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Gene: Golga1 MGI:1924149

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

golgin A1

Synonyms:

2210418B03Rik, awag, golgin-97, Golgi97, 0710001G09Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 Golga1 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.

Human diseases associated with Golga1 (0 diseases)
Human diseases predicted to be associated with Golga1 (966 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Golga1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertrophic Neuropathy And Cataract	Cataract, Increased CSF protein concentration	OMIM:239900
Spastic Paraparesis And Deafness	Tremor, Cataract, Hearing impairment, Spastic paraparesis	OMIM:312910
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function,...	OMIM:165300
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract, Hearing impairment	OMIM:120040
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly	OMIM:611808
Epilepsy, Familial Adult Myoclonic, 1	Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,...	OMIM:601068
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract, Ataxia	ORPHA:1397
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Cataract, Hearing impairment, Hand tremor, Spastic dysarthria, Progressive...	ORPHA:401830
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen...	OMIM:615127
Cataract-Ataxia-Deafness Syndrome	Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Developmen...	ORPHA:1368
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract, Dandy-Walker malformation	ORPHA:73245
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Giant soma...	OMIM:613608
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Abnormal antihelix morphology, Cataract, Hearing impairment	OMIM:274205
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia	ORPHA:2807
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Hearing impairment	OMIM:300719
Nathalie Syndrome	Sensorineural hearing impairment, Cataract	ORPHA:2663
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Chorea, Remitting, With Nystagmus And Cataract	Chorea, Cataract	OMIM:601372
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Hearing impairment, Gait ataxia	ORPHA:217012
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Spastic ataxia, Corneal dystrophy, Developmental cataract	OMIM:271320
Spastic Paraparesis-Deafness Syndrome	Cataract, Ataxia, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Spastic paraparesis	ORPHA:2815
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Cataract 11, Multiple Types	Hypertonia, Chorea, Cataract, Developmental cataract	OMIM:610623
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy, Ataxia, Progressive cerebellar ataxia, Upper motor neuron dys...	ORPHA:3177
Dysequilibrium Syndrome	Cerebral palsy, Cataract, Ataxia	ORPHA:1766
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Ataxia, Corneal dystrophy, Hemiplegia/hemiparesis, Optic atrophy, Developmental c...	ORPHA:2572
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Sensorineural hearing impairment, Cataract, Developmental cataract	OMIM:613076
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Hearing impairment	OMIM:614369
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Increased CSF homovanillic a...	OMIM:613135
Developmental And Epileptic Encephalopathy 97	Tremor, Ventriculomegaly, Hypsarrhythmia	OMIM:619561
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy	ORPHA:1490
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac...	OMIM:619279
Kleeblattschaedel	Hydrocephalus, Recurrent corneal erosions	OMIM:148800
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus, EEG with generalized epileptiform discharges	OMIM:616187
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Atypical Teratoid Rhabdoid Tumor	Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia	ORPHA:99966
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Astigmatism, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spast...	OMIM:617284
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Sensorineural hearing impairment, Heterochromia iridis	ORPHA:66633
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Cataract, Ataxia	OMIM:278780
Trichomegaly	Cataract	OMIM:190330
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Biemond Syndrome Ii	Hydrocephalus, Iris coloboma	OMIM:210350
Alexander Disease	Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Microcoria, Palatal tremor, Increase...	OMIM:203450
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus, Interictal epileptiform activity	OMIM:615400
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Monomelic Amyotrophy	Tremor, Fasciculations, Abnormality of peripheral nerve conduction	ORPHA:65684
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Stxbp1-Related Encephalopathy	Ataxia, EEG with abnormally slow frequencies, Tremor, Spastic tetraplegia, Multifocal epileptifor...	ORPHA:599373
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Combined Oxidative Phosphorylation Deficiency 13	Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Increased CSF la...	OMIM:614932
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Hydrocephalus, Optic atrophy, Spastic tetraparesis	OMIM:619470
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co...	OMIM:607876
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Increased CSF lactate, Choreoathetosis, EEG abnormality, Dystonia, Hypoglycorrhachia	OMIM:612126
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Truncal ataxia	OMIM:220200
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ataxia, Ventriculomegaly	OMIM:618709
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Babinski...	OMIM:612674
Gómez-López-Hernández Syndrome	Low-set ears, Hydrocephalus, Corneal opacity, Ataxia	ORPHA:1532
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Developmental cataract, Ocular anterior segment dysgenesi...	ORPHA:324416
Spinocerebellar Ataxia Type 38	Tremor, Gait ataxia	ORPHA:423296
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	EEG abnormality, Hydrocephalus, Hearing impairment	ORPHA:1008
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Nathalie Syndrome	Cataract, Hearing impairment	OMIM:255990
Corneal Dystrophy And Perceptive Deafness	Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
1Q21.1 Microduplication Syndrome	Hypertonia, Hydrocephalus, Cataract	ORPHA:250994
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C...	ORPHA:216873
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cataract, Ataxia, Cochlear degeneration	ORPHA:3233
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Ataxia, Tremor, CSF pleocytosis, Rigidity, Decreased s...	OMIM:603472
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Abnormal cerebrospinal fluid morphology, Tremor, Babinski ...	ORPHA:251282
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Spastic Paraplegia 46, Autosomal Recessive	Lower limb spasticity, Cataract, Babinski sign, Spastic paraplegia, Hand tremor, Ankle clonus, Up...	OMIM:614409
Lissencephaly 5	Occipital encephalocele, Cataract, Hydrocephalus, Spastic paraplegia, Optic atrophy, Hearing impa...	OMIM:615191
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Muscle-Eye-Brain Disease	Cataract, Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Optic atrophy, EEG abnormality, Hyp...	ORPHA:588
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Galactosemia Iv	Cataract	OMIM:618881
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Spinocerebellar Ataxia Type 37	Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Trunc...	ORPHA:363710
Migraine, Familial Hemiplegic, 1	Tremor, Hemiplegia, Ataxia, Hemiparesis	OMIM:141500
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Chudley-Mccullough Syndrome	Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly	OMIM:604213
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later...	ORPHA:363654
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	EEG with burst suppression, Hydrocephalus	OMIM:266100
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclon...	OMIM:615362
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Leukoencephalopathy With Vanishing White Matter 2	Spasticity, Cataract, Optic atrophy	OMIM:620312
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ...	ORPHA:314978
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Increased CSF lactate, Progressive cerebellar ataxia, Myoclonus,...	ORPHA:139485
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig...	OMIM:620158
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Rigidity, Anisocoria, Pseudoexfoliation, Pigment deposition i...	OMIM:177650
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Ataxia, Abnormal pyramidal sign, Dysmetria, Microcornea, Abnormality of peripheral nerv...	ORPHA:48431
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Abnormal nerve conduction velocity, Hearing impairment	ORPHA:101075
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi...	OMIM:618587
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Congenital Hydrocephalus	Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Colpoce...	ORPHA:2185
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Cataract, Postural tremor, Sensorineural hearing impairment, Babinski sign...	OMIM:270800
