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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma OMIM:613703
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Retinal dysplasia, Microphthalmia OMIM:615771
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Cataract 11, Multiple Types
Hypertonia, Chorea, Microphthalmia OMIM:610623
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity OMIM:611105
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Glutathionuria
Tremor OMIM:231950
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma OMIM:611638
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus OMIM:611808
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Coloboma OMIM:602499
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Coloboma Of Macula
Macular coloboma OMIM:120300
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity, Microphthalmia OMIM:278780
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Sensory axonal neuropathy, Dysmetria OMIM:612437
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... OMIM:607317
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Retinopathy, Abnormal pyramidal sign, Parkinsonism, Rigidity,... ORPHA:216873
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fasciculations, ... ORPHA:65684
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Optic atrophy, Tremor, Spa... OMIM:270500
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Chorioretinal coloboma OMIM:616428
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Foveal Hypoplasia 2
Optic nerve misrouting, Microphthalmia, Hypoplasia of the fovea, Foveal hyperpigmentation OMIM:609218
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Enhancement of the C-reflex OMIM:615127
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Macular degeneration, Dysmetria, Babinski sign, Pigmentary retinop... OMIM:164500
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Gombo Syndrome
Microphthalmia OMIM:233270
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Prolonged somatosensory evoked potentials, Myoclonus, Writer's cramp, Tremor, Paroxysmal dystonia OMIM:608105
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Retinopathy, Optic atrophy, Optic disc pallor, Microphthalmia OMIM:616171
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Coloboma OMIM:120433
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
Mental Retardation Syndrome, Belgian Type
Coloboma OMIM:249599
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Rigidity, Optic atrophy, Tremor, Aplasia/Hypoplasia of the macula, Spasticity... ORPHA:33445
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Bradykinesia, Resting tremor OMIM:616710
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Hypertonia, Decreased sensory nerve conduction velocity, Onion bulb fo... OMIM:609260
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Progressive gait... OMIM:607458
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Tremor, Progressive spasticity OMIM:210000
Facial Clefting, Oblique, 1
Coloboma OMIM:600251
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma OMIM:274270
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Retinal dysplasia, Microphthalmia OMIM:614830
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Coloboma OMIM:610023
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... OMIM:615113
Epilepsy, Familial Adult Myoclonic, 1
Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex OMIM:601068
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma ORPHA:324416
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Optic atrophy, Septo-optic dysplasia, Microphthalmia, Frontal enc... ORPHA:1528
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Hydrocephalus, Optic atrophy, Tremor, Spastic tetraparesis OMIM:619470
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Retinal detachment, Retinal dystrophy, Microphthalmia, Chorioretinal coloboma OMIM:212550
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Microphthalmia, Retinal detachment, Retinal dystrophy, Optic... OMIM:251270
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... OMIM:180800
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Joubert Syndrome 16
Retinal dystrophy, Coloboma OMIM:614465
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Peripheral axonal neuropathy OMIM:619099
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Joubert Syndrome 23
Coloboma OMIM:616490
Epilepsy, Familial Adult Myoclonic, 3
Giant somatosensory evoked potentials, Tremor, Myoclonus, Enhancement of the C-reflex OMIM:613608
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior ... ORPHA:83461
Treacher Collins Syndrome 3
Coloboma OMIM:248390
Treacher Collins Syndrome 2
Coloboma OMIM:613717
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity OMIM:615768
Idiopathic Uveal Effusion Syndrome
Retinal fold, Microphthalmia, Subretinal fluid, Exudative retinal detachment ORPHA:209956
