Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration, Seizure |
OMIM:613068 |
Heterochromia Iridis |
|
Asymmetry of iris pigmentation, Heterochromia iridis |
OMIM:142500 |
Diaminopentanuria |
|
Ataxia, Neurodegeneration, Spasticity, Seizure |
OMIM:222350 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Iridocorneal Endothelial Syndrome |
|
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Huntington Disease |
|
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia, Ce... |
OMIM:143100 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia |
OMIM:615889 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Cerebral atrophy, Myoclonus, Increased neuronal autofluorescent lipopigment, Cerebellar a... |
OMIM:600143 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Cerebral atrophy, Generalized myoclonic seizure, Neurodegeneration, Cerebellar atrophy |
OMIM:610951 |
Progressive Multifocal Leukoencephalopathy |
|
Hemiplegia/hemiparesis, Dysmetria, Parkinsonism, Weakness due to upper motor neuron dysfunction, ... |
ORPHA:217260 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral tonic-clonic seizure, Increased neu... |
OMIM:162350 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Rigid... |
OMIM:617672 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Ataxia, Inability to walk, Cerebellar vermis atrophy, Intention tremor, Abnorma... |
OMIM:312080 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Anterior Segment Dysgenesis 3 |
|
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... |
OMIM:601631 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Rigidity, Parkinsonism, Neurodegeneration, T... |
OMIM:300894 |
Developmental And Epileptic Encephalopathy 14 |
|
Status epilepticus, Neuronal loss in central nervous system, Cerebral cortical atrophy, Gliosis, ... |
OMIM:614959 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Neuronal loss in central nervous system, Bradykinesia, Gliosis, Dysmetr... |
OMIM:607136 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Parkinsonism, Corpus ca... |
OMIM:221820 |
Dravet Syndrome |
|
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Cerebral atrophy, Focal imp... |
OMIM:607208 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... |
OMIM:612319 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Gliosis, Cerebral atrophy, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:618369 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Cerebral atrophy, Myoclonus, Increased extraneuronal autofluorescent lipopigment, Increas... |
OMIM:204500 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure |
OMIM:616187 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Cerebral atrophy, Myoclonus, Bilateral tonic-clonic seizure, Increased neuronal autofluor... |
OMIM:204300 |
Spinocerebellar Ataxia 23 |
|
Neuronal loss in central nervous system, Dysmetria, Impaired vibration sensation in the lower lim... |
OMIM:610245 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Distal sensory imp... |
OMIM:604218 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Spastic paraparesis, Dysmetria, Axonal degeneration, Dysd... |
OMIM:615157 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus, Cerebellar atrophy, Increased neuro... |
OMIM:256731 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
Iris Hypoplasia With Glaucoma |
|
Hypoplasia of the iris, Iris atrophy |
OMIM:308500 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Senile plaques, Seizure, Neurofibrillary tangles |
OMIM:605055 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Gliosis, Limb ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordi... |
OMIM:213200 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber |
OMIM:618880 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... |
OMIM:604484 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegeneration, Gait disturbance, S... |
OMIM:615643 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Alzheimer Disease 3 |
|
Cerebral cortical atrophy, Myoclonus, Babinski sign, Neurofibrillary tangles, Apraxia, Gait distu... |
OMIM:607822 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... |
OMIM:617831 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... |
OMIM:615491 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Neuronal loss in central nervous system, Ataxia, Gliosis, Cerebral atrophy, Abnormal pyramidal si... |
OMIM:256600 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea |
OMIM:610202 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... |
OMIM:221900 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Iridodonesis, Ectopia lentis |
OMIM:613195 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... |
ORPHA:69736 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypertonia, Neuronal loss in central nervous system, Gliosis, Multifocal seizures, Generalized my... |
OMIM:614498 |
Alzheimer Disease 9, Susceptibility To |
|
Senile plaques, Cerebral cortical atrophy, Hippocampal atrophy, Neurofibrillary tangles, Abnormal... |
OMIM:608907 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Abnormal p... |
ORPHA:204 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hypertonia, Bradykinesia, Cerebral atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Babi... |
OMIM:610217 |
Aniridia 2 |
|
Iris coloboma, Lens subluxation, Cataract, Aniridia |
OMIM:617141 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis, Paralysis, Athetosis |
