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Gene: Vax2 MGI:1346018

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ventral anterior homeobox 2
Synonyms:
N/A

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 Vax2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Vax2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity OMIM:611105
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia OMIM:611638
Cataract 11, Multiple Types
Microphthalmia, Chorea, Hypertonia OMIM:610623
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy ORPHA:309169
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Normal pressure hydrocephalus, Kinetic tremor OMIM:611808
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma OMIM:616428
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy OMIM:612437
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Coloboma Of Macula
Macular coloboma OMIM:120300
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Xeroderma Pigmentosum, Complementation Group G
Tremor, Microphthalmia, Spasticity, Ataxia OMIM:278780
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Spinocerebellar Ataxia, Autosomal Recessive 4
Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign... OMIM:607317
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... ORPHA:216873
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Facial Clefting, Oblique, 1
Coloboma OMIM:600251
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... OMIM:164500
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Gombo Syndrome
Microphthalmia OMIM:233270
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Sensory axonal neu... OMIM:607458
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Abnormal optic nerve morphology, Macular dys... ORPHA:33445
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma OMIM:610023
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Microphthalmia ORPHA:1528
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex OMIM:601068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Retinal dysplasia OMIM:614830
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex, Myoclonus OMIM:613608
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Retinal dysplasia ORPHA:324416
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Joubert Syndrome 16
Coloboma, Retinal dystrophy OMIM:614465
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Joubert Syndrome 15
Retinopathy, Coloboma, Retinal dystrophy OMIM:614464
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... ORPHA:83461
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Microphthalmia, Isolated 6
Microphthalmia, Retinal fold OMIM:613517
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous... ORPHA:329284
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Ataxia, Retinal dysplasia OMIM:615771
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hydrocephalus, Optic atrophy, Spastic tetraparesis OMIM:619470
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy OMIM:616171
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... OMIM:615651
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Joubert Syndrome 23
Coloboma OMIM:616490
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Biemond Syndrome Type 2
Coloboma ORPHA:141333
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor OMIM:620158
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Abnormal pyramidal sign, Dysmetria, Abnormality of peripheral nerve conduction, Microphth... ORPHA:48431
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Progressive spasticity ORPHA:2528
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Optic atrophy, Ataxia OMIM:300983
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait OMIM:600363
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Cofs Syndrome
Hypertonia, Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Otodental Dysplasia
Coloboma OMIM:166750
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Abruzzo-Erickson Syndrome
Coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:921
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor ORPHA:1368
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Joubert Syndrome 22
Coloboma, Retinal dysplasia OMIM:615665
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Chorioretinal coloboma OMIM:120433
2Q24 Microdeletion Syndrome
Coloboma ORPHA:1617
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abnormal aut... OMIM:618049
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fasciculations, Upper ... ORPHA:276435
Lissencephaly 8
Appendicular spasticity, Microphthalmia, Occipital encephalocele, Optic atrophy OMIM:617255
Developmental And Epileptic Encephalopathy 1
Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hypertonia, Dystonia, Microphthal... OMIM:308350
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Coach Syndrome 2
Coloboma, Chorioretinal coloboma OMIM:619111
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Optic atrophy, Abnormal nerve conduction velocity ORPHA:99014
