Not currently registered for phenotyping at IMPC

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

Gene Summary

ventral anterior homeobox 2

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, 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
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia, Ataxia OMIM:615771
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... 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, Gait ataxia, Slurred speech ORPHA:401953
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Peripheral axonal neuropathy, Babinski sign, Spasticity OMIM:611105
Cataract 11, Multiple Types
Chorea, Hypertonia, Microphthalmia OMIM:610623
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Congenital Disorder Of Glycosylation, Type Ii
Coloboma OMIM:607906
Tremor OMIM:231950
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Holoprosencephaly, Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Xeroderma Pigmentosum, Complementation Group G
Tremor, Microphthalmia, Ataxia, Spasticity OMIM:278780
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Coloboma OMIM:602499
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia ORPHA:1574
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus OMIM:611808
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Coloboma, Retinal detachment OMIM:615113
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Abnormal choroid morphology, Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Fasciculations, Tremor, Degeneration of anterior horn... ORPHA:65684
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Tremor, Babinski sign, Dysmetria OMIM:612437
Coloboma Of Macula
Macular coloboma OMIM:120300
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Op... OMIM:270500
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microphthalmia, Anophthalmia OMIM:616428
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Peripheral axonal neuropathy, Myoclonus, Babinski sign, Fasciculatio... OMIM:607317
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Spinocerebellar Ataxia 7
Tremor, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Chorea, Progressive... OMIM:164500
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Gombo Syndrome
Microphthalmia OMIM:233270
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Pigmentary retinopathy, Ataxia, Spasticity OMIM:614307
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma OMIM:120433
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Macular dystrophy, Ataxia, Abnormality of the optic nerve, Optic atrophy, Rig... ORPHA:33445
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Foveal Hypoplasia 2
Foveal hyperpigmentation, Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia OMIM:609218
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Resting tremor, Bradykinesia OMIM:616710
Mental Retardation Syndrome, Belgian Type
Coloboma OMIM:249599
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Behr Syndrome
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Optic atrophy OMIM:210000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Microphthalmia, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, H... OMIM:609260
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Babinski sign, Dy... OMIM:607458
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Facial Clefting, Oblique, 1
Coloboma OMIM:600251
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma OMIM:274270
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Microphthalmia, Hydrocephalus OMIM:614830
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Coloboma OMIM:610023
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma ORPHA:324416
Myopathy With Extrapyramidal Signs
Tremor, Abnormality of extrapyramidal motor function, Chorea, Ataxia, Peripheral axonal neuropath... OMIM:615673
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Parkinsonism, Upper motor neuro... ORPHA:216873
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Otodental Dysplasia
Coloboma OMIM:166750
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Ataxia, B... ORPHA:98762
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, Optic atrophy, Hydrocephalus ORPHA:1528
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Microphthalmia, Retinal detachment OMIM:212550
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Microphthalmia, ... OMIM:251270
Joubert Syndrome 16
Coloboma, Retinal dystrophy OMIM:614465
Joubert Syndrome 23
Coloboma OMIM:616490
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Peripheral vitreous opacities,... OMIM:305390
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Enhancement of the C-reflex, Giant somatosensory evoked potentials OMIM:601068
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Treacher Collins Syndrome 3
Coloboma OMIM:248390
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:615528
Treacher Collins Syndrome 2
Coloboma OMIM:613717
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia,... ORPHA:83461
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor OMIM:615048
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Retinal fold, Subretinal fluid, Microphthalmia ORPHA:209956