OMIM:300857 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cer... |
OMIM:105550 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cerebral cortical atrophy, Gli... |
ORPHA:157941 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Foca... |
OMIM:117360 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Cerebral palsy, Babinski sign, Spastic paraplegia, Spastic tetraplegia, Cerebellar atrop... |
OMIM:612936 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Gait ataxia, Neurodegeneration, Cerebellar atrophy |
ORPHA:438134 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Neurofibrillary tan... |
OMIM:137440 |
Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... |
OMIM:615871 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Hypertonia, Ataxia, Cerebral cortical atrophy, Myoclonus, Parkinsonism, Neurofibrillary tangles, ... |
ORPHA:1020 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Gliosis, Cerebral atrophy, Myoclonus, Atrophy/Degeneration affecting the brainstem, Diffuse cereb... |
OMIM:614946 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Status epilepticus, Neuronal loss in central nervous system, Gliosis, Neurodegeneration, Spastici... |
OMIM:616239 |
L-2-Hydroxyglutaric Aciduria |
|
Gliosis, Abnormal pyramidal sign, Corpus callosum atrophy, Global brain atrophy, Cerebellar atrop... |
OMIM:236792 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... |
OMIM:602482 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Senile plaques, Neurofibrillary tangles |
DECIPHER:48 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Neuronal loss in central nervous system, Blepharospasm, Cerebellar Purkinje ... |
ORPHA:98759 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Status epilepticus, Gliosis, Myoclonic seizure, Abnormal astrocyte morphology, Spasticity, Cerebe... |
ORPHA:168486 |
Hemimegalencephaly |
|
Status epilepticus, Focal motor seizure, Gliosis, Atonic seizure, Myoclonus, Hemiparesis, Epilept... |
ORPHA:99802 |
Idiopathic Anterior Uveitis |
|
Posterior synechiae of the anterior chamber, Nuclear cataract, Posterior subcapsular cataract |
ORPHA:280914 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Gliosis, Parkinsonism, Neurof... |
OMIM:607485 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Gm2-Gangliosidosis, Ab Variant |
|
Hypertonia, Exaggerated startle response, Cerebral atrophy, Abnormal pyramidal sign, Neurodegener... |
OMIM:272750 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Oculoauricular Syndrome |
|
Microphakia, Chorioretinal atrophy, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, ... |
OMIM:612109 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Chorea, Neurodegenera... |
OMIM:606159 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Gliosis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to... |
ORPHA:275872 |
Phacoanaphylactic Uveitis |
|
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... |
ORPHA:209959 |
Pick Disease Of Brain |
|
Motor stereotypy, Neuronal loss in central nervous system, Gliosis |
OMIM:172700 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis, Hemiparesis, Seizure |
OMIM:613002 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Cerebral atrophy, Abnormal pyramidal sign, Neurodegeneration, Progr... |
ORPHA:309246 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypertonia, Gliosis, Myoclonus, Spasticity, Seizure |
OMIM:225753 |
Adrenoleukodystrophy |
|
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Neurodegenerati... |
OMIM:300100 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, Cerebral atrophy, Myoclonus, Babinski sign, Gait disturbance, Spasticity, Seizure, Aprax... |
OMIM:221770 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Neurodegeneration, Spasticity, Spastic tetraplegia, Seizure, Agenesis of corpus... |
OMIM:618476 |
Krabbe Disease |
|
Hypertonia, Decerebrate rigidity, Neurodegeneration, Progressive spasticity, Diffuse cerebral atr... |
OMIM:245200 |
Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Senile plaques, Akinesia, Neuronal loss in central nervous system, Bradykinesia, ... |
OMIM:601104 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy, Neurofibrillary tangles |
OMIM:619132 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Alzheimer Disease 4 |
|
Apraxia, Senile plaques, Cerebral amyloid angiopathy, Neurofibrillary tangles |
OMIM:606889 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Neuronal loss in central nervous system, Gliosis, Dysmetria, Intention tremor, Unilateral vocal c... |
OMIM:301790 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia, Cerebral cortical atrophy, Resting tremor, Abnormal pyramidal sign, Rigidity, Parkinson... |
OMIM:616840 |
Machado-Joseph Disease |
|
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sen... |
OMIM:109150 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea |
ORPHA:3214 |
Idiopathic Panuveitis |
|
Posterior synechiae of the anterior chamber, Cataract, Choroidal neovascularization, Conjunctival... |
ORPHA:280921 |
Hsd10 Disease, Infantile Type |
|
Loss of ambulation, Cerebral atrophy, Poor coordination, Spastic diplegia, Hyperkinetic movements... |
ORPHA:391428 |
Supranuclear Palsy, Progressive, 2 |
|
Gait imbalance, Akinesia, Neuronal loss in central nervous system, Bradykinesia, Gliosis, Retroco... |
OMIM:609454 |
Adult-Onset Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... |
ORPHA:199351 |