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Microphthalmia, Optic atrophy, Chorioretinal coloboma ORPHA:1473
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Freq... OMIM:159950
Behr Syndrome
Ataxia, Tremor, Babinski sign, Optic atrophy, Hypoplastic optic chiasm, Dysmetria, Progressive sp... OMIM:210000
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Myoclonus, Spastic paraparesis ORPHA:391417
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Spasticity, Rod-cone dystrophy, Intention tr... OMIM:614307
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Parapar... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia OMIM:618387
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Spasticity, Optic disc pallor OMIM:613730
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Ataxia, Tremor ORPHA:101075
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Tremor, Eyelid myoclonus, Clumsiness, Myoclonus, Limb myo... ORPHA:2590
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased number of pe... OMIM:302800
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Leber Optic Atrophy
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... OMIM:535000
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Microphthalmia, Syndromic 13
Microphthalmia, Chorioretinal coloboma OMIM:300915
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Mmep Syndrome
Microphthalmia ORPHA:3434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Hydrocephalus, Retinal dystrophy, Facial palsy OMIM:613155
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Ataxia, Tremor ORPHA:101078
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... ORPHA:206594
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... ORPHA:79263
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia OMIM:617916
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Warburg Micro Syndrome 1
Microphthalmia, Optic atrophy, Spastic diplegia OMIM:600118
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... ORPHA:240085
Srd5A3-Cdg
Optic atrophy, Coloboma, Rod-cone dystrophy, Optic disc hypoplasia ORPHA:324737
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
4H Leukodystrophy
Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit... ORPHA:289494
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Autosomal Dominant Keratitis
Aniridia, Coloboma, Hypoplasia of the fovea, Macular hypoplasia ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Coloboma OMIM:613153
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Spasticity OMIM:607694
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Ataxia, Decreased number of large peripheral myelinated... OMIM:208920
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Spasticity, Abnormal pyramidal sign, Optic nerve hypoplasia OMIM:614833
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Tremor, Abnormality of macular pigmentation, Abnormal au... ORPHA:97229
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr... OMIM:212550
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... ORPHA:282166
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Babinski sign, Torsion d... OMIM:128100
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... ORPHA:96
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Abnormality of retinal pigmentation ORPHA:858
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Peripheral axonal neuropathy, Tremor, Babinski sign, Optic atrophy, Slurred speec... ORPHA:137898
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Oculopalatocerebral Syndrome
Microphthalmia, Spasticity, Remnants of the hyaloid vascular system OMIM:257910
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:195
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxi... OMIM:616505
Spinocerebellar Ataxia Type 27
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Sensory axonal neuropathy ORPHA:98764
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Babinski sign, Optic... ORPHA:52368
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Pierpont Syndrome
Abnormal peripheral nervous system morphology, Microphthalmia, Hypertonia OMIM:602342
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid ORPHA:209956
Marcus-Gunn Syndrome
Coloboma, Abnormal fifth cranial nerve morphology, Morning glory anomaly ORPHA:91412
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma OMIM:619318
Pontocerebellar Hypoplasia, Type 11
Coloboma OMIM:617695
Peroxisome Biogenesis Disorder 5B
Ataxia, Retinal dystrophy, Tremor, Dysmetria, Oculomotor apraxia, Rod-cone dystrophy OMIM:614867
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... OMIM:607876
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin... OMIM:614298
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, Clonus, Hydrocephalus, Optic... ORPHA:370959
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Baraitser-Winter Syndrome 2
Coloboma OMIM:614583
Congenital Disorder Of Glycosylation, Type Iq
Coloboma, Optic atrophy OMIM:612379
Hartsfield Syndrome
Encephalocele, Microphthalmia, Lobar holoprosencephaly ORPHA:2117
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Optic atrophy, Unilateral microphthalmos OMIM:615085
