| Hypertrophic Neuropathy And Cataract |
|
Cataract, Increased CSF protein concentration |
OMIM:239900 |
| Spastic Paraparesis And Deafness |
|
Cataract, Spastic paraparesis, Hearing impairment, Tremor |
OMIM:312910 |
| Optic Atrophy 2 |
|
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic atrophy, Hearing impairment, Tremor, Abnormality of extrapyramidal motor function... |
OMIM:165300 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract, Hearing impairment |
OMIM:120040 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly, Kinetic tremor, Tremor |
OMIM:611808 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... |
OMIM:601068 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Hearing impairment, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity,... |
ORPHA:401830 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen... |
OMIM:615127 |
| Corneal dystrophy, lisch epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Developmen... |
ORPHA:1368 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract, Dandy-Walker malformation |
ORPHA:73245 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... |
OMIM:613608 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Cataract, Limb ataxia, Gait ataxia |
OMIM:617133 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Gait ataxia, Limb dystonia, Tremor, Rigidity, Abnormality of extrapyramidal motor func... |
OMIM:605407 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Abnormal antihelix morphology, Hearing impairment |
OMIM:274205 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis |
ORPHA:2807 |
| Nathalie Syndrome |
|
Cataract, Sensorineural hearing impairment |
ORPHA:2663 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Hearing impairment |
OMIM:300719 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Hearing impairment, Tremor |
ORPHA:217012 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Spastic ataxia, Corneal dystrophy, Developmental cataract |
OMIM:271320 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Spastic paraparesis, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Ataxia |
ORPHA:2815 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Cataract 11, Multiple Types |
|
Cataract, Chorea, Hypertonia, Developmental cataract |
OMIM:610623 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Ataxia, Upper motor neuron dysfunction, Corneal dystrophy, Progressive cerebella... |
ORPHA:3177 |
| Dysequilibrium Syndrome |
|
Cataract, Cerebral palsy, Ataxia |
ORPHA:1766 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Hemiplegia/hemiparesis, Spastic ataxia, Developmental cataract, Ataxia, Corneal dy... |
ORPHA:2572 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy |
OMIM:121820 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract, Sensorineural hearing impairment |
OMIM:613076 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Hearing impairment, Tremor |
OMIM:614369 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Abnormal motor nerve conduction velocity, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Developmental And Epileptic Encephalopathy 97 |
|
Ventriculomegaly, Hypsarrhythmia, Tremor |
OMIM:619561 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor |
OMIM:611092 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Kleeblattschaedel |
|
Recurrent corneal erosions, Hydrocephalus |
OMIM:148800 |
| Epilepsy, Progressive Myoclonic 7 |
|
EEG with generalized epileptiform discharges, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... |
OMIM:619279 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus, Episodic ataxia |
ORPHA:251912 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Laryngeal dystonia, Retrocollis, Astigmatism, Tremor, Myoclonus, Craniofacial dystoni... |
OMIM:617284 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Bradykinesia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Park... |
OMIM:260300 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Hemiplegia/hemiparesis, Cerebral palsy, Ataxia |
ORPHA:99966 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Tremor, Sensorineural hearing impairment |
ORPHA:66633 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Writer's cramp, Tremor, Torticollis |
OMIM:159900 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... |
OMIM:610532 |
| Spinocerebellar Ataxia 40 |
|
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... |
OMIM:616053 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Intention tremor, Abno... |
ORPHA:101110 |
| Biemond Syndrome Ii |
|
Iris coloboma, Hydrocephalus |
OMIM:210350 |
| Alexander Disease |
|
Increased CSF protein concentration, Spasticity, Dysmetria, Babinski sign, Microcoria, Hydrocepha... |
OMIM:203450 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus |
OMIM:616921 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Interictal epileptiform activity, Myoclonus, Tremor |
OMIM:615400 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Hemiballismus, Tremor |
ORPHA:494526 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Writer's ... |
OMIM:608105 |
| Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Tremor, Fasciculations |
ORPHA:65684 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy, Ataxia |
OMIM:271310 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia |