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Intention tremor, Frequent falls, Spastic dysarthria, ... ORPHA:314978
Dextrocardia With Unusual Facies And Microphthalmia
Choreoathetosis, Microphthalmia, Anophthalmia OMIM:221950
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Giant somatosensory evoked potentials, Myoclonus, Enhancement of the C-reflex OMIM:613608
Biemond Syndrome Type 2
Coloboma ORPHA:141333
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Microphthalmia, Retinal degeneration OMIM:267760
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Facial palsy, Myoclonus, Fasc... OMIM:159950
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements ORPHA:98807
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Myoclonus ORPHA:363710
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:600116
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Abnormal pyramidal sign, Ataxia, Microphthalmia, Dysmetria, Intention tr... ORPHA:48431
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Decreased nerve conduction velocity ORPHA:1368
Intellectual Developmental Disorder, X-Linked 104
Tremor, Optic atrophy, Ataxia, Spasticity OMIM:300983
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Spasticity OMIM:615924
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Fryns Microphthalmia Syndrome
Neural tube defect, Microphthalmia, Anophthalmia OMIM:600776
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Dysmetria OMIM:616127
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Axonal loss, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Microcephaly-Microcornea Syndrome, Seemanova Type
Progressive spasticity, Microphthalmia ORPHA:2528
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Optic atrophy OMIM:614947
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Iris coloboma, Coloboma ORPHA:921
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Abnormal autonomic nervous system physiology, Bradykinesia, Parkinso... ORPHA:329284
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia OMIM:218670
Microphthalmia, Syndromic 13
Coloboma OMIM:300915
Cofs Syndrome
Hypertonia, Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1466
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Abnormal autonomic ner... OMIM:300894
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Peripheral demyelination, Spastic ataxia, Chorea, Erratic myoclonus, Abnorma... ORPHA:397946
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus, Prolonged somatosensory evoked potentials OMIM:608105
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Spasticity OMIM:213200
Joubert Syndrome 22
Retinal dysplasia, Coloboma OMIM:615665
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Retinal coloboma, Microphthalmia, Hydrocephalus OMIM:601794
Leukodystrophy, Hypomyelinating, 6
Tremor, Rigidity, Ataxia, Optic atrophy, Choreoathetosis, Spasticity OMIM:612438
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Abnormal nerve conduction velocity, Ataxia, Optic atrophy ORPHA:99014
Norrie Disease
Hypoplasia of the iris, Retinal dysplasia, Microphthalmia, Retinal detachment, Optic atrophy, Ret... OMIM:310600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Peripheral axonal neuropathy, Dysmetria OMIM:618387
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Choreoathetosis, Myoclonus OMIM:261630
2Q24 Microdeletion Syndrome
Coloboma ORPHA:1617
Oculoauricular Syndrome
Macular hypoplasia, Rod-cone dystrophy, Coloboma OMIM:612109
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Peripheral axonal neuropathy OMIM:616668
Hypermanganesemia With Dystonia 2
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity OMIM:617013
Caribbean Parkinsonism
Apraxia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxia, Abnorma... ORPHA:97355
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Microphthalmia, Retinal detachment ORPHA:1473
Coach Syndrome 2
Chorioretinal coloboma, Coloboma OMIM:619111
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Ataxia, Myoclonus, Optic atrophy, Choreoathetosis ORPHA:391417
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Apraxia, Gait ataxia, Dysmetria, Optic atrophy, Spasticity OMIM:617810
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Spasticity ORPHA:521406
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Tremor, Ataxia ORPHA:101075
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Tremor, Abnormal sensory nerve conduction velocity ORPHA:276435
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Chorea, Resting tremor, Ataxia, Progressive extrapy... ORPHA:401768
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Decreased motor nerve conduction velocity, Hand tremor, Paraparesis, Decr... OMIM:302800
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Clumsiness, Eyelid myoclonus, Abnormal lower motor neuron morphology, Myoclonus, Frequent... ORPHA:2590
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Myoclonus, Dysmetria OMIM:619028
Mmep Syndrome
Microphthalmia ORPHA:3434
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Ataxia, Bradykinesia, D... OMIM:615157
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Choreoathetosis OMIM:261640