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Hypertonia, Spas...	OMIM:609260
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Abnormal pyramidal sign, Optic atrophy, Hypsarrhythmia, Abnormality of extrapyrami...	OMIM:300884
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Sensorineural hearin...	ORPHA:52368
Autosomal Recessive Spastic Paraplegia Type 44	Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm...	ORPHA:320401
Galactosemia Ii	Cataract	OMIM:230200
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia	OMIM:617836
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Masa Syndrome	Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Paraplegia, Ventriculomegaly	OMIM:303350
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz)	OMIM:616366
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Developmental cataract	OMIM:600559
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Hearing impairment, Limb dystonia	OMIM:620270
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Decreased nerve conduction velocity, Ataxia, Hearing impairment	ORPHA:101078
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Hydrocephalus, Optic atrophy, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Hyper...	OMIM:618174
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fasciculations, Upper ...	ORPHA:276435
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ...	ORPHA:206443
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebellar ataxia associate...	OMIM:224050
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Hypertonia, Spastic tetraplegia, Dystonia	OMIM:619302
Fried Syndrome	Hydrocephalus, Macrotia, Spastic diplegia, Hearing impairment	ORPHA:85335
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Hydrocephalus, Sensorineural hearing impairm...	OMIM:109120
Ravine Syndrome	Spasticity, Ataxia, Abnormal auditory evoked potentials	ORPHA:99852
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Cataract,...	OMIM:162400
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Developmental And Epileptic Encephalopathy 35	Cataract, Limb tremor	OMIM:616647
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Postural tremor, Hydrocephalus, Babinski sign, Vocal cord paralysis, Optic atrophy, Hand tremor, ...	ORPHA:99947
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Slurred speech, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Ankle clonu...	ORPHA:284289
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, EEG abnormality, Ataxia, Gait ataxia	OMIM:617831
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Martsolf Syndrome 2	Cataract, Spastic diplegia, Developmental cataract, Lateral ventricle dilatation, Macrotia	OMIM:619420
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hydrocephalus, Hypoplasia of the ...	OMIM:614195
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Cataract, Tongue fasciculations, Ventriculomegaly	OMIM:619851
2,4-Dienoyl-Coa Reductase Deficiency	Incoordination, Ataxia, Clonus, Hydrocephalus, Optic atrophy, Tetraplegia, Increased CSF lactate,...	OMIM:616034
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract, Spastic tetraparesis, Spasticity, Macrotia, Dandy-Walker malformation	OMIM:616154
Usher Syndrome Type 3	Cataract, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Iri...	ORPHA:231183
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Leber Congenital Amaurosis	Keratoconus, Encephalocele, Cataract, Hemiplegia/hemiparesis, Abnormal optic disc morphology, Hea...	ORPHA:65
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Dystonia	ORPHA:306669
Cataract 47	Microcornea, Cataract	OMIM:612018
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Parkinsonism with favorable resp...	OMIM:616710
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased...	ORPHA:206594
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Sp...	OMIM:213200
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Myoclonus, Spastic paraparesis, Ventric...	ORPHA:391417
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Paraparesis, Optic atrophy, Abnormal nerve conduction velocity, Hearing impairment	ORPHA:99014
Stickler Syndrome Type 2	Sensorineural hearing impairment, Cataract, Corneal opacity	ORPHA:90654
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous...	ORPHA:329284
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Decreased CSF ...	OMIM:261640
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Abnormal aut...	OMIM:618049
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Low-set ears, Truncal ataxia, Posterior embryotoxon, Dan...	OMIM:220220
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Central Neurocytoma	Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, Tinnitus	ORPHA:73256
Krabbe Disease	Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, EEG abnormality, Hypertonia, D...	OMIM:245200
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Cataract, Progressive spasticity	ORPHA:2528
Pellagra-Like Syndrome	Cataract, Ataxia	OMIM:260650
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia...	OMIM:616881
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Epilepsy, Progressive Myoclonic, 6	Tremor, EEG with spike-wave complexes, Ataxia, Myoclonus	OMIM:614018
Peroxisome Biogenesis Disorder 8B	Lower limb spasticity, Cataract, Ataxia, Clonus, Rigidity, Babinski sign, Optic atrophy, Limb tre...	OMIM:614877
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Band Heterotopia	Spasticity, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly	OMIM:600348
Infantile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordi...	ORPHA:79263
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Aicardi-Goutieres Syndrome 6	Tremor, CSF pleocytosis, Rigidity, Increased CSF interferon alpha, Dystonia	OMIM:615010
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Aicardi-Goutieres Syndrome 4	Hydrocephalus, CSF lymphocytic pleiocytosis, Low-set ears, Dystonia, Spasticity, Ventriculomegaly	OMIM:610333
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Posterior subcapsular cataract, Ataxia	OMIM:300619
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing imp...	OMIM:125250
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Abnormal pinna morphology, Tremor, Optic atrophy, Spasticity	OMIM:300983
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Hypoplasia of the antihelix, Abnormal antihelix morphology, Cataract, Hearing impairment	ORPHA:2489
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Hydrocephalus, Optic atrophy, EEG abnormality, Ventriculomegaly	ORPHA:272
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
4H Leukodystrophy	Cataract, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, ...	ORPHA:289494
Flynn-Aird Syndrome	Increased CSF protein concentration, Progressive sensorineural hearing impairment, Cataract, Ataxia	OMIM:136300
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Large fleshy ears, Astigmatism, Hypertonia, Ventriculomegaly	OMIM:619556
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Hearing impairment	OMIM:120433
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Posterior embryotoxon...	ORPHA:1473
Autosomal Recessive Spastic Paraplegia Type 46	Lower limb spasticity, Cataract, Ataxia, Babinski sign, Abnormal pyramidal sign, Spastic dysarthr...	ORPHA:320391
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spasticity	OMIM:617810
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Decreased CSF ...	OMIM:619911
X-Linked Immunoneurologic Disorder	Hypertonia, Hemiplegia/hemiparesis, Cataract	ORPHA:2571
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Increased CSF phenylalanine concentration, Hyperkinetic moveme...	OMIM:233910
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Cataract	OMIM:601794
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdiadochokinesis, Tru...	OMIM:610185
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia	OMIM:617106
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus	OMIM:615599
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Spinocerebellar Ataxia, Autosomal Recessive 13	Dilated fourth ventricle, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdia...	OMIM:614831
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus	ORPHA:397951
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Cataract, Babinski sign, Pseudobulbar paralysis, Dystonia	ORPHA:101006
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Spasticity, Cataract	OMIM:610156
Coenzyme Q10 Deficiency, Primary, 4	Ataxia, Tremor, Abnormal pyramidal sign, Increased CSF lactate, Myoclonus	OMIM:612016
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Corpus Callosum, Partial Agenesis Of, X-Linked	Spasticity, Aganglionic megacolon, Hydrocephalus, Ventriculomegaly	OMIM:304100
L1 Syndrome	Aganglionic megacolon, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Spasticity	ORPHA:275543
Joubert Syndrome 9	Encephalocele, Cataract, Astigmatism, Oculomotor apraxia, Ventriculomegaly	OMIM:612285
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Frequent falls, Astigmatism, Abnormal auditory evoked potentials	OMIM:617523
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Tremor, Abnormal peripheral action potential amplitude, Limb fasciculations, Abnormality of the s...	ORPHA:90117