OMIM:612437 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Spasticity, Tremor, Hypsarrhythmia, Ataxia, Multifocal epil... |
ORPHA:599373 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... |
OMIM:607876 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Spastic tetraparesis, Hydrocephalus, Tremor |
OMIM:619470 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Cataract, Increased CSF lactate, Decreased nerve conduction velocity, Sensorineural hearing impai... |
OMIM:614932 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Cogwheel rigidity, Gai... |
OMIM:128230 |
| Glut1 Deficiency Syndrome 2 |
|
Hypoglycorrhachia, Increased CSF lactate, Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis |
OMIM:612126 |
| Gómez-López-Hernández Syndrome |
|
Ataxia, Low-set ears, Hydrocephalus, Corneal opacity |
ORPHA:1532 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus, Ataxia |
OMIM:618709 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Spasticity, Optic atrophy, Decreased nerve conduction velocity, Dysmetria, Subcapsular ... |
OMIM:612674 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
| Nathalie Syndrome |
|
Cataract, Hearing impairment |
OMIM:255990 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Ocular anterior segment dysgenesis, Dev... |
ORPHA:324416 |
| 1Q21.1 Microduplication Syndrome |
|
Cataract, Hydrocephalus, Hypertonia |
ORPHA:250994 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... |
ORPHA:216873 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment |
OMIM:217400 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
EEG abnormality, Hydrocephalus, Hearing impairment |
ORPHA:1008 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract, Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia |
ORPHA:3233 |
| Caribbean Parkinsonism |
|
Ventriculomegaly, Bradykinesia, Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity... |
ORPHA:97355 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
| Neuronal Intranuclear Inclusion Disease |
|
Increased CSF protein concentration, Ventriculomegaly, Decreased motor nerve conduction velocity,... |
OMIM:603472 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cataract, Spastic paraplegia, Hearing impairment, Hand tremor, Head tremor, Limb dysmetria, Upper... |
OMIM:614409 |
| Lissencephaly 5 |
|
Cataract, Spastic paraplegia, Optic atrophy, Occipital encephalocele, Hearing impairment, Hydroce... |
OMIM:615191 |
| Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Dandy-Walker Syndrome |
|
Truncal ataxia, Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Hemiplegia, Tremor, Hemiparesis |
OMIM:141500 |
| Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia, EEG abnormality, Meni... |
ORPHA:588 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat... |
ORPHA:363654 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ventriculomegaly, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, B... |
OMIM:615362 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy |
OMIM:217800 |
| Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Sensorineural hearing impairment, Truncal a... |
ORPHA:363710 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Dysmetria, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Bradykinesia, Increased CSF homovanillic acid concentration, Chorea, Limb dyst... |
OMIM:613135 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Severe sensorineural hearing impairment, Hydrocephalus |
OMIM:604213 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... |
ORPHA:52368 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Spasticity, Optic atrophy |
OMIM:620312 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Hearing impairment, Increased CSF lactate, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, ... |
ORPHA:139485 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
EEG with burst suppression, Hydrocephalus |
OMIM:266100 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Microcornea, Ventriculomegaly, Chorea, Abnormality of peripheral nerve conduction, Dysm... |
ORPHA:48431 |
| Spinocerebellar Ataxia 50 |
|
Froment sign, Hearing impairment, Postural tremor, Head tremor, Myoclonus, Chorea, Action tremor,... |
OMIM:620158 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, EEG with spike-wave complexes, Gait ataxia, Myoclonus, Tremor, EEG with polyspike wave co... |
OMIM:618587 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... |
ORPHA:99657 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Hearing impairment, Tremor, Ataxia |
ORPHA:101075 |
| Spinocerebellar Ataxia 12 |
|
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... |
OMIM:604326 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Increased CSF protein concentration, ... |
ORPHA:206443 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy... |
ORPHA:251282 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Congenital Hydrocephalus |
|
Optic atrophy, Ventriculomegaly, Sensorineural hearing impairment, Colpocephaly, Posteriorly rota... |
ORPHA:2185 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Spastic paraplegia, Optic atrophy, Postural tremor, Limb dysmetria, Sensorineural heari... |
OMIM:270800 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia |
OMIM:615924 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia |