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... OMIM:617013
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Optic atrophy, Myoc... ORPHA:442835
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait OMIM:616795
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Adams-Oliver Syndrome 2
Microphthalmia, Hydrocephalus, Optic atrophy, Limb hypertonia OMIM:614219
Meckel Syndrome, Type 8
Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia OMIM:613885
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:529665
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor OMIM:300887
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesi... OMIM:614381
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... OMIM:312080
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiol... OMIM:300894
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp... OMIM:618060
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopathy, Exudative vitreore... ORPHA:2788
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma OMIM:601357
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, R... OMIM:617710
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Frontonasal Dysplasia 1
Coloboma OMIM:136760
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormality of retinal pigmentation, Spastic dipl... ORPHA:290
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Spasticity OMIM:619694
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Microphthalmia... OMIM:152950
Norrie Disease
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp... OMIM:310600
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Spina bifida occulta OMIM:169550
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus OMIM:602501
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:1777
Microphthalmia, Syndromic 5
Coloboma, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Bresek Syndrome
Microphthalmia, Hydrocephalus, Aganglionic megacolon, Optic nerve hypoplasia ORPHA:85284
Pierpont Syndrome
Microphthalmia ORPHA:487825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Retinal degeneration OMIM:615249
Verheij Syndrome
Coloboma, Optic nerve hypoplasia OMIM:615583
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma ORPHA:464288
Neurooculocardiogenitourinary Syndrome
Coloboma OMIM:618652
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Coloboma OMIM:618659
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Coloboma OMIM:616789
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... OMIM:168600
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma OMIM:167730
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Joubert Syndrome 14
Encephalocele, Ataxia, Morning glory anomaly, Hydrocephalus, Meningocele, Optic atrophy, Micropht... OMIM:614424
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetr... OMIM:618527
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Bilateral microphthalmos ORPHA:77299
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Babinski sign, Optic atrophy, Spastic tetraplegia, Mic... OMIM:615663
Myoclonic-Astatic Epilepsy
Tremor, Microphthalmia, Abnormal pyramidal sign, Ataxia ORPHA:1942
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Ataxia, Dysmetria, Titubation OMIM:619405
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tr... ORPHA:48818
Solitary Median Maxillary Central Incisor
Coloboma, Cyclopia OMIM:147250
Walker-Warburg Syndrome
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Hydrocephalus, Opti... ORPHA:899
Refsum Disease
Abnormality of retinal pigmentation, Ataxia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Mic... ORPHA:773
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Dystonia, Retinal pigment epithelial mottling OMIM:614105
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Coloboma ORPHA:329224
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Tremor, Amyloid deposition in the vitreous humor, Abnormal ... OMIM:105210
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... ORPHA:99027
Monosomy 18P
Microphthalmia, Generalized dystonia, Holoprosencephaly ORPHA:1598
Moebius Syndrome
Poor coordination, Clumsiness, Facial diplegia, Dysdiadochokinesis, Microphthalmia OMIM:157900
Ritscher-Schinzel Syndrome 1
Coloboma OMIM:220210
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... ORPHA:240071
Nance-Horan Syndrome
Retinal detachment, Microphthalmia ORPHA:627
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Stevenson-Carey Syndrome
Coloboma OMIM:611961
15Q24 Microdeletion Syndrome
Coloboma ORPHA:94065
Warburg Micro Syndrome 3
Lower limb spasticity, Optic atrophy, Spastic tetraplegia, Ankle clonus, Microphthalmia OMIM:614222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Retinal detachment, Exaggerated startle response, Hydrocephalus, Optic atrophy, Re... OMIM:253800
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Microphthalmia OMIM:610651
Trisomy 13
Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia of the iris... ORPHA:3378
Familial Multiple Lipomatosis
Coloboma, Chorioretinitis ORPHA:199276
