| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the kidney, Hydroureter, Abnormality of the urinary system, Abnorm... |
ORPHA:2838 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,... |
OMIM:269400 |
| Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... |
OMIM:143400 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Congenital Primary Megaureter |
|
Recurrent urinary tract infections, Hydronephrosis, Microscopic hematuria, Congenital megaureter,... |
ORPHA:617 |
| Deafness, Autosomal Dominant 80 |
|
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... |
OMIM:619274 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial foot polydactyly, Horizontal ribs, Lateral clavicle hook, Short ribs, Trident acetabulu... |
OMIM:617405 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
| Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Glaucoma, Ectopia lentis |
ORPHA:2084 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Glaucoma, Persistent pupillary membrane |
OMIM:620253 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... |
ORPHA:93109 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Microspherophakia, Glaucoma, Deep anteri... |
OMIM:251750 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Iris coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Miosis, Glaucoma, Chorior... |
OMIM:212550 |
| Microcornea, Glaucoma, And Absent Frontal Sinuses |
|
Glaucoma, Microcornea |
OMIM:156700 |
| Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... |
ORPHA:93403 |
| Acropectoral Syndrome |
|
Pectus excavatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Pectus carinatum, T... |
OMIM:605967 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Iris coloboma, Retinal detachment, Microphthalmia, Posterior embryotoxon, Chorioretinal... |
ORPHA:1473 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... |
OMIM:186000 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Anophthalmia |
OMIM:616428 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Polydactyly, Preaxial Ii |
|
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... |
OMIM:174500 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure, Optic atrophy, Ptosis |
OMIM:620086 |
| Urofacial Syndrome 1 |
|
Enuresis, Hydronephrosis, Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethr... |
OMIM:236730 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Anterior Segment Dysgenesis 3 |
|
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Glaucoma, Posterior embryot... |
OMIM:601631 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
| Acropectoral Syndrome |
|
Abnormal thorax morphology, Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Polydactyly, Postaxial, Type A1 |
|
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... |
OMIM:174200 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Birdshot Chorioretinopathy |
|
Cataract, Vitreous floaters, Ocular hypertension, Abnormal retinal vascular morphology, Epiretina... |
ORPHA:179 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, EEG abnormality, Peripheral vitreous opacities, Optic nerve hypoplasia, Un... |
ORPHA:137902 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Coloboma, Ocular, Autosomal Dominant |
|
Vesicoureteral reflux, Optic nerve aplasia, Morning glory anomaly, Microphthalmia, Chorioretinal ... |
OMIM:120200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
| Glaucoma 3, Primary Congenital, A |
|
Buphthalmos, Late onset congenital glaucoma |
OMIM:231300 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... |
OMIM:309300 |
| Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
| Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Ectopia pupillae, Clinodactyly, Astigmatism, Persistence of primary teeth, Enamel hypop... |
OMIM:618727 |
| Retinitis Pigmentosa |
|
Cataract, Conductive hearing impairment, Hypogonadism, Abnormal retinal vascular morphology, Hypo... |
ORPHA:791 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal atrophy, Cone/cone-rod dystrophy, Metaphyseal irregularity, Bowing of the legs, Short pha... |
ORPHA:85167 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Microphthalmia, Abnorma... |
OMIM:251270 |
| Vesicoureteral Reflux 3 |
|
Recurrent urinary tract infections, Hydronephrosis, Grade IV vesicoureteral reflux, Hydroureter, ... |
OMIM:613674 |
| Trisomy 13 |
|
Abnormal morphology of female internal genitalia, Abnormal retinal vascular morphology, Multiple ... |
ORPHA:3378 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Ventricul... |
ORPHA:2345 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... |
