Gene Summary

Name:
peptidylprolyl isomerase (cyclophilin)-like 6
Synonyms:
2900084F20Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Ppil6em1(IMPC)Hmgu HOM   Early adult 1.71×10-05
tremors Ppil6em1(IMPC)Hmgu HOM   Early adult 4.04×10-05
hydrocephaly Ppil6em1(IMPC)Hmgu HOM Early adult 0.00

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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 Ppil6 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 Ppil6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly, Tremor OMIM:611808
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Schizophrenia 15
Hyperactivity OMIM:613950
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Dystonia 11, Myoclonic
Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors OMIM:159900
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Spasticity, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis ORPHA:2807
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Spasticity, Aggressive behavior, Hyperactivity OMIM:615493
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Attention deficit hyperactivity disorder, Hydrocephalus, Ataxia, Motor stereotypy OMIM:618709
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Limb dyst... OMIM:605407
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Spasticity, Aggressive behavior, Hyperactivity ORPHA:356996
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d... OMIM:620482
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spinocerebellar Ataxia 37
Frequent falls, Dysphagia, Tremor, Ataxia OMIM:615945
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Brunner Syndrome
Self-injurious behavior, Aggressive behavior, Kinetic tremor, Impulsivity OMIM:300615
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Aggressive behavior, Hydrocephalus, Hyperactivity, Spastic tetraparesis, Motor stereotypy OMIM:619470
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Ventriculomegaly, Spasticity, Cerebral palsy, Aggressive behavior, Hyperactivity, Co... OMIM:301107
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Pineocytoma
Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251912
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Violent behavior, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigi... ORPHA:216873
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly, Tremor, Stereotypical hand wringing OMIM:619561
Atypical Teratoid Rhabdoid Tumor
Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia ORPHA:99966
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia,... ORPHA:210571
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia, Dyst... OMIM:615924
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Agitation, Clumsiness, Aggressive behavior, ... ORPHA:100973
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Hyperactivity, Ataxia OMIM:613402
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Dandy-Walker Syndrome
Truncal ataxia, Dilated fourth ventricle, Hydrocephalus OMIM:220200
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spasticity, Ankle clonus, Babinski sign, Hyperactivity, Spastic tetraplegia OMIM:616657
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinso... OMIM:619725
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia OMIM:224500
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Urocanase Deficiency
Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia OMIM:276880
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp OMIM:614860
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Dilated third ventricle, Spastic paraparesis, Resting tremor, Lateral ventricle dilat... ORPHA:363654
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Progressive extrapyramidal movement disorder, Chorea, Abnormality of ext... ORPHA:382
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia, Dysphagia OMIM:128235
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy... ORPHA:251282
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Dysphagia, Intention tremor OMIM:302500
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Ventriculomegaly, Spasticity, Chorea, Gait ataxia, Abnormality of extrapyramidal motor function, ... ORPHA:500180
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Increased CSF homovanillic acid concentration, Chorea, Limb dystonia, Cogwheel... OMIM:613135
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Intellectual Developmental Disorder, Autosomal Recessive 48
Aggressive behavior, Inappropriate laughter, Tremor, Self-mutilation OMIM:616269
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Alexander Disease
