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 |
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Microphthalmia |
OMIM:248700 |
Pseudotrisomy 13 Syndrome |
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Hydrocephalus, Microphthalmia, Holoprosencephaly, Encephalocele |
OMIM:264480 |
Trisomy 18 |
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Hypertonia, Abnormality of retinal pigmentation, Holoprosencephaly, Anencephaly, Microphthalmia, ... |
ORPHA:3380 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Hypertonia, Oculogyric crisis, Cerebral palsy, Parkinsonism, Tremor |
ORPHA:1578 |
Duane-Radial Ray Syndrome |
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Retinal coloboma, Spina bifida occulta, Optic disc hypoplasia, Microphthalmia, Facial palsy, Agan... |
OMIM:607323 |
Kapur-Toriello Syndrome |
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Retinal coloboma, Microphthalmia |
OMIM:244300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Buphthalmos, Hydrocephalus, Microphthalmia, Encephalocele |
OMIM:613150 |