OMIM:601331 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Neovascular Glaucoma |
|
Abnormal uvea morphology, Retinal vascular proliferation, Retinal detachment, Abnormal anterior c... |
ORPHA:94058 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... |
OMIM:620056 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Renal Hypodysplasia/Aplasia 3 |
|
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... |
OMIM:617805 |
| Aniridia 1 |
|
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Retinal vascular tortuosity, Ectopia lentis,... |
OMIM:106210 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Abnormal optic disc morphology, Underdeveloped superior crus of antihelix, Decreased testicular s... |
ORPHA:293967 |
| Caudal Duplication |
|
Spina bifida, Myelomeningocele, Renal hypoplasia/aplasia, Abnormal penis morphology, Ureteral dup... |
ORPHA:1756 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Severe sensorineural hearing impairment, Abnormal pinna morphology, Optic disc pallor, Small pitu... |
OMIM:614195 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
| Coats Disease |
|
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... |
ORPHA:190 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Abnormality of the bladder, Hypoplasia of penis, Patent ductus arteriosus, Abnormali... |
ORPHA:2547 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Iris coloboma, Uveitis, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Sha... |
OMIM:221900 |
| Leber Congenital Amaurosis 1 |
|
Cataract, Eye poking, Pigmentary retinopathy, Fundus atrophy, Hyperthreoninuria, Keratoconus, Sen... |
OMIM:204000 |
| Diaphanospondylodysostosis |
|
Enlarged thorax, Absent or minimally ossified vertebral bodies, Short neck, Missing ribs, Multipl... |
ORPHA:66637 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Cryptorchidism, Short thumb, Abnormal antihelix morphology, Hearing impairment, Chorior... |
OMIM:274205 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Donnai-Barrow Syndrome |
|
Cataract, Broad nasal tip, Low-set ears, Proteinuria, Iris coloboma, Short nose, Retinal detachme... |
OMIM:222448 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Nephrolithiasis, Vesicoureteral reflux |
OMIM:617219 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Scoliosis, Ventricular septal defect, Short neck, Fused cervical vertebrae, Sprengel anomaly, Cer... |
OMIM:214300 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... |
OMIM:174700 |
| Glaucoma 1, Open Angle, A |
|
Abnormal iris vasculature, Glaucoma |
OMIM:137750 |
| Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Short neck, Microphthalmia, Narrow chest, Pericardi... |
OMIM:613885 |
| Norrie Disease |
|
Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Microphthalmia, Shallow anterior chambe... |
OMIM:310600 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system |
ORPHA:2669 |
| Tetralogy Of Fallot And Glaucoma |
|
Developmental glaucoma |
OMIM:187501 |
| Cofs Syndrome |
|
Cataract, Camptodactyly of finger, Abnormal nasal morphology, Hypogonadism, Death in infancy, Mic... |
ORPHA:1466 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Cryptorchidism, Optic nerve aplasia, Micropenis, Anterior pituitary hypoplasia, Bilater... |
OMIM:206900 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Thoracic Dysostosis, Isolated |
|
Short ribs, Pectus excavatum, Bell-shaped thorax |
OMIM:187750 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Chorioretinal dysplasia, Broad nasal tip, Depressed nasal bridge, Protruding ear, Astig... |
OMIM:152950 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Miosis, Microphthalmia |
OMIM:156850 |
| Retinitis Pigmentosa 42 |
|
Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Cystoid macu... |
OMIM:612943 |
| Stickler Syndrome Type 2 |
|
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Sensorineural ... |
ORPHA:90654 |
| Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Microphthalmia, Anterior synechiae of the anterior chamber, Hypoplasia o... |
OMIM:604229 |
| Leber Congenital Amaurosis 2 |
|
Cataract, Eye poking, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Att... |
OMIM:204100 |
| Wagner Vitreoretinopathy |
|
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... |
OMIM:143200 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Insulinomatosis And Diabetes Mellitus |
|
Developmental cataract, Developmental glaucoma |
OMIM:147630 |
| Nance-Horan Syndrome |
|
Cataract, Prominent nasal bridge, Protruding ear, Mandibular prognathia, Retinal detachment, Shor... |