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia OMIM:611134
Temtamy Syndrome
Microphthalmia, Hypertonia, Chorioretinal coloboma OMIM:218340
Spondylo-Ocular Syndrome
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Coach Syndrome 1
Coloboma, Optic disc pallor OMIM:216360
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Dystonia, Tremor, Chorea... OMIM:606002
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Anterior Segment Dysgenesis 2
Aniridia, Coloboma OMIM:610256
Meckel Syndrome, Type 2
Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:603194
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypertonia, Microphthalmia, Cerebral palsy, Lens coloboma OMIM:618914
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia, Fasciculations ORPHA:99965
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Retinal dystrophy, Chorioretinal coloboma ORPHA:139471
Ring Chromosome 10 Syndrome
Microphthalmia, Aganglionic megacolon ORPHA:1438
Hydrolethalus
Microphthalmia, Hydrocephalus, Anophthalmia, Anencephaly ORPHA:2189
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia, Holoprosencephaly ORPHA:77298
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal... OMIM:612109
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma OMIM:617306
Joubert Syndrome 2
Encephalocele, Ataxia, Retinal dystrophy, Hydrocephalus, Optic disc coloboma, Chorioretinal colob... OMIM:608091
Joubert Syndrome 37
Oculomotor apraxia, Microphthalmia OMIM:619185
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma ORPHA:1553
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Optic atrophy, Chorioretinal coloboma ORPHA:494344
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Hydrocephalus OMIM:300863
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea,... ORPHA:25
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus, Retinal dystrophy OMIM:616538
Cree Mental Retardation Syndrome
Coloboma OMIM:606851
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Micro Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Microphthalmia, Spasticity ORPHA:2510
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Microphthalmia, Hypopigmentation of the fundus ORPHA:163649
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Microphthalmia, Macular coloboma OMIM:615145
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Optic atrophy, Hydrocephalus ORPHA:3301
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Branchio-Oculo-Facial Syndrome
Coloboma, Iris coloboma ORPHA:1297
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia ORPHA:240094
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Fanconi Anemia, Complementation Group S
Microphthalmia, Ataxia OMIM:617883
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Coloboma, Retinal dys... OMIM:236670
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism, Myoclonus ORPHA:1352
Seckel Syndrome 2
Microphthalmia OMIM:606744
Warburg Micro Syndrome 2
Microphthalmia, Optic atrophy, Spastic diplegia OMIM:614225
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Optic atrophy, Abnormal py... OMIM:234200
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Appendicular spasticity, Microphthalmia OMIM:618494
Congenital Fibrinogen Deficiency
Microphthalmia, Opisthotonus ORPHA:335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasi... OMIM:614643
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, Coloboma, Chorioretinal colobo... ORPHA:959
Otodental Syndrome
Microphthalmia, Lens coloboma, Retinal coloboma ORPHA:2791
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Hydrocephalus ORPHA:163966
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Hydrocephalus OMIM:602361
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Microphthalmia, Spasticity, Ataxia OMIM:278730
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... OMIM:606519
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:615530
Baraitser-Winter Syndrome 1
Microphthalmia, Chorioretinal coloboma OMIM:243310
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma OMIM:163200
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia ORPHA:228390
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus OMIM:617244
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma ORPHA:2399
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Ataxia, Incoordination, Spastic paraparesis ORPHA:369891
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
2Q31.1 Microdeletion Syndrome
Coloboma, Optic disc coloboma, Iris coloboma ORPHA:251014
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Optic atrophy OMIM:234050
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Hemiparesis, Hypertonia, Microphthalmia ORPHA:974
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Hypertonia OMIM:616395
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Micr... OMIM:221900
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... OMIM:146500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Coloboma ORPHA:251028
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Retinal vascular proliferation, Optic ... OMIM:308300
