Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration, Seizure |
OMIM:613068 |
Diaminopentanuria |
|
Spasticity, Neurodegeneration, Seizure, Ataxia |
OMIM:222350 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
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 |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Huntington Disease |
|
Gait ataxia, Chorea, Seizure, Rigidity, Neuronal loss in central nervous system, Gliosis, Cerebel... |
OMIM:143100 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Developmental And Epileptic Encephalopathy 14 |
|
Spasticity, Cerebral cortical atrophy, Tetraplegia, Focal motor seizure, Generalized tonic seizur... |
OMIM:614959 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Progressive Multifocal Leukoencephalopathy |
|
Gait ataxia, Somatic sensory dysfunction, Paresthesia, Seizure, Parkinsonism, Hemiplegia/hemipare... |
ORPHA:217260 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Generalized myoclonic seizure, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration |
OMIM:610951 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus... |
OMIM:162350 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Seizure, Myoclonus, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Cer... |
OMIM:600143 |
Spinocerebellar Ataxia 41 |
|
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:616410 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Pelizaeus-Merzbacher Disease |
|
Global brain atrophy, Cerebellar vermis atrophy, Abnormal pyramidal sign, Seizure, Inability to w... |
OMIM:312080 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... |
OMIM:607208 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Global brain atrophy, Somatic sensory dysfunction, Spasticity, Shuffling gait, Seizure, Parkinson... |
OMIM:221820 |
Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Diffuse ce... |
OMIM:607136 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Cerebral cortical atrophy, Seizure, Focal-onset seizure, Abnormality of extrapyramid... |
OMIM:615362 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ankle clonus, Seizure, Dysdiadochokinesis, Ataxia, Babinski sign, Spastic paraplegia, Spastic tet... |
OMIM:612319 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... |
OMIM:204300 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Chorea, Spasticity, Cerebral cortical atrophy, Abnormal pyramidal sign, Seizure, Inability to wal... |
OMIM:617672 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Lateral ventricle dilatation, Apraxia, Hand tremor, Ataxia, Babinski sign, Cerebellar... |
OMIM:615889 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Neuronal loss in central nervou... |
OMIM:604218 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Spinocerebellar Ataxia 23 |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Neurona... |
OMIM:610245 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebral cortical atrophy, Seizure, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria,... |
OMIM:256731 |
Myoclonic Epilepsy, Familial Infantile |
|
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... |
OMIM:605021 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Senile plaques, Seizure, Neurofibrillary tangles |
OMIM:605055 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy |
OMIM:616291 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Limb ataxia, Incoordination, Ataxia, Dysmetri... |
OMIM:213200 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber |
OMIM:618880 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Alzheimer Disease 3 |
|
Cerebral cortical atrophy, Seizure, Apraxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:607822 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gait ataxia, Spasticity, Cerebral cortical atrophy, Spastic ataxia, Gait imbalance, Torticollis, ... |
OMIM:618369 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Impaired vibration sensation at ankles, Ankle clonus, Postural tremor, Ataxia, Spa... |
OMIM:615491 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Cerebral cortical atrophy, Dysdiadochokinesis, Resting tremor, Apraxia... |
OMIM:615157 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Neurodegenera... |
OMIM:615643 |
Alzheimer Disease 9, Susceptibility To |
|
Cerebral cortical atrophy, Abnormality of extrapyramidal motor function, Hippocampal atrophy, Neu... |
OMIM:608907 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... |
ORPHA:69736 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance, Hand tremor, Gliosis,... |
OMIM:604484 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormal pyramidal sign, Seizure, Spastic tetraplegia, Ataxia, Neuronal loss in central nervous s... |
OMIM:256600 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... |
