Select Entries from OMIM -- Online Mendelian Inheritance in Man

109 entries found, searching for "congenital cataracts"

*604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
601088 CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION
271320 SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA
183800 SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS
#600886 HYPERFERRITINEMIA-CATARACT SYNDROME
*302200 CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; CCT
*212500 CATARACT, CONGENITAL OR JUVENILE
300166 OCULOFACIOCARDIODENTAL SYNDROME
*602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3
#601547 CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2
*115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1
150220 LACTOSE INTOLERANCE, CONGENITAL
*305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
*160900 DYSTROPHIA MYOTONICA
120040 COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS
*121390 CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS
*156850 MICROPHTHALMIA-CATARACT
116700 CATARACT, TOTAL CONGENITAL; CC
*106210 PAIRED BOX GENE 6; PAX6
#600881 CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS
600559 HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS
*310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1
*180380 RHODOPSIN; RHO
#601675 TRICHOTHIODYSTROPHY; TTD
#604278 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH BILATERAL GLAUCOMA, CATARACTS, AND BAND KERATOPATHY
225740 ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS
#268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME
302300 CATARACT, CONGENITAL, WITH MICROCORNEA OR SLIGHT MICROPHTHALMIA
234100 HALLERMANN-STREIFF SYNDROME; HSS
*115665 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV
#110800 BLOOD GROUP--I SYSTEM; Ii
#116200 CATARACT, ZONULAR PULVERULENT 1; CZP1
#215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
*123580 CRYSTALLIN, ALPHA-A; CRYAA
*120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1
*261600 PHENYLKETONURIA
*248800 MARINESCO-SJOGREN SYNDROME; MSS
*115650 CATARACT, ANTERIOR POLAR, 1; CTAA1
*302350 CATARACT-DENTAL SYNDROME
#270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS
#141750 HEMOGLOBIN H-RELATED MENTAL RETARDATION
*236670 WALKER-WARBURG SYNDROME
*182500 SORBITOL DEHYDROGENASE; SORD
*143200 HYALOIDEORETINAL DEGENERATION OF WAGNER
*212350 CATARACT AND CARDIOMYOPATHY
*116800 CATARACT, ZONULAR
#115700 CATARACT, CRYSTALLINE ACULEIFORM OR FROSTED
*127000 KENNY-CAFFEY SYNDROME, TYPE 2
*275630 TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION
*123620 CRYSTALLIN, BETA-B2; CRYBB2
#154700 MARFAN SYNDROME; MFS
212700 CATARACT, NUCLEAR TOTAL
*256550 NEURAMINIDASE DEFICIENCY
*218900 CROME SYNDROME
#108300 STICKLER SYNDROME, TYPE I; STL1
#192430 VELOCARDIOFACIAL SYNDROME
*116150 CATARACT-MICROCORNEA SYNDROME
*153640 FECHTNER SYNDROME; FTNS
*166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
#166210 OSTEOGENESIS IMPERFECTA CONGENITA; OIC
*230400 GALACTOSEMIA
*118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT
#136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
*101000 NEUROFIBROMATOSIS, TYPE II; NF2
*604313 GALACTOKINASE 1; GALK1
603807 PETERS ANOMALY WITH CATARACT
#312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
251290 PSEUDO-TORCH SYNDROME
*274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME
#308940 LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY
#277450 VITAMIN K-DEPENDENT COAGULATION DEFECT
#268400 ROTHMUND-THOMSON SYNDROME; RTS
247410 LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME
*231680 GLUTARICACIDURIA IIA
*251270 MICROCEPHALY WITH CHORIORETINOPATHY
*256520 NEU-LAXOVA SYNDROME; NLS
#214100 ZELLWEGER SYNDROME; ZS
*218040 COSTELLO SYNDROME
212360 CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME; CASS
211770 CAHMR SYNDROME
*236800 HYDROXYKYNURENINURIA
208870 ATAXIA-MICROCEPHALY-CATARACT SYNDROME
*134790 FERRITIN LIGHT CHAIN; FTL
*206700 ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY
191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY
#171300 PHEOCHROMOCYTOMA
309700 MICROPHTHALMIA
#302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
*123610 CRYSTALLIN, BETA-A1; CRYBA1
600118 WARBURG MICRO SYNDROME
*601815 3-@PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
#154780 MARSHALL SYNDROME
*170993 PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3
270240 SKELETAL DYSPLASIA WITH TELANGIECTASES AND MESODERMAL DYSGENESIS OF THE IRIS
*216400 COCKAYNE SYNDROME, TYPE I; CKN1
160550 MYOPATHY, MITOCHONDRIAL, WITH CATARACT
600373 CODAS SYNDROME
*258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY
*251170 MEVALONATE KINASE; MVK
601371 NUCLEAR SCLEROSIS OF THE LENS
#601539 PEROXISOME BIOGENESIS DISORDERS; PBD
*121015 GAP JUNCTION PROTEIN, ALPHA-3; GJA3
*120280 COLLAGEN, TYPE XI, ALPHA-1; COL11A1
#156550 KNIEST DYSPLASIA
*113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGING
*249000 MECKEL SYNDROME, TYPE 1; MKS1
#106200 ANIRIDIA; AN1
*214110 CEREBROHEPATORENAL SYNDROME, VARIANT TYPES
*170995 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3; ABCD3