3-Methylglutaconic Aciduria Type 4	Spasticity, Cataract, Hearing impairment, Iris hypopigmentation	ORPHA:67048
Crigler-Najjar Syndrome Type 1	Tremor, Hearing impairment	ORPHA:79234
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Macrotia, Spastic tetraplegia	OMIM:300886
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Pontocerebellar Hypoplasia, Type 16	Cataract, Optic atrophy, Spastic tetraplegia, Abnormality of extrapyramidal motor function, Low-s...	OMIM:619527
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Decreased motor nerve conduction velocity	OMIM:607734
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculom...	ORPHA:1170
Vitamin K Antagonist Embryofetopathy	Cataract, Myelomeningocele, Hydrocephalus, Optic atrophy, Microtia, Hearing impairment	ORPHA:1914
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	High-frequency sensorineural hearing impairment, Tremor, Sensorineural hearing impairment, Eyelid...	ORPHA:2590
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ...	ORPHA:282166
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Spastic Paraplegia 9B, Autosomal Recessive	Cataract, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity	OMIM:616586
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Tremor, Abnormal cranial nerve morphology, Progressive h...	ORPHA:97229
Usher Syndrome Type 1	Cataract, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Iris hypopigment...	ORPHA:231169
Dystonia-Deafness Syndrome 1	Cataract, Generalized dystonia, Oculogyric crisis, Sensorineural hearing impairment, Leg dystonia...	OMIM:607371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Facial palsy, Developmental cataract	OMIM:613155
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Cataract, Clonus, Optic nerve hypoplasia, Hydr...	ORPHA:370959
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia	OMIM:617916
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i...	OMIM:619260
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Poor gross motor coordination, Multifocal epilep...	ORPHA:228360
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Alexander Disease Type I	Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal tremor	ORPHA:363717
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity	ORPHA:2182
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edema, Astigmatism, Re...	ORPHA:137596
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly	OMIM:613153
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, O...	ORPHA:1528
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Cataract, Optic nerve hypoplasia	OMIM:615181
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Babinski...	ORPHA:206448
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Spasticity, Cataract, Ventriculomegaly	OMIM:613730
Lissencephaly 8	Appendicular spasticity, Occipital encephalocele, Cataract, Optic atrophy, Ventriculomegaly	OMIM:617255
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Ataxia, Abnormal cerebrospinal fluid morphology, Sensorineural hearing ...	ORPHA:314404
Congenital Sialidosis Type 2	Cataract, Ataxia, Corneal opacity, Hydrocephalus, Optic atrophy, Dysmetria, Developmental catarac...	ORPHA:93400
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Spasticity, Spastic paraplegia, Hydrocephalus	OMIM:307000
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Facial palsy, Tremor, Tongue fasciculations, Myoclonus, Frequent falls	OMIM:159950
Diencephalic Syndrome	Hydrocephalus, Macrotia, Optic atrophy	ORPHA:1672
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Caribbean Parkinsonism	Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ...	ORPHA:97355
Sialidosis Type 1	Cataract, Corneal opacity, Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hea...	ORPHA:812
Nasu-Hakola Disease	Chorea, Hydrocephalus, Oculomotor apraxia, Spasticity, Ventriculomegaly	ORPHA:2770
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Cystathioninuria	Tremor, External ear malformation	ORPHA:212
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Sensorineural hea...	OMIM:302800
Oculopharyngodistal Myopathy 3	Ataxia, Tremor, Sensorineural hearing impairment, Conductive hearing impairment, Increased CSF pr...	OMIM:619473
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Babinski sign, Slurred speech, Optic atrophy, Clumsiness, Poor fine motor...	ORPHA:137898
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Rigidity, Dysmetria, Gait ataxia	OMIM:618090
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Sialidosis Type 2	Tremor, Corneal opacity, Ataxia, Hearing impairment	ORPHA:87876
Adams-Oliver Syndrome 2	Hydrocephalus, Optic atrophy, Protruding ear, Developmental cataract, Lateral ventricle dilatatio...	OMIM:614219
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ataxia, Hearing impairment, Hydrocephalus, Ocular albinism, Hypertonia, Iris hypopigmen...	ORPHA:2720
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu...	OMIM:607483
Atypical Rett Syndrome	Dystonia, Involuntary movements, Tremor, Limb myoclonus, Gait ataxia, Pill-rolling tremor, EEG ab...	ORPHA:3095
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tremor, D...	OMIM:218000
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Ventriculomegaly, Facial-lingual fasciculations, Hydrocephalus, Opt...	OMIM:617281
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Charcot-Marie-Tooth Disease And Deafness	Tremor, Decreased motor nerve conduction velocity, Sensorineural hearing impairment	OMIM:118300
Mohr-Tranebjaerg Syndrome	Tremor, Postlingual sensorineural hearing impairment, Dystonia, Progressive sensorineural hearing...	OMIM:304700
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Hydrocephalus, Cataract	ORPHA:2635
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Lopes-Maciel-Rodan Syndrome	Tremor, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia, Spasticity	OMIM:617435
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet...	ORPHA:101
Autosomal Recessive Spastic Paraplegia Type 5A	Lower limb spasticity, Cataract, Sensorineural hearing impairment, Babinski sign, Spastic paraple...	ORPHA:100986
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Babinski sign, Torsion d...	OMIM:128100
Amelocerebrohypohidrotic Syndrome	EEG abnormality, Spasticity, Hydrocephalus	ORPHA:1946
Multiple Sulfatase Deficiency	Cataract, Corneal opacity, Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Abnorm...	ORPHA:585
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Cadds	Sensorineural hearing impairment, Cataract, Ventriculomegaly, Dystonia	ORPHA:369942
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus	OMIM:619780
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Pontocerebellar Hypoplasia, Type 7	Ataxia, Hydrocephalus, Spastic paraplegia, Optic atrophy, Opisthotonus, Choreoathetosis, Hyperton...	OMIM:614969
Peroxisome Biogenesis Disorder 11B	Cataract, Hearing impairment	OMIM:614885
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia...	ORPHA:1215
Classic Phenylketonuria	Cataract, Tremor, Paraplegia, Hypertonia, Hemiplegia	ORPHA:79254
6P22 Microdeletion Syndrome	Hydrocephalus, Overfolded helix, Low-set ears, Hearing impairment	ORPHA:251046
Behr Syndrome	Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Progressive spasticity, Truncal ataxia, ...	OMIM:210000
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Multiple Sulfatase Deficiency	Corneal opacity, Ataxia, Hydrocephalus, Spasticity, Increased CSF protein concentration, Ventricu...	OMIM:272200
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiol...	OMIM:300894
Edinburgh Malformation Syndrome	Brushfield spots, Hydrocephalus, Hypertonia, Low-set ears	ORPHA:1895
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
Developmental And Epileptic Encephalopathy 46	Tremor, Hypsarrhythmia, Limb hypertonia	OMIM:617162
Joubert Syndrome With Renal Defect	Encephalocele, Low-set, posteriorly rotated ears, Ataxia, Aganglionic megacolon, Tremor, Hydrocep...	ORPHA:220497
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait	OMIM:616795
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Tremor, Babinski sign, Low-set ears, Spastic paraplegia	ORPHA:477673
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Conjunctivitis, Conductive hearing impairment, Narrow internal audi...	ORPHA:207
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ...	ORPHA:3240
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, EEG with spike-wave c...	ORPHA:36387
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy	OMIM:207950
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Spasticity	OMIM:607694
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Oculomotor apraxia, Spasticity	ORPHA:529665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Optic atrophy, Developmental cataract, Lateral ventricle dilatat...	OMIM:613154
Developmental And Epileptic Encephalopathy 4	Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Hypsarrhythmia, Chor...	OMIM:612164
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Hypertonia, Myoclonus, Low-set ears, Overfolded h...	OMIM:619092
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Optic atrophy, Hyps...	ORPHA:442835