OMIM:221900 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp... |
ORPHA:204 |
L-2-Hydroxyglutaric Aciduria |
|
Global brain atrophy, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor funct... |
OMIM:236792 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Spasticity, Seizure, Dysdiadochokinesis, Babinski sign, Dysmetria, Cerebral ... |
OMIM:610217 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Neuronal loss in central nervous s... |
OMIM:105550 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis, Amyotrophic lateral sclerosis, Gliosis |
OMIM:300857 |
Aniridia 2 |
|
Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... |
OMIM:137440 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Seizure, Akinesia, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Cerebral atrophy, Cerebel... |
OMIM:300894 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
Huntington Disease-Like 1 |
|
Poor fine motor coordination, Gait ataxia, Chorea, Cerebral cortical atrophy, Seizure, Clumsiness... |
ORPHA:157941 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Cerebral cortical atrophy, Seizure, Parkinsonism, Apraxia, Oculomotor apraxia, Myoclonus, Ataxia,... |
ORPHA:1020 |
Spinocerebellar Ataxia Type 17 |
|
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Torticollis, ... |
ORPHA:98759 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Senile plaques, Neurofibrillary tangles |
DECIPHER:48 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Seizure, Lateral ventricle dilatation, Apraxia, Myoclonus, Gait disturbance, Babinski... |
OMIM:221770 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... |
OMIM:602482 |
Hemimegalencephaly |
|
Seizure, Focal motor seizure, Hemiparesis, Myoclonus, Focal tonic seizure, Status epilepticus, At... |
ORPHA:99802 |
Idiopathic Anterior Uveitis |
|
Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nuclear cataract |
ORPHA:280914 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Parkinsonism, Apraxia, Neuronal loss in ... |
OMIM:607485 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Myoclonic seizure, Exaggerated startle response, Abnormal pyramidal sign, Seizure, Paraly... |
OMIM:272750 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Spasticity, Seizure, Status epilepticus, Gliosis, Cerebellar atrophy, Abnormal... |
ORPHA:168486 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Limb hypertonia, Multifocal seizures, Myoclonic spasms, Rigidity, Focal-onset seizure, Generalize... |
OMIM:614498 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Babinski sign... |
OMIM:606159 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Spasticity, Seizure, Status epilepticus, Neuronal loss in central nervous system, Gliosis, Cerebe... |
OMIM:616239 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Fasciculations, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor ... |
ORPHA:275872 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Seizure, Myoclonus, Gliosis, Hypertonia |
OMIM:225753 |
Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Seizure, Progressive spastic quadr... |
ORPHA:309246 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Seizure, Truncal ataxia, Paraparesis, Limb ataxia, Incoor... |
OMIM:300100 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Seizure, Gliosis |
OMIM:613002 |
Phacoanaphylactic Uveitis |
|
Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham... |
ORPHA:209959 |
Krabbe Disease |
|
Seizure, Progressive spasticity, Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decereb... |
OMIM:245200 |
Supranuclear Palsy, Progressive, 1 |
|
Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Parkinsonism, Rigidit... |
OMIM:601104 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Seizure, Limb hypertonia, Spastic tetraplegia, Cerebral palsy, Ataxia, Babinski sign, Gliosis, Ce... |
OMIM:612936 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Spasticity, Gliosis, Cerebral atrophy, Hypertonia, Cerebellar atrophy, Agenesis of corpus callosum |
OMIM:615095 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Seizure, Lateral ventr... |
OMIM:619847 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Cerebral cortical atrophy, Abnormal pyramidal sign, Akinesia, Parkinsonism, Rigidity,... |
OMIM:616840 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Global brain atrophy, Amyotrophic lateral sclerosis, Neurofibrillary tangles |
OMIM:619132 |
Alzheimer Disease 4 |
|
Cerebral amyloid angiopathy, Senile plaques, Apraxia, Neurofibrillary tangles |
OMIM:606889 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Seizure, Lateral ventricle dilatation, Inability to walk, Cerebellar glios... |
ORPHA:79243 |
Machado-Joseph Disease |
|
Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Abnormality of extrapyramidal motor function,... |