Intermediate Uveitis |
|
Posterior synechiae of the anterior chamber, Band keratopathy, Cataract, Anterior uveitis |
ORPHA:279914 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Gliosis, Brain atrophy, Neurodegeneration, Diffuse cerebral atrophy, Cerebellar atrophy, Seizure,... |
OMIM:214150 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Hypertonia, Gliosis, Cerebral atrophy, Spasticity, Cerebellar atrophy |
OMIM:615095 |
Niemann-Pick Disease, Type C1 |
|
Neuronal loss in central nervous system, Ataxia, Cataplexy, Neurofibrillary tangles, Gait ataxia,... |
OMIM:257220 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic ... |
ORPHA:478029 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Gliosis, Cerebral atrophy, Myoclonus, Infantile spasms, Neurodegeneration, Chorea, Gait a... |
OMIM:618321 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Status epilepticus, Hypertonia, Gliosis, Cerebral atrophy, Opisthotonus, Cerebral palsy, Babinski... |
OMIM:619847 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Hypertonia, Gliosis, Spastic tetraplegia, Seizure, Tetraplegia |
OMIM:608033 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Posterior lenticonus, Microcornea, Chorioretinal coloboma |
ORPHA:231736 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Gliosis, Inability to walk, Cerebral atrophy, Cerebellar gliosis, Basal ganglia gliosis, ... |
ORPHA:79243 |
2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Distal Monosomy 6P |
|
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... |
ORPHA:96125 |
Leukoencephalopathy With Vanishing White Matter |
|
Gliosis, Gait disturbance, Spasticity, Unsteady gait, Seizure |
OMIM:603896 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Ataxia, Inability to walk, Cataplexy, Neuronal loss in central nervous system, Gliosis, Generaliz... |
OMIM:617193 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Status epilepticus, Hypertonia, Ataxia, Neuronal loss in central nervous system, Gliosis, Myoclon... |
OMIM:203700 |
Progressive Supranuclear Palsy |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Blepharospasm, Bradykinesia, ... |
ORPHA:683 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Spherophakia, Shallow anterior chamber, Spontaneous conjunctival filtering bleb, Cataract, Anteri... |
OMIM:601552 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Intention tremor, Neurofibrillary tangles, Spasticity, Cerebral amyloid angiopathy |
OMIM:117300 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Neurodegenerati... |
OMIM:614298 |
Pontocerebellar Hypoplasia, Type 2A |
|
Cerebral cortical atrophy, Gliosis, Opisthotonus, Extrapyramidal dyskinesia, Chorea, Seizure |
OMIM:277470 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Blepharospasm, Bradykinesia, Babinski sign, Abnormal pyramidal sign, Parkinsoni... |
OMIM:234200 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Neurodegeneration, Paralysis, Spasticity, Motor neuron atrophy |
ORPHA:803 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Broad-based gait, Hypertonia, Babinski sign, Neurodegeneration, Gait disturbance, Difficulty walk... |
ORPHA:79244 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Ataxia, Neurodegeneration, Unsteady gait, Cerebellar atrophy |
OMIM:615919 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Gliosis, Hyperkinetic movements, Gait disturbance, Tremor, Bilateral tonic-clon... |
ORPHA:457240 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Gliosis, Pseudobulbar paralysis, Babinski sign, Corpus callosum atrophy, Spasticity |
OMIM:169500 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Cerebral atrophy, Poor coordination, Spastic diplegia, Neurodegeneration, Gait disturbanc... |
OMIM:616878 |
Tay-Sachs Disease |
|
Typical absence seizure, Inability to walk, Clumsiness, Exaggerated startle response, Dysmetria, ... |
ORPHA:845 |
Cerebral Visual Impairment |
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Clumsiness, Cerebral palsy, Neurodegeneration, Seizure, Oculomotor apraxia, Central nervous syste... |
ORPHA:447788 |
X-Linked Recessive Ocular Albinism |
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Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism |
ORPHA:54 |
Primary Non-Essential Cutis Verticis Gyrata |
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Gliosis, Seizure |
ORPHA:357225 |
Alzheimer Disease 2 |
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Parkinsonism, Neurofibrillary tangles |
OMIM:104310 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Gliosis, Head titubation, Diffuse cerebral atrophy, Spastic tetraplegia, Seizure |
ORPHA:3240 |
Alzheimer Disease, Familial, 1 |
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Parkinsonism, Neurofibrillary tangles |
OMIM:104300 |
Lissencephaly, X-Linked, 2 |
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Gliosis, Agenesis of corpus callosum, Spasticity, Seizure |
OMIM:300215 |
Intellectual Developmental Disorder, X-Linked 12 |
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Gliosis, Hyperkinetic movements, Gait disturbance, Tremor, Spasticity, Seizure |
OMIM:300957 |
Multiple System Atrophy 1, Susceptibility To |
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Ataxia, Bradykinesia, Babinski sign, Rigidity, Parkinsonism, Neurodegeneration, Tremor |
OMIM:146500 |
Familial Acute Necrotizing Encephalopathy |