Increased CSF protein concentration, Spasticity, Dysmetria, Babinski sign, Hydrocephalus, Ataxia,... OMIM:203450
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Lower limb spasticity, Ataxia, Impul... OMIM:619028
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ventriculomegaly, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, B... OMIM:615362
Juvenile Huntington Disease
Ventriculomegaly, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Hyperactivity, Ataxia, Brad... ORPHA:248111
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Dysphagia, Choreoathetosis OMIM:261630
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Masa Syndrome
Spastic paraplegia, Ventriculomegaly, Paraplegia, Lower limb spasticity, Hydrocephalus OMIM:303350
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
1Q21.1 Microduplication Syndrome
Attention deficit hyperactivity disorder, Hydrocephalus, Hypertonia ORPHA:250994
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... ORPHA:71517
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Hypertonia, Episodic ataxia OMIM:234500
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinsonism, Hyperto... OMIM:619738
Fried Syndrome
Aggressive behavior, Hydrocephalus, Spastic diplegia ORPHA:85335
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Stxbp1-Related Encephalopathy
Spasticity, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia, Dysphagia OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia OMIM:615768
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopaminergic med... OMIM:616710
Hyperphenylalaninemia, Bh4-Deficient, A
Decreased CSF 5-hydroxyindolacetic acid concentration, Tremor, Rigidity, Dystonia, Parkinsonism, ... OMIM:261640
Distal 7Q11.23 Microduplication Syndrome
Attention deficit hyperactivity disorder, Hydrocephalus, Frontal encephalocele ORPHA:261102
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ... ORPHA:314978
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Glycine Encephalopathy 1
Myoclonus, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... OMIM:617284
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... ORPHA:521406
Glut1 Deficiency Syndrome 2
Hypoglycorrhachia, Increased CSF lactate, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Nasu-Hakola Disease
Ventriculomegaly, Spasticity, Chorea, Disinhibition, Oculomotor apraxia, Hydrocephalus ORPHA:2770
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Developmental And Epileptic Encephalopathy 36
Abnormal pyramidal sign, Hydrocephalus, Self-mutilation, Abnormality of extrapyramidal motor func... OMIM:300884
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Bradyk... OMIM:213600
Pontocerebellar Hypoplasia, Type 14
Dystonia, Spastic tetraplegia, Hydrocephalus, Hypertonia OMIM:619301
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Spasticity OMIM:600348
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Aggressive behavior, Lower limb spasticity, Paraparesis, Hypertonia,... OMIM:612736
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Elevated CSF gamma-aminobutyric acid concentration, Hyperkinetic movemen... OMIM:271980
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Alexander Disease Type I
Spasticity, Abnormal pyramidal sign, Hydrocephalus, Ataxia, Dysphagia, Palatal tremor ORPHA:363717
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Lopes-Maciel-Rodan Syndrome
Spasticity, Bradykinesia, Bruxism, Tremor, Ankle clonus, Motor stereotypy, Abnormal pyramidal sig... OMIM:617435
Pontocerebellar Hypoplasia, Type 15
Dystonia, Spastic tetraplegia, Hydrocephalus, Hypertonia OMIM:619302
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Dilated fourth ventricle, Limb ataxia, Gait ataxia, Dysmetria, Tremor... OMIM:213200
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Increased CSF lactate, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebell... ORPHA:139485
Kleeblattschaedel
Hydrocephalus OMIM:148800
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Tremor, Dysmetria, Rigidity, Hyperactivity OMIM:618090
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand tremor, Postural tremor, Restless legs, Babinski sign, Hydrocephalus, Vocal cord paralysis, ... ORPHA:99947
Caribbean Parkinsonism
Ventriculomegaly, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinso... ORPHA:97355
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Babinski sign, Spasticity, Abnormal pyramidal sign, Hydrocephalus OMIM:615599
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Babinski sign, Spasticity, Abnormal pyramidal sign, Hydrocephalus ORPHA:397951