OMIM:615768 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favo... |
ORPHA:314632 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Hearing impairment, Tremor,... |
OMIM:609260 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Developmental And Epileptic Encephalopathy 36 |
|
Low-set ears, Optic atrophy, Abnormality of extrapyramidal motor function, Abnormal pyramidal sig... |
OMIM:300884 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Tremor, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, EEG abnormality, Ataxia, Dystonia |
OMIM:617836 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Developmental And Epileptic Encephalopathy 32 |
|
EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... |
ORPHA:521406 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Developmental cataract |
OMIM:600559 |
| Masa Syndrome |
|
Spastic paraplegia, Ventriculomegaly, Paraplegia, Lower limb spasticity, Hydrocephalus |
OMIM:303350 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ... |
ORPHA:314978 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Bradykinesia... |
ORPHA:454887 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus, Dystonia, Spastic tetraplegia, Hypertonia |
OMIM:619301 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Hearing impairment, Tremor, Ataxia |
ORPHA:101078 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cataract, Dysdiadochokinesis, Gait ataxia, Dysmetria, Cerebellar ataxia associated with quadruped... |
OMIM:224050 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Ravine Syndrome |
|
Spasticity, Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Abnormally prominent line of Schwalbe, Abnormal auditory evoked potentials, Rie... |
OMIM:109120 |
| Fried Syndrome |
|
Macrotia, Hydrocephalus, Hearing impairment, Spastic diplegia |
ORPHA:85335 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cataract, Limb tremor |
OMIM:616647 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Limb dystonia, Hearing impairment, Tremor, Ataxia |
OMIM:620270 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... |
OMIM:164500 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Cataract, Tongue fasciculations, Decreased motor nerve conduction velocity, Hand tremor, Sensorin... |
OMIM:162400 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Myoclonus, Tremor |
OMIM:619651 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ventriculomegaly, Band keratopathy, Hypoplasia of the iris, Hydrocephalus, Ocular anterior segmen... |
OMIM:614195 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Dystonia, Spastic tetraplegia, Hypertonia |
OMIM:619302 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... |
ORPHA:240103 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor |
OMIM:614307 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dy... |
OMIM:213600 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Optic atrophy, Hand tremor, Postural tremor, Sensorineural hearing impairment, Babinski sign, Voc... |
ORPHA:99947 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, EEG abnormality, Tremor, Ataxia |
OMIM:617831 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Optic atrophy, Hypsarrhythmia, Hydrocephalus, Hypertonia, Ataxia, EEG abnormality, Spastic tetrap... |
OMIM:618174 |
| Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism, Sensorineural hearing impairment, Ataxia, Abnormal ... |
ORPHA:231183 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Dystonia 12 |
|
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia |
OMIM:128235 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Fasciculations, Tortuosity of conjunctival vessels, Limb ataxia, Dysmetria, Ankle clonu... |
ORPHA:284289 |
| Parkinson Disease 17 |
|
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Hearing impairment, Encephalocele, Hemiplegia/hemiparesis, Abnormal optic ... |
ORPHA:65 |
| Martsolf Syndrome 2 |
|
Cataract, Lateral ventricle dilatation, Developmental cataract, Macrotia, Spastic diplegia |
OMIM:619420 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Cataract, Tongue fasciculations, Decreased motor nerve conduction velocity, Ventriculomegaly |
OMIM:619851 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Cataract, Spasticity, Dandy-Walker malformation, Spastic tetraparesis, Macrotia |
OMIM:616154 |
| Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia |
ORPHA:306669 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Spasticity, Abnor... |
OMIM:125250 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Abnormal sensory nerve conduction velocity, Tremor, Fasciculations |
ORPHA:276435 |
| Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Orthos... |
OMIM:616710 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia |
ORPHA:98763 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait |
OMIM:600363 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Dilated fourth ventricle, Limb ataxia, Gait ataxia, Dysmetria, Tremor... |
OMIM:213200 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Optic atrophy, Spasticity, Ventriculomegaly, Incoordination, Increased CSF lactate, Increased CSF... |
OMIM:616034 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
| Corneal Dystrophy, Congenital Stromal |
|
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion |