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Microphthalmia, Retinal degeneration, Macular atrophy OMIM:267760
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... ORPHA:454887
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Parkinsonism, Ri... ORPHA:329284
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Microphthalmia, Rhegmatogenous retinal detachment, Peripheral retinal avascu... ORPHA:891
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Incoordination OMIM:614947
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Microphthalmia OMIM:218670
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Abnormality of e... OMIM:300894
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilateral microphthalm... ORPHA:137902
Dextrocardia With Unusual Facies And Microphthalmia
Choreoathetosis, Anophthalmia, Microphthalmia OMIM:221950
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Microphthalmia, Peripheral retinal avascularization, Falciform retin... OMIM:305390
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Biemond Syndrome Type 2
Coloboma ORPHA:141333
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Microphtha... ORPHA:48431
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity ORPHA:363710
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Facial palsy, Myoclonus, Fasciculations, Frequent falls, Tre... OMIM:159950
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dystrophy, Iris coloboma, ... ORPHA:231736
Microphthalmia, Syndromic 13
Coloboma OMIM:300915
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Microcephaly-Microcornea Syndrome, Seemanova Type
Progressive spasticity, Microphthalmia ORPHA:2528
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor ORPHA:1368
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Cofs Syndrome
Optic atrophy, Hypertonia, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1466
Abruzzo-Erickson Syndrome
Coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:921
Otodental Dysplasia
Coloboma OMIM:166750
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... ORPHA:397946
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Hydrocephalus, Rod-cone dystrophy, Microphthalmia OMIM:601794
2Q24 Microdeletion Syndrome
Coloboma ORPHA:1617
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Peripheral axonal neuropath... ORPHA:401768
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Ataxia, Spasticity OMIM:300983
Joubert Syndrome 22
Retinal dysplasia, Coloboma OMIM:615665
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Incoordination OMIM:213200
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Peripheral axonal neuropathy, Tremor, Gait ataxia OMIM:618387
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Optic atrophy, Tremor, Abnormal nerve conduction velocity ORPHA:99014
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Peripheral axonal neuropathy OMIM:616668
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Microphthalmia, Chorioretinal coloboma ORPHA:1473
Lissencephaly 8
Optic atrophy, Appendicular spasticity, Occipital encephalocele, Microphthalmia OMIM:617255
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Abnormal autonomic nervous system physiology, Oculogyric crisis, Dysdiadochokinesis, Park... OMIM:618049
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia OMIM:615010
Coach Syndrome 2
Chorioretinal coloboma, Coloboma OMIM:619111
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis, Dystonia OMIM:261640
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Choreoathetosis ORPHA:391417
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Rod-cone dystrophy, Intention tremor, Pigmentary retinopathy, Hemiparesis, Tremor, Spasti... OMIM:614307
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysdiadochokinesis, Ba... OMIM:615157
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Developmental And Epileptic Encephalopathy 1
Hypertonia, Erratic myoclonus, Abnormal pyramidal sign, Choreoathetosis, Microphthalmia, Spastic ... OMIM:308350
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Tongue fasciculations, Fasciculations, Abnormal sensory nerve conduction velocity ORPHA:276435
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonus, Limb myoclonus, Abnormal lower motor neuron morphology, Tremor, Frequent f... ORPHA:2590
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Optic atrophy, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia,... OMIM:617145
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Dysmetria, Axonal degeneration, Hand tremor, Onion bulb formation, Decreased motor n... OMIM:302800
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Mmep Syndrome
Microphthalmia ORPHA:3434
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Retinal degeneration, Macular degeneration, Laryngeal... ORPHA:99
Multiple System Atrophy