ORPHA:627 |
| Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
| Peters Anomaly |
|
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... |
ORPHA:708 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... |
OMIM:617315 |
| Stickler Syndrome, Type Ii |
|
Cataract, Retinal detachment, Anteverted nares, Long fingers, Abnormal vitreous humor morphology,... |
OMIM:604841 |
| Oculofaciocardiodental Syndrome |
|
Short thumb, Hearing impairment, Ectopia lentis, Iris coloboma, Bifid nasal tip, Microphthalmia, ... |
ORPHA:2712 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Cataract, Rod-cone dystrophy, Hearing impairment |
OMIM:300719 |
| Prune Belly Syndrome |
|
Patent ductus arteriosus, Hydronephrosis, Congenital posterior urethral valve, Hydroureter |
OMIM:100100 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Microcoria, Congenital |
|
Hypoplasia of the iris dilator muscle, Miosis, Glaucoma, Microcoria |
OMIM:156600 |
| Autosomal Recessive Stickler Syndrome |
|
Cataract, Vitreoretinopathy, Astigmatism, Retinal detachment, Abnormal epiphysis morphology, Sens... |
ORPHA:250984 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M... |
OMIM:617641 |
| Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
| Congenital Rubella Syndrome |
|
Cataract, Abnormal metaphysis morphology, Microphthalmia, Abnormality of retinal pigmentation, Se... |
ORPHA:290 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney |
OMIM:602200 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology, Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Cataract, Cerulean cataract, Posterior cortical cataract, Limited elbow extension, Anterior subca... |
ORPHA:67036 |
| Walker-Warburg Syndrome |
|
Cataract, Chorioretinal dysplasia, Cryptorchidism, Low-set ears, Iris coloboma, Protruding ear, P... |
ORPHA:899 |
| Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... |
OMIM:610202 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
| Metatropic Dysplasia |
|
Relatively short spine, Flared iliac wing, Halberd-shaped pelvis, Metaphyseal irregularity, Hyper... |
OMIM:156530 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Postaxial foot polydactyly, Cryptorchidism, Iris coloboma, Proximal placement of thumb,... |
ORPHA:139471 |
| Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Cataract, Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morpho... |
ORPHA:1856 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Iris coloboma, Short nose, Retinal detachment, Posteriorly rotated ears, Wide anteri... |
ORPHA:2143 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Metaphyseal widening, Isosexual precocious puberty, Retinal detachment, Abnormal femoral neck/hea... |
ORPHA:2788 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal hip bone morphology, Syndactyly, Abnormal heart morphology, Upper limb phoc... |
ORPHA:294975 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Short neck, Abnormality of the ureter, Kyphosis, Abnormal rib morphology, Abnor... |
ORPHA:2522 |
| Retinal Dystrophy And Obesity |
|
Peripapillary atrophy, Astigmatism, Retinal detachment, Retinal dots, Attenuation of retinal bloo... |
OMIM:616188 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Subcapsular cataract, Abnormality of the ear, Polycystic ovaries, Pigmentary retinopathy, Hypergo... |
OMIM:268020 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... |
OMIM:225200 |
| Santos Syndrome |
|
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... |
OMIM:613005 |
| Prune Belly Syndrome |
|
Recurrent urinary tract infections, Abnormality of the ureter, Hydroureter, Renal insufficiency, ... |
ORPHA:2970 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
| Bresek Syndrome |
|
Decreased testicular size, Cryptorchidism, Low-set ears, Iris coloboma, Protruding ear, Hypoplasi... |
ORPHA:85284 |
| Diabetic Embryopathy |
|
Hydronephrosis, Spinal dysraphism, Micropenis, Renal hypoplasia/aplasia, Ureteral duplication |
ORPHA:1926 |
| Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Cataract,... |
ORPHA:891 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Cataract, Broad nasal tip, Retrognathia, Retinal telangiectasia, Retinal detachment, Mandibular p... |
OMIM:620157 |
| Retinitis Pigmentosa 86 |
|
Cortical cataract, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:618613 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
| Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Astigmatism, Retinal detachment, Optic disc pallor, Abnormality of macul... |
OMIM:300476 |
| Retinitis Pigmentosa 13 |
|
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... |