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Cerebral palsy, Cataract, Ataxia, Posteriorly rotated ears, Hydrocephalus, Optic atrophy, Colpoce...	OMIM:619833
Joubert Syndrome	Encephalocele, Ataxia, Aganglionic megacolon, Tremor, Hydrocephalus, Low-set ears, Oculomotor apr...	ORPHA:475
Stickler Syndrome, Type V	Sensorineural hearing impairment, Cataract	OMIM:614284
Chronic Bilirubin Encephalopathy	Cerebral palsy, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing ...	ORPHA:529808
Acute Bilirubin Encephalopathy	Cerebral palsy, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing ...	ORPHA:529799
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i...	OMIM:601455
Pettigrew Syndrome	Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Sensorineural hearing impairment, Optic atr...	OMIM:304340
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp...	OMIM:618060
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hear...	OMIM:601499
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ...	OMIM:617013
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Ataxia, Intention tremor, Posterior polar cataract, Spasticity, Hearing impairment	OMIM:117300
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Spastic Paraplegia 9A, Autosomal Dominant	Lower limb spasticity, Resting tremor, Cataract, Hoffmann sign, Babinski sign, Spastic paraplegia...	OMIM:601162
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Cataract, Hearing impairment, Tremor, Fasciculations, Limb hypertonia	OMIM:620327
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Protruding ear, Low-set ears, Iris ...	ORPHA:85284
Glutaric Acidemia I	Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat...	OMIM:231670
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Hec Syndrome	Communicating hydrocephalus, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Oculomotor apraxia	OMIM:614867
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Corneal opacity, External ear malformation, Hemiplegia/hemiparesis, Hydrocephal...	ORPHA:1647
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Parkinsonism, Focal EEG discharges with secondary generali...	ORPHA:3077
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly, Hearing impairment	ORPHA:858
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Hydrocephalus, Holoprosencephaly, Iris coloboma, Hearing impairment	ORPHA:77298
Infantile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction...	ORPHA:206436
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract, Spastic paraparesis	OMIM:619338
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, V...	OMIM:617710
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Parkinsonism with favorable respon...	ORPHA:240071
Peroxisome Biogenesis Disorder 10B	Cataract, Posteriorly rotated ears, Low-set ears, Spastic paraplegia	OMIM:617370
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Protruding ear	OMIM:618302
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Sensorineural hearing impairment, Choreoathetosis, Keratoconjunctivi...	OMIM:278730
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Hearing impairment, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Pa...	OMIM:105210
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Tremor, Head titubation, Spasti...	OMIM:312080
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Dystonia, Spasticity, V...	ORPHA:765
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Cataract, Optic nerve hypoplasia, Hearing impairment	OMIM:620157
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Ataxia, Aganglionic megacolon, Tremor, Hydrocep...	ORPHA:220493
Norrie Disease	Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi...	OMIM:310600
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea,...	ORPHA:25
Jaberi-Elahi Syndrome	Appendicular spasticity, Cataract, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Choreoathetosis...	OMIM:617988
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Abnormality of extrap...	OMIM:615673
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p...	OMIM:168600
Aniridia 3	Aniridia, Cataract	OMIM:617142
Cerebrotendinous Xanthomatosis	Resting tremor, Optic disc pallor, Juvenile cataract, Ataxia, Parkinsonism, Dystonia, Abnormal au...	ORPHA:909
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Optic atrophy, Increased CSF lactate, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Walker-Warburg Syndrome	Ventriculomegaly, Cataract, Corneal opacity, Posteriorly rotated ears, Hydrocephalus, Optic atrop...	ORPHA:899
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Hypertonia, Myoclonus, Inte...	OMIM:616505
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Communicating hydrocephalus	ORPHA:1064
Spinocerebellar Ataxia Type 27	Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia	ORPHA:98764
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Low-set ears	ORPHA:1516
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Xeroderma Pigmentosum, Complementation Group F	Tremor, Astigmatism, Ataxia, Hearing impairment	OMIM:278760
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bra...	OMIM:146500
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cataract, Ataxia, Generalized dystonia, Chorea, Spastic tetraplegia, Gait ataxia, Hypsarrhythmia,...	OMIM:618321
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cataract, Ataxia, Babinski sign, Optic atrophy, Gait ataxia, Hyperkinetic movements, Bilateral se...	OMIM:620089
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Abnormal autonomic nervous syste...	OMIM:616840
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Ataxia, Dysmetria, Titubation	OMIM:619405
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia	OMIM:208920
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Macrotia, Clumsiness	OMIM:300558
Chromosome 6Pter-P24 Deletion Syndrome	Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Axenfeld anomaly, Opac...	OMIM:612582
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Large earlobe, Hydrocephalus, Ventriculomegaly	OMIM:602501
3-Methylglutaconic Aciduria, Type Viib	Cataract, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Increased CSF lactate, Hyperkinetic move...	OMIM:616271
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impai...	OMIM:615219
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesi...	OMIM:614381
Coloboma, Ocular, Autosomal Recessive	Optic disc coloboma, Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ataxia, Sensorineural hearing impairment, Ocular albinism, Abnormal py...	ORPHA:2719
Gorlin Syndrome	Hydrocephalus, Cataract, Iris coloboma	ORPHA:377
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Cataract, Hypertonia, Hypsarrhythmia	OMIM:608093
Triploidy	Low-set, posteriorly rotated ears, Cataract, Hydrocephalus, Meningocele, Holoprosencephaly, Iris ...	ORPHA:3376
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Posteriorly rotated ears, Hydrocephalus, Low-set ears, Dandy-Walker malformation, Ventriculomegaly	ORPHA:163961
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Spastic tetraparesis, Hydrocephalus, Hypertonia, Microtia, Low-set ears	ORPHA:171839
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Hydrocephalus, Optic atrophy, Microcornea, Microtia, Iris coloboma	ORPHA:3301
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Hydrocephalus, Babinski sign, Polycoria, Developmental cataract, Micro...	OMIM:175780
Oxoglutaric Aciduria	Hydrocephalus, Hypertonia, Ataxia	ORPHA:31
Tyrosinemia Type 2	Tremor, Corneal opacity, Ataxia	ORPHA:28378
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Conductive hearing impairment, Ataxia	ORPHA:1861
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Decreased distal sensory nerve action potential, Tremor, Developmental glaucoma, Sensor...	ORPHA:99956
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Arachnoiditis	Hydrocephalus, Tinnitus, Hearing impairment	ORPHA:137817
Coach Syndrome 2	Oculomotor apraxia, Hydrocephalus	OMIM:619111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Cataract, Sensorineural hearing impairment	OMIM:615249
Cockayne Syndrome Type 1	Lower limb spasticity, Absent brainstem auditory responses, Cataract, Ataxia, Tremor, Optic atrop...	ORPHA:90321
Proteus-Like Syndrome	Communicating hydrocephalus, Cataract, Abnormal pupil morphology, Hydrocephalus, Limbal dermoid, ...	ORPHA:2969
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Developmental c...	ORPHA:447753
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Decreased motor nerve conduction velocity, Tremor, Chorea, Abnormal ...	OMIM:606002
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hearing impairment	ORPHA:93274
Hypoparathyroidism, Familial Isolated, 1	Chvostek sign, Cataract	OMIM:146200
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Hydrocephalus	ORPHA:2181
Optic Pathway Glioma	Papilledema, Hydrocephalus, Optic atrophy	ORPHA:2086
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Developmental Malformations-Deafness-Dystonia Syndrome	Sensorineural hearing impairment, Cataract, Generalized dystonia	ORPHA:79107
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Hearing impai...	OMIM:229200
Griscelli Syndrome	Encephalocele, Ataxia, Hydrocephalus, Spasticity, Iris hypopigmentation	ORPHA:381
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc...	ORPHA:1806