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Frequent falls, Spasticity OMIM:616719
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Chorea, Ataxia, Parkinsonism, Dysmetria, Babinski sign OMIM:618093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Retinal detachment OMIM:613153
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Epilepsy, Progressive Myoclonic, 6
Tremor, Myoclonus, Ataxia OMIM:614018
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Limb fasciculations, Abnormal peripheral action... ORPHA:90117
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Optic disc hypoplasia, Rod-cone dystrophy, Optic atrophy, Coloboma ORPHA:324737
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Hydrocephalus OMIM:615181
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Limb dysmetria, Chorea, Abnormal pyramidal sign, Bradykinesia, Parkin... OMIM:213600
Multiple System Atrophy
Postural tremor, Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bla... ORPHA:102
Autosomal Dominant Keratitis
Macular hypoplasia, Aniridia, Hypoplasia of the fovea, Coloboma ORPHA:2334
Warburg Micro Syndrome 1
Optic atrophy, Spastic diplegia, Microphthalmia OMIM:600118
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria OMIM:618090
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity OMIM:615010
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Limb ataxia, Oculomotor apraxia, Bradykinesia, Action tremor... OMIM:183090
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Gillespie Syndrome
Aniridia, Postural tremor, Slurred speech, Ataxia, Hypoplasia of the iris OMIM:206700
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Spastic hemiparesis, Slurred speech, Chorea, Abnormal pyramidal ... ORPHA:282166
Riboflavin Transporter Deficiency
Tremor, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Ataxia, ... ORPHA:97229
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Ataxia OMIM:612126
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Hand tremor, Vocal tremor ORPHA:420485
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Axonal degeneration, Limb ataxia, Oculomotor apraxia, Ataxia... OMIM:208920
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Ataxia, Bradykinesia OMIM:617836
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Oculomotor apraxia... OMIM:617145
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Myoclonus, Dysmetria, Myoclonic... ORPHA:79263
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Abnormal pyramidal sign, Optic nerve hypoplasia, Microphthalmia, Spasticity OMIM:614833
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Retinal dystrophy, Dysmetria, Rod-cone dystrophy OMIM:614867
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Oculomotor apraxia, Ataxia, Choreoathetosis, Spasticity OMIM:612716
Lopes-Maciel-Rodan Syndrome
Tremor, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Spasticity OMIM:617435
Leber Optic Atrophy
Postural tremor, Central retinal vessel vascular tortuosity, Ataxia, Optic neuropathy, Leber opti... OMIM:535000
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Morning glory anomaly, Microphth... OMIM:120200
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma OMIM:619318
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma OMIM:617306
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Rod-cone dystrophy, Microphthalmia ORPHA:363741
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Abnormal pyramidal sign, Myoclonus ORPHA:139485
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Clumsiness, Truncal ataxia, Spastic ataxia, Hypertonia, Poor fine motor coordination, Slu... ORPHA:137898
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Sensory axonal neuropathy, Hand tremor ORPHA:98764
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, A... OMIM:603472
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Hypertonia, Hemiballismus, Head titubation,... OMIM:618877
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Spasticity OMIM:257910
Cat-Eye Syndrome
Chorioretinal coloboma, Microphthalmia ORPHA:195
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia... ORPHA:289494
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Ataxia, Giant somatosensory evoked potentials, Myoclonus, Enhancement of t... OMIM:607876
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Hand apraxia, Tongue thrusting, Involuntary mo... ORPHA:3095
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microphthalmia, Hydrocephalus ORPHA:858
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Pontocerebellar Hypoplasia, Type 11
Coloboma OMIM:617695
Pierpont Syndrome
Abnormal peripheral nervous system morphology, Hypertonia, Microphthalmia OMIM:602342
Baraitser-Winter Syndrome 2
Coloboma OMIM:614583
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bla... ORPHA:98933
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia ORPHA:240085
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Peripheral axonal neuropathy, Myoclonus, Dysmetria, Inte... OMIM:616505
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Oculomotor apraxia, Dysmetria, Optic atrophy, Spasticity ORPHA:529665
