sign, Myoclonus, Ataxia, Seizure ORPHA:3452
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Rhombencephalosynapsis
Hydrocephalus, Short nose, Ventriculomegaly, Septo-optic dysplasia, Anteverted nares, Aganglionic... ORPHA:59315
Joubert Syndrome With Renal Defect
Hydrocephalus, Polymicrogyria, Anteverted nares, Encephalocele, Prominent nasal bridge, Aganglion... ORPHA:220497
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Short stature OMIM:218350
Nmda Receptor Encephalitis
Status epilepticus, Motor stereotypy, Opisthotonus, Myoclonus, Rigidity, Chorea, Choreoathetosis,... ORPHA:217253
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Encephalocele, Gray matter heterotopia OMIM:603671
Optic Atrophy 11
Ataxia, Hyperkinetic movements, Dysmetria OMIM:617302
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Hydrocephalus, Impotence, Oligospermia, Abnormality of the menstrual cyc... ORPHA:91348
Intellectual Developmental Disorder, Autosomal Dominant 35