OMIM:109150 |
Idiopathic Panuveitis |
|
Posterior synechiae of the anterior chamber, Cataract, Choroidal neovascularization, Conjunctival... |
ORPHA:280921 |
Supranuclear Palsy, Progressive, 2 |
|
Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Postural tremor, Park... |
OMIM:609454 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea |
ORPHA:3214 |
Developmental And Epileptic Encephalopathy 71 |
|
Seizure, Gliosis |
OMIM:618328 |
Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Frontotemporal cerebral atrophy, Seizure, Rigidity, Eyelid apraxia, Clumsiness, Parki... |
ORPHA:199351 |
Intermediate Uveitis |
|
Posterior synechiae of the anterior chamber, Cataract, Band keratopathy, Anterior uveitis |
ORPHA:279914 |
Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Spastic diplegia, Seizure, Poor coordination, Choreoathetosis, D... |
ORPHA:391428 |
Niemann-Pick Disease, Type C1 |
|
Gait ataxia, Spasticity, Seizure, Cataplexy, Ataxia, Neuronal loss in central nervous system, Neu... |
OMIM:257220 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Brain atrophy, Seizure, Diffuse cerebral atrophy, Gliosis, Cerebellar atrophy, Neurodegeneration,... |
OMIM:214150 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Global brain atrophy, Myoclonic spasms, Poor coordination, Diffuse cerebellar atrophy, Bilateral ... |
ORPHA:478029 |
Progressive Non-Fluent Aphasia |
|
Frontotemporal cerebral atrophy, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor funct... |
ORPHA:100070 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Seizure, Spastic tetraplegia, Gliosis, Hypertonia, Tetraplegia |
OMIM:608033 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Chorea, Seizure, Spastic tetraplegia, Myoclonus, Ataxia, Gliosis, Cerebral atrophy, ... |
OMIM:618321 |
Parkinson Disease 1, Autosomal Dominant |
|
Global brain atrophy, Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Myoclonus, Gait dis... |
OMIM:168601 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Posterior lenticonus, Chorioretinal coloboma, Microcornea |
ORPHA:231736 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Myoclonic seizure, Cerebral cortical atrophy, Basal ganglia gliosis, Seizure, Myoclonus, Diffuse ... |
OMIM:614946 |
Pick Disease Of Brain |
|
Neuronal loss in central nervous system, Gliosis |
OMIM:172700 |
2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Neurofibrillary tangles, Parkinsonism |
OMIM:606688 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Spasticity, Seizure, Spastic tetraplegia, Rigidity, Focal-onset seizure, Ataxia, Difficulty walki... |
OMIM:618476 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Spasticity, Seizure, Gait disturbance, Gliosis, Unsteady gait |
OMIM:603896 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Cerebral cortical atrophy, Falls, Rigidity, Neuronal loss in central nervous syste... |
ORPHA:683 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... |
ORPHA:96125 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... |
OMIM:614298 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Spasticity, Cerebral amyloid angiopathy, Ataxia, Neurofibrillary tangles, Intention tremor |
OMIM:117300 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Generalized tonic seizure, Seizure, Inability to walk, Cataplexy, Upper limb spasticity, Tongue f... |
OMIM:617193 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... |
OMIM:601552 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Gait disturbance, Babinski sign, Difficulty walking, Hypertonia, Neurodegeneration, Broad-based g... |
ORPHA:79244 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Extrapyramidal dyskinesia, Cerebral cortical atrophy, Seizure, Gliosis, Opisthotonus |
OMIM:277470 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia |
OMIM:615919 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Spasticity, Pseudobulbar paralysis, Ataxia, Babinski sign, Gliosis, Corpus callosum atrophy |
OMIM:169500 |
Amyotrophic Lateral Sclerosis |
|
Spasticity, Motor neuron atrophy, Paralysis, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104310 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Gait ataxia, Seizure, Spastic tetraplegia, Spastic diplegia, Poor coordination, Gait disturbance,... |
OMIM:616878 |
Tay-Sachs Disease |
|
Poor fine motor coordination, Global brain atrophy, Exaggerated startle response, Ankle clonus, T... |
ORPHA:845 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104300 |
Cerebral Visual Impairment |
|
Seizure, Cerebral palsy, Clumsiness, Oculomotor apraxia, Central nervous system degeneration, Neu... |
ORPHA:447788 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism |