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Spasticity, Bruxism, Tremor, Paroxysmal bursts of laughter, Hyperactivit... OMIM:618718
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Dystonia ORPHA:329284
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Aggressive behavior, Hydrocephalus, Self-mutilation OMIM:616521
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Rigidity, Dystonia, Clumsiness, Parkinsonism, Bradykinesia, Decr... OMIM:619911
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251915
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Spasticity, Hydrocephalus, Spastic paraplegia OMIM:307000
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia, Dysphagia OMIM:617916
Hsd10 Disease
Ventriculomegaly, Spastic paraparesis, Myoclonus, Tremor, Rigidity, Ataxia, Dysphagia, Choreoathe... ORPHA:391417
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Spasticity, Hemiplegia/hemiparesis, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to ... ORPHA:240085
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Aggressive behavior, Hydrocephalus, Hyperactivity, Restlessness, Agitation OMIM:300558
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Abnormal fear-induced behavior, Tremor, Aggressive behavior, Parkinsonism, Lower ... ORPHA:3077
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Ataxia OMIM:617917
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Head tremor, Limb ataxia, Dys... ORPHA:276198
Central Neurocytoma
Babinski sign, Abnormal lateral ventricle morphology, Hydrocephalus, Ataxia ORPHA:73256
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Inappropriate behavior, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, ... ORPHA:99750
Spinocerebellar Ataxia 50
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Ataxia OMIM:618637
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Spasticity, Increased CSF lactate, Incoordination, Increased CSF lysine concent... OMIM:616034
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Neuronal Intranuclear Inclusion Disease
Increased CSF protein concentration, Ventriculomegaly, Tremor, Rigidity, Ataxia, CSF pleocytosis OMIM:603472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Dysphagia, Tremor, Fasciculations ORPHA:276435
Atypical Rett Syndrome
Restrictive behavior, Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Han... ORPHA:3095
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... OMIM:600116
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... ORPHA:397946
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... OMIM:606693
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Increased CSF interferon alpha, Dystonia, CSF pleocytosis OMIM:615010
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,... OMIM:617145
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia ORPHA:1532
L1 Syndrome
Aqueductal stenosis, Spasticity, Hydrocephalus, Hemiplegia/hemiparesis ORPHA:275543
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Myoclonic spasms, Ataxia, Dystonia,... ORPHA:79263
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination OMIM:617182
Spinocerebellar Ataxia, Autosomal Recessive 13
Dilated fourth ventricle, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdia... OMIM:614831
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Spasticity, CSF lymphocytic pleiocytosis, Hydrocephalus, Dystonia OMIM:610333
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Spastic tetraplegia, Hydrocephalus OMIM:300886
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at... OMIM:608768
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Compulsive behaviors, Titubation OMIM:619405
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Hyperphenylalaninemia, Bh4-Deficient, B
Increased CSF phenylalanine concentration, Tremor, Rigidity, Hyperkinetic movements, Limb hyperto... OMIM:233910
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Coenzyme Q10 Deficiency, Primary, 4
Increased CSF lactate, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia OMIM:612016
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Self-injurious behavior, Ventriculomegaly, Chorea, Myoclonus, Aggr... ORPHA:485350
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Myoclonus, Tremor, Clumsiness, Dysphagia, Eyelid myoclonus, Frequent falls ORPHA:2590
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Dilated fourth ventricle, Gait ataxia, Dysmetria, Tremor, Oc... ORPHA:1170
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus, Spasticity OMIM:304100
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Frequent temper tantrums, Aggressive behavior, Apraxia, Attention deficit hyper... OMIM:620141