Axial dystonia, Progressive cerebellar ataxia, Autonomic erectile dysfunction, Abnormal autonomic... ORPHA:102
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity OMIM:619028
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Leber Optic Atrophy
Optic neuropathy, Ataxia, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ... OMIM:535000
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia OMIM:617435
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hydrocephalus, Retinal detachment, Microphthalmia OMIM:615181
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Coloboma ORPHA:324737
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Tremor, Oculogyric crisis, Dystonia ORPHA:330050
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Abnormal peripheral action potential amplitude,... ORPHA:90117
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:139485
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Optic neuropathy, Ataxia, Action tremor, Progressive cerebellar ataxia, D... ORPHA:101
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Microphthalm... OMIM:120200
Warburg Micro Syndrome 1
Optic atrophy, Spastic diplegia, Microphthalmia OMIM:600118
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
4H Leukodystrophy
Ataxia, Dysmetria, Dysdiadochokinesis, Optic atrophy, Tremor, Progressive gait ataxia, Dystonia, ... ORPHA:289494
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Tremor, ... ORPHA:240085
Meckel Syndrome, Type 8
Encephalocele, Anophthalmia, Microphthalmia OMIM:613885
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria OMIM:618090
Autosomal Dominant Keratitis
Macular hypoplasia, Aniridia, Hypoplasia of the fovea, Coloboma ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Coloboma OMIM:613153
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:619738
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Tremor, Spasticity, Postural tremor, Dystonia OMIM:607694
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Head titubation, Tre... OMIM:618877
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Abnormal pyramidal sign, Spasticity, Microphthalmia OMIM:614833
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Riboflavin Transporter Deficiency
Ataxia, Abnormal autonomic nervous system physiology, Abnormality of macular pigmentation, Myoclo... ORPHA:97229
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Limb ataxia, Axonal degener... OMIM:208920
Atypical Rett Syndrome
Hand apraxia, Pill-rolling tremor, Stereotypical hand wringing, Tongue thrusting, Limb myoclonus,... ORPHA:3095
Parkinson-Dementia Syndrome
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Rod-cone dystrophy, Microphthalmia ORPHA:363741
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Peroxisome Biogenesis Disorder 5B
Ataxia, Rod-cone dystrophy, Dysmetria, Retinal dystrophy, Tremor, Oculomotor apraxia OMIM:614867
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Dysmetria, Dysdi... ORPHA:96
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity, Myoclonus OMIM:616494
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Blepharospasm, Babinski sign, Tremor, Writer's c... OMIM:128100
Pontocerebellar Hypoplasia, Type 11
Coloboma OMIM:617695
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Congenital Toxoplasmosis
Hydrocephalus, Abnormality of retinal pigmentation, Microphthalmia ORPHA:858
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatomical site, Abnorma... ORPHA:99750
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... OMIM:607483
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Spasticity, Microphthalmia OMIM:257910
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma OMIM:617306
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:195
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma OMIM:619318
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordination, Spastic atax... ORPHA:137898
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... OMIM:603472
Pierpont Syndrome
Hypertonia, Abnormal peripheral nervous system morphology, Microphthalmia OMIM:602342
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia OMIM:233910
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Absent brainstem auditory responses, Ankle clonus, Babinski sign, Abnorma... ORPHA:52368
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Joubert Syndrome 14
Hydrocephalus, Ataxia, Morning glory anomaly, Microphthalmia, Encephalocele OMIM:614424
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Marcus-Gunn Syndrome
Morning glory anomaly, Abnormal fifth cranial nerve morphology, Coloboma ORPHA:91412
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Peripheral axonal neur... OMIM:616505
Spinocerebellar Ataxia Type 27
Hand tremor, Limb ataxia, Truncal ataxia, Sensory axonal neuropathy, Tremor, Gait ataxia ORPHA:98764
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Clumsiness, Bradykinesia, Hand tremor, Resting tremor, Ankle clonus, Pill-rolling... OMIM:612953
