| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| 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 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract, Joint hyperflexibility |
ORPHA:35664 |
| Brachydactyly, Type C |
|
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... |
OMIM:113100 |
| Syndactyly Type 2 |
|
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... |
ORPHA:93403 |
| 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 |
| Gombo Syndrome |
|
Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger |
OMIM:233270 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Facial cleft |
OMIM:600776 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract |
OMIM:121900 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Syndactyly, Type Iv |
|
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... |
OMIM:186200 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Brachycephaly, Facial cleft |
OMIM:613456 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Frontal bossing, Bilateral micropht... |
OMIM:607597 |
| Synpolydactyly 1 |
|
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... |
OMIM:186000 |
| Acrocephalopolysyndactyly Type Iv |
|
Clinodactyly, Syndactyly, Hand polydactyly, Oxycephaly, Ulnar deviation of the hand or of fingers... |
OMIM:201020 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Polydactyly, Preaxial Ii |
|
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... |
OMIM:174500 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Talipes equinovarus, Edema, Microphthalmia |
OMIM:616570 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Postaxial hand polydactyly, Brachycephaly, Facial cleft |
ORPHA:66625 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Meckel Syndrome, Type 8 |
|
Anophthalmia, Polydactyly, Microphthalmia, Postaxial hand polydactyly, Talipes equinovarus |
OMIM:613885 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Aplasia/Hypoplasia affecting the eye, Adducted thumb, Camptodactyly of finger, Abn... |
ORPHA:1794 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
| Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1377 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Anophthalmia, Single transverse palmar crease, Hand oligodactyly, Postaxial foot ... |
OMIM:206920 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia, Deviation of finger, Facial cleft |
ORPHA:1104 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Abnormality of calvarial morphology, Abnormality of the fontanelles or cranial su... |
ORPHA:2432 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Camptosynpolydactyly, Complex |
|
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly |
OMIM:607539 |
| Congenital Radioulnar Synostosis |
|
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... |
ORPHA:3269 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Cataract 1, Multiple Types |
|
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... |
OMIM:116200 |
| Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly |
OMIM:174200 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Ectopia lentis, Primary congenital glaucoma |
OMIM:613086 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Facial cleft |
OMIM:600251 |
| Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Prominent metopic ridge, Brachycephaly, Trigonocephaly, Broad phalanx, Broad metatarsal |
OMIM:275595 |
| Acrofacial Dysostosis, Weyers Type |
|
Clinodactyly of the 5th finger, Overlapping fingers, Postaxial hand polydactyly, Small hand, Faci... |
ORPHA:952 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
| Santos Syndrome |
|
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... |
OMIM:613005 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly |
OMIM:617405 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Cataract 15, Multiple Types |
|
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract |
OMIM:615274 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... |
ORPHA:1505 |
| X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Cataract 10, Multiple Types |
|
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract |
OMIM:600881 |
| Frontofacionasal Dysplasia |
|
Microphthalmia, Facial cleft, Brachycephaly, Midface retrusion |
ORPHA:1791 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea |
OMIM:613703 |