OMIM:610048 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo... |
OMIM:617145 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis |
OMIM:261630 |
| Hsd10 Disease |
|
Optic atrophy, Ventriculomegaly, Spastic paraparesis, Hearing impairment, Myoclonus, Tremor, Rigi... |
ORPHA:391417 |
| Stickler Syndrome Type 2 |
|
Sensorineural hearing impairment, Cataract, Corneal opacity |
ORPHA:90654 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Krabbe Disease |
|
Increased CSF protein concentration, Optic atrophy, Hearing impairment, Decreased nerve conductio... |
OMIM:245200 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Decreased CSF 5-hydroxyindolacetic acid concentration, Bradykinesia, Tremor, Rigidity, Decreased ... |
OMIM:261640 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Abnormal autono... |
ORPHA:329284 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Lower limb... |
OMIM:616881 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment, Tremor, Paraparesis, Ataxia |
ORPHA:99014 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma |
OMIM:617141 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased CSF protein concentration, Decreased motor nerve conduction velocity, Decreased amplitu... |
ORPHA:206594 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Tinnitus, Babinski sign, Hydrocephalus, Ataxia |
ORPHA:73256 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, Progressive spasticity |
ORPHA:2528 |
| Epilepsy, Progressive Myoclonic, 6 |
|
EEG with spike-wave complexes, Myoclonus, Tremor, Ataxia |
OMIM:614018 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Sensorineural hearing imp... |
ORPHA:99027 |
| Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Tremor, Dysmetria, Babinski sign, Parkinsonism, Ataxia, Dystonia |
OMIM:618093 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Interictal EEG abnormality, Chorea, Myoclonus, Tremor, Dysmetria, Clumsiness, Myoclon... |
ORPHA:79263 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Peroxisome Biogenesis Disorder 8B |
|
Cataract, Spasticity, Spastic paraparesis, Optic atrophy, Gait ataxia, Dysmetria, Rigidity, Ankle... |
OMIM:614877 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervous system physio... |
OMIM:618049 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Low-set ears, Dilated fourth ventricle, Posterior embryotoxon, Hydrocephalus, Truncal ataxia, Dan... |
OMIM:220220 |
| Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Postural tremor, Posterior subcapsular cataract, Ataxia |
OMIM:300619 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Babinski sign |
OMIM:610245 |
| Aicardi-Goutieres Syndrome 4 |
|
Low-set ears, Ventriculomegaly, Spasticity, CSF lymphocytic pleiocytosis, Hydrocephalus, Dystonia |
OMIM:610333 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Bradykinesia, EEG with generalized slow ... |
OMIM:300055 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Spasticity, Tremor, Ataxia, Abnormal pinna morphology |
OMIM:300983 |
| 4H Leukodystrophy |
|
Cataract, Optic atrophy, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progres... |
ORPHA:289494 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... |
OMIM:613270 |
| Phenylketonuria |
|
Lower limb spasticity, EEG abnormality, Tremor, Ataxia |
ORPHA:716 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Astigmatism, Optic disc pallor, Frequent falls, Abnormality ... |
OMIM:617523 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Ataxia |
OMIM:617917 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Spasticity, Lateral ventricle dilatation |
OMIM:600348 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ventriculomegaly, Large fleshy ears, Astigmatism, Tremor, Hypertonia, Ataxia |
OMIM:619556 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Abnormal antihelix morphology, Cataract, Hypoplasia of the antihelix, Hearing impairment |
ORPHA:2489 |
| Flynn-Aird Syndrome |
|
Cataract, Increased CSF protein concentration, Progressive sensorineural hearing impairment, Ataxia |
OMIM:136300 |
| Dystonia 7, Torsion |
|
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... |
OMIM:602124 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Hydrocephalus, Optic atrophy, Astigmatism |
OMIM:248000 |
| Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Hearing impairment |
OMIM:120433 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Ventriculomegaly, Optic atrophy, EEG abnormality, Hydrocephalus |
ORPHA:272 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Cataract, Sensorineural hearing impairment, Posterior embryotoxon, Corneal opacity... |
ORPHA:1473 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Spasticity, Gait ataxia, Dysmetria, Tremor, Apraxia, EEG abnormality |
OMIM:617810 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Increased CSF interferon alpha, Dystonia, CSF pleocytosis |
OMIM:615010 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cataract, Hearing impairment, Head tremor, Babinski sign, Abnormal pyramidal sign, Lower limb spa... |
ORPHA:320391 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Dystonia, Decr... |
OMIM:619911 |
| Multiple System Atrophy |
|
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... |
ORPHA:102 |
| Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| X-Linked Immunoneurologic Disorder |