Dural Sinus Malformation	Papilledema, Ataxia, Parkinsonism, Pulsatile tinnitus, Myelopathy, Hydrocephalus, Poor coordinati...	ORPHA:97339
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Hydrocephalus, Microcornea, Low-set ears, Peters ...	OMIM:243605
Wolfram Syndrome 1	Cataract, Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy	OMIM:222300
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Cataract, Ataxia, Spastic paraplegia, Hypertonia, Hypoglycorrhachia,...	ORPHA:168577
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Hydrocephalus, Macrotia, Hearing impairment	ORPHA:2701
Medulloblastoma	Ataxia, Hydrocephalus, Dysmetria, Abnormal cranial nerve morphology, Progressive cerebellar ataxi...	ORPHA:616
Emanuel Syndrome	Torticollis, Ventriculomegaly, Hydrocephalus, Astigmatism, Low-set ears, Macrotia, Dandy-Walker m...	OMIM:609029
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Bilateral sensorineural hearin...	ORPHA:397744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response, Cataract, Hydrocephalus, Optic atrophy, Holoprosence...	OMIM:253800
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Extrapyrami...	ORPHA:67036
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Ataxia, Babinski sign, Abnormal pyramidal sign, Ankle clonus, Pseudo...	OMIM:213700
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Alkuraya-Kucinskas Syndrome	Cataract, Posteriorly rotated ears, Hydrocephalus, Low-set ears, Oculomotor apraxia, Dandy-Walker...	OMIM:617822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Hydrocephalus, Cataract, Ventriculomegaly	OMIM:616538
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Morning Glory Disc Anomaly	Optic disc coloboma, Cataract	ORPHA:35737
Focal Facial Dermal Dysplasia Type Iv	Hemiparesis, Hydrocephalus	ORPHA:398189
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Lowry-Maclean Syndrome	Corneal opacity, Developmental glaucoma, Hydrocephalus, Hemiparesis, Low-set ears, Megalocornea	ORPHA:2409
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Cataract, Corneal opacity, Optic nerve hypoplasia, Men...	OMIM:236670
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Cataract, Parkinsonism, Facial palsy, Rigidity, Sensorineural hearing impairment,...	OMIM:157640
Williams-Beuren Region Duplication Syndrome	Speech apraxia, Hydrocephalus, Overfolded helix, Ventriculomegaly	OMIM:609757
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Ventriculomegaly, EEG with focal spike waves	ORPHA:370997
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Joubert Syndrome With Oculorenal Defect	Encephalocele, Low-set, posteriorly rotated ears, Ataxia, Aganglionic megacolon, Hydrocephalus, I...	ORPHA:2318
Xeroderma Pigmentosum, Complementation Group B	Cataract, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic at...	OMIM:610651
Alexander Disease	Ataxia, Clonus, Facial palsy, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyrami...	ORPHA:58
Cockayne Syndrome B	Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve c...	OMIM:133540
Tetanus	Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom...	ORPHA:3299
Cerebral Visual Impairment	Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Clumsine...	ORPHA:447788
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Ataxia, Tremor, Rigidity, Myelopathy, Increased CSF lactate, Cervical myelopathy, Te...	OMIM:617186
Trisomy 17P	Cataract, Hydrocephalus, Hypertonia, Low-set ears, Hearing impairment	ORPHA:261290
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Conductive hearing impairment, Hydrocephalus, Optic atrophy	ORPHA:93262
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Tremor, Optic atrophy, Dysmetria, Clumsin...	ORPHA:845
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Cataract, Ataxia, Dystonia, Tremor, Chorea, Athetosis, EEG abnormality, Hyperkine...	OMIM:615356
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap...	OMIM:618527
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Hydranencephaly, Pterygium, Dandy-Walker malformation	OMIM:225790
Adams-Oliver Syndrome	Encephalocele, Cataract, Hydrocephalus, Hemiparesis, EEG abnormality, Hypertonia	ORPHA:974
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Tremor, Astigmatism	OMIM:619680
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Thanatophoric Dysplasia	Low-set ears, Hydrocephalus, Ventriculomegaly, Hearing impairment	ORPHA:2655
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hemiparesis, Hydrocephalus	OMIM:617542
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Japanese Encephalitis	Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Facial...	ORPHA:79139
Crouzon Syndrome	Keratitis, Hydrocephalus, Optic atrophy, Conjunctivitis, Atresia of the external auditory canal, ...	OMIM:123500
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Optic...	OMIM:614298
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Isotretinoin Embryopathy-Like Syndrome	Anotia, Hydrocephalus, Microtia	OMIM:243440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cataract, Hydrocephalus, Buphthalmos, Persistent pupillary membrane, Peters anomal...	OMIM:613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Cataract, Optic nerve hypoplasia, Hydrocephalus, Microtia, Low-s...	OMIM:614643
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Ataxia, Tremor, Hydrocephalus, Optic disc coloboma, Low-set ears, Oculom...	ORPHA:1454
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Hogue-Janssen Syndrome 2	Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616362
Cockayne Syndrome A	Cataract, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreas...	OMIM:216400
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Hearing impairment, Anterior lenticonus	OMIM:203780
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Oculomotor apraxia, Hydrocephalus, Ventriculomegaly	OMIM:615630
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Cataract, Ataxia	ORPHA:79095
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:175700
Aase-Smith Syndrome I	Hydrocephalus, Abnormal pinna morphology, Dandy-Walker malformation	OMIM:147800
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Clonus, Optic nerve hypoplasia, Tremor, S...	OMIM:615574
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Low-set, posteriorly rotated ears, Hydrocephalus, Meningocele, Anencephaly, Spinal...	ORPHA:1908
Pelvis-Shoulder Dysplasia	Abnormal pinna morphology, Spina bifida, Hydrocephalus, Microcornea, Microtia, Hydranencephaly, I...	ORPHA:2839
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Ectopia lentis, Lens luxation	OMIM:224400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Ataxia, Rigidity, Hydrocephalus, Optic atrophy, Spastic tetraplegia, Spasticity...	OMIM:618476
Tenorio Syndrome	Cerebral palsy, Hydrocephalus, Clumsiness, Keratoconjunctivitis sicca, Ventriculomegaly	OMIM:616260
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Paraparesis, Hydrocephalus, Crania...	ORPHA:2356
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia	ORPHA:240094
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Mend Syndrome	Cataract, Abnormal auditory evoked potentials, Hydrocephalus, Low-set ears, Dandy-Walker malforma...	ORPHA:401973
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Abnormal location of ears, Ventriculomegaly	OMIM:218350
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Rabin-Pappas Syndrome	Cataract, Optic nerve hypoplasia, Hydrocephalus, Sensorineural hearing impairment, Conductive hea...	OMIM:620155
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Distal Triplication 15Q	Corneal dystrophy, Hydrocephalus, Cupped ear, Sensorineural hearing impairment, Microtia, Low-set...	ORPHA:314588
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Albers-Schönberg Osteopetrosis	Hydrocephalus, Optic atrophy, Facial palsy, Hearing impairment	ORPHA:53
Oculoauricular Syndrome	Cataract, Sclerocornea, Absent earlobe, Spina bifida occulta, Developmental cataract, Microcornea...	OMIM:612109
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Posteriorly rotated ears, Noncommunicating hydrocephalus, Clumsiness, Low-set ears, Macrotia	OMIM:619320
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Serotonin Syndrome	Clonus, Tremor, Rigidity, Hypertonia, Myoclonus, Abnormality of the autonomic nervous system, Myd...	ORPHA:43116
Joubert Syndrome 14	Encephalocele, Ataxia, Posteriorly rotated ears, Hydrocephalus, Meningocele, Optic atrophy, Low-s...	OMIM:614424
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Cataract, Iris coloboma, Corneal scarring	OMIM:212550
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Optic nerve hypoplasia, Sensorineural hearing impairment, Spastic te...	ORPHA:300570
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Ataxia, Aganglionic megacolon, Hydrocep...	ORPHA:59315
Sturge-Weber Syndrome	Conjunctival telangiectasia, Corneal dystrophy, Hydrocephalus, Optic atrophy, Heterochromia iridi...	ORPHA:3205
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Limbal dermoid, Dandy-Walker malformation	OMIM:613001
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Emanuel Syndrome	Hydrocephalus, Macrotia, Astigmatism, Low-set ears, Severe hearing impairment, Dandy-Walker malfo...	ORPHA:96170