Spinocerebellar Ataxia 2
Spasticity, Fasciculations, Dilated fourth ventricle, Limb ataxia, Myoclonus, Action tremor, Dysm... OMIM:183090
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Opisthotonus, Hydrocephalus, Spina bifida, Ataxia, Dysphagia OMIM:207950
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis OMIM:618049
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Dysphagia OMIM:616795
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Hydrocephalus, Hypertonia, Ataxia OMIM:618174
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Spinocerebellar Ataxia Type 27
Hand tremor, Limb ataxia, Gait ataxia, Tremor, Aggressive behavior, Truncal ataxia ORPHA:98764
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ventriculomegaly, Tremor, Attention deficit hyperactivity disorder, Hypertonia, Ataxia OMIM:619556
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Rigidity, Aggressive behavior, Hyperactivity, Hypertonia, Choreoathetosis OMIM:620023
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Tremor, Fasciculations OMIM:313200
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Ventriculomegaly, Hyperactivity, Spasticity ORPHA:457260
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Chorea, Gait ataxia, Self-mutilation, Lower limb spasticity, Hyperactivity, Paroxysmal bursts of ... OMIM:620445
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Myoclonus, Tremor, Dysphagia, Frequent falls OMIM:159950
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Obsessi... OMIM:300623
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... OMIM:618877
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Bruxism, Tremor, Dystonia, Babinski sign... OMIM:300055
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Aggressive behavior, Parkinson... OMIM:137440
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Ventriculomegaly, Hyperactivity, Spasticity OMIM:615286
Neuroferritinopathy
Blepharospasm, Increased CSF protein concentration, Involuntary movements, Arm dystonia, Resting ... ORPHA:157846
Late-Infantile/Juvenile Krabbe Disease
Increased CSF protein concentration, Spastic paraparesis, Neuromuscular dysphagia, Hemiplegia, Sp... ORPHA:206443
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdiadochokinesis OMIM:610185
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, Torsion dyst... OMIM:128100
Postencephalitic Parkinsonism
Abnormal CSF protein concentration, Involuntary movements, Oculogyric crisis, Resting tremor, Cog... ORPHA:97349
Oxoglutaric Aciduria
Hydrocephalus, Hypertonia, Ataxia ORPHA:31
Hyperlysinemia, Type I
Elevated CSF saccharopine concentration, Increased CSF lysine concentration, Clumsiness, Decrease... OMIM:238700
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Dystonia OMIM:300894
Pettigrew Syndrome
Self-injurious behavior, Ventriculomegaly, Spasticity, Gait ataxia, Stereotypical hand wringing, ... OMIM:304340
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Neuromuscular dysphagia, Progressive extrapyramidal muscular rigidity, Axial dysto... ORPHA:240071
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Myoclonus, Gait ataxia, Tremor,... ORPHA:363400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Dysphagia, Tremor OMIM:607734
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia ORPHA:70594
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity... OMIM:607483
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Behr Syndrome
Dysmetria, Tremor, Babinski sign, Dysphagia, Ataxia, Truncal ataxia, Progressive spasticity, Freq... OMIM:210000
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Chorea, Myoclonus, Recurrent hand flapping, Attention deficit hyperactivity disor... OMIM:617600
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ventriculomegaly, Dysmetria, Tremor, Aggressive behavior, Limb hypertonia, Hypertonia, Ataxia, Se... OMIM:617710
Lissencephaly 5
Spastic paraplegia, Occipital encephalocele, Hydrocephalus OMIM:615191
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia, Meningocele, Holoprosencephaly ORPHA:588
4H Leukodystrophy
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... ORPHA:289494
Oculopharyngodistal Myopathy 3
Increased CSF protein concentration, Dysphagia, Tremor, Ataxia OMIM:619473
Spinocerebellar Ataxia With Epilepsy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a... ORPHA:254881
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Ventriculomegaly, Bruxism, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder,... OMIM:618342
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Dysmetria, Tremor, Babinski sign, Ataxia, Dystonia, Dysphagia OMIM:607694