Baraitser-Winter Syndrome 2
Coloboma OMIM:614583
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia OMIM:614831
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral palsy, Tremor, Dystonia ORPHA:70594
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly, Microphthalmia ORPHA:2117
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia OMIM:614219
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Ch... OMIM:300055
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Tremor, Enhancement of t... OMIM:607876
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Abnormal lo... OMIM:614298
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Coloboma OMIM:612379
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Optic atrophy, Tremor, Gait ataxia, Spasticity, Oculomotor apraxia ORPHA:529665
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Dystonia ORPHA:306669
Dopa-Responsive Dystonia
Leg dystonia, Poor coordination, Abnormality of extrapyramidal motor function, Oculogyric crisis,... ORPHA:255
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Microphthalmia, Optic nerve hypoplasia, Retinal detachment, Abnormal pyramidal sig... ORPHA:370959
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Babinski sign, Park... OMIM:617013
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Optic atrophy, ... OMIM:614381
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma OMIM:601357
Spinocerebellar Ataxia 42
Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, Spastic gait, Spastic ataxia OMIM:616795
Pelizaeus-Merzbacher Disease
Ataxia, Intention tremor, Abnormal pyramidal sign, Progressive spastic quadriplegia, Head titubat... OMIM:312080
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Retinal detachment, Abnormal vitreous humor morphology, Microphthalm... ORPHA:2788
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia ORPHA:1170
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Verheij Syndrome
Coloboma OMIM:615583
Congenital Rubella Syndrome
Spastic diplegia, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Microphtha... ORPHA:290
Frontonasal Dysplasia 1
Coloboma OMIM:136760
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Abnormality of coordinat... ORPHA:352649
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Abnormal pyramidal sign, Incoordination, Spina bifida occulta, Tremor, Oculomotor apraxia... OMIM:618060
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Bresek Syndrome
Optic nerve hypoplasia, Hydrocephalus, Aganglionic megacolon, Microphthalmia ORPHA:85284
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia, Retinal detachment, Optic atrophy, Retinal fold, Chorioretinal dysplasia, Chorior... OMIM:152950
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Microphthalmia OMIM:602501
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Abnormal autonomic nervous system physiology, Macular degeneration, Resting tremor, Inten... ORPHA:247234
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Retinal degeneration, Limb hypertonia, Myoclonus, Rigidity, Optic atrophy, Tremor, Involu... ORPHA:442835
Pierpont Syndrome
Microphthalmia ORPHA:487825
Norrie Disease
Buphthalmos, Retinal detachment, Optic atrophy, Hypoplasia of the iris, Retinal fold, Microphthal... OMIM:310600
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:1777
Developmental Delay With Variable Neurologic And Brain Abnormalities
Spasticity, Microphthalmia OMIM:619694
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination OMIM:608768
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Optic disc coloboma OMIM:169550
Myopathy With Extrapyramidal Signs
Ataxia, Clumsiness, Peripheral axonal neuropathy, Chorea, Optic atrophy, Tremor, Frequent falls, ... OMIM:615673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Coloboma OMIM:615249
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Decreased nerve conduction veloci... ORPHA:206443
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Dystonia, Microphthalmia OMIM:614105
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma ORPHA:464288
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Rod-cone dystrophy, Dysmetria, Limb hypertonia, Athetosis, Optic atrophy, Tre... OMIM:617710
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Retinal dystrophy, Coloboma OMIM:610125
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Coloboma OMIM:618659
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Coloboma OMIM:616789
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnormality of extrapyramidal mo... OMIM:613280
Neurooculocardiogenitourinary Syndrome
Coloboma OMIM:618652
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Aceruloplasminemia
Torticollis, Ataxia, Abnormality of retinal pigmentation, Blepharospasm, Retinal degeneration, Ma... ORPHA:48818
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Ataxia, Titubation, Dysmetria OMIM:619405