OMIM:600059 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... |
OMIM:610805 |
| Cockayne Syndrome B |
|
Death in childhood, Square pelvis bone, Pigmentary retinopathy, Abnormal auditory evoked potentia... |
OMIM:133540 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Subcapsular cataract, Decreased nerve conduction velocity, Intention tremor, Sensorineu... |
OMIM:612674 |
| Wagr Syndrome |
|
Cataract, Cryptorchidism, Ambiguous genitalia, Hearing abnormality, Micrognathia, Aplasia/Hypopla... |
ORPHA:893 |
| Knobloch Syndrome 1 |
|
Hydronephrosis, Peripapillary atrophy, Bifid ureter, Renal duplication, Vitreoretinopathy, Iris t... |
OMIM:267750 |
| Leber Congenital Amaurosis 4 |
|
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Attenuation of retinal ... |
OMIM:604393 |
| Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Hearing impairment, Tremor, Optic atrophy |
OMIM:165300 |
| Kyphomelic Dysplasia |
|
Lateral clavicle hook, Joint stiffness, Flat acetabular roof, Missing ribs, Anterior rib cupping,... |
ORPHA:1801 |
| Stickler Syndrome Type 1 |
|
Cataract, Short nose, Retinal detachment, Abnormal epiphysis morphology, Abnormality of vertebral... |
ORPHA:90653 |
| Distal Deletion 6P |
|
Ectopia pupillae, Low-set ears, Underdeveloped nasal alae, Abnormal anterior chamber morphology, ... |
ORPHA:96125 |
| Thoracomelic Dysplasia |
|
Abnormality of fibula morphology, Abnormal metaphysis morphology, Limb undergrowth, Short ribs, B... |
ORPHA:1803 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Tubulointerst... |
OMIM:613092 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Cataract, Hypopigmentation of the fundus, Oligosacchariduria, Short nose, Retinal detachment, Fla... |
ORPHA:163649 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis, Patent ductus arteriosus |
OMIM:618845 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Cataract, Hearing impairment, Abnormality of retinal pigmentation... |
ORPHA:65 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Exudative Vitreoretinopathy 6 |
|
Cataract, Retinal exudate, Cortical cataract, Retinal detachment, Tractional retinal detachment, ... |
OMIM:616468 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Horseshoe kidney, Hearing impairment, Abnormality of the middle ear, Toe... |
ORPHA:2092 |
| Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Ocular hypertension, Increased cup-to-disc ratio |
OMIM:618880 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Macular atrophy, Optic disc pallor, Microphthalmia, Micrognathia, Prominent nose, Retin... |
OMIM:616171 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
| Uveal Melanoma |
|
Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Inferior lens subluxation |
ORPHA:39044 |
| Galloway-Mowat Syndrome 1 |
|
Hand clenching, Joint contracture of the hand, Dystonia, Proteinuria, Camptodactyly, Microphthalm... |
OMIM:251300 |
| Norrie Disease |
|
Protruding ear, Abnormal retinal vascular morphology, EEG abnormality, Aplasia/Hypoplasia of the ... |
ORPHA:649 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormal sc... |
ORPHA:2141 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Abnormality of the kidney, Calcaneovalgus deformity, Bilateral sensorineural hearing impairment, ... |
ORPHA:521445 |
| Stickler Syndrome, Type V |
|
Cataract, Vitreoretinopathy, Retinal detachment, Sensorineural hearing impairment |
OMIM:614284 |
| Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity, Hearing impairment |
ORPHA:351 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short middle phalanx... |
OMIM:617927 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Autosomal Dominant Keratitis |
|
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... |
ORPHA:2334 |
| Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Microphakia, Phthisis bulbi, Ocular hypertension, Rod-cone dystrophy, Oc... |
OMIM:612109 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Thoracic dysplasia, Lateral clavicle hook, Ambiguous genitalia, Preaxial polydactyly, Postaxial p... |
OMIM:615503 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Death in childhood, Retinal detachment, Microphthalmia, Corneal opacity, Coloboma |
OMIM:613153 |
| Spondylocostal Dysostosis 5 |
|
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missing ribs, Hemive... |
OMIM:122600 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Iris coloboma, Hip dysplasia, Renal hypoplasia/aplasia, Microphthalmia, Hearing i... |
ORPHA:195 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Ventricular septal defect, Atrial septal defect, Left ventri... |