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ...	ORPHA:48818
Peho Syndrome	External ear malformation, Hydrocephalus, Optic atrophy, Hypsarrhythmia, EEG abnormality, Macroti...	ORPHA:2836
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Cataract, Sensorineural hearing impairment, Optic atrophy, Bilateral sensorine...	OMIM:268315
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Clonus, Mydriasis, Facial palsy, Hydrocephalus, Optic atrophy, Spastic tetrapl...	OMIM:259720
Methylcobalamin Deficiency Type Cble	Lower limb hypertonia, Hydrocephalus, Ventriculomegaly, Hearing impairment	ORPHA:2169
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Posteriorly rotated ears, Hydrocephalus, Developmental cataract, Low-set ears, Pte...	ORPHA:1865
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Abnormal CSF ornithine concentrat...	ORPHA:2203
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:615530
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment,...	OMIM:239300
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ventriculomegaly, Ataxia, Hydrocephalus, Optic atrophy, Hemiparesis, Spast...	ORPHA:395
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Conductive hearing impairment, Abnormal cornea morphology	OMIM:244400
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
3-Methylglutaconic Aciduria, Type Viii	Cataract, Clonus, Tremor, Sensorineural hearing impairment, Increased CSF lactate, Hypertonia, Dy...	OMIM:617248
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Hypertonia, Dandy-Walker malformation, Sensorineural hearing impairment	OMIM:612938
Hurler Syndrome	Cerebral palsy, Corneal opacity, Hydrocephalus, Abnormal pyramidal sign, Spastic paraparesis, Abn...	ORPHA:93473
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Hydrocephalus, Spinal dysraphism, Microtia, Hearing impairment	ORPHA:1926
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Hydrocephalus, Facial paralysis, Cranial nerve compression	OMIM:259710
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Temple Syndrome	Hydrocephalus	ORPHA:254516
3C Syndrome	Ventriculomegaly, Hydrocephalus, Optic atrophy, Low-set ears, Iris coloboma, Dandy-Walker malform...	ORPHA:7
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Hydrocephalus, Colpocephaly, Peters anomaly, Iris coloboma, Hearing impai...	OMIM:309801
Plasminogen Deficiency, Type I	Hydrocephalus, Conjunctivitis, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Upp...	ORPHA:268810
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
B4Galt1-Cdg	Low-set ears, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Temple Syndrome	Hydrocephalus, Posteriorly rotated ears	OMIM:616222
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract, Temporal optic disc pallor	OMIM:619649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerv...	OMIM:615287
Alternating Hemiplegia Of Childhood	Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Paroxysmal dyskin...	ORPHA:2131
Arthrogryposis, Distal, Type 2A	Spina bifida occulta, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Tetrasomy 15Q26	Low-set ears, Hydrocephalus, Cupped ear, Dandy-Walker malformation	OMIM:614846
Apert Syndrome	Corneal erosion, Hydrocephalus, Optic atrophy, Sensorineural hearing impairment, Abnormal semicir...	ORPHA:87
Mucopolysaccharidosis Type 3	Vocal cord paresis, Mixed hearing impairment, Cataract, Corneal opacity, Ataxia, Thickened helice...	ORPHA:581
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Low-set ears	ORPHA:2180
Full Nf2-Related Schwannomatosis	Facial palsy, Bilateral vestibular schwannoma, Myelopathy, Posterior subcapsular cataract, Hydroc...	ORPHA:637
Muenke Syndrome	Hydrocephalus, Sensorineural hearing impairment	ORPHA:53271
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Facial palsy, Dandy-Walker malformation	OMIM:310400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Hydrocephalus, Optic atrophy, Spasticity, Buphthalmos, EEG abnormality, Myoclonus, Opac...	OMIM:253280
Osteopetrosis, Autosomal Recessive 1	Facial palsy, Hydrocephalus, Optic atrophy, Facial paralysis, Hearing impairment	OMIM:259700
Ritscher-Schinzel Syndrome 1	Low-set ears, Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Decerebrate rigidity, Progre...	ORPHA:512
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Low-set ears, Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Aymé-Gripp Syndrome	Cataract, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Developmenta...	ORPHA:1272
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Cataract, Posteriorly rotated ears, Hydrocephalus, Tetraplegia, Low-set ears, D...	OMIM:257300
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Mucopolysaccharidosis Type 1	Corneal opacity, Hemiplegia/hemiparesis, Hydrocephalus, Sensorineural hearing impairment, Optic a...	ORPHA:579
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Spina bifida, Myelomeningocele, Hydrocephalus, Hypoplastic hel...	ORPHA:2437
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Low-set ears	OMIM:300863
Vacterl With Hydrocephalus	Microtia, third degree, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microcornea, Anotia	ORPHA:3412
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Optic atrophy, Ventriculomegaly	ORPHA:60040
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Sensorineural hearing impairment, Hydrocephalus, Hypsarrhythmia, Keratoconjunctivitis s...	OMIM:616007
Meckel Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Cataract, Sclerocornea, Hydrocephalus, Anenceph...	ORPHA:564
Gracile Bone Dysplasia	Aniridia, Hydrocephalus	OMIM:602361
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Protruding ear, Hypertonia, Juvenile cataract, Iris coloboma, Intention tremor, Ataxia, H...	OMIM:619475
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Optic atrophy, Ventriculomegaly	OMIM:614576
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Hydrolethalus	Low-set, posteriorly rotated ears, Hydrocephalus, Anencephaly, Low-set ears	ORPHA:2189
Desmosterolosis	Low-set, posteriorly rotated ears, Rigidity, Hydrocephalus, Abnormal earlobe morphology, Large ea...	ORPHA:35107
Axial Mesodermal Dysplasia Spectrum	Limbal dermoid, Hydrocephalus, Microtia	ORPHA:1834
Mend Syndrome	Cataract, Posteriorly rotated ears, Hydrocephalus, Hypertonia, Low-set ears, Overfolded helix, An...	OMIM:300960
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Keratoconjunctivitis sicca, Hydrocephalus, Ectopia lentis	OMIM:616914
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Low-set ears, Mild hearing impairment, Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Otopalatodigital Syndrome Type 2	Encephalocele, Cataract, Abnormal pinna morphology, Developmental glaucoma, Myelomeningocele, Hyd...	ORPHA:90652
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Cataract, Ectopia lentis	ORPHA:1571
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus, Optic disc coloboma, Low-...	OMIM:608091
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly, Hearing impairment	ORPHA:1860
Gaucher Disease, Type Iiic	Hydrocephalus, Opacification of the corneal stroma	OMIM:231005
Jacobsen Syndrome	Hydrocephalus, Optic atrophy, Microcornea, Holoprosencephaly, Low-set ears, Spasticity, Iris colo...	OMIM:147791
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Posteriorly rotated ears, Optic nerve hypoplasia, Hydrocephalus,...	OMIM:605627
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Hydrocephalus, Optic atrophy, Spasticity, Hearing impairment	ORPHA:220295
Hurler Syndrome	Hydrocephalus, Corneal opacity, Opacification of the corneal stroma, Hearing impairment	OMIM:607014
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Sensorineural hearing impairment, Lateral ventricle dilatation, Low-set ears, Ante...	OMIM:619575
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Trisomy 10P	Poor motor coordination, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with ...	ORPHA:171929
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Cataract, Iris coloboma, Sensorineural hearing impairment	ORPHA:250989
Cousin Syndrome	Posteriorly rotated ears, Hydrocephalus, Microcornea, Low-set ears, Hydranencephaly, Microtia, fi...	OMIM:260660
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Microtia, Anotia, Atresia of the external auditory canal, Iris coloboma, Hearing i...	ORPHA:268249
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Posteriorly rotated ears, Hydrocephalus, Optic atrophy, Low-set ears, Spasticity	OMIM:618590
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Low-set ears	ORPHA:163966
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia	ORPHA:79330
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function, Low-set ears, Macrotia	OMIM:277400
Holoprosencephaly	Encephalocele, External ear malformation, Chorea, Hydrocephalus, Optic atrophy, Spinal dysraphism...	ORPHA:2162
Histiocytoid Cardiomyopathy	Corneal opacity, Hydrocephalus, Optic atrophy, Hemiplegia, Megalocornea, Congenital aphakia	ORPHA:137675
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Sensorineural hearing impairment, Corneal opacity, Hearing impairment	OMIM:253220
Trisomy 1Q	Low-set ears, Hydrocephalus, Ventriculomegaly	ORPHA:261344