Aromatic L-Amino Acid Decarboxylase Deficiency
Decreased CSF 5-hydroxyindolacetic acid concentration, Oculogyric crisis, Tremor, Babinski sign, ... ORPHA:35708
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Dystonia, Babinski sign, Hyperactiv... OMIM:610217
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Ventriculomegaly, Chorea, Limb dystonia, Tremor, Rigidity, Dystonia, Sub... ORPHA:25
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Spasticity, Facial-lingual fasciculations, Myoclonus, Hydrocephalus, Hyperactiv... OMIM:617281
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Abnormality of coordination, Myoclonus, Tremor, Rigidity, Atte... ORPHA:442835
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Tremor, Ankle clonus, Babinski sign, Apraxia, Abnormal pyramidal sign, Atte... ORPHA:52368
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Dysphagia, Tremor OMIM:304700
Spinocerebellar Ataxia Type 21
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell... ORPHA:98773
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Perry Syndrome
Inappropriate behavior, Bradykinesia, Tremor, Rigidity, Disinhibition, Parkinsonism, Dystonia OMIM:168605
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Obsessive-compulsive trait, Tremor, Ataxia, Bradykinesia, Poor fine motor coordin... ORPHA:36387
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls OMIM:616719
Myopathy With Extrapyramidal Signs
Increased CSF protein concentration, Chorea, Tremor, Abnormality of extrapyramidal motor function... OMIM:615673
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Babinski sign, Lower limb spasticity, Clonus, Hyperactivity, Upper limb spast... OMIM:609727
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Gait ataxia, Myoclonus, Tremor, Hypertonia, Ataxia, Motor stereotypy OMIM:619092
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Inherited Creutzfeldt-Jakob Disease
Increased CSF protein concentration, Progressive extrapyramidal muscular rigidity, Chorea, Spasti... ORPHA:282166
Classic Phenylketonuria
Self-injurious behavior, Hemiplegia, Paraplegia, Tremor, Attention deficit hyperactivity disorder... ORPHA:79254
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Brain Dopamine-Serotonin Vesicular Transport Disease
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy... ORPHA:352649
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive... OMIM:245200
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Hand tremor, Incoordination, Dysmetria, Tremor, Babinski sign, Paraparesis, Dysphagia, Frequent f... OMIM:302800
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Spina bifida occulta... OMIM:618060
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa... OMIM:617013
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Hemiparesis, Disinhibition, Clumsiness, Paralysi... ORPHA:43
Glutaric Acidemia I
Lateral ventricle dilatation, Rigidity, Opisthotonus, Hydrocephalus, Dystonia, Choreoathetosis, S... OMIM:231670
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Dandy-Walker Malformation With Postaxial Polydactyly
Truncal ataxia, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Nipah Virus Disease
Myoclonus, Tremor, Anorexia ORPHA:99825
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Increased CSF lactate, Tremor, Babinski sign, Spastic ataxia, Clumsiness, Hypertonia, Upper motor... ORPHA:137898
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,... ORPHA:96
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Increased CSF lactate, Tremor, Dystonia, Dysphagia, Choreoathetosis OMIM:617664
Oculopharyngodistal Myopathy 4
Postural tremor, Dysphagia, Tremor OMIM:619790
Williams-Beuren Region Duplication Syndrome
Attention deficit hyperactivity disorder, Speech apraxia, Ventriculomegaly, Hydrocephalus OMIM:609757
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Aggressive behavior, Oculomotor apraxia, Hyperactivity, At... OMIM:612716
X-Linked Creatine Transporter Deficiency
Chorea, Self-mutilation, Hyperactivity, Hypertonia, Ataxia, Dystonia, Athetosis ORPHA:52503
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Ventriculomegaly, Spasticity, Spastic paraplegia, Myoclonus, Opisthotonus,... OMIM:614969
Pyruvate Dehydrogenase Deficiency
Ventriculomegaly, Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia, ... ORPHA:765
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Hydrocephalus ORPHA:2181
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Parkinson Disease, Late-Onset
Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Dysphagia OMIM:168600
Cystathioninuria