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Cerebrooculofacioskeletal Syndrome 4
Hypertonia, Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
Galloway-Mowat Syndrome 1
Ataxia, Optic atrophy, Spastic tetraplegia, Hypoplasia of the iris, Dystonia, Microphthalmia, Spa... OMIM:251300
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Abnormal optic nerve morphology, ... ORPHA:3412
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dystonia, Retinal arteriolar tortuosity, Hydrocephalus, Babinski sign, Retinal hemorrhage, Hypopl... OMIM:175780
Heart And Brain Malformation Syndrome
Microphthalmia, Limb hypertonia OMIM:616920
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma ORPHA:2328
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Optic disc colob... ORPHA:50
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Rodrigues Blindness
Microphthalmia OMIM:268320
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Microphthalmia, Spasticity, Remnants of the hyaloid vascular system ORPHA:2714
Jacobsen Syndrome
Hydrocephalus, Optic atrophy, Macular hypoplasia, Holoprosencephaly, Chorioretinal coloboma, Micr... OMIM:147791
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Facial palsy, Optic nerve hypoplasia, Coloboma, Abnormal optic disc morphology, Retinal coloboma,... ORPHA:508498
3P25.3 Microdeletion Syndrome
Microphthalmia, Ataxia ORPHA:435638
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Holoprosencephaly
Encephalocele, Anophthalmia, Chorea, Hydrocephalus, Optic atrophy, Spinal dysraphism, Holoprosenc... ORPHA:2162
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Spastic tetraplegia, Spastic diplegia,... OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Hydrocephalus, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dys... OMIM:253280
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Coloboma, Abnormal autonomic nervous system physiology ORPHA:453499
Stromme Syndrome
Retinal vascular tortuosity, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:243605
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Holoprosencephaly OMIM:612530
Martsolf Syndrome 1
Microphthalmia, Clonus, Spastic diplegia OMIM:212720
Incontinentia Pigmenti
Retinal detachment, Abnormal chorioretinal morphology, Eosinophilia, Retinal vascular proliferati... ORPHA:464
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Cockayne Syndrome
Abnormality of retinal pigmentation, Neurogenic bladder, Retinal atrophy, Retinal dystrophy, Opti... ORPHA:191
Oculofaciocardiodental Syndrome
Retinal detachment, Microphthalmia ORPHA:2712
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma OMIM:619135
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Retinopathy ORPHA:2505
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma OMIM:618571
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Phakomatosis Pigmentokeratotica
Coloboma ORPHA:2874
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Spasticity OMIM:616449
Microphthalmia, Lenz Type
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma ORPHA:568
Cockayne Syndrome B
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:133540
Frontorhiny
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Optic atrophy OMIM:618727
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:613001
Bohring-Opitz Syndrome
Coloboma, Retinal atrophy, Optic atrophy ORPHA:97297
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Bilateral microphthalmos, Retinal coloboma, Hydranencephaly ORPHA:2839
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Hallermann-Streiff Syndrome
Spina bifida, Optic disc coloboma, Choreoathetosis, Chorioretinal coloboma, Microphthalmia OMIM:234100
Duane-Radial Ray Syndrome
Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Retinal coloboma, Microphthalmia, Spi... OMIM:607323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele, Hydrocephalus OMIM:613150
Cohen Syndrome
Microphthalmia, Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation ORPHA:193
Meckel Syndrome
Encephalocele, Anophthalmia, Abnormal chorioretinal morphology, Hydrocephalus, Optic atrophy, Ane... ORPHA:564
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly OMIM:264480
Cockayne Syndrome Type 3
Optic disc pallor, Neurogenic bladder, Retinal atrophy, Retinal dystrophy, Peripheral axonal neur... ORPHA:90324
Trisomy 18
Abnormality of retinal pigmentation, Spina bifida, Anencephaly, Hypertonia, Holoprosencephaly, Mi... ORPHA:3380
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma OMIM:244300
Steinfeld Syndrome
Microphthalmia, Retinal coloboma, Holoprosencephaly OMIM:184705
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microphthalmia, Anencephaly OMIM:619148
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma OMIM:615877
Thauvin-Robinet-Faivre Syndrome
Coloboma, Retinal coloboma OMIM:617107
Acrocallosal Syndrome
Coloboma, Optic atrophy, Hypopigmentation of the fundus OMIM:200990
Atelis Syndrome 2
Microphthalmia, Remnants of the hyaloid vascular system, Vitreous hemorrhage, Dysmetria OMIM:620185
Histiocytoid Cardiomyopathy