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus, Posteriorly rotated ears, Low-set ears, Hearing impairment	OMIM:619951
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, O...	OMIM:234200
Primary Ciliary Dyskinesia	Conductive hearing impairment, Hydrocephalus, Ventriculomegaly, Hearing impairment	ORPHA:244
Monosomy 18Q	Hydrocephalus, Poor coordination, Sensorineural hearing impairment, Choreoathetosis, Bilateral co...	ORPHA:1600
Whipple Disease	Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Ataxia	ORPHA:3452
Fg Syndrome Type 1	Optic nerve hypoplasia, Hydrocephalus, Cupped ear, Sensorineural hearing impairment, Microtia, Ve...	ORPHA:93932
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Gaucher Disease	Corneal opacity, Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Abnormality of extrapyram...	ORPHA:355
Monosomy 9Q22.3	Cataract, Hydrocephalus, Low-set ears, Thickened ears, Ventriculomegaly	ORPHA:77301
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears	ORPHA:1237
Chromosome 6Q24-Q25 Deletion Syndrome	Low-set ears, Hydrocephalus, Cupped ear, Lateral ventricle dilatation	OMIM:612863
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly, Hearing impairment	ORPHA:500055
Fanconi Anemia, Complementation Group B	Low-set ears, Hydrocephalus, Overfolded helix, Ventriculomegaly	OMIM:300514
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opaci...	ORPHA:309282
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Hydrocephalus, Abnormal earlobe morphology, Dysmetria, Large e...	ORPHA:96121
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Desmosterolosis	Posteriorly rotated ears, Hydrocephalus, Cupped ear, Low-set ears, Spasticity, Ventriculomegaly	OMIM:602398
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Protruding ear	OMIM:612940
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:238769
Cardiofaciocutaneous Syndrome 1	Posteriorly rotated ears, Hydrocephalus, Optic nerve dysplasia, Anterior creases of earlobe, Larg...	OMIM:115150
Achondroplasia	Hydrocephalus, Hearing impairment	ORPHA:15
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Atresia of the external auditory canal, Low-set ears	ORPHA:93259
Lateral Meningocele Syndrome	Posteriorly rotated ears, Abnormality of the middle ear ossicles, Hydrocephalus, Meningocele, Low...	OMIM:130720
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Mixed hearing impairment, Posteriorly rotated ears, Hydrocephalus, Microcornea, Peri...	ORPHA:536467
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Lhermitte-Duclos Disease	Hydrocephalus, Ataxia	ORPHA:65285
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Corneal opacity, Paralysis, Hydrocephalus, Spastic paraplegia, Sensorineural hearing...	ORPHA:2072
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Optic atrophy, Blue irides, Hearing impairment	OMIM:101800
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the earlobes, Optic atrophy, Thickened helices, Macrotia	ORPHA:1555
Kabuki Syndrome	Hydrocephalus, Sensorineural hearing impairment, Protruding ear, Microcornea, EEG abnormality, Co...	ORPHA:2322
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Low-set ears, Hydrocephalus, Ventriculomegaly	ORPHA:1812
H Syndrome	Corneal arcus, Hydrocephalus, Hearing impairment	ORPHA:168569
Tetrasomy 5P	Hydrocephalus, Posteriorly rotated ears, Low-set ears	ORPHA:3309
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Chromosome 17P13.1 Deletion Syndrome	Ankle clonus, Hydrocephalus, Posteriorly rotated ears, Spina bifida	OMIM:613776
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Pseudotrisomy 13 Syndrome	Encephalocele, Posteriorly rotated ears, Hydrocephalus, Holoprosencephaly, Low-set ears	OMIM:264480
47,Xyy Syndrome	Hydrocephalus, Low-set ears	ORPHA:8
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Hydrocephalus, Microtia, Low-set ears, Ventriculomegaly	OMIM:613603
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Glycogen Storage Disease Of Heart, Lethal Congenital	EEG with burst suppression, Hydrocephalus, Cataract	OMIM:261740
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Cataract, Hydrocephalus, Protruding ear, Abnormal antihelix mo...	ORPHA:235
Limb Body Wall Complex	Encephalocele, Corneal opacity, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Lens ...	ORPHA:2369
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Mucopolysaccharidosis, Type Ii	Papilledema, Hydrocephalus, Hearing impairment	OMIM:309900
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Developmental glaucoma, Hydrocephalus, Microtia, Low-set ears, Prominent antitragus	OMIM:245600
Basal Cell Nevus Syndrome 1	Hydrocephalus, Cataract, Iris coloboma, Spina bifida	OMIM:109400
Genitopalatocardiac Syndrome	Hydrocephalus, Low-set ears	ORPHA:2075
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Hearing impairment	OMIM:616482
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Neurooculorenal Syndrome	Iris atrophy, Mixed hearing impairment, Aqueductal stenosis, Hydrocephalus, Sensorineural hearing...	OMIM:620305
Congenital Myopathy 22A, Classic	Frequent falls, Normal pressure hydrocephalus	OMIM:620351
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Spina bifida, Hydrocephalus, Optic atrophy, Developmental cataract, Protruding ea...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Spina bifida, Hydrocephalus, Optic atrophy, Developmental cataract, Protruding ea...	ORPHA:363958
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus, Corneal opacity, Hearing impairment	OMIM:253200
Trisomy 8P	Posteriorly rotated ears, Hydrocephalus, Aplasia/Hypoplasia of the tragus, Astigmatism, Conductiv...	ORPHA:264450
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Beare-Stevenson Cutis Gyrata Syndrome	Posteriorly rotated ears, Hydrocephalus, Optic atrophy, Atresia of the external auditory canal, V...	OMIM:123790
Isotretinoin-Like Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Bilateral sensorineural hea...	ORPHA:2306
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Hydrocephalus, Optic atrophy, EEG abnormality, Thickened helic...	ORPHA:1340
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sensorineural hearing impairment, Ataxia	OMIM:616084
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
15Q Overgrowth Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Hydrocepha...	ORPHA:314585
Mirage Syndrome	Hydrocephalus, Paraplegia	OMIM:617053
Neurofibromatosis Type 1	Cataract, Corneal opacity, Ataxia, Hydrocephalus, Lisch nodules, Heterochromia iridis, Hearing im...	ORPHA:636
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypsarrhythmia, Lisch nodules	OMIM:162200
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Endocrine-Cerebroosteodysplasia	Low-set ears, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Opitz-Kaveggia Syndrome	Sensorineural hearing impairment, Hydrocephalus, Spasticity, Microtia, first degree, Simple ear	OMIM:305450
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Low-set ears, Occipital meningocele, Ventriculomegaly	OMIM:616546
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Icf Syndrome	Communicating hydrocephalus, Low-set ears	ORPHA:2268
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Abnormal pinna morphology	OMIM:207410
22Q11.2 Deletion Syndrome	Cataract, Aganglionic megacolon, Spina bifida, Hydrocephalus, Meningocele, Optic atrophy, Overfol...	ORPHA:567
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract, Calcification of the auricular cartilage, Hydrocephalus, Conductive hearing impairment,...	ORPHA:3042
Short-Rib Thoracic Dysplasia 12	Posteriorly rotated ears, Abnormal pinna morphology, Hydrocephalus, Anencephaly, Holoprosencephal...	OMIM:269860
Shprintzen-Goldberg Craniosynostosis Syndrome	Abnormal pinna morphology, Posteriorly rotated ears, Hydrocephalus, Low-set ears, Conductive hear...	OMIM:182212
Marshall-Smith Syndrome	Ventriculomegaly, Optic nerve hypoplasia, Hydrocephalus, Hypertonia, Bilateral conductive hearing...	OMIM:602535
Osteootohepatoenteric Syndrome	Hydrocephalus, Hearing impairment	OMIM:619377
Tetraamelia Syndrome 1	Hydrocephalus, Cataract, Low-set ears	OMIM:273395
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Fanconi Anemia	Cataract, Aganglionic megacolon, Spina bifida, External ear malformation, Hydrocephalus, Aplasia/...	ORPHA:84
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Ventriculomegaly, Cataract, Corneal opacity, Microtia, second ...	ORPHA:709
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Posteriorly rotated ears, Aqueductal stenosis, Hydrocephalus, Sensorineural hearing impairment, O...	OMIM:619512
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Autosomal Recessive Malignant Osteopetrosis	Tremor, Hydrocephalus, Optic nerve compression, Hearing impairment	ORPHA:667
Achondroplasia	Conductive hearing impairment, Hydrocephalus	OMIM:100800
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation	OMIM:612301
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Limb d...	OMIM:601104
Raine Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinna morphology, Hydrocephalus, Pro...	OMIM:259775
Hajdu-Cheney Syndrome	Cataract, Hydrocephalus, Low-set ears, Iris coloboma, Hearing impairment	ORPHA:955
Mohr Syndrome	Conductive hearing impairment, Hydrocephalus	OMIM:252100