|
Cataract, Hypertonia, Hemiplegia/hemiparesis |
ORPHA:2571 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Resting tremor, Bradykinesia, Chorea, Cogwheel rigidity, Myoclonus, Park... |
OMIM:619725 |
| Limbal Stem Cell Deficiency |
|
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... |
ORPHA:171673 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, High-frequency sensorineural hearing impairment, Myoclonus, Tremor, Sensorineural... |
ORPHA:2590 |
| Autosomal Spastic Paraplegia Type 58 |
|
Erratic myoclonus, Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Tremor, Dysme... |
ORPHA:397946 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal degeneration, Corneal dystrophy |
OMIM:610158 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Cataract, Hydrocephalus |
OMIM:601794 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Sensorineural hearing impairment, Ataxia, Tru... |
OMIM:610185 |
| Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, EEG with occipital epileptiform dischar... |
ORPHA:254881 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, EEG abnormality, Hypertonia, Ataxia, Athetosis |
OMIM:617106 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dilated fourth ventricle, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdia... |
OMIM:614831 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Babinski sign, Spasticity, Abnormal pyramidal sign, Hydrocephalus |
OMIM:615599 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
EEG with abnormally slow frequencies, Spasticity, Spastic tetraparesis, Abnormality of somatosens... |
ORPHA:280219 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Tremor, Rigidity, Ba... |
OMIM:606159 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Babinski sign, Spasticity, Abnormal pyramidal sign, Hydrocephalus |
ORPHA:397951 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Abnormal Descemet membrane morphology, Irregular astigmatism, Sensorineural hearing impairment, C... |
ORPHA:293603 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Pill-rolling tremor, Resting tremor, Bradykinesia, Postural tremor, Cogwheel rigidity, Gait ataxi... |
OMIM:600116 |
| Corneal Endothelial Dystrophy |
|
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Cataract, Pseudobulbar paralysis, Babinski sign, Lower limb spasticity, Dystonia |
ORPHA:101006 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torsion dystonia, Tremor, Torticollis |
OMIM:224500 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Spasticity |
OMIM:610156 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Increased CSF protein concentration, ... |
ORPHA:206448 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Increased CSF lactate, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia |
OMIM:612016 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| L1 Syndrome |
|
Spasticity, Hemiplegia/hemiparesis, Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
| Joubert Syndrome 9 |
|
Cataract, Ventriculomegaly, Astigmatism, Encephalocele, Oculomotor apraxia |
OMIM:612285 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Ventriculomegaly, Spasticity, Hydrocephalus |
OMIM:304100 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Hearing impairment, Bradykinesia, Incoordination, Limb fasci... |
OMIM:615157 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia |
OMIM:619738 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Hydrocephalus, Developmental cataract |
OMIM:613155 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Multiple System Atrophy, Parkinsonian Type |
|
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... |
ORPHA:98933 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Resting tremor, Hand tremor, Torsion dystonia, Progressive extrapyramidal muscular... |
ORPHA:53351 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Spasticity, Hearing impairment |
ORPHA:67048 |
| Crigler-Najjar Syndrome Type 1 |
|
Hearing impairment, Tremor |
ORPHA:79234 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Low-set ears, Cataract, Ventriculomegaly, Optic atrophy, Abnormality of extrapyramidal motor func... |
OMIM:619527 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus, Episodic ataxia |
ORPHA:251915 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Spastic tetraplegia, Macrotia |
OMIM:300886 |
| Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
| Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Dilated fourth ventricle, Gait ataxia, Dysmetria, Tremor, Oc... |
ORPHA:1170 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Tremor |
OMIM:607734 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Cataract, Spasticity, Spastic paraplegia, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia |
OMIM:616586 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Dysmetria, Tremor, Lower limb spasticity, Ataxia |
OMIM:619028 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cervical myelopathy, Cataract, Abnormal auditory evoked potentials, Tetraparesis, Sensorineural h... |
OMIM:619260 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
| Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract, Sensorineural hearing impairment, Ataxia, Abnormal cochlea morph... |
ORPHA:231169 |
| Inherited Creutzfeldt-Jakob Disease |