Hydrocephalus, Optic atrophy, Hemiplegia, Microphthalmia, Congenital aphakia ORPHA:137675
Oculodentodigital Dysplasia
Neurogenic bladder, Ataxia, Paraparesis, Tetraparesis, Microphthalmia, Spasticity OMIM:164200
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Coloboma, Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Coloboma, Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:352665
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Microphthalmia, Papilledema OMIM:127000
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Optic nerve hypoplasia, Bilateral microphthalmos, Abnormal pyramidal sign, Lob... ORPHA:468631
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Coloboma, Optic atrophy OMIM:616975
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia OMIM:251230
Diarrhea 10, Protein-Losing Enteropathy Type
Coloboma OMIM:618183
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Meckel Syndrome 14
Microphthalmia, Occipital encephalocele, Holoprosencephaly OMIM:619879
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrocephalus, Chorioretinal coloboma ORPHA:268249
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia OMIM:613451
Trichothiodystrophy
Bilateral microphthalmos, Abnormal pyramidal sign, Gait ataxia, Macular degeneration, Hypertonia,... ORPHA:33364
Aicardi Syndrome
Retinal detachment, Spina bifida, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Micr... OMIM:304050
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Pigmentary retinopathy OMIM:614230
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Coloboma, Iris coloboma, Chorioretinal coloboma OMIM:619475
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Optic atrophy OMIM:201180
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia, Spina bifida, Chorioretinal coloboma ORPHA:2092
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphthalmia OMIM:610829
Galloway-Mowat Syndrome 3
Microphthalmia, Spasticity OMIM:617729
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele OMIM:601707
Mosaic Trisomy 9
Microphthalmia, Spina bifida ORPHA:99776
Phace Syndrome
Optic nerve hypoplasia, Hemiplegia/hemiparesis, Lens coloboma, Retinal vascular malformation, Mic... ORPHA:42775
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Spasticity ORPHA:464738
Holoprosencephaly 7
Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar h... OMIM:610828
Monosomy 9Q22.3
Microphthalmia, Hydrocephalus, Retinopathy ORPHA:77301
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Hypertonia ORPHA:1236
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Cousin Syndrome
Hydranencephaly, Microphthalmia, Hydrocephalus OMIM:260660
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Hypermyelinated retinal nerve fibers OMIM:601812
Esophageal Atresia
Coloboma ORPHA:1199
Mend Syndrome
Microphthalmia, Hydrocephalus, Abnormal auditory evoked potentials, Limb hypertonia ORPHA:401973
Fryns Syndrome
Microphthalmia, Aganglionic megacolon ORPHA:2059
1Q21.1 Microdeletion Syndrome
Microphthalmia, Hydrocephalus ORPHA:250989
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Kabuki Syndrome
Coloboma ORPHA:2322
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly ORPHA:2166
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Delayed peripheral myelination ORPHA:364577
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Microphthalmia With Limb Anomalies
Microphthalmia, Hydrocephalus, Optic atrophy, True anophthalmia ORPHA:1106
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Hy... ORPHA:2556
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Holoprosencephaly, Chorioretinal colob... ORPHA:141099
Bosma Arhinia Microphthalmia Syndrome
Coloboma OMIM:603457
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hydrocephalus, Pigmentary retinopathy OMIM:309801
Basal Cell Nevus Syndrome 1
Microphthalmia, Hydrocephalus, Spina bifida OMIM:109400
Cat Eye Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:115470
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Rod-cone dystrophy OMIM:223370
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Microphthalmia OMIM:259770
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microphthalmia OMIM:616300
Pallister-Hall Syndrome
Microphthalmia, Holoprosencephaly OMIM:146510
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Rubinstein-Taybi Syndrome 1
Coloboma OMIM:180849
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Charge Syndrome
Anophthalmia, Facial palsy, Aqueductal stenosis, Optic atrophy, Holoprosencephaly, Chorioretinal ... ORPHA:138
Monosomy 13Q14
Microphthalmia, Holoprosencephaly, Retinoblastoma ORPHA:1587
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Spina bifida, Retinal arteriolar tortuosity, Hydrocephalus, Meningocele, O... ORPHA:567
Fanconi Anemia, Complementation Group L
Microphthalmia, Hydrocephalus OMIM:614083
Treacher-Collins Syndrome
Blepharospasm, Microphthalmia, Encephalocele ORPHA:861
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Holoprosencephaly, Retinoblastoma, Chorioretinal coloboma OMIM:613884
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Coloboma, Retinopathy ORPHA:353281