ORPHA:860 |
| Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Renal dysplasia, Renal agenesis |
OMIM:615993 |
| Posterior Polymorphous Corneal Dystrophy |
|
Ectopia pupillae, Ocular hypertension, Astigmatism, Anterior synechiae of the anterior chamber, C... |
ORPHA:98973 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Choroideremia, Retinal nonattachment, Vitelliform-like macular lesions |
ORPHA:99000 |
| Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
| Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:614497 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae, Microphthalmia |
OMIM:156900 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Caudal Regression Syndrome |
|
Arrhinencephaly, Ectopic kidney, Abnormality of the ureter, Renal insufficiency, Ureteral duplica... |
ORPHA:3027 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cataract, Retinal detachment, Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
| Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Corneal stromal edema, Ocular hypertension, Increased cup-to-disc ratio |
OMIM:617272 |
| Preaxial Hallucal Polydactyly |
|
Diabetes mellitus, Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
| Papillorenal Syndrome |
|
Horseshoe kidney, Multicystic kidney dysplasia, Proteinuria, Chronic kidney disease, Macular dege... |
OMIM:120330 |
| Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Achondrogenesis Type 2 |
|
Cataract, Hypoplastic ilia, Retinal detachment, Hearing impairment, Delayed proximal femoral epip... |
ORPHA:93296 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Renal cyst, Renal dysplasia, Ureteral agenesis, Renal hypoplasia |
OMIM:236500 |
| Pierson Syndrome |
|
Cataract, Death in childhood, Proteinuria, Retinal vascular tortuosity, Hypopigmentation of the f... |
OMIM:609049 |
| Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
| Bardet-Biedl Syndrome 5 |
|
Micropenis, Polydactyly, External genital hypoplasia, Hypogonadism, Syndactyly, Brachydactyly |
OMIM:615983 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Iris coloboma, Syndactyly, Microphthalmia, Hearing impairment, Brachydactyly, Coloboma, Clinodact... |
OMIM:610023 |
| Spondylo-Ocular Syndrome |
|
Cataract, Low-set ears, Iris hypopigmentation, Abnormal antihelix morphology, Retinal detachment,... |
ORPHA:85194 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Hypoplastic ilia, Lateral clavicle hook, Ambiguous genitali... |
OMIM:617895 |
| 14Q22Q23 Microdeletion Syndrome |
|
Cryptorchidism, Optic nerve aplasia, Bilateral single transverse palmar creases, Underdeveloped n... |
ORPHA:264200 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Duane Retraction Syndrome |
|
Optic disc hypoplasia, Hearing impairment, Preaxial hand polydactyly, Hypoplasia of the radius, T... |
ORPHA:233 |
| Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Short ribs, Metaphyseal widening, Bel... |
OMIM:614524 |
| Cataract 10, Multiple Types |
|
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Biemond Syndrome Type 2 |
|
Delayed puberty, Hypogonadism, Preaxial polydactyly, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
| Axial Spondylometaphyseal Dysplasia |
|
Acromesomelia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, P... |
ORPHA:168549 |
| Asperger syndrome susceptibility, X-linked 2 |
|
Abnormal repetitive mannerisms |
OMIM:300497 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Abnormal repetitive mannerisms |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Abnormal repetitive mannerisms |
OMIM:608631 |
| Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Broad nasal tip, Short metatarsal, Hearing impairment, Elevated circulating thyroid-stimulating h... |
OMIM:101800 |
| Poland Syndrome |
|
Dextrocardia, Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomaly, Rib fusion |
OMIM:173800 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Irregular chondrocostal junctions, Metaphyseal widening, Short ribs, Hypoplastic... |
OMIM:187760 |
| Leber Congenital Amaurosis 8 |
|
Cataract, Eye poking, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atr... |
OMIM:613835 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... |
OMIM:614377 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Umbilical hernia, Microphthalmia, Aplasia of the... |
OMIM:615297 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Hypoplastic ilia, Hip dislocation, Genu varum, Proximal placement of thumb, S... |
OMIM:613330 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Ectopia pupillae, 3-4 finger syndactyly, Microphthalmia, Sclerocornea, 2-3 toe syndacty... |