Tremor ORPHA:212
Coach Syndrome 2
Oculomotor apraxia, Hydrocephalus OMIM:619111
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Generalized dystonia, Intention tremor, Tremor, Progressive spastic quadriple... OMIM:312080
Perry Syndrome
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Intellectual Developmental Disorder, Autosomal Dominant 65
Clumsiness, Attention deficit hyperactivity disorder, Aggressive behavior, Ataxia, Compulsive beh... OMIM:619320
Amelocerebrohypohidrotic Syndrome
Spasticity, Hydrocephalus ORPHA:1946
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Hemiparesis ORPHA:398189
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Ventriculomegaly, Myelopathy, Tetraparesis, Increased CSF lactate, Tremor, R... OMIM:617186
Parkinson Disease 20, Early-Onset
Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia, Dy... OMIM:615530
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Dysphagia, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Tremor, Oculomotor apraxia, Ataxia, Truncal ataxia, Dystonia OMIM:208920
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi... ORPHA:199351
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Ventriculomegaly, Cerebral palsy, Aggressive behavior, Colpocephaly, Hyd... OMIM:619833
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Hemiparesis OMIM:617542
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Babinski ... OMIM:614298
Pitt-Hopkins-Like Syndrome 1
Spasticity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia,... OMIM:610042
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Adenylosuccinase Deficiency
Spasticity, Hemiplegia, Inappropriate laughter, Gait ataxia, Myoclonus, Self-mutilation, Opisthot... OMIM:103050
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia OMIM:616586
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Temple Syndrome
Polyphagia, Hydrocephalus ORPHA:254516
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Ventriculomegaly, Hyperactivity, Self-biting OMIM:618314
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Ventriculomegaly, Dilated third ventricle, Obsessive-compulsive trait, ... ORPHA:500055
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Ataxia OMIM:607876
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Phonic tics, Spasticity, Obsessive-compulsive trait, Tremor, Rigidity, Dystonia, B... OMIM:234200
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Spasticity, Inappropriate laughter, Rigidity, Hydrocephalus, Ataxia, Spastic te... OMIM:618476
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Spastic tetraparesis, Hydrocephalus, Hypertonia ORPHA:171839
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Houge-Janssens Syndrome 1
Ventriculomegaly, Gait ataxia, Hydrocephalus OMIM:616355
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Abnormal pyramidal sign, Clo... ORPHA:370959
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hydrocephalus, Impulsivity, Hyperactivity ORPHA:8
Cerebral Visual Impairment
Cerebral palsy, Clumsiness, Attention deficit hyperactivity disorder, Oculomotor apraxia, Hydroce... ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Increased CSF protein concentration, Spasticity, Tetraparesis, Gait a... ORPHA:99027
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Young-Onset Parkinson Disease
Spasticity, Bradykinesia, Restless legs, Tremor, Rigidity, Impulsivity, Dystonia, Agitation ORPHA:2828
Edinburgh Malformation Syndrome
Hydrocephalus, Hypertonia ORPHA:1895
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Limb myoclonus, Dysmetria, Hemiparesis, Ankle clonus, Hoffmann sign, Apraxia, Lower l... ORPHA:139396
Houge-Janssens Syndrome 2
Ventriculomegaly, Gait ataxia, Hydrocephalus OMIM:616362
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Abnormal eating behavior, Myoclonus, Recurrent hand flapping, Tremor, Ton... ORPHA:98794
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Speech apraxia, Recurrent hand flapping, Tremor, Aggressive behavior, Attention def... OMIM:619680
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Oculomotor apraxia, Hydrocephalus OMIM:615630
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus OMIM:601794
Adams-Oliver Syndrome 2
Hydrocephalus, Limb hypertonia, Lateral ventricle dilatation OMIM:614219
Amyloidosis, Hereditary Systemic 1
Increased CSF protein concentration, Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Tr... OMIM:105210
Progressive Supranuclear Palsy
Blepharospasm, Bradykinesia, Tremor, Rigidity, Dystonia, Dysphagia, Impulsivity ORPHA:683
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Alexander Disease