| Microphthalmia, Isolated 3 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Microphthalmia, Anophthalmia |
OMIM:221950 |
| Mosaic Trisomy 9 |
|
Prominent occiput, Biparietal narrowing, Rocker bottom foot, Hydrops fetalis, Elbow dislocation, ... |
ORPHA:99776 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Tapered finger, Microphthalmia, Frontal bossing, Brachycephaly, Broad thumb, Camptodactyly of fin... |
ORPHA:1236 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Fibular Hemimelia |
|
Fibular hypoplasia, Abnormal morphology of ulna, Short tibia, Short toe, Arthralgia of the hip, G... |
ORPHA:93323 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Mmep Syndrome |
|
Microphthalmia, Triphalangeal thumb, Split foot |
ORPHA:3434 |
| Carpenter Syndrome |
|
Brachydactyly, Toe syndactyly, Craniosynostosis, Finger syndactyly, Preaxial foot polydactyly, Po... |
ORPHA:65759 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Aniridia 2 |
|
Cataract, Aniridia |
OMIM:617141 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma |
OMIM:604219 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Megalocornea |
|
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... |
OMIM:309300 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Anterior Segment Dysgenesis 8 |
|
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... |
OMIM:617319 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... |
OMIM:618167 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly |
ORPHA:294975 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachydactyly, Metacarpal synostosis, Brachycephaly, Midface retrusion |
ORPHA:35099 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract |
OMIM:601547 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Congenital hip disloca... |
ORPHA:1647 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Short femur, Facial cleft |
OMIM:601357 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Small thenar eminence, Short 5th finger, 2-3 toe syndactyly, Facial cleft |
OMIM:239800 |
| Syndactyly Type 4 |
|
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... |
ORPHA:93405 |
| Bardet-Biedl Syndrome 5 |
|
Brachydactyly, Syndactyly, Polydactyly |
OMIM:615983 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Brachydactyly, Clinodactyly, Microphthalmia, Syndactyly |
OMIM:610023 |
| Cataract 8, Multiple Types |
|
Developmental cataract, Nuclear cataract |
OMIM:115665 |
| Triopia |
|
Dolichocephaly, Midline facial cleft, Abnormality of the fontanelles or cranial sutures, Frontal ... |
ORPHA:3374 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Abnormality of epiphysis morphology, Rhizomelia, Cloverleaf skull, Fron... |
ORPHA:93267 |
| Cataract 22, Multiple Types |
|
Developmental cataract, Nuclear cataract |
OMIM:609741 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
| Trisomy 13 |
|
Abnormality of pelvic girdle bone morphology, Anophthalmia, Hydrops fetalis, Abnormality of the f... |
ORPHA:3378 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Symphalangism affecting the phalanges of the hand, Microphthalmia, Frontal bossing, Polyhydramnio... |
ORPHA:2547 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Congenital hip dislocation |
OMIM:164180 |
| Craniosynostosis And Dental Anomalies |
|
Clinodactyly, Lambdoidal craniosynostosis, Craniosynostosis, 2-3 toe syndactyly, Dolichocephaly, ... |
OMIM:614188 |
| Kahrizi Syndrome |
|
Elbow flexion contracture, Cataract, Iris coloboma, Knee flexion contracture |
OMIM:612713 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Brachycephaly |
ORPHA:2528 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Exfoliation Syndrome |
|
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... |
OMIM:177650 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Long fingers, Hand cl... |
ORPHA:1617 |
| Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Cataract, Arthrogryposis multiplex congenita |
OMIM:212540 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Trisomy 1Q |
|
Toe syndactyly, Anophthalmia, Hydrops fetalis, Arachnodactyly, Frontal bossing, Preaxial hand pol... |
ORPHA:261344 |
| Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
| Osteomalacia, sclerosing, with cerebral calcification |
|
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia |
OMIM:259660 |
| Mycophenolate Mofetil Embryopathy |
|
Foot polydactyly, Short palm, Hydrops fetalis, Microphthalmia, Facial cleft |