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Chorea, Blepharospasm, Ataxia, Bradykinesia, Parkinsonism, Babinski sign... OMIM:606159
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma OMIM:601357
Primary Dystonia, Dyt2 Type
Involuntary movements, Tremor, Blepharospasm, Torticollis ORPHA:99657
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Para... OMIM:606693
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysmetria OMIM:614831
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Oculomotor apr... ORPHA:99750
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis OMIM:300055
Pelizaeus-Merzbacher Disease
Tremor, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ataxia, Optic... OMIM:312080
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Abnormality of retinal pigmentation, Hypertonia, Abnormal pyramidal s... ORPHA:96
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Babinski sign OMIM:616795
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Frontonasal Dysplasia 1
Coloboma OMIM:136760
Jaberi-Elahi Syndrome
Tremor, Gait ataxia, Dysmetria, Optic atrophy, Choreoathetosis, Spasticity OMIM:617988
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia OMIM:614219
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Progressive cerebellar ataxia,... ORPHA:98773
Verheij Syndrome
Coloboma OMIM:615583
X-Linked Dominant Chondrodysplasia Punctata
Optic atrophy, Microphthalmia ORPHA:35173
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Macular degeneration, Gait ataxia, Abnormal cranial nerve morphology, Abnorma... ORPHA:247234
Joubert Syndrome 14
Morning glory anomaly, Hydrocephalus, Microphthalmia, Ataxia OMIM:614424
Congenital Rubella Syndrome
Spastic diplegia, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Microphtha... ORPHA:290
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Parkinsonism, Hemiparesis, Bradykinesia ORPHA:306669
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Microphthalmia, Retinal detachme... ORPHA:2788
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal pyramidal sign, Optic nerve hypoplasia, Microphthalmia, Retinal detachment, Clonus, Opti... ORPHA:370959
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis OMIM:224500
X-Linked Dystonia-Parkinsonism
Frequent falls, Parkinsonism with favorable response to dopaminergic medication, Chorea, Blepharo... ORPHA:53351
Congenital Disorder Of Glycosylation, Type Iq
Coloboma OMIM:612379
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microphthalmia, Optic atrophy, Retinal detachment... OMIM:152950
Hartsfield Syndrome
Microphthalmia, Lobar holoprosencephaly ORPHA:2117
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Bilateral microphthalmos, Spasticity ORPHA:77299
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus OMIM:602501
Sneddon Syndrome
Hemiplegia, Tremor, Facial palsy OMIM:182410
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Microphthalmia OMIM:612530
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microphthalmia, Hydrocephalus ORPHA:85284
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, L... OMIM:218000
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis OMIM:233910
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Ataxia, Retinal degeneration, Limb hypertonia, Myoclonus, In... ORPHA:442835
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Retinal degeneration OMIM:615249
Pierpont Syndrome
Microphthalmia ORPHA:487825
Temtamy Syndrome
Chorioretinal coloboma, Microphthalmia ORPHA:1777
Tremor ORPHA:212
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Cogwheel rigidity, Gait ataxia, Chorea, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Parapa... OMIM:607483
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic parapares... ORPHA:206443
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Coloboma, Retinal dystrophy OMIM:610125
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma ORPHA:464288
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Limb ataxia, Bradykinesia, Parkinsonism, Myoclonus,... OMIM:137440
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Coloboma OMIM:616789
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Babinski sign, Tetraplegia, Spasticity OMIM:616586
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Sp... OMIM:618060
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Coloboma OMIM:618659
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Athetosis OMIM:617106
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Orthostatic hypotension due to autonomic dysfunction, Hemiparesis, Ataxia, Abnormal auton... OMIM:105210
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Cree Mental Retardation Syndrome
Coloboma OMIM:606851
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Solitary Median Maxillary Central Incisor
Coloboma, Cyclopia OMIM:147250
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoc... ORPHA:363400
Refsum Disease
Abnormality of retinal pigmentation, Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, Mic... ORPHA:773
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor, Eosinophilia ORPHA:99965