Self-injurious behavior, Spasticity, Chorea, Tremor, Abnormal pyramidal sign, Clonus, Hydrocephal... ORPHA:58
Wars2-Related Combined Oxidative Phosphorylation Defect
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Limb dystonia, Dysmetri... ORPHA:572798
Tay-Sachs Disease
Ventriculomegaly, Decerebrate rigidity, Laryngeal dystonia, Incoordination, Fasciculations, Myocl... ORPHA:845
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Purine Nucleoside Phosphorylase Deficiency
Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, Hyperactivity, ... ORPHA:760
Joubert Syndrome With Renal Defect
Encephalocele, Tremor, Oculomotor apraxia, Hydrocephalus, Ataxia ORPHA:220497
Isolated Posterior Meningocele
Paraplegia, Hydrocephalus, Lipomyelomeningocele, Hypertonia, Meningocele, Occipital meningocele, ... ORPHA:268810
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Nephronophthisis 18
Hydrocephalus OMIM:615862
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Spasticity, Hydrocephalus, Ataxia OMIM:272200
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Tremor, Rigidity, Parkins... ORPHA:48818
Joubert Syndrome
Encephalocele, Tremor, Oculomotor apraxia, Hydrocephalus, Ataxia ORPHA:475
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly ORPHA:1908
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... OMIM:606002
Hyperlysinemia
Poor motor coordination, Increased CSF lysine concentration, Dysmetria, Tremor, Neck hypertonia, ... ORPHA:2203
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Griscelli Syndrome
Hydrocephalus, Spasticity, Encephalocele, Ataxia ORPHA:381
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Hand tremor ORPHA:99819
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus OMIM:175700
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor OMIM:250800
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Choreoacanthocytosis
Lateral ventricle dilatation, Resting tremor, Limb dystonia, Hair-pulling, Parkinsonism, Lingual ... ORPHA:2388
Medulloblastoma
Dysmetria, Hydrocephalus, Ataxia, Cerebellar ataxia associated with quadrupedal gait, Intention t... ORPHA:616
Joubert Syndrome With Ocular Defect
Encephalocele, Tremor, Oculomotor apraxia, Hydrocephalus, Ataxia ORPHA:220493
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Hemangioblastoma
Hydrocephalus ORPHA:252054
Alternating Hemiplegia Of Childhood
Episodic hemiplegia, Tetraparesis, Oral-pharyngeal dysphagia, Anorexia, Chorea, Tremor, Rigidity,... ORPHA:2131
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Ventriculomegaly, Increased CSF citrulline concentration, Increased CSF... ORPHA:3008
Whipple Disease
Ataxia, Polydipsia, Myoclonus, Abnormal pyramidal sign, Hydrocephalus, Anorexia ORPHA:3452
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Arachnoid Cyst
Enlarged fossa interpeduncularis, Tetraparesis, Encephalocele, Hemiparesis, Disinhibition, Parapa... ORPHA:2356
Dural Sinus Malformation
Myelopathy, Tetraparesis, Hemiparesis, Parkinsonism, Hydrocephalus, Ataxia, Poor coordination ORPHA:97339
Arachnoiditis
Hydrocephalus ORPHA:137817
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Dilated third ventricle, Head-banging, Lateral ventricle dilatation, Fre... OMIM:619575
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Congenital Sialidosis Type 2
Spasticity, Myoclonus, Dysmetria, Hydrocephalus, Ataxia ORPHA:93400
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Hand tremor ORPHA:424
Tenorio Syndrome
Clumsiness, Ventriculomegaly, Hydrocephalus, Cerebral palsy OMIM:616260
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Addictive alcohol use, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Spastic paraparesis, Hemiparesis, Lower limb spasticity, Hydrocephalus, Ataxia,... ORPHA:395
Serotonin Syndrome
Myoclonus, Tremor, Rigidity, Clonus, Hypertonia, Restlessness, Agitation ORPHA:43116
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus, Lower limb hypertonia ORPHA:2169
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Lateral ventricle dilatation, Spastic ataxia, Oculomotor apraxia, Torticollis, Normal... ORPHA:300570
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Ataxia, Meningocele, Dandy-Walker malformation OMIM:614424
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hemiplegia/hemiparesis, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Crouzon Syndrome
Hydrocephalus ORPHA:207
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus OMIM:615219
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Progressive spastic quadriplegia, Isometric tremor, Clonus, Torticollis, Ataxia, Tics... OMIM:619475
Temple Syndrome