ORPHA:268249 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Acrofacial Dysostosis, Catania Type |
|
Brachydactyly, Finger syndactyly, Short palm, Clinodactyly of the 5th finger, Small hand, Bilater... |
ORPHA:1786 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Elbow flexion contracture, Cataract, Iris coloboma, Knee flexion contracture |
ORPHA:171860 |
| Congenital Varicella Syndrome |
|
Micromelia, Microphthalmia |
ORPHA:291 |
| Curry-Jones Syndrome |
|
Toe syndactyly, Craniosynostosis, Foot polydactyly, Finger syndactyly, Microphthalmia, Preaxial h... |
ORPHA:1553 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Polydactyly |
OMIM:605231 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Cataract, Increased bone density with cystic cha... |
OMIM:136300 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Finger syndactyly, Postaxial foot polydactyly, Microphthalmia, Proximal placement o... |
ORPHA:139471 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... |
ORPHA:2633 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
| Temtamy Syndrome |
|
Brachydactyly, Genu varum, Dolichocephaly, Clinodactyly of the 5th finger, Microphthalmia, Short toe |
ORPHA:1777 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Posterior plagiocephaly, Rhizomelic arm shortening, Abnormally large globe, Polyhydramnios, Abnor... |
ORPHA:96190 |
| Cataract 5, Multiple Types |
|
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract |
OMIM:116800 |
| Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:300064 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Polyhydramnios, Abnormal morphology of the radius |
ORPHA:3469 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly |
OMIM:605967 |
| Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly |
OMIM:615984 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Hydrolethalus |
|
Anophthalmia, Micromelia, Microphthalmia, Polyhydramnios, Postaxial hand polydactyly |
ORPHA:2189 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Microphthalmia, Hypop... |
OMIM:300863 |
| Hyperferritinemia With Or Without Cataract |
|
Pulverulent cataract, Nuclear cataract |
OMIM:600886 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... |
OMIM:608180 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Reduced bone mineral density, Cataract, Osteoporosis, Recurrent fractures |
ORPHA:2410 |
| Summitt Syndrome |
|
Brachydactyly, Plagiocephaly, Craniosynostosis, Finger syndactyly, Short palm, Short 4th metacarp... |
ORPHA:3210 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Brachydactyly, Dolichocephaly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Sh... |
OMIM:617102 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Brachydactyly, Pectoral muscle hypoplasia/aplasia, Microphthalmia, Hypoplasia of the frontal bone... |
ORPHA:306542 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Decreased movement range in interphalangeal joints |
OMIM:609115 |
| Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Oligodactyly, Arachnodactyly, Brachycephaly, Humeroradial synostosis |
OMIM:614416 |
| Muenke Syndrome |
|
Brachydactyly, Clinodactyly, Plagiocephaly, Thimble-shaped middle phalanges of hand, Coronal cran... |
OMIM:602849 |
| Cataract 17, Multiple Types |
|
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract |
OMIM:611544 |
| Bartsocas-Papas Syndrome 2 |
|
Prominent occiput, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia, Smal... |
OMIM:619339 |
| Craniosynostosis 2 |
|
Brachydactyly, Craniosynostosis, Triphalangeal thumb, Frontal bossing, Turricephaly, Unicoronal s... |
OMIM:604757 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Cataract |
OMIM:614876 |
| Jackson-Weiss Syndrome |
|
Craniosynostosis, 2-3 toe syndactyly, Broad hallux, Midface retrusion, Calcaneonavicular fusion, ... |
OMIM:123150 |
| Pierpont Syndrome |
|
Short palm, Broad palm, Midface retrusion, Microphthalmia, Deep palmar crease, Short finger, Shor... |
OMIM:602342 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Flattened epiphysis, Abnormality of cranial sutures, Coxa valga, Anterior plagioc... |
ORPHA:163649 |
| Anterior Segment Dysgenesis 7 |
|
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos |
OMIM:269400 |
| Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus |
OMIM:614303 |