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, Microphthalmia, Ataxia ORPHA:1942
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Cervical spina bifida, Bilateral microphthalmos OMIM:600122
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Incoordination, Abnormal autonomic nervous system physiology, Parkinsonism OMIM:618049
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Spastic tetraplegia, Microphthalmia, Babinski sign, Op... OMIM:615663
Ritscher-Schinzel Syndrome 1
Coloboma OMIM:220210
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Neurooculocardiogenitourinary Syndrome
Coloboma OMIM:618652
Papillorenal Syndrome
Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, Macular hyperpigmentation, Microp... OMIM:120330
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Abnormal auditory evoked potentials, Upp... ORPHA:99027
Walker-Warburg Syndrome
Chorioretinal dysplasia, Retinal dystrophy, Abnormality of the optic nerve, Retinal dysplasia, Mi... ORPHA:899
Xeroderma Pigmentosum, Complementation Group B
Pigmentary retinopathy, Ataxia, Microphthalmia, Decreased nerve conduction velocity, Optic atrophy OMIM:610651
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypertonia, Lens coloboma, Microphthalmia, Stereotypy, Cerebral palsy OMIM:618914
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Babinski sign ORPHA:477673
Nance-Horan Syndrome
Microphthalmia, Retinal detachment ORPHA:627
Hypermanganesemia With Dystonia 1
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Cln5 Disease
Dysdiadochokinesis, Tremor, Abnormal central motor function, Clumsiness, Truncal ataxia, Ataxia, ... ORPHA:228360
Spondylo-Ocular Syndrome
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Blepharospasm, Torticollis OMIM:607671
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morphology, Ata... OMIM:614298
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal retinal vascular morphology, Anophthalmi... ORPHA:3378
Stevenson-Carey Syndrome
Coloboma OMIM:611961
Familial Multiple Lipomatosis
Coloboma, Chorioretinitis ORPHA:199276
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Bradykinesia, Limb hypertonia, Rigidity, Cerebral palsy ORPHA:70594
Warburg Micro Syndrome 3
Optic atrophy, Spastic tetraplegia, Microphthalmia, Ankle clonus OMIM:614222
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Tremor, Parkinsonism, Resting tremor ORPHA:3077
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Babinski sign, Abnormality of the optic nerve ORPHA:83629
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
Mohr-Tranebjaerg Syndrome
Tremor, Apraxia, Abnormal pyramidal sign, Ankle clonus, Absent brainstem auditory responses, Babi... ORPHA:52368
Anterior Segment Dysgenesis 2
Aniridia, Coloboma OMIM:610256
Moebius Syndrome
Dysdiadochokinesis, Clumsiness, Poor coordination, Microphthalmia, Facial diplegia OMIM:157900
Tremor, Gait ataxia, Abnormality of retinal pigmentation, Macular degeneration, Chorea, Limb atax... ORPHA:48818
Arrhinencephaly, Anencephaly, Microphthalmia, Anophthalmia, Hydrocephalus ORPHA:2189
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Coloboma ORPHA:329224
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma ORPHA:2399
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Microphthalmia ORPHA:1438
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia ORPHA:36387
Meckel Syndrome, Type 5
Microphthalmia, Anencephaly OMIM:611561
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Meckel Syndrome, Type 2
Meningocele, Microphthalmia, Anencephaly OMIM:603194
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Coach Syndrome 1
Coloboma, Optic disc pallor OMIM:216360
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Anophthalmia ORPHA:139471
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Joubert Syndrome 2
Chorioretinal coloboma, Oculomotor apraxia, Ataxia, Retinal dystrophy, Microphthalmia, Hydrocephalus OMIM:608091
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Microphthalmia, Hydrocephalus, Anophthalmia ORPHA:77298
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Hypertonia, Rigidity, Spasticity OMIM:176500
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Hydrocephalus OMIM:300863
Tremor, Autonomic bladder dysfunction, Hypertonia, Abnormal autonomic nervous system physiology, ... ORPHA:3299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus, Retinal dystrophy OMIM:616538
Warburg Micro Syndrome 2
Optic atrophy, Spastic diplegia, Microphthalmia OMIM:614225
Parkinson Disease, Late-Onset
Tremor, Resting tremor, Bradykinesia, Abnormal autonomic nervous system physiology, Parkinsonism,... OMIM:168600
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Non-Functioning Paraganglioma
Tremor, Cranial nerve compression, Vocal cord paralysis, Paraganglioma, Hypertensive retinopathy,... ORPHA:94080
Monosomy 18P
Holoprosencephaly, Microphthalmia ORPHA:1598
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Retinal dysplasia, Exaggerated startle response, Microphthalmia, Retinal detac... OMIM:253800
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Parkinsonism, Decreased nerve conduction velocity, Fasciculations, Frequent falls, Facial... ORPHA:329478