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Osteopathia Striata With Cranial Sclerosis	Posteriorly rotated ears, Facial palsy, Hydrocephalus, Microtia, Low-set ears, Conductive hearing...	OMIM:300373
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Low-set ears	OMIM:104350
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Hydrocephalus, Optic atrophy, Poor fine motor coordination, Low-set ears	ORPHA:79282
Microphthalmia With Linear Skin Defects Syndrome	Corneal opacity, Sclerocornea, Hydrocephalus, Abnormal earlobe morphology, Cleft earlobe, Posteri...	ORPHA:2556
Hajdu-Cheney Syndrome	Hydrocephalus, Large earlobe, Low-set ears, Conductive hearing impairment, Iris coloboma	OMIM:102500
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Alobar Holoprosencephaly	Abnormal central motor function, Hydrocephalus, Oromotor apraxia, Sensorineural hearing impairmen...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal central motor function, Hydrocephalus, Oromotor apraxia, Sensorineural hearing impairmen...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal central motor function, Hydrocephalus, Oromotor apraxia, Sensorineural hearing impairmen...	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal central motor function, Hydrocephalus, Oromotor apraxia, Sensorineural hearing impairmen...	ORPHA:220386
Smith-Lemli-Opitz Syndrome	Cataract, Aganglionic megacolon, Posteriorly rotated ears, Hydrocephalus, Colpocephaly, Hypertoni...	OMIM:270400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Optic atrophy, Conjunctivitis	ORPHA:505248
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Hearing impairment	OMIM:101200
Fraser Syndrome 1	Encephalocele, Corneal opacity, Abnormal pinna morphology, Myelomeningocele, Hydrocephalus, Cuppe...	OMIM:219000
Meningioma	Papilledema, Hemifacial spasm, Abnormal central motor function, Ataxia, Facial palsy, Hydrocephal...	ORPHA:2495
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Posteriorly rotated ears, Gait ataxia, Low-set ears, Macrotia, Ventr...	OMIM:617011
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ...	OMIM:249000
Osteogenesis Imperfecta	Mixed hearing impairment, Corneal opacity, Ataxia, Hydrocephalus, Noncommunicating hydrocephalus,...	ORPHA:666
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr...	ORPHA:228123
Fraser Syndrome 3	Hydrocephalus, Low-set ears, Simple ear	OMIM:617667
Craniopharyngioma	Papilledema, Hydrocephalus, Optic atrophy, Hearing impairment	ORPHA:54595
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Posteriorly rotated ears, Protruding ear, Low-set ears, Conductive h...	ORPHA:2462
Wiedemann-Rautenstrauch Syndrome	Cataract, Corneal opacity, Ataxia, Posteriorly rotated ears, Action tremor, Tremor, Hydrocephalus...	ORPHA:3455
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly, Low-set, posteriorly rotated ears	ORPHA:2166
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Thakker-Donnai Syndrome	Communicating hydrocephalus, Macrotia, Posteriorly rotated ears	ORPHA:1780
Acrofacial Dysostosis 1, Nager Type	Posteriorly rotated ears, Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Atresia of t...	OMIM:154400
Wiedemann-Rautenstrauch Syndrome	Cataract, Posteriorly rotated ears, Hydrocephalus, Hypertonia, Low-set ears, Truncal ataxia, Smal...	OMIM:264090
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Otosclerosis, Corneal opacity, Decreased nerve conducti...	ORPHA:580
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Low-set ears, Ventriculomegaly	OMIM:618188
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Cataract, Posteriorly rotated ears, Thickened helices, Asymmetry of the ears, ...	OMIM:607872
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Wolf-Hirschhorn Syndrome	Rieger anomaly, Abnormal pinna morphology, Hydrocephalus, Sensorineural hearing impairment, EEG a...	OMIM:194190
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Dextrocardia	Hydrocephalus	ORPHA:1666
Fanconi Anemia, Complementation Group L	Hydrocephalus, Anotia, Microtia, Low-set ears	OMIM:614083
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Optic nerve hypoplasia, Ventriculomegaly	ORPHA:457284
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal pinna morphology, Hydrocephalus, Abnormal earlobe morphology, Abnormal antihelix morphol...	ORPHA:95699
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Low-set ears, Hearing impairment	OMIM:227646
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus, Low-set ears, Hearing impairment	OMIM:311200
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Optic nerve compression	ORPHA:91350
Holoprosencephaly 9	Optic nerve hypoplasia, Hydrocephalus, Prominent antihelix, Holoprosencephaly, Macrotia, Underdev...	OMIM:610829
Yunis-Varon Syndrome	Cataract, Abnormal pinna morphology, Sclerocornea, Hydrocephalus, Low-set ears, Hearing impairment	ORPHA:3472
Cryptococcosis	Hydrocephalus, Abnormal cranial nerve morphology	ORPHA:1546
Baller-Gerold Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Hydrocephalus, Optic ...	OMIM:218600
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus, Optic disc coloboma, Protruding ear, Abnormal antihelix morphology, Abnormal helix...	ORPHA:261337
Focal Dermal Hypoplasia	Mixed hearing impairment, Ectopia lentis, Hydrocephalus, Myelomeningocele, Optic atrophy, Low-set...	OMIM:305600
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Uplifted earlobe, Sensorineural hearing impai...	OMIM:619841
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus, Microtia, Posteriorly rotated ears	ORPHA:163979
Campomelic Dysplasia	Spina bifida, Hydrocephalus, Spinal dysraphism, Low-set ears, Conductive hearing impairment, Hear...	OMIM:114290
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears, Gait ataxia, Macrotia, Ventriculo...	ORPHA:457359
Pseudoaminopterin Syndrome	Low-set, posteriorly rotated ears, Hydrocephalus, Mild conductive hearing impairment, Hypoplasia ...	ORPHA:221120
Marden-Walker Syndrome	Hydrocephalus, Posteriorly rotated ears, Low-set ears	ORPHA:2461
Peters-Plus Syndrome	Microtia, second degree, Cataract, Posteriorly rotated ears, Hydrocephalus, Protruding ear, Low-s...	OMIM:261540
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Large earlobe, Hydrocephalus, Optic atrophy	ORPHA:1106
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Macrotia, Facial palsy	ORPHA:2658
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Low-set ears	OMIM:306955
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Lymphangioleiomyomatosis	Hydrocephalus, Optic atrophy	ORPHA:538
Otopalatodigital Syndrome, Type Ii	Cataract, Posteriorly rotated ears, Spina bifida, Hydrocephalus, Low-set ears, Conductive hearing...	OMIM:304120
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Posteriorly rotated ears, Abnormal pinna morphology, Hydrocephalus, Fr...	OMIM:268300
Costello Syndrome	Posteriorly rotated ears, Hydrocephalus, Vestibular schwannoma, Low-set ears, Ventriculomegaly	OMIM:218040
Split Cord Malformation	Paraparesis, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Cervical spina b...	ORPHA:573278
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Lower limb dysmetria, Protruding ear, Lisch nodules	ORPHA:363700
Fontaine Progeroid Syndrome	Conductive hearing impairment, Hydrocephalus, Posteriorly rotated ears, Low-set ears	OMIM:612289
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Optic atrophy, Optic nerve hypoplasia	OMIM:619321
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hydrocephalus, Colpocephaly, Microtia, Lateral ventricle dilatation, Low-set ears	OMIM:210710
Kabuki Syndrome 1	Posteriorly rotated ears, Hydrocephalus, Protruding ear, Lateral ventricle dilatation, Low-set ea...	OMIM:147920
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin...	OMIM:619325
Fetal Akinesia Deformation Sequence 1	Hydrocephalus, Posteriorly rotated ears, Low-set ears	OMIM:208150
Townes-Brocks Syndrome 1	Overfolding of the superior helices, Hydrocephalus, Sensorineural hearing impairment, Microtia, S...	OMIM:107480
Tetrasomy 9P	Hydrocephalus, Abnormal earlobe morphology, Dandy-Walker malformation	ORPHA:3310
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Protruding ear, Lateral ventricle dilatation, Low-set ears, S...	OMIM:619534
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Craniofacial Microsomia 1	Occipital encephalocele, Conductive hearing impairment, Hydrocephalus, Sensorineural hearing impa...	OMIM:164210
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Hydrolethalus Syndrome 1	Abnormal pinna morphology, Anencephaly, Low-set ears, Severe hydrocephalus, Dandy-Walker malforma...	OMIM:236680
Simpson-Golabi-Behmel Syndrome, Type 1	Posterior helix pit, Hydrocephalus, Hearing impairment, Anterior creases of earlobe	OMIM:312870
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Golga1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Golga1.

No publications found that use IMPC mice or data for Golga1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Golga1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Golga1^{tm26888(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Golga1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Golga1^{tm26888(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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