| Jackson-Weiss Syndrome |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, 2-3 toe syndactyly, Abnormalit... |
ORPHA:1540 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Abnormal thumb morphology |
OMIM:614082 |
| Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea |
OMIM:609218 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Toe syndactyly, Polyhydramnios, Finger syndactyly |
ORPHA:261272 |
| Cataract 30, Multiple Types |
|
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract |
OMIM:116300 |
| Microphthalmia With Limb Anomalies |
|
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Short ... |
ORPHA:1106 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Peters Anomaly |
|
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... |
ORPHA:708 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos, Hip dislocation |
OMIM:608763 |
| Curry-Jones Syndrome |
|
Craniosynostosis, Microphthalmia, Duplication of thumb phalanx, Preaxial hand polydactyly, Broad ... |
OMIM:601707 |
| Joubert Syndrome 22 |
|
Microphthalmia, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe syndactyly |
OMIM:615665 |
| Meckel Syndrome, Type 11 |
|
Oligohydramnios, Polydactyly |
OMIM:615397 |
| Pierpont Syndrome |
|
Microphthalmia, Deep palmar crease, Short finger, Excessive wrinkling of palmar skin, Short toe, ... |
ORPHA:487825 |
| Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, Short distal ph... |
OMIM:617927 |
| Isolated Arrhinia |
|
Microphthalmia, Facial cleft |
ORPHA:1134 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
| Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Short palm, Cone-shaped epiphysis, Flat occiput, Large ... |
ORPHA:2511 |
| 3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Facial cleft |
OMIM:248340 |
| Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Generalized osteoporosis, Ocular albinism, Osteoporosis |
OMIM:601220 |
| Potocki-Shaffer Syndrome |
|
Brachydactyly, 2-5 finger cutaneous syndactyly, Wormian bones, Single transverse palmar crease, T... |
OMIM:601224 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Brachydactyly, Micromelia, Thin calvarium, Limb undergrowth, Brachycephaly, Massively thickened l... |
OMIM:122900 |
| Hartsfield Syndrome |
|
Microphthalmia, Split hand, Craniosynostosis, Aplasia/Hypoplasia of the radius |
ORPHA:2117 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Microphthalmia, Hypoplastic iliac wing, Fro... |
ORPHA:163966 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal bossing, Craniosynostosis, Septo-optic dysplasia |
ORPHA:1528 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets |
OMIM:241520 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Brachydactyly, Short thumb, Midface retrusion |
ORPHA:435804 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
| Metaphyseal Acroscyphodysplasia |
|
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Short toe, Metaphyseal widening, Brachy... |
OMIM:250215 |
| Cataract 16, Multiple Types |
|
Developmental cataract, Posterior polar cataract |
OMIM:613763 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane |
ORPHA:1067 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Coxa valga, Elbow flexion contracture, Second metatarsal posteriorly placed, Rocker bottom foot, ... |
OMIM:214150 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... |
OMIM:107250 |
| Bartsocas-Papas Syndrome 1 |
|
Absent thumb, Absent palmar crease, Absent radius, Short metacarpal, Short phalanx of finger, Sho... |
OMIM:263650 |
| Cofs Syndrome |
|
Microphthalmia, Camptodactyly of finger, Prominent metopic ridge |
ORPHA:1466 |
| Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia |
OMIM:611561 |
| Stiff Skin Syndrome |
|
Elbow flexion contracture, Cataract, Knee flexion contracture, Camptodactyly, Limited shoulder mo... |
OMIM:184900 |
| Cataract 31, Multiple Types |
|
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Polydactyly |
OMIM:615985 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
| Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
| Cerebrooculonasal Syndrome |
|
Craniosynostosis, Anophthalmia, Frontal bossing, Postaxial hand polydactyly, Proboscis, Brachycep... |
OMIM:605627 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Tapered finger, Plagiocephaly, Syndactyly |
OMIM:618725 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Plagiocephaly, Anophthalmia, Phocomelia, Aplastic clavicle, Oligodactyly, Short thumb, Elbow disl... |