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Gait ataxia, Decreased motor nerve conduction velocity, Head tremor, Chorea, Progressive ... OMIM:606002
Curry-Jones Syndrome
Coloboma OMIM:601707
15Q24 Microdeletion Syndrome
Coloboma ORPHA:94065
Microphthalmia, Syndromic 3
Spastic diplegia, Spastic tetraplegia, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal pyramidal sign, Resting tremor, Abnormal autonomic nervous system physiology, Parkinsoni... OMIM:616840
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Abnormality of coordination, Hypertonia, Spastic tetraparesis, Ataxia... ORPHA:352649
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma OMIM:615877
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microphthalmia, Hydrocephalus ORPHA:3301
Micro Syndrome
Abnormality of retinal pigmentation, Retinal coloboma, Microphthalmia, Optic atrophy, Spasticity ORPHA:2510
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus, Microphthalmia, Ocular albinism ORPHA:1352
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Optic atrophy, Microphthalmia ORPHA:494344
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypopigmentation of the fundus, Microphthalmia, Retinal detachment ORPHA:163649
Wolfram Syndrome 1
Neurogenic bladder, Tremor, Pigmentary retinopathy, Ataxia, Optic atrophy OMIM:222300
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Pigmentary retinopathy, Abnormality of extra... OMIM:234200
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, Tremor, Pigmentary retinopathy, Progressive cerebellar ataxia, Dysmetria, Abn... ORPHA:502423
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Hypertonia, Blepharospasm, Torticollis OMIM:128100
Meckel Syndrome, Type 4
Meningocele, Hydrocephalus, Microphthalmia, Anencephaly OMIM:611134
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Microphthalmia, Ataxia, Spasticity OMIM:278730
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormal pyramidal sign,... ORPHA:240071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal atrophy, Coloboma, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Optic a... OMIM:236670
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Retinal detachment OMIM:615145
Branchio-Oculo-Facial Syndrome
Iris coloboma, Coloboma ORPHA:1297
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Hydrocephalus ORPHA:163966
Acro-Renal-Ocular Syndrome
Chorioretinal coloboma, Coloboma, Optic disc coloboma, Optic disc hypoplasia, Iris coloboma, Agan... ORPHA:959
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Dysmetria, Truncal titubation OMIM:618056
Incontinentia Pigmenti
Retinal hemorrhage, Microphthalmia, Retinal detachment, Hypoplasia of the fovea, Optic atrophy, R... OMIM:308300
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma OMIM:163200
Otodental Syndrome
Retinal coloboma, Microphthalmia, Lens coloboma ORPHA:2791
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Microphthalmia OMIM:243310
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microphthalmia OMIM:234050
Phace Association
Optic nerve hypoplasia, Microphthalmia, Increased retinal vascularity, Optic atrophy, Horner synd... OMIM:606519
3P25.3 Microdeletion Syndrome
Stereotypy, Microphthalmia, Ataxia ORPHA:435638
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Tay-Sachs Disease
Tremor, Incoordination, Clumsiness, Poor fine motor coordination, Ankle clonus, Exaggerated start... ORPHA:845
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Abnormality of the optic nerve, Microphthalmi... ORPHA:3412
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia, Retinal dystrophy ORPHA:713
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Optic nerve hypoplasia, Microphthalmi... OMIM:614643
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:615530
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Seckel Syndrome 2
Microphthalmia OMIM:606744
Congenital Fibrinogen Deficiency
Opisthotonus, Microphthalmia ORPHA:335
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Glutaryl-Coa Dehydrogenase Deficiency
Tremor, Poor motor coordination, Chorea, Ataxia, Retinal hemorrhage, Athetosis, Rigidity, Communi... ORPHA:25
Multiple System Atrophy 1, Susceptibility To
Tremor, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ataxia, Bradykines... OMIM:146500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Coloboma ORPHA:251028
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Remnants of the hyaloid vascular system, Retinal nonattachment, Microphthalmia, Reti... OMIM:221900
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Hydrocephalus OMIM:602361
Curry-Jones Syndrome
Optic disc coloboma, Microphthalmia ORPHA:1553
Jacobsen Syndrome
Chorioretinal coloboma, Holoprosencephaly, Macular hypoplasia, Microphthalmia, Optic atrophy, Hyd... OMIM:147791
Adams-Oliver Syndrome
Hypertonia, Hemiparesis, Microphthalmia, Hydrocephalus ORPHA:974
Kapur-Toriello Syndrome
Retinal coloboma, Microphthalmia ORPHA:2328
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Cerebrooculofacioskeletal Syndrome 4
Hypertonia, Bilateral microphthalmos OMIM:610758
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Hypertonia, Retinal dystrophy, Abno... ORPHA:2526