OMIM:615877 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly, Hypogonadism |
OMIM:615988 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Homocystinuria, Shallow anterior chamber, Ocular hypertension, Ectopia lentis, Microphthalmia, Co... |
OMIM:601552 |
| Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
| Smith-Magenis Syndrome |
|
Chronic otitis media, EEG abnormality, Toe syndactyly, Abnormal repetitive mannerisms, Brachydact... |
ORPHA:819 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Angle closure glaucoma, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Sha... |
ORPHA:91495 |
| Joint Laxity, Short Stature, And Myopia |
|
Iris coloboma, Retinal detachment, Hearing impairment, Chorioretinal coloboma, Talipes equinovarus |
OMIM:617662 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Short middle phalanx of finger, Fu... |
ORPHA:1436 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Hydronephrosis, Urogenital sinus anomaly, Hydroureter, Renal hypoplasia/aplasia, Abnormality of t... |
ORPHA:2973 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal ... |
ORPHA:1475 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Proximal placement of thumb, Ventricular septal defect, Abnormal ... |
ORPHA:93267 |
| Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Subcapsular cataract, Abnormal macular morphology, Hearing impairment, Chorioretinal hy... |
ORPHA:414 |
| Megalocornea-Intellectual Disability Syndrome |
|
Protruding ear, Genu varum, Megalocornea, Astigmatism, Iridodonesis, EEG abnormality, Abnormal an... |
ORPHA:2479 |
| Micro Syndrome |
|
Cataract, Hydronephrosis, Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal localizatio... |
ORPHA:2510 |
| Bladder Exstrophy And Epispadias Complex |
|
Horseshoe kidney, Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy |
OMIM:600057 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis, Increased axial length of the globe |
OMIM:110150 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Femoral-Facial Syndrome |
|
Polycystic kidney dysplasia, Abnormal sacrum morphology, Scoliosis, Renal hypoplasia/aplasia, Mic... |
ORPHA:1988 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus excavatum, Short ribs, Missing ribs, Pectus carinatum, Pseudoarthrosis |
OMIM:618155 |
| Knobloch Syndrome |
|
Vesicoureteral reflux, Occipital encephalocele, Bifid ureter, Patent ductus arteriosus |
ORPHA:1571 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Thoracic dysplasia, Horizontal ribs, Cryptorchidism, Lateral clavicle hook, Postaxial polydactyly... |
OMIM:615633 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Short 1st metacarpal, Short thumb, Short neck, Horseshoe kidney, Ventr... |
OMIM:609053 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Anophthalmia |
OMIM:611638 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Cryptorchidism, Ectopic kidney, Optic disc pallor, Death in infancy, Microphthalmia, Ne... |
OMIM:613730 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Patent ductus arteriosus, Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease |
OMIM:617661 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Abnormal m... |
ORPHA:1354 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Micropenis, Patent ductus arteriosus, Hypospadias |
OMIM:617516 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Syncope, Right ventricular hypertrophy, Angina pectoris, Right v... |
OMIM:265400 |
| Leber Congenital Amaurosis 9 |
|
Macular atrophy, Eye poking, Retinal pigment epithelial mottling, Optic disc pallor, Macular colo... |
OMIM:608553 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Megalocornea, Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Abnormality i... |
ORPHA:370959 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Cystic renal dysplasia, Hydroureter |
OMIM:615989 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Scoliosis, Short neck, Unilateral renal agenesis, Abnormal rib morphol... |
OMIM:118100 |
| Cataract 1, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract |
OMIM:116200 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... |
OMIM:614292 |
| Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment |
OMIM:618915 |
| Short Syndrome |
|
Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Hypoplasia of the ... |
ORPHA:3163 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Prominent nasal bridge, Optic disc hypoplasia, Protruding ear, Abnormal helix morphology, Optic n... |