ORPHA:2538 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent radius, Oligodactyly, Micromelia, Microphthalmia, Short tibia, Humerorad... |
OMIM:251230 |
| Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
| Septooptic Dysplasia |
|
Optic nerve hypoplasia, Short finger, Optic disc hypoplasia, Polydactyly |
OMIM:182230 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Wormian bones, Abnormal lower limb bone morphology, Crumpled long bones, Microphthalmia, Frontal ... |
ORPHA:2788 |
| Constricting Bands, Congenital |
|
Talipes equinovarus, Facial cleft, Hand polydactyly, Syndactyly |
OMIM:217100 |
| Mend Syndrome |
|
2-3 toe syndactyly, Overlapping fingers, Polydactyly, Midface retrusion, Long fingers, Overlappin... |
OMIM:300960 |
| Frontonasal Dysplasia 1 |
|
Brachydactyly, Clinodactyly, Pectoral muscle hypoplasia/aplasia, Microphthalmia, Postaxial hand p... |
OMIM:136760 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Craniosynostosis, Optic nerve hypoplasia |
OMIM:218670 |
| Non-Distal Trisomy 10Q |
|
Frontal bossing, Aplasia/Hypoplasia affecting the eye, Brachycephaly |
ORPHA:1695 |
| 14Q22Q23 Microdeletion Syndrome |
|
Toe syndactyly, Anophthalmia, Short 5th metacarpal, Finger syndactyly, Short palm, Short 4th meta... |
ORPHA:264200 |
| Moebius Syndrome |
|
Brachydactyly, Clinodactyly, Abnormality of pelvic girdle bone morphology, Short phalanx of finge... |
OMIM:157900 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Microphthalmia |
OMIM:120433 |
| Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Central Y-shaped metacarpal, Prominent metopic ridge, Partial duplication of thumb ... |
OMIM:617926 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Anophthalmia, Dolichocephaly, Aniridia, Ulnar deviation of finger, Camptodactyly o... |
ORPHA:1101 |
| Spondyloperipheral Dysplasia |
|
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... |
OMIM:271700 |
| Achondrogenesis Type 2 |
|
Delayed proximal femoral epiphyseal ossification, Delayed vertebral ossification, Cataract, Delay... |
ORPHA:93296 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Rhizomelia, Anophthalmia, Microphthalmia |
OMIM:615877 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Bardet-Biedl Syndrome 4 |
|
Brachydactyly, Syndactyly, Polydactyly |
OMIM:615982 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Syndactyly, Polydactyly |
OMIM:602501 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
| Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Postaxial hand polydactyly, Microphthalmia, Polydactyly |
OMIM:603194 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Toe syndactyly, Finger syndactyly, Short palm, Aplasia/Hypoplasia of the th... |
ORPHA:93258 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
| Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
| Mosaic Trisomy 1 |
|
Toe syndactyly, Broad toe, Single transverse palmar crease, Absent distal interphalangeal creases... |
ORPHA:1692 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Clinodactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial hand polydacty... |
OMIM:277170 |
| Amoebic Keratitis |
|
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... |
ORPHA:67043 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Midface retrusion |
ORPHA:1135 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Cataract, Delayed ossification of carpal bones, Joint stiffness |
OMIM:127200 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Cortical cataract, Nuclear cataract |
OMIM:611391 |
| Treacher-Collins Syndrome |
|
Midface retrusion, Microphthalmia, Frontal bossing, Brachycephaly, Facial cleft |
ORPHA:861 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachydactyly, Craniosynostosis, Finger syndactyly, Oligohydramnios, Micromelia, Turricephaly, Br... |
ORPHA:2145 |
| Anterior Segment Dysgenesis 2 |
|
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... |
OMIM:610256 |
| Autosomal Dominant Keratitis |
|
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... |
ORPHA:2334 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Coronal craniosynostosis, Microphthalmia, Frontal bossing, Brachycephaly, Oligohydramnios, Calvar... |
ORPHA:228390 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Bowing of the long bones, Brachydactyly, Short long bone, Dolichocephaly, Ascites, Hydrops fetali... |