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Hypertonia, Gliosis, Rigidity, Gait disturbance, Spasticity, Spastic tetraplegia, Seizure |
ORPHA:88619 |
Leigh Syndrome |
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Ataxia, Gliosis, Spasticity, Seizure |
OMIM:256000 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Posterior synechiae of the anterior chamber, Chorioretinal atrophy, Abnormal corneal endothelium ... |
ORPHA:364055 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Tremor, Ataxia, Gliosis, Seizure |
OMIM:220111 |
Woolly Hair |
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Abnormal pupil morphology, Cataract |
ORPHA:170 |
Parkinson Disease 1, Autosomal Dominant |
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Gliosis, Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Gait disturbance, Shuff... |
OMIM:168601 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Anisocoria |
OMIM:300858 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Ataxia, Inability to walk, Gliosis, Titubation, Difficulty walking, Lower limb spasticity, Dyston... |
ORPHA:280210 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Panuveitis, Iris nevus, Anterior chamber flare, Anterior uveitis, Posterior uveitis, Chorioretina... |
ORPHA:91500 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
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Degeneration of anterior horn cells, Gliosis, Parkinsonism, Trophic limb changes |
OMIM:118301 |
Norrie Disease |
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Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... |
OMIM:310600 |
Hereditary Late-Onset Parkinson Disease |
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Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cerebral... |
ORPHA:411602 |
Niemann-Pick Disease, Type C2 |
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Motor stereotypy, Ataxia, Cataplexy, Neurofibrillary tangles, Spasticity, Seizure |
OMIM:607625 |
Aortic Aneurysm, Familial Thoracic 6 |
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Iris flocculi |
OMIM:611788 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Status epilepticus, Ataxia, Cerebral cortical atrophy, Gliosis, Myoclonus, Babinski sign, Truncal... |
OMIM:301072 |
Chediak-Higashi Syndrome |
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Ataxia, Neurodegeneration, Gait disturbance, Tremor, Seizure |
OMIM:214500 |
Aniridia 1 |
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Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Chorioretinal ... |
OMIM:106210 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Hypertonia, Gliosis, Cerebral atrophy, Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Seizure |
OMIM:252160 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
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Abnormal pupil morphology |
ORPHA:2151 |
Late-Onset Retinal Degeneration |
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Abnormal suspensory ligament of lens morphology, Chorioretinal atrophy, Abnormal anterior eye seg... |
ORPHA:67042 |
Hec Syndrome |
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Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Axenfeld-Rieger Syndrome, Type 1 |
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Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... |
OMIM:180500 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
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Gliosis, Ankle clonus, Falls, Difficulty walking, Seizure |
OMIM:618222 |
Triopia |
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Iris coloboma, Abnormal pupil morphology, Microcornea |
ORPHA:3374 |
Mucopolysaccharidosis, Type Ii |
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Neurodegeneration, Seizure |
OMIM:309900 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Isometric tremor, Ataxia, Infantile spasms, Falls, Tics, Spasticity, Broad-based gait, Hypertonia... |
OMIM:619475 |
Cerebrotendinous Xanthomatosis |
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Paraparesis, Ataxia, Gliosis, Spastic paraparesis, Resting tremor, Axonal degeneration, Babinski ... |
ORPHA:909 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Megalocornea, Cataract, Abnormality iris morphology |
ORPHA:370959 |
Juvenile Glaucoma |
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Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
1Q41Q42 Microdeletion Syndrome |
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Abnormality iris morphology |
ORPHA:250999 |
Mucopolysaccharidosis, Type Vii |
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Neurodegeneration |
OMIM:253220 |
Nijmegen Breakage Syndrome |
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Glioma, Neurodegeneration |
OMIM:251260 |
Hurler Syndrome |
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Neurodegeneration |
OMIM:607014 |
Pierson Syndrome |
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Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of the iris, Hypoplas... |
OMIM:609049 |
Oculodentodigital Dysplasia |
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Cataract, Microcornea, Abnormality iris morphology |
ORPHA:2710 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Abnormality iris morphology |
ORPHA:91387 |
Primrose Syndrome |
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Motor stereotypy, Ataxia, Neurodegeneration, Tics, Seizure |
OMIM:259050 |