Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
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 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:609115 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract |
ORPHA:85288 |
Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... |
OMIM:261600 |
Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Morm Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior |
ORPHA:75858 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior |
OMIM:248510 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Cataract, Zonular cataract |
OMIM:222765 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Hyperferritinemia With Or Without Cataract |
|
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder |
OMIM:617028 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract |
OMIM:620312 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract |
ORPHA:2489 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Galactose Mutarotase Deficiency |
|
Cataract, Hypergalactosemia |
ORPHA:570422 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma |
OMIM:120433 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Decreased testicular size |
ORPHA:1875 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Cataract |
ORPHA:2528 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615352 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Increased phytanic acid:pristanic acid ratio, Cataract, Elevated circulating phytanic acid concen... |
OMIM:614307 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism |
ORPHA:1381 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Galactose Epimerase Deficiency |
|
Cataract |
ORPHA:79238 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Usher Syndrome Type 3 |
|
Cataract, Iris hypopigmentation, Astigmatism, Depression |
ORPHA:231183 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Hyperthreoninemia |
OMIM:204000 |
Martsolf Syndrome 2 |
|
Cataract, Developmental cataract |
OMIM:619420 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy |
OMIM:604278 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Stickler Syndrome, Type V |
|
Cataract |
OMIM:614284 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... |
OMIM:618718 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Cryptorchidism, Cataract |
ORPHA:893 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Cataract |
OMIM:601794 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Eye poking |
OMIM:613835 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Cataract |
ORPHA:363741 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cataract |
OMIM:606069 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:3449 |
Stiff Skin Syndrome |
|
Cataract |
OMIM:184900 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Cataract, Subcapsular cataract |
ORPHA:414 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Norrie Disease |
|
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... |
OMIM:310600 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
Galactokinase Deficiency |
|
Cataract, Increased level of galactitol in plasma, Nuclear cataract, Hypergalactosemia, Hyperchol... |
ORPHA:79237 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Elevated circulating phytanic acid concentration |
OMIM:614879 |
Classic Phenylketonuria |
|
Self-injurious behavior, Cataract, Attention deficit hyperactivity disorder, Depression |
ORPHA:79254 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... |
OMIM:256800 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Cataract |
OMIM:613730 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Intellectual Developmental Disorder, X-Linked 107 |
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Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Morning Glory Disc Anomaly |
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Cataract |
ORPHA:35737 |
Galactosemia I |
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Cataract, Increased level of galactitol in plasma, Hypergalactosemia, Increased level of galacton... |
OMIM:230400 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Cataract, Hypoalbuminemia |
OMIM:618805 |
Cataract 15, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Wagro Syndrome |
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Cataract, Corneal opacity, Aggressive behavior, Agitation, Low frustration tolerance, Compulsive ... |
OMIM:612469 |
Kyrle Disease |
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Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
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Posterior subcapsular cataract |
OMIM:616279 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Cataract |
ORPHA:523 |
Familial Isolated Hypoparathyroidism |
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Cataract, Hypocalcemia |
ORPHA:2238 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Buphthalmos, Cataract, Iris coloboma, Corneal scarring |
OMIM:212550 |
Peroxisome Biogenesis Disorder 10B |
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Cataract |
OMIM:617370 |
Cataract 40 |
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Nuclear cataract, Sutural cataract |
OMIM:302200 |
Graves Disease, Susceptibility To, 1 |
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Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Cataract 16, Multiple Types |
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Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... |
ORPHA:449291 |
Microphthalmia With Brain And Digit Anomalies |
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Cataract, Sclerocornea, Cryptorchidism, Microcornea, Iris coloboma |
ORPHA:139471 |
Cadds |
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Cataract, Increased circulating very long-chain fatty acid concentration |
ORPHA:369942 |
Premature Aging Syndrome, Okamoto Type |
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Cataract |
OMIM:601811 |
Autoimmune Polyendocrinopathy Type 1 |
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Increased circulating cortisol level, Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Ifap Syndrome 2 |
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Keratitis, Keratoconjunctivitis sicca, Cataract |
OMIM:619016 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Corneal erosion, Cataract |
OMIM:614878 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Cataract 32, Multiple Types |
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Anterior polar cataract |
OMIM:115650 |
Chromosome 16Q12 Duplication Syndrome |
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Anisocoria, Cataract |
OMIM:619649 |
Alport Syndrome 2, Autosomal Recessive |
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Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
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Buphthalmos, Cataract, Elevated circulating creatine kinase concentration |
ORPHA:370997 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Ectodermal Dysplasia-Blindness Syndrome |
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Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Transketolase Deficiency |
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Cataract, Self-injurious behavior, Conjunctivitis, Attention deficit hyperactivity disorder, Comp... |
ORPHA:488618 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Fuchs Heterochromic Iridocyclitis |
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Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Aniridia 1 |
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Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Exudative Vitreoretinopathy 6 |
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Nuclear cataract, Cataract, Cortical cataract |
OMIM:616468 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Self-biting |
OMIM:618314 |
Microphthalmia, Syndromic 5 |
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Microcornea, Cryptorchidism, Cataract |
OMIM:610125 |
Enhanced S-Cone Syndrome |
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Cataract |
OMIM:268100 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Persistent Hyperplastic Primary Vitreous |
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Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Oculoauricular Syndrome |
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Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Cataract 23, Multiple Types |
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Lamellar cataract |
OMIM:610425 |
Mednik Syndrome |
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Cataract, Increased circulating very long-chain fatty acid concentration |
OMIM:609313 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Cataract, Keratoconjunctivitis, Steatorrhea, Band keratopathy |
OMIM:269200 |