OMIM:614091 |
| Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly |
ORPHA:250923 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Trigonocephaly, Postaxial polydactyly, Tapered finger, Brachycephaly, Flat occiput, Prominent met... |
OMIM:613792 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Dislocated radial head, Rocker bottom foot, Steep acetabular roof, Flared metaphysis, Adducted th... |
OMIM:610758 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Sandal gap, Tapered finger, Frontal bossing |
ORPHA:1438 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Frontal bossing, Talipes equinovarus |
OMIM:612530 |
| Joubert Syndrome 10 |
|
Frontal bossing, Postaxial polydactyly |
OMIM:300804 |
| Cousin Syndrome |
|
Hypoplastic ischia, Toe syndactyly, Hypoplastic pubic bone, 4-5 toe syndactyly, 2-3 toe syndactyl... |
OMIM:260660 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
| Craniofrontonasal Dysplasia |
|
Brachydactyly, Congenital pseudoarthrosis of the clavicle, Plagiocephaly, Craniosynostosis, Finge... |
ORPHA:1520 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| Au-Kline Syndrome |
|
Craniosynostosis, Dolichocephaly, Deep palmar crease, Postaxial polydactyly, Hip dysplasia, Overl... |
OMIM:616580 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Split foot |
OMIM:601349 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Aminopterin Syndrome Sine Aminopterin |
|
Brachydactyly, Clinodactyly, Syndactyly, Short thumb, Arachnodactyly, Frontal bossing, Rudimentar... |
OMIM:600325 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Thickened calvaria, Brachycephaly |
ORPHA:178377 |
| Bardet-Biedl Syndrome 9 |
|
Brachydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly, Postaxial pol... |
OMIM:615986 |
| Pentasomy X |
|
Plagiocephaly, Clinodactyly of the 5th finger, Radioulnar synostosis, Small hand, Camptodactyly o... |
ORPHA:11 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly, Aplasia... |
ORPHA:2378 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic acetabulae, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplastic s... |
OMIM:169550 |
| Ivic Syndrome |
|
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... |
OMIM:147750 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Brachycephaly, Flat occiput |
ORPHA:2898 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Delayed closure of the anterior fontanelle, Clinodactyly of the 5th finger, Upper limb asymmetry,... |
ORPHA:231140 |
| Fraser Syndrome 1 |
|
Anophthalmia, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the phalanges of the hand, B... |
OMIM:219000 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Brachydactyly, Prominent occiput, Dolichocephaly, Hypoplasia of the radius, Midface retrusion, Mi... |
OMIM:617895 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
| 3P25.3 Microdeletion Syndrome |
|
Acromesomelia, Congenital pseudoarthrosis of the clavicle, Tapered finger, Broad hallux, Micropht... |
ORPHA:435638 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
| Holoprosencephaly 1 |
|
Microphthalmia, Proboscis, Facial cleft, Midface retrusion |
OMIM:236100 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication |
OMIM:188740 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Orofaciodigital Syndrome Type 10 |
|
Hypoplasia of proximal radius, Multiple palmar creases, Preaxial polydactyly, Mesomelic leg short... |
ORPHA:2756 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Martsolf Syndrome 2 |
|
Camptodactyly, Camptodactyly of finger, Cataract, Developmental cataract |
OMIM:619420 |
| Monosomy 18P |
|
Brachydactyly, Lymphedema, Microphthalmia, Brachycephaly |
ORPHA:1598 |
| Sandestig-Stefanova Syndrome |
|
Clinodactyly, Trigonocephaly, Prominent metopic ridge, Rocker bottom foot, Microphthalmia, Campto... |
OMIM:618804 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Polyhydramnios, Short long bone, Postaxial polydactyly |
OMIM:615633 |
| Senior-Loken Syndrome |
|
Cataract, Abnormality of bone mineral density |
ORPHA:3156 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Fibular hypoplasia, Mesomelic leg shortening, Hypoplastic iliac wing, Short toe, Hand monodactyly... |
OMIM:609945 |
| Bresek Syndrome |
|
Microphthalmia, Plagiocephaly, Postaxial hand polydactyly, Optic nerve hypoplasia |
ORPHA:85284 |
| Bardet-Biedl Syndrome 19 |
|
Polydactyly |