ORPHA:401777 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Hypoplasia of the iris, Optic disc coloboma, Male pseudohermaphroditism, Short ... |
OMIM:600092 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Low-set ears, Iris coloboma, Retinal detachment, Microphthalmia, Macular coloboma, Sclerocornea, ... |
OMIM:615145 |
| Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Subcapsular cataract, Retinal exudate, Tractional retinal de... |
OMIM:601813 |
| Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis |
ORPHA:1046 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,... |
OMIM:614723 |
| Microphthalmia, Lenz Type |
|
Cataract, Hydronephrosis, Low-set, posteriorly rotated ears, Cryptorchidism, External ear malform... |
ORPHA:568 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Hypoplasia of the iris, Chorioretinal coloboma, Macrotia, Abn... |
ORPHA:1422 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Microphthalmia, Neonatal death, Micrognathia, Hypoplastic left atrium,... |
OMIM:615524 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Warburg Micro Syndrome 1 |
|
Low-set ears, Cryptorchidism, External genital hypoplasia, Overlapping toe, Microphthalmia, Antev... |
OMIM:600118 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormally prominent line of Schwalbe, Hip dislocation, Coxa valga, Abnormal auditory evoked pote... |
OMIM:109120 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Hypertension, Pulmonary aterial ... |
OMIM:178600 |
| Wolfram Syndrome 1 |
|
Hydroureter, Neurogenic bladder, Hydronephrosis |
OMIM:222300 |
| Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Pulverulent cataract, Pigmentary retinopathy, Retinal ... |
OMIM:193220 |
| Atresia Of Urethra |
|
Recurrent urinary tract infections, Hydronephrosis, Megacystis, Hydroureter, Patent urachus, Rena... |
ORPHA:105 |
| Microphthalmia, Isolated 6 |
|
Retinal fold, Ocular hypertension, Microcornea, Microphthalmia |
OMIM:613517 |
| Brittle Cornea Syndrome |
|
Camptodactyly, Conductive hearing impairment, Hip dysplasia, Hallux valgus, Keratoglobus, Corneal... |
ORPHA:90354 |
| Thauvin-Robinet-Faivre Syndrome |
|
Bifid ureter, Renal cyst, Renal dysplasia, Renal malrotation, Nephroblastoma |
OMIM:617107 |
| Morm Syndrome |
|
Cataract, Hyperactivity, Retinal atrophy, Aggressive behavior, Retinal dystrophy |
ORPHA:75858 |
| Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Knobloch Syndrome 2 |
|
Vitreous floaters, Vitreoretinopathy, Retinal detachment, Enamel hypoplasia, Anterior cortical ca... |
OMIM:618458 |
| Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Broad toe, Preaxial foot poly... |
OMIM:186350 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Scoliosis, Thoracic hemivertebrae, Short middle phalanx of finger, Fused... |
OMIM:309620 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Scoliosis, Hip dislocation, Abnormality of the kidney, Genu varum, Tetralogy of Fallot, Horseshoe... |
ORPHA:3320 |
| Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Hinman Syndrome |
|
Enuresis, Hydronephrosis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... |
ORPHA:84085 |
| Microphthalmia, Isolated 5 |
|
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Microphthalmia, Bone spicule pi... |
OMIM:611040 |
| Microphthalmia, Syndromic 5 |
|
Cataract, Cryptorchidism, Micropenis, Optic nerve hypoplasia, Microphthalmia, Ectopic posterior p... |
OMIM:610125 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Low-set ears, Cryptorchidism, Retinal atrophy, Megalocornea, Retinal detachment, Atresi... |
OMIM:236670 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Exudative Vitreoretinopathy 1 |
|
Peripheral retinal avascularization, Vitreous floaters, Subcapsular cataract, Retinal exudate, Re... |
OMIM:133780 |
| Dubowitz Syndrome |
|
Single transverse palmar crease, Broad nasal tip, Cryptorchidism, Low-set ears, Prominent nasal b... |
OMIM:223370 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Death in childhood, Low-set ears, Retrognathia, Retinal detachment, Death in infancy, O... |
OMIM:614643 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kid... |
OMIM:615382 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hemivertebrae, 11 p... |
ORPHA:77298 |
| Meckel Syndrome |
|
Ambiguous genitalia, Urethral atresia, Preaxial hand polydactyly, Aplasia/Hypoplasia of the iris,... |
ORPHA:564 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cataract, Depressed nasal bridge, Hip dysplasia, Short nose, Retinal detachment, Posteriorly rota... |
OMIM:619833 |
| Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