|
Increased CSF protein concentration, Progressive extrapyramidal muscular rigidity, Chorea, Spasti... |
ORPHA:282166 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
| Vitamin K Antagonist Embryofetopathy |
|
Cataract, Optic atrophy, Hearing impairment, Myelomeningocele, Hydrocephalus, Microtia |
ORPHA:1914 |
| Dystonia-Deafness Syndrome 1 |
|
Cataract, Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Sensorin... |
OMIM:607371 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Ventriculomegaly, Optic atrophy, Abnormality iris morphology, Occipital encephalocele, ... |
ORPHA:370959 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Dysmetria, Tremor, Lower limb spasticity, Ataxia, Dystonia |
OMIM:617916 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal seventh cranial physiology, Limb fasciculations, Abnormal peripheral action potential am... |
ORPHA:90117 |
| Bilateral Acute Depigmentation Of The Iris |
|
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
| Alexander Disease Type I |
|
Spasticity, Abnormal pyramidal sign, Hydrocephalus, Ataxia, Palatal tremor |
ORPHA:363717 |
| Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology, Corneal perforation, Corneal scarring, Astigmatism, Recu... |
ORPHA:137596 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Spasticity, Hemiplegia/hemiparesis, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, ... |
ORPHA:240085 |
| Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Progressive hearing impairment, Abnormal cranial nerve morphology, Myoclon... |
ORPHA:97229 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cataract, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Ventriculomegaly, Hydrocephalus, Corneal opacity, Dandy-Walker malformation |
OMIM:613153 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Craniotelencephalic Dysplasia |
|
Optic atrophy, Low-set, posteriorly rotated ears, Hydrocephalus, Frontal encephalocele, Septo-opt... |
ORPHA:1528 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Spasticity, Optic disc pallor, Ventriculomegaly |
OMIM:613730 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Spastic paraplegia, Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory re... |
ORPHA:1215 |
| Ataxia With Vitamin E Deficiency |
|
Dysmetria, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,... |
ORPHA:96 |
| Gillespie Syndrome |
|
Ventriculomegaly, Hypoplasia of the iris, Aniridia, Postural tremor, Ataxia, Slurred speech |
OMIM:206700 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cataract, Spasticity, Dilated third ventricle, Optic atrophy, Resting tremor, Head tremor, Sensor... |
ORPHA:314404 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Hydrocephalus, Congenital, X-Linked |
|
Spastic paraplegia, Spasticity, Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| Congenital Sialidosis Type 2 |
|
Low-set ears, Cataract, Spasticity, Optic atrophy, Hearing impairment, Myoclonus, Dysmetria, Corn... |
ORPHA:93400 |
| Multiple System Atrophy, Cerebellar Type |
|
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Axial d... |
ORPHA:227510 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal guttata, Corneal dystrophy |
OMIM:615523 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity |
OMIM:260540 |
| Nasu-Hakola Disease |
|
Ventriculomegaly, Spasticity, Chorea, Oculomotor apraxia, Hydrocephalus |
ORPHA:2770 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Diencephalic Syndrome |
|
Optic atrophy, Hydrocephalus, Macrotia |
ORPHA:1672 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity |
OMIM:608470 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Myoclonus, Tremor, Facial palsy, Frequent falls |
OMIM:159950 |
| Sialidosis Type 1 |
|
Cataract, Decreased nerve conduction velocity, Myoclonus, Tremor, Sensorineural hearing impairmen... |
ORPHA:812 |
| Cystathioninuria |
|
Abnormal pinna morphology, Tremor |
ORPHA:212 |
| Lissencephaly 8 |
|
Optic atrophy, Cataract, Ventriculomegaly, Occipital encephalocele, Appendicular spasticity |
OMIM:617255 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Hand tremor, Incoordination, Tremor, Dysmetria, Sensor... |
OMIM:302800 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Bradykinesia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, ... |
OMIM:618877 |
| Oculopharyngodistal Myopathy 3 |
|
Increased CSF protein concentration, Conductive hearing impairment, Tremor, Sensorineural hearing... |
OMIM:619473 |
| Sialidosis Type 2 |
|
Ataxia, Hearing impairment, Tremor, Corneal opacity |
ORPHA:87876 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Optic atrophy, Hearing impairment, Increased CSF lactate, Tremor, Babinski sign, Spastic ataxia, ... |
ORPHA:137898 |
| Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal guttata, Corneal dystrophy |
OMIM:613268 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Adams-Oliver Syndrome 2 |
|
Low-set ears, Optic atrophy, Lateral ventricle dilatation, Protruding ear, Limb hypertonia, Hydro... |
OMIM:614219 |
| Spinocerebellar Ataxia 2 |
|
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... |
OMIM:183090 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia |
ORPHA:70594 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Decreased moto... |