OMIM:615996 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Oligohydramnios, Single transverse palmar crease |
OMIM:614219 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Joint stiffness, Ectopia lentis |
ORPHA:1885 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Brachydactyly, Clinodactyly, Carpal synostosis, Plagiocephaly, Short metacarpal, Radioulnar synos... |
OMIM:605282 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Dolichocephaly |
OMIM:167730 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia |
OMIM:212550 |
| Stevenson-Carey Syndrome |
|
Microphthalmia, Brachycephaly, Camptodactyly, Hip dysplasia, Joint contracture of the hand |
OMIM:611961 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract, Joint stiffness, Osteoarthritis |
ORPHA:1345 |
| Pseudodiastrophic Dysplasia |
|
Rhizomelia, Elbow dislocation, Midface retrusion, Frontal bossing, Brachycephaly, Camptodactyly, ... |
OMIM:264180 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Bilateral talipes equinovarus, Abnormality of pelvic girdle bone morphology, Rhizomelia, Epiphyse... |
OMIM:302960 |
| Roberts Syndrome |
|
Sandal gap, Clinodactyly of the 5th finger, Mesomelic arm shortening, Brachydactyly, Synostosis o... |
ORPHA:3103 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Plagiocephaly, Scaphocephaly, Rocker bottom foot, Hip dislocation, Wrist flexion contracture, Elb... |
ORPHA:1143 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Camptodactyly, Cubitus valgus, Down-sloping shoulders |
OMIM:619694 |
| Gracile Bone Dysplasia |
|
Brachydactyly, Microphthalmia, Flared metaphysis, Aniridia, Ascites, Slender long bone |
OMIM:602361 |
| Atelosteogenesis Type Ii |
|
Sandal gap, Rhizomelic arm shortening, Micromelia, Ulnar deviation of the hand or of fingers of t... |
ORPHA:56304 |
| Heart And Brain Malformation Syndrome |
|
Prominent occiput, Microphthalmia, Wide anterior fontanel, Polyhydramnios, Hand clenching, Campto... |
OMIM:616920 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the long bones, Bowing of the legs, Brachydactyly, Metaphyseal irregularity, Abnormalit... |
ORPHA:85167 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
| Congenital Rubella Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormality of the metaphysis, Abnormality of the... |
ORPHA:290 |
| Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
| Joubert Syndrome 37 |
|
Microphthalmia, Frontal bossing, Prominent metopic ridge, Postaxial polydactyly |
OMIM:619185 |
| Exudative Vitreoretinopathy 6 |
|
Cataract |
OMIM:616468 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
| Adams-Oliver Syndrome |
|
Brachydactyly, Finger syndactyly, Ascites, Microphthalmia, Short distal phalanx of finger, Absent... |
ORPHA:974 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lambdoidal craniosynostosis, Delayed closure of the anterior fontanelle, Optic nerve hypoplasia, ... |
OMIM:618736 |
| 3Q29 Microduplication Syndrome |
|
Biparietal narrowing, Toe syndactyly, Craniosynostosis, Sandal gap, Microphthalmia, Aniridia, Lar... |
ORPHA:251038 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia, Metatarsus valgus |
ORPHA:899 |
| Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Tibial deviation of toes, Crani... |
OMIM:609128 |
| Premature Aging Syndrome, Okamoto Type |
|
Cataract, Osteoporosis |
OMIM:601811 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia, Overlapping toe |
OMIM:600118 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
| Metatropic Dysplasia |
|
Joint stiffness, Abnormal enchondral ossification, Cataract, Camptodactyly of finger, Coarse meta... |
ORPHA:2635 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Frontal bossing |
OMIM:617306 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Epiphyseal stippling, ... |
OMIM:619135 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Cataract 40 |
|
Sutural cataract, Nuclear cataract |
OMIM:302200 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Clinodactyly of the 5th finger, Short 5th finger, Polydactyly, Ectrodactyly, Frontal bossing, Oli... |
ORPHA:397590 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Brachydactyly, Small thenar eminence, 2-3 toe syndactyly, Sandal gap, Joint contracture of the 5t... |
OMIM:618914 |
| Martsolf Syndrome 1 |
|
Short palm, Short metacarpal, Broad fingertip, Short phalanx of finger, Metatarsus adductus, Micr... |