Myoclonic-Astatic Epilepsy
Tremor, Ataxia, Abnormal pyramidal sign, Microphthalmia ORPHA:1942
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Spasticity, Tetraplegia OMIM:616586
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma OMIM:167730
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos, Spasticity, Tongue thrusting ORPHA:77299
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Dysmetria, Babinski sign, Spastic paraplegia, Optic disc pallor, Tremor, Spasticity, Neur... OMIM:618527
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Refsum Disease
Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Retinopathy, Abnormal pyrami... ORPHA:773
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Babinski sign, Optic atrophy, Spastic tetraplegia, Mic... OMIM:615663
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Cerebral palsy, Microphthalmia, Lens coloboma OMIM:618914
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dy... OMIM:105210
Solitary Median Maxillary Central Incisor
Cyclopia, Coloboma OMIM:147250
Walker-Warburg Syndrome
Hydrocephalus, Microphthalmia, Retinal detachment, Anophthalmia, Retinal dystrophy, Optic atrophy... ORPHA:899
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Bilateral microphthalmos, Chorioretinal coloboma OMIM:600122
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia, Fasciculations ORPHA:99965
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Cree Mental Retardation Syndrome
Coloboma OMIM:606851
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Microphthalmia OMIM:611561
Monosomy 18P
Microphthalmia, Generalized dystonia, Holoprosencephaly ORPHA:1598
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Nance-Horan Syndrome
Retinal detachment, Microphthalmia ORPHA:627
Ritscher-Schinzel Syndrome 1
Coloboma OMIM:220210
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Coloboma ORPHA:329224
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Abnormal autonomic nervous system physiology, Rigidity, Parkinsonis... OMIM:168600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Coloboma, Retinal... ORPHA:85167
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Spasticity... ORPHA:99027
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Rigidity, ... OMIM:616840
Warburg Micro Syndrome 3
Optic atrophy, Ankle clonus, Spastic tetraplegia, Microphthalmia OMIM:614222
Moebius Syndrome
Facial diplegia, Clumsiness, Poor coordination, Dysdiadochokinesis, Microphthalmia OMIM:157900
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Microphthalmia OMIM:610651
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Trisomy 13
Abnormal retinal vascular morphology, Anophthalmia, Optic atrophy, Microphthalmia, Aplasia/Hypopl... ORPHA:3378
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Blepharospasm, Retinal degeneration, Bradykinesia, Babinski sign, Abnormal pyramidal sign... OMIM:234200
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240071
Stevenson-Carey Syndrome
Coloboma OMIM:611961
Familial Multiple Lipomatosis
Chorioretinitis, Coloboma ORPHA:199276
Hydrolethalus
Hydrocephalus, Anencephaly, Arrhinencephaly, Anophthalmia, Microphthalmia ORPHA:2189
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos, Ethmoidal encephalocele OMIM:607597
Coach Syndrome 1
Optic disc pallor, Coloboma OMIM:216360
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Meningocele, Microphthalmia, Encephalocele OMIM:611134
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Chronic axonal neuropathy, Limb ataxia, Decreased motor nerve conduction velocity, Abnormal pyram... OMIM:606002
Meckel Syndrome, Type 2
Encephalocele, Microphthalmia, Anencephaly, Meningocele OMIM:603194
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma ORPHA:139471
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Microphthalmia ORPHA:1438
15Q24 Microdeletion Syndrome
Coloboma ORPHA:94065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Exaggerated startle response, Holoprosencephaly, Retinal detachment, Optic atrophy... OMIM:253800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Microphthalmia, Anophthalmia, Holoprosencephaly ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Hydrocephalus, Retinal dystrophy, Microphthalmia OMIM:616538
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Dystonia OMIM:615530
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Oculoauricular Syndrome
Microphakia, Microphthalmia, Phthisis bulbi, Rod-cone dystrophy, Retinal coloboma, Morning glory ... OMIM:612109
Anterior Segment Dysgenesis 2
Aniridia, Coloboma OMIM:610256
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Warburg Micro Syndrome 2
Optic atrophy, Spastic diplegia, Microphthalmia OMIM:614225
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Microphthalmia OMIM:300863
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Joubert Syndrome 37
Oculomotor apraxia, Microphthalmia OMIM:619185
