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