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Fanconi Anemia, Complementation Group D2
Microphthalmia, Hydrocephalus OMIM:227646
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Holoprosencephaly ORPHA:1052
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Chorioretinal dysplasia, Clonus ORPHA:534
Proximal Renal Tubular Acidosis
Coloboma ORPHA:47159
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Renpenning Syndrome 1
Coloboma OMIM:309500
Isolated Arrhinia
Microphthalmia ORPHA:1134
Fanconi Anemia
Aganglionic megacolon, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Spasti... OMIM:300166
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Papilledema, Bilateral microphthalmos ORPHA:93325
Focal Dermal Hypoplasia
Anophthalmia, Hydrocephalus, Myelomeningocele, Optic atrophy, Chorioretinal coloboma, Aniridia, M... OMIM:305600
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Holoprosencephaly ORPHA:3186
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Monosomy 9P
Microphthalmia, Hypertonia ORPHA:261112
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Torticollis OMIM:609945
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Holoprosencephaly, Chorioretin... OMIM:157170
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Optic disc coloboma, Facial palsy OMIM:620186
Charge Syndrome
Coloboma, Facial palsy, Retinal coloboma, Iris coloboma OMIM:214800
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Meckel Syndrome, Type 1
Microphthalmia, Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:249000
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Coloboma ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Coloboma ORPHA:353277
Myhre Syndrome
Microphthalmia, Ataxia OMIM:139210
Fraser Syndrome 2
Microphthalmia OMIM:617666
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Fryns Syndrome
Microphthalmia, Aganglionic megacolon OMIM:229850
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus OMIM:273395
Holoprosencephaly 1
Microphthalmia, Ethmocephaly, Alobar holoprosencephaly OMIM:236100
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Microphthalmia, Syndromic 6
Coloboma, Retinal dystrophy OMIM:607932
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Degcags Syndrome
Microphthalmia, Vocal cord paralysis OMIM:619488
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Microphthalmia OMIM:612474
Fontaine Progeroid Syndrome
Microphthalmia, Hydrocephalus OMIM:612289
Yunis-Varon Syndrome
Microphthalmia, Hydrocephalus, Bilateral microphthalmos ORPHA:3472
Roberts Syndrome
Microphthalmia ORPHA:3103
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Fraser Syndrome
Encephalocele, Microphthalmia, Myelomeningocele, Anophthalmia ORPHA:2052
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Biliary, Renal, Neurologic, And Skeletal Syndrome
Coloboma OMIM:619534
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Remnants of the hyaloid vascular system OMIM:619539
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Neu-Laxova Syndrome 1
Hydranencephaly, Microphthalmia, Spina bifida OMIM:256520
Fraser Syndrome 1
Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele, Bilateral microphthalmos OMIM:219000
Hydrolethalus Syndrome 1
Microphthalmia, Anencephaly, Severe hydrocephalus OMIM:236680
8Q24.3 Microdeletion Syndrome
Spina bifida occulta, Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia ORPHA:508488
Roberts-Sc Phocomelia Syndrome
Coloboma OMIM:268300
Witteveen-Kolk Syndrome
Microphthalmia, Poor motor coordination OMIM:613406
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia, Retinal coloboma, Facial palsy OMIM:113620
Pallister-Hall Syndrome
Microphthalmia, Holoprosencephaly ORPHA:672
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Mowat-Wilson Syndrome
Microphthalmia, Aganglionic megacolon, Chorioretinal coloboma OMIM:235730
Microphthalmia, Syndromic 1
Anophthalmia, Aganglionic megacolon, Optic disc coloboma, Spastic diplegia, Chorioretinal colobom... OMIM:309800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Optic atrophy, Poor fine motor coordination, Retinal coloboma, Microphthal... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Poor fine motor coordination, Retinal coloboma, Microphthalmia, Spasticity ORPHA:261537
Mowat-Wilson Syndrome
Ataxia, Aganglionic megacolon, Retinal coloboma, Microphthalmia, Spasticity ORPHA:2152
Townes-Brocks Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:857
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Craniofacial Microsomia 1
Microphthalmia, Occipital encephalocele, Anophthalmia, Hydrocephalus OMIM:164210

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 Vax2

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 Vax2.

No publications found that use IMPC mice or data for Vax2.

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
Vax2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Vax2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Vax2em1(IMPC)Ccpcz Exon Deletion Mice

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