OMIM:601596 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, Cataract, Hearing impairment, Ocular albinism, Hydrocephalus, Hypertonia, ... |
ORPHA:2720 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy |
OMIM:602082 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Increased CSF phenylalanine concentration, Tremor, Rigidity, Hyperkinetic movements, Limb hyperto... |
OMIM:233910 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ... |
ORPHA:99750 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Increased CSF protein concentration, Ventriculomegaly, Decreased motor nerve conduction velocity,... |
OMIM:218000 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Oculogyric crisis, Decreased CSF 5-hydroxyindolacetic acid concentration, Tremor, Babinski sign, ... |
ORPHA:35708 |
| Mohr-Tranebjaerg Syndrome |
|
Spasticity, Progressive sensorineural hearing impairment, Tremor, Postlingual sensorineural heari... |
OMIM:304700 |
| Atypical Rett Syndrome |
|
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Gait ataxia... |
ORPHA:3095 |
| Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, Spasticity, Ventriculomegaly, Macrotia, Myoclonus, Hydrocephalus, Dandy-Walker mal... |
OMIM:617281 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Corneal perforation, Hearing impairment, Megalocornea, Keratoglobus, Sclerocornea, F... |
OMIM:614170 |
| Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... |
ORPHA:101 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Stickler Syndrome, Type V |
|
Cataract, Sensorineural hearing impairment |
OMIM:614284 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidity, Babinski sign, Parkins... |
OMIM:606693 |
| Granular Corneal Dystrophy Type I |
|
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... |
ORPHA:98962 |
| Multiple Sulfatase Deficiency |
|
Cataract, Optic atrophy, Abnormality of peripheral nerve conduction, Sensorineural hearing impair... |
ORPHA:585 |
| Parkinson Disease 21 |
|
Parkinsonism, Bradykinesia, Tremor, Rigidity |
OMIM:616361 |
| Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Cataract, Hydrocephalus |
ORPHA:2635 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Torticollis, Writer's cramp, Torsion ... |
OMIM:128100 |
| Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... |
ORPHA:293381 |
| Classic Phenylketonuria |
|
Cataract, Hemiplegia, Paraplegia, Tremor, Hypertonia |
ORPHA:79254 |
| Autosomal Recessive Spastic Paraplegia Type 5A |
|
Cataract, Spastic paraplegia, Limb ataxia, Ankle clonus, Sensorineural hearing impairment, Babins... |
ORPHA:100986 |
| Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly, Spasticity, Hearing impairment, Corneal op... |
OMIM:272200 |
| Cadds |
|
Cataract, Dystonia, Ventriculomegaly, Sensorineural hearing impairment |
ORPHA:369942 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cataract, Involuntary movements, Myoclonus, Dysmetria, Abnormal pyramidal sign |
OMIM:619780 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Optic atrophy, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, EEG abnormality |
ORPHA:529665 |
| Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
| Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Dystonia |
OMIM:617435 |
| Behr Syndrome |
|
Optic atrophy, Dysmetria, Tremor, Babinski sign, Ataxia, Truncal ataxia, Progressive spasticity, ... |
OMIM:210000 |
| Amelocerebrohypohidrotic Syndrome |
|
EEG abnormality, Spasticity, Hydrocephalus |
ORPHA:1946 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Low-set ears, Tongue fasciculations, Spasticity, Spastic paraplegia, Ventriculomegaly, Optic atro... |
OMIM:614969 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki... |
OMIM:612953 |
| Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hearing impairment |
OMIM:614885 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls |
OMIM:616719 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Low-set ears, Spastic paraplegia, Tremor, Babinski sign |
ORPHA:477673 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, EEG with spike-wave complexes, Tremor, Ataxia, Bradykinesia, Poor fine motor coor... |
ORPHA:36387 |
| 6P22 Microdeletion Syndrome |
|
Low-set ears, Overfolded helix, Hydrocephalus, Hearing impairment |
ORPHA:251046 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Absent brainstem auditory responses, Head titubation, Spastic tetraplegia, Vestibular areflexia |
ORPHA:3240 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity... |
OMIM:607483 |
| Developmental And Epileptic Encephalopathy 46 |
|
Hypsarrhythmia, Limb hypertonia, Tremor |
OMIM:617162 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Abnormal autonomic nervous sys... |
OMIM:300894 |
| Edinburgh Malformation Syndrome |
|
Low-set ears, Brushfield spots, Hydrocephalus, Hypertonia |
ORPHA:1895 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Spasticity, Postural tremor, Tremor, Dysmetria, Babinski sign, Ataxia, Dystonia |
OMIM:607694 |
| Crouzon Syndrome |
|
Optic atrophy, Conductive hearing impairment, Hearing impairment, Narrow internal auditory canal,... |
ORPHA:207 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
| Glutathionuria |
|
Dysdiadochokinesis, Action tremor, Tremor |
OMIM:231950 |
| Joubert Syndrome With Renal Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Tremor, Aganglionic megacolon, Oculomotor aprax... |