ORPHA:54 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:613154 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Global brain atrophy, Spasticity, Blepharospasm, Abnormal pyramidal sign, Akinesia, Parkinsonism,... |
OMIM:234200 |
Familial Acute Necrotizing Encephalopathy |
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Spasticity, Seizure, Spastic tetraplegia, Rigidity, Gait disturbance, Gliosis, Hypertonia |
ORPHA:88619 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Chorioretinal atroph... |
ORPHA:364055 |
Multiple System Atrophy 1, Susceptibility To |
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Parkinsonism, Rigidity, Ataxia, Babinski sign, Tremor, Neurodegeneration, Bradykinesia |
OMIM:146500 |
Woolly Hair |
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Abnormal pupil morphology, Cataract |
ORPHA:170 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Seizure, Spastic tetraplegia, Diffuse cerebral atrophy, Head titubation, Gliosis |
ORPHA:3240 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Epilepsia partialis continua, Myoclonus, Paralysis, Generalized non-convulsive status epilepticus... |
OMIM:203700 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Inability to walk, Titubation, Ataxia, Dystonic gait, Gliosis, Difficulty walking, Lower limb spa... |
ORPHA:280210 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Anterior chamber flare, Posterior synechiae of the anterior chamber, Choroidal neovascularization... |
ORPHA:91500 |
Norrie Disease |
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Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... |
OMIM:310600 |
Hereditary Late-Onset Parkinson Disease |
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Cerebral cortical atrophy, Shuffling gait, Akinesia, Resting tremor, Parkinsonism, Rigidity, Park... |
ORPHA:411602 |
Aortic Aneurysm, Familial Thoracic 6 |
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Iris flocculi |
OMIM:611788 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Anisocoria |
OMIM:300858 |
Niemann-Pick Disease, Type C2 |
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Spasticity, Seizure, Cataplexy, Ataxia, Neurofibrillary tangles |
OMIM:607625 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Spasticity, Cerebral cortical atrophy, Seizure, Postural tremor, Truncal ataxia, Myoclonus, Statu... |
OMIM:301072 |
Chediak-Higashi Syndrome |
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Seizure, Gait disturbance, Ataxia, Tremor, Neurodegeneration |
OMIM:214500 |
Aniridia 1 |
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Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Seizure, Spastic tetraplegia, Myoclonic spasms, Diffuse cerebral atrophy, Bilateral tonic-clonic ... |
OMIM:252160 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
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Abnormal pupil morphology |
ORPHA:2151 |
Hec Syndrome |
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Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Late-Onset Retinal Degeneration |
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Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... |
ORPHA:67042 |
Triopia |
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Abnormal pupil morphology, Iris coloboma, Microcornea |
ORPHA:3374 |
Axenfeld-Rieger Syndrome, Type 1 |
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Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
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Ankle clonus, Seizure, Falls, Gliosis, Difficulty walking |
OMIM:618222 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Cataract, Megalocornea, Abnormality iris morphology |
ORPHA:370959 |
Mucopolysaccharidosis, Type Ii |
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Neurodegeneration, Seizure |
OMIM:309900 |
Juvenile Glaucoma |
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Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Focal-onset seizure, Clonic seizure, Hypertonia, Isometric tremor, Spasticity, Falls, Spastic dip... |
OMIM:619475 |
1Q41Q42 Microdeletion Syndrome |
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Abnormality iris morphology |
ORPHA:250999 |
Mucopolysaccharidosis, Type Vii |
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Neurodegeneration |
OMIM:253220 |
Hurler Syndrome |
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Neurodegeneration |
OMIM:607014 |
Pierson Syndrome |
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Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi... |
OMIM:609049 |
Nijmegen Breakage Syndrome |
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Glioma, Neurodegeneration |
OMIM:251260 |
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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Neurodegeneration, Seizure, Ataxia |
OMIM:259050 |