Curry-Jones Syndrome
Optic disc coloboma, Microphthalmia ORPHA:1553
Migraine, Familial Hemiplegic, 2
Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Apraxia, Episodic ataxia OMIM:602481
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Tetanus
Hypertonia, Opisthotonus, Abnormal autonomic nervous system physiology, Rigidity, Autonomic bladd... ORPHA:3299
Joubert Syndrome 2
Hydrocephalus, Ataxia, Optic disc coloboma, Retinal dystrophy, Microphthalmia, Oculomotor apraxia... OMIM:608091
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Microphthalmia, Phthisis bulbi, Buphthalmos, Hyaloid vas... ORPHA:91495
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Microphthalmia, Chorioretinal coloboma ORPHA:494344
Curry-Jones Syndrome
Coloboma OMIM:601707
Micro Syndrome
Abnormality of retinal pigmentation, Retinal coloboma, Optic atrophy, Spasticity, Microphthalmia ORPHA:2510
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Rigidity, Retinal hemorrhage, Communicating hydrocephalus, Athetosis, Chorea, Tremor, Lim... ORPHA:25
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Microphthalmia, Hypopigmentation of the fundus ORPHA:163649
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Hydrocephalus, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Rigidity, Spasticity, Tremor OMIM:176500
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
Branchio-Oculo-Facial Syndrome
Iris coloboma, Coloboma ORPHA:1297
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus, Ocular albinism, Microphthalmia ORPHA:1352
Tay-Sachs Disease
Clumsiness, Exaggerated startle response, Laryngeal dystonia, Cherry red spot of the macula, Dysm... ORPHA:845
Seckel Syndrome 2
Microphthalmia OMIM:606744
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Coloboma, Iris coloboma, Optic disc hypoplasia, Aganglionic megacolon, Chori... ORPHA:959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Hydrocephalus, Optic nerve hypoplasia, Retinal detachmen... OMIM:614643
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Microphthalmia OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Retinal detachment, Coloboma, Optic atrophy, Retinal atrophy, Retinal dys... OMIM:236670
Gracile Bone Dysplasia
Hydrocephalus, Aniridia, Microphthalmia OMIM:602361
Wolfram Syndrome 1
Ataxia, Pigmentary retinopathy, Optic atrophy, Tremor, Neurogenic bladder OMIM:222300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Microphthalmia ORPHA:163966
Otodental Syndrome
Retinal coloboma, Lens coloboma, Microphthalmia ORPHA:2791
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Microphthalmia, Increased retinal vascula... OMIM:606519
Baraitser-Winter Syndrome 1
Microphthalmia, Chorioretinal coloboma OMIM:243310
Congenital Fibrinogen Deficiency
Opisthotonus, Microphthalmia ORPHA:335
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia ORPHA:228390
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Choreoathetosis, Spasticity, Microphthalmia OMIM:278730
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microphthalmia OMIM:234050
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia, Microphthalmia ORPHA:435638
Papillorenal Syndrome
Macular degeneration, Retinal coloboma, Morning glory anomaly, Chorioretinal atrophy, Retinal det... OMIM:120330
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma OMIM:163200
Adams-Oliver Syndrome
Hypertonia, Hydrocephalus, Hemiparesis, Microphthalmia, Encephalocele ORPHA:974
Charcot-Marie-Tooth Disease Type 4B2
Poor fine motor coordination, Buphthalmos, Myelin outfoldings, Optic atrophy, Tremor, Decreased d... ORPHA:99956
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma ORPHA:2399
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Reti... OMIM:221900
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Cerebrooculofacioskeletal Syndrome 4
Abnormal retinal morphology, Hypertonia, Bilateral microphthalmos OMIM:610758
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Vacterl With Hydrocephalus
Hydrocephalus, Microphthalmia, Aqueductal stenosis, Anophthalmia, Arrhinencephaly, Abnormality of... ORPHA:3412
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia, Retinal dystrophy ORPHA:713
Trichothiodystrophy 3, Photosensitive
Hypertonia, Microphthalmia OMIM:616395
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
2Q31.1 Microdeletion Syndrome
Iris coloboma, Optic disc coloboma, Coloboma ORPHA:251014
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Coloboma ORPHA:251028
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Ataxia, Bilateral microphthalmos, Spastic paraparesis ORPHA:369891
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Babi... OMIM:146500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemiplegia, Hydrocephalus, Microphthalmia, Babinski sign, Facial paralysis, Retinal hemorrhage, H... OMIM:175780
Kapur-Toriello Syndrome
Retinal coloboma, Microphthalmia ORPHA:2328