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Tremor, Truncal ataxia, Pigmentary retinopathy, Limb ataxia, Ataxia, Dysmetria OMIM:617675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Retinal atrophy, Retinal degeneration, Retinal dysplasia, Myoclonus, Microphthalmia,... OMIM:253280
Fanconi Anemia, Complementation Group L
Microphthalmia, Hydrocephalus OMIM:614083
Joubert Syndrome With Ocular Defect
Tremor, Retinal coloboma, Oculomotor apraxia, Aganglionic megacolon, Ataxia, Retinal dystrophy, H... ORPHA:220493
Aicardi Syndrome
Chorioretinal coloboma, Abnormality of retinal pigmentation, Optic disc coloboma, Hypertonia, Hem... ORPHA:50
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Coloboma, Retinal coloboma, Iris coloboma, Facial palsy, Optic nerve hypoplasia, Abnormality of t... ORPHA:508498
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Rodrigues Blindness
Microphthalmia OMIM:268320
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Spasticity ORPHA:2714
Cockayne Syndrome B
Peripheral dysmyelination, Tremor, Pigmentary retinopathy, Normal pressure hydrocephalus, Ataxia,... OMIM:133540
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Decreased nerve conduction velocity ORPHA:397744
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Cranial nerve compression, Vocal... ORPHA:276621
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Japanese Encephalitis
Pill-rolling tremor, Tremor, Cogwheel rigidity, Decreased motor nerve conduction velocity, Abnorm... ORPHA:79139
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Cockayne Syndrome
Neurogenic bladder, Abnormality of retinal pigmentation, Retinal atrophy, Pigmentary retinopathy,... ORPHA:191
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Bilateral microphthalmos, Ataxia, Spastic paraparesis ORPHA:369891
Acrocallosal Syndrome
Hypopigmentation of the fundus, Optic atrophy, Coloboma OMIM:200990
Multiple Benign Circumferential Skin Creases On Limbs
Retinopathy, Microphthalmia ORPHA:2505
Hallermann-Streiff Syndrome
Chorioretinal coloboma, Spina bifida, Choreoathetosis, Microphthalmia OMIM:234100
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Tremor, Retinal capillary hemangioma, Extraadrenal pheochromocytoma, Adrenal pheochromo... ORPHA:29072
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Clumsiness, Progressive extrapyramidal movement disorder, Parkinsonism wi... ORPHA:199351
Galloway-Mowat Syndrome 1
Ataxia, Hypoplasia of the iris, Spastic tetraplegia, Microphthalmia, Optic atrophy, Spasticity OMIM:251300
Chorioretinal coloboma, Chorea, Holoprosencephaly, Spinal dysraphism, Microphthalmia, Anophthalmi... ORPHA:2162
Serotonin Syndrome
Tremor, Hypertonia, Myoclonus, Clonus, Abnormality of the autonomic nervous system, Rigidity ORPHA:43116
Ritscher-Schinzel Syndrome 3
Chorioretinal coloboma, Microphthalmia OMIM:619135
Martsolf Syndrome 1
Spastic diplegia, Microphthalmia OMIM:212720
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Coloboma ORPHA:453499
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy, Coloboma ORPHA:97297
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Oculofaciocardiodental Syndrome
Microphthalmia, Retinal detachment ORPHA:2712
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:613001
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tremor, Diaphragmatic paralysis, Abnormality of retinal pigmentation, Abnormality of peripheral s... ORPHA:466768
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Hemiplegia/hemiparesis, Retinal hemorrhage, Microphthalmia, Sp... ORPHA:464
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
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
Steinfeld Syndrome
Retinal coloboma, Holoprosencephaly, Microphthalmia OMIM:184705
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:612199
Oculodentodigital Dysplasia
Neurogenic bladder, Paraparesis, Tetraparesis, Ataxia, Microphthalmia, Spasticity OMIM:164200
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia, Hydrocephalus, Retinal vascular tortuosity OMIM:243605
Pelvis-Shoulder Dysplasia
Spina bifida, Retinal coloboma, Bilateral microphthalmos, Hydranencephaly, Hydrocephalus ORPHA:2839
Cat Eye Syndrome
Chorioretinal coloboma, Microphthalmia OMIM:115470
Cockayne Syndrome Type 3
Neurogenic bladder, Retinal atrophy, Retinal degeneration, Retinal dystrophy, Peripheral axonal n... ORPHA:90324
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemiplegia, Tetraparesis, Hemiparesis, Facial paralysis, Hypoplasia of the iris, Hypopigmentation... OMIM:175780
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Attenuation of retinal blood vessels, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements... ORPHA:468631
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Trisomy 18
Spina bifida, Abnormality of retinal pigmentation, Holoprosencephaly, Hypertonia, Anencephaly, Mi... ORPHA:3380
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Retinal coloboma, Aganglionic megacolon, Facial palsy, Microphthalmia, Spi... OMIM:607323
Meckel Syndrome
Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the iris, Anencephaly, Microphthalmia, L...