ORPHA:220497 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Opisthotonus, Hydrocephalus, Spina bifida, Ataxia |
OMIM:207950 |
| Spinocerebellar Ataxia 42 |
|
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait |
OMIM:616795 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Increased CSF protein concentration, ... |
ORPHA:206436 |
| Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal auditory evoked potentials, Cerebral palsy, Sensorineural hearing ... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal auditory evoked potentials, Cerebral palsy, Sensorineural hearing ... |
ORPHA:529808 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Low-set ears, Large fleshy ears, Myoclonus, Gait ataxia, Tremor, Hypertonia, Ataxia, Overfolded h... |
OMIM:619092 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Involuntary movements, Spasticity, Abnormality of coordination, Myoclonus, Tremor,... |
ORPHA:442835 |
| Developmental And Epileptic Encephalopathy 4 |
|
Spastic paraplegia, EEG with burst suppression, Tremor, Hypsarrhythmia, Spastic tetraplegia, Chor... |
OMIM:612164 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Oculogyric crisis, Spastic tetraparesis, Abnormality of coordination, Limb dystonia, Tremor, Park... |
ORPHA:352649 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cataract, Ventriculomegaly, Optic atrophy, Hearing impairment, Cerebral palsy, Colpocephaly, Hydr... |
OMIM:619833 |
| Joubert Syndrome |
|
Low-set ears, Encephalocele, Tremor, Aganglionic megacolon, Oculomotor apraxia, Hydrocephalus, At... |
ORPHA:475 |
| Pettigrew Syndrome |
|
Optic atrophy, Spasticity, Ventriculomegaly, High-frequency hearing impairment, Gait ataxia, Sens... |
OMIM:304340 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Ventriculomegaly, Dilated third ventricle, Posterior synechiae of the anterior cha... |
OMIM:613154 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Generalized dystonia, Bradykinesia, Limb dystonia, Tremor, Ankle clonus, Opisthotonus... |
OMIM:617013 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Spina bifida occulta... |
OMIM:618060 |
| Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly |
ORPHA:250923 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract |
OMIM:614292 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cataract, Hearing impairment, Fasciculations, Tremor, Limb hypertonia, Exaggerated startle response |
OMIM:620327 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Cataract, Spastic paraplegia, Resting tremor, Gait ataxia, Hoffmann sign, Babinski sign, Lower li... |
OMIM:601162 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell... |
ORPHA:98773 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Posterior polar cataract, Spasticity, Hearing impairment, Ataxia, Intention tremor |
OMIM:117300 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Hearing impairment, Hydrocephalus, Opacification of the corneal stroma, Anterior cha... |
OMIM:601499 |
| Cerebrotendinous Xanthomatosis |
|
Spasticity, Spastic paraparesis, Myelopathy, Resting tremor, Abnormal motor evoked potentials, Pa... |
ORPHA:909 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
| Glutaric Acidemia I |
|
Lateral ventricle dilatation, Rigidity, Opisthotonus, Hydrocephalus, Dystonia, Choreoathetosis, S... |
OMIM:231670 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Hec Syndrome |
|
Communicating hydrocephalus, Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Bradykinesia, Resting tremor, Rigidity |
OMIM:614251 |
| Peroxisome Biogenesis Disorder 5B |
|
Dysmetria, Sensorineural hearing impairment, Tremor, Oculomotor apraxia, Ataxia |
OMIM:614867 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract, Spastic paraparesis |
OMIM:619338 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Optic atrophy, Ventriculomegaly, Tremor, Dysmetria, Limb hypertonia, Hypertonia, Ataxia, Dystonia... |
OMIM:617710 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Focal EEG discharges with secondary generalization, Tremor, Parkinsonism, Lower l... |
ORPHA:3077 |
| Bresek Syndrome |
|
Low-set ears, Hearing impairment, Protruding ear, Aganglionic megacolon, Hydrocephalus, Iris colo... |
ORPHA:85284 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
OMIM:608768 |
| Cerebrotendinous Xanthomatosis |
|
Cataract, Spasticity, Elevated CSF cholestanol concentration, Pseudobulbar paralysis, EEG with ge... |
OMIM:213700 |
| Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Hearing impairment, Hemiplegia/hemiparesis, Hydrocephalus, Corneal opacity, Iri... |
ORPHA:1647 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Progressive extrapyramidal muscular rigidity, Bradykinesia, Axial dystonia, Tremor... |
ORPHA:240071 |
| Congenital Toxoplasmosis |
|
Ventriculomegaly, Hydrocephalus, Hearing impairment |
ORPHA:858 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hearing impairment, Hydrocephalus, Sclerocornea, Holoprosencephaly, Iris coloboma |
ORPHA:77298 |
| Peroxisome Biogenesis Disorder 10B |
|
Low-set ears, Cataract, Posteriorly rotated ears, Spastic paraplegia |
OMIM:617370 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Spastic paraplegia, Optic atrophy, Hearing impairment, Generalized dystonia, Intention tr... |
OMIM:312080 |
| Papilloma Of Choroid Plexus |
|