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Incontinentia Pigmenti
Retinal vascular proliferation, Eosinophilia, Retinal detachment, Hypoplasia of the fovea, Retina... OMIM:308300
Heart And Brain Malformation Syndrome
Limb hypertonia, Microphthalmia OMIM:616920
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Ataxia, Retinal telangiectasia, Abnormality of extrapyramidal motor function, Abnorma... OMIM:612199
Galloway-Mowat Syndrome 1
Ataxia, Optic atrophy, Hypoplasia of the iris, Spasticity, Spastic tetraplegia, Microphthalmia, D... OMIM:251300
Aicardi Syndrome
Hypertonia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Retinal detachment, Opti... ORPHA:50
Rodrigues Blindness
Microphthalmia OMIM:268320
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Hypertonia, Abnormality of retinal pigmentation, Microphthalmia, Retinopathy, Retinal detachment,... ORPHA:2526
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Jacobsen Syndrome
Hydrocephalus, Microphthalmia, Holoprosencephaly, Optic atrophy, Spasticity, Macular hypoplasia, ... OMIM:147791
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Spasticity, Microphthalmia ORPHA:2714
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Optic nerve hypoplasia, Coloboma, Iris coloboma, Abnormal optic disc morphology... ORPHA:508498
Holoprosencephaly
Hydrocephalus, Holoprosencephaly, Retinopathy, Anophthalmia, Chorea, Optic atrophy, Spinal dysrap... ORPHA:2162
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Hydrocephalus, Retinal degeneration, Buphthalmos, Myoclonus, Optic atro... OMIM:253280
Microphthalmia, Syndromic 3
Spastic diplegia, Optic nerve hypoplasia, Anophthalmia, Spastic tetraplegia, Microphthalmia, Opti... OMIM:206900
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Pierson Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Retinal hemorrhage, ... OMIM:609049
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Holoprosencephaly OMIM:612530
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Stromme Syndrome
Retinal vascular tortuosity, Hydrocephalus, Optic nerve hypoplasia, Microphthalmia OMIM:243605
Oculofaciocardiodental Syndrome
Retinal detachment, Microphthalmia ORPHA:2712
Cockayne Syndrome
Hypertonia, Ataxia, Abnormality of retinal pigmentation, Action tremor, Decreased nerve conductio... ORPHA:191
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma OMIM:619135
Cockayne Syndrome B
Abnormal peripheral myelination, Ataxia, Normal pressure hydrocephalus, Decreased nerve conductio... OMIM:133540
Incontinentia Pigmenti
Hemiplegia/hemiparesis, Retinal vascular proliferation, Eosinophilia, Retinal detachment, Retinal... ORPHA:464
Multiple Benign Circumferential Skin Creases On Limbs
Retinopathy, Microphthalmia ORPHA:2505
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Martsolf Syndrome 1
Spastic diplegia, Microphthalmia, Clonus OMIM:212720
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Hypoplasia of the iris, Microphthalmia OMIM:613001
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Coloboma ORPHA:453499
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Frontorhiny
Encephalocele, Cranium bifidum occultum, Basal encephalocele, Microphthalmia ORPHA:391474
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Retinal coloboma, Microphthalmia OMIM:618571
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia OMIM:618727
Microphthalmia, Lenz Type
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma ORPHA:568
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Oculodentodigital Dysplasia
Paraparesis, Ataxia, Tetraparesis, Spasticity, Microphthalmia, Neurogenic bladder OMIM:164200
Cockayne Syndrome Type 3
Retinal degeneration, Intention tremor, Peripheral axonal neuropathy, Retinal dystrophy, Retinal ... ORPHA:90324
Pelvis-Shoulder Dysplasia
Hydrocephalus, Retinal coloboma, Hydranencephaly, Bilateral microphthalmos, Spina bifida ORPHA:2839
Meckel Syndrome
Hydrocephalus, Anencephaly, Anophthalmia, Abnormal chorioretinal morphology, Optic atrophy, Micro... ORPHA:564
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy, Coloboma ORPHA:97297
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Optic nerve hypoplasia, Abnormal pyramidal sign, Attenuation of ret... ORPHA:468631
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Pseudotrisomy 13 Syndrome
Hydrocephalus, Microphthalmia, Holoprosencephaly, Encephalocele OMIM:264480
Trisomy 18
Hypertonia, Abnormality of retinal pigmentation, Holoprosencephaly, Anencephaly, Microphthalmia, ... ORPHA:3380
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Cerebral palsy, Parkinsonism, Tremor ORPHA:1578
Duane-Radial Ray Syndrome
Retinal coloboma, Spina bifida occulta, Optic disc hypoplasia, Microphthalmia, Facial palsy, Agan... OMIM:607323
Kapur-Toriello Syndrome
Retinal coloboma, Microphthalmia OMIM:244300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Hydrocephalus, Microphthalmia, Encephalocele OMIM:613150