Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cataract |
ORPHA:1397 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia, Cataract |
OMIM:617133 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy, Spastic ataxia |
OMIM:271320 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Dysequilibrium Syndrome |
|
Gait disturbance, Ataxia, Cataract |
ORPHA:1766 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Spastic Paraparesis-Deafness Syndrome |
|
Gait disturbance, Ataxia, Cataract |
ORPHA:2815 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Pellagra-Like Syndrome |
|
Ataxia, Cataract |
OMIM:260650 |
Morm Syndrome |
|
Hyperactivity, Cataract |
ORPHA:75858 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract |
ORPHA:85288 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cataract |
ORPHA:3233 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Cataract |
OMIM:278780 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Broad-based gait, Cataract, Gait ataxia |
OMIM:224050 |
Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Hyperactivity |
OMIM:248510 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Gait disturbance, Cataract |
ORPHA:1875 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
Phenylketonuria |
|
Blue irides, Hyperactivity, Attention deficit hyperactivity disorder, Cataract |
OMIM:261600 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Dystonia, Dysmetria, Spastic gait, Ataxia, Tip-toe gait, Cataract, Difficulty walking |
OMIM:609195 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
Usher Syndrome Type 3 |
|
Ataxia, Iris hypopigmentation, Astigmatism, Cataract |
ORPHA:231183 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Iris coloboma |
ORPHA:171860 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
Exudative Vitreoretinopathy 6 |
|
Cataract |
OMIM:616468 |
Peroxisome Biogenesis Disorder 9B |
|
Ataxia, Cataract |
OMIM:614879 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia |
OMIM:300983 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cataract |
OMIM:120433 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Iris hypopigmentation, Broad-based gait |
ORPHA:411515 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Developmental cataract, Cataract |
OMIM:614482 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait |
OMIM:619470 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Dysmetria, Progressive gait ataxia, Tortuosity of conjunctival vessels, Progressive cerebellar at... |
ORPHA:284289 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Dystonia, Juvenile-Onset |
|
Cataract, Generalized dystonia |
OMIM:607371 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity |
OMIM:616977 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Blue irides |
OMIM:615516 |
Retinitis Pigmentosa 2 |
|
Cataract |
OMIM:312600 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Gait ataxia |
OMIM:609425 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:612716 |
Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity |
OMIM:618362 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Hyperopic astigmatism |
ORPHA:397973 |
Norrie Disease |
|
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris |
OMIM:310600 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
Mend Syndrome |
|
Hyperactivity, Cataract |
OMIM:300960 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait |
OMIM:617865 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Keratitis, Hyperactivity, Corneal ulceration, Opacification of the corneal stro... |
OMIM:256800 |
Landau-Kleffner Syndrome |
|
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
Cln5 Disease |
|
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Clark-Baraitser Syndrome |
|
Hyperactivity |
OMIM:617752 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait |
ORPHA:457260 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk |
OMIM:618718 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Inability to walk, Gait ataxia |
ORPHA:500180 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Broad-based gait |
ORPHA:3077 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia |
OMIM:271980 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia |
ORPHA:363400 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk |
ORPHA:1929 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity |
OMIM:615824 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Hyperactivity |
OMIM:614613 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
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Hyperactivity, Broad-based gait |
OMIM:300958 |
Graves Disease, Susceptibility To, 1 |
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Hyperactivity |
OMIM:275000 |
Fragile X Syndrome |
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Hyperactivity |
OMIM:300624 |
Intellectual Developmental Disorder, X-Linked 21 |
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Hyperactivity |
OMIM:300143 |
Aniridia 1 |
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Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Myoclonic-Astatic Epilepsy |
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Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
ORPHA:1942 |
Xeroderma Pigmentosum, Complementation Group D |
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Keratoconjunctivitis sicca, Keratitis, Ataxia, Cataract, Corneal neovascularization, Conjunctivitis |
OMIM:278730 |
X-Linked Creatine Transporter Deficiency |
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Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:52503 |
Gomez-Lopez-Hernandez Syndrome |
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Hyperactivity, Opacification of the corneal stroma, Ataxia |
OMIM:601853 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity |
ORPHA:101039 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Gait disturbance, Hyperactivity, Inability to walk, Ataxia, Astigmatism |
ORPHA:168491 |
Alport Syndrome 2, Autosomal Recessive |
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Cataract, Corneal erosion, Anterior lenticonus |
OMIM:203780 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
Infantile Neuroaxonal Dystrophy |
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Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait |
ORPHA:35069 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
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Hyperactivity |
OMIM:618314 |
Persistent Hyperplastic Primary Vitreous |
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Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Gait imbalance, Ataxia, Hyperactivity, Iris hypopigmentation, Broad-based gait |
ORPHA:98794 |
Oculoauricular Syndrome |
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Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... |
OMIM:612109 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
Angelman Syndrome |
|
Blue irides, Hyperactivity, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
Autosomal Dominant Optic Atrophy And Cataract |
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Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, Ataxia, Posteri... |
ORPHA:67036 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:43 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Ataxia |
OMIM:610042 |
Legius Syndrome |
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Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Cataract |
ORPHA:137605 |
Angelman Syndrome |
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Hyperactivity, Inability to walk, Ataxia, Iris hypopigmentation, Broad-based gait, Astigmatism, K... |
ORPHA:72 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity |
OMIM:252900 |
X-Linked Cerebral Adrenoleukodystrophy |
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Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking |
ORPHA:139396 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
Oculoectodermal Syndrome |
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Limbal dermoid, Astigmatism, Hyperactivity, Opacification of the corneal stroma, Microcornea |
OMIM:600268 |
47,Xyy Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:8 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia |
ORPHA:760 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm |
OMIM:234200 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity |
ORPHA:424 |
Argininemia |
|
Hyperactivity, Spastic gait |
OMIM:207800 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Hyperactivity, Unsteady gait, Ataxia |
OMIM:614756 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Corneal scarring, Hyperactivity, Corneal ulceration, Difficulty walking, Decreased corneal reflex |
ORPHA:642 |