OMIM:212720 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Abnormal pelvis bone ossification, Short palm, Hydrops fetalis, Micromelia, Frontal bossing, Prea... |
ORPHA:93271 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Bilateral talipes equinovarus, Overlapping fingers, Preaxial polydactyly, Brachycephaly, Postaxia... |
OMIM:618142 |
| Microphthalmia, Syndromic 6 |
|
Brachydactyly, Toe syndactyly, Plagiocephaly, Lambdoidal craniosynostosis, Finger syndactyly, Sin... |
OMIM:607932 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hypoplastic ischia, Short femoral neck, Cone-shaped epiphyses of the phalanges of the hand, Short... |
OMIM:304950 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Broad toe, Short palm, Short phalanx of finger, Midface retrusion, Microphthalmia, Small hand, Sh... |
OMIM:271960 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Ascites |
ORPHA:858 |
| Acromelic Frontonasal Dysostosis |
|
Preaxial polydactyly, Polydactyly, Brachycephaly, Talipes equinovarus, Syndactyly |
OMIM:603671 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Prominent occiput, Plagiocephaly, Dolichocephaly, Clinodactyly of the 5th finger, Tapered finger,... |
OMIM:618672 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Single transverse palmar cre... |
OMIM:617866 |
| Laurence-Moon Syndrome |
|
Brachydactyly, Finger syndactyly, Hand polydactyly, Brachycephaly, Bilateral single transverse pa... |
ORPHA:2377 |
| Sporadic Fetal Brain Disruption Sequence |
|
Prominent occiput, Plagiocephaly |
ORPHA:1665 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Plagiocephaly, Single transverse palmar crease, Rhizomelia, Short 5th finger, Short thumb, Hypere... |
OMIM:618821 |
| Cataract 6, Multiple Types |
|
Developmental cataract, Posterior polar cataract |
OMIM:116600 |
| Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
| Tibial Hemimelia |
|
Radial club hand, Mesomelic leg shortening, Short tibia, Hip dysplasia, Hip dislocation, Absent r... |
ORPHA:93322 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
2-4 toe cutaneous syndactyly, 4-5 finger syndactyly, Fifth finger distal phalanx clinodactyly, Mi... |
OMIM:257850 |
| Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
| 2Q31.1 Microdeletion Syndrome |
|
Brachydactyly, Broad hallux phalanx, Abnormality of the ulna, Toe syndactyly, Finger syndactyly, ... |
ORPHA:251014 |
| Grant Syndrome |
|
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Abnormalit... |
ORPHA:2097 |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Cataract, Developmental cataract |
OMIM:614482 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Clinodactyly, Unilambdoid synostosis, Plagiocephaly, Midface retrusion, Brachycephaly, Ulnar devi... |
OMIM:618577 |
| Anauxetic Dysplasia 3 |
|
Brachydactyly, Broad middle phalanx of finger, Trident hand, Plagiocephaly, Short metacarpal, Squ... |
OMIM:618853 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Brachycephaly, Postaxial polydactyly |
OMIM:615761 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Trigonocephaly |
OMIM:614583 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:48431 |
| Humeroradial Synostosis With Craniofacial Anomalies |
|
Plagiocephaly, Carpal synostosis, Frontal bossing, Humeroradial synostosis, Tarsal synostosis, Br... |
OMIM:236410 |
| Joubert Syndrome 18 |
|
Camptodactyly, Polydactyly |
OMIM:614815 |
| Bardet-Biedl Syndrome 17 |
|
Brachydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand pol... |
OMIM:615994 |
| Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Flexion c... |
ORPHA:2712 |
| Chromosome 17Q12 Duplication Syndrome |
|
Brachydactyly, Microphthalmia, Broad thumb |
OMIM:614526 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
| Muenke Syndrome |
|
Plagiocephaly, Carpal synostosis, Short palm, Coronal craniosynostosis, Cone-shaped epiphysis, Br... |
ORPHA:53271 |
| Achard Syndrome |
|
Arachnodactyly, Broad skull, Brachycephaly |
OMIM:100700 |
| Meckel Syndrome |
|
Bowing of the long bones, Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Preaxial hand... |
ORPHA:564 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Brachydactyly, Tapered finger, Short finger, Brachycephaly, Short toe |
OMIM:610680 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
| Carpenter Syndrome 1 |
|
Genu varum, Joint contracture of the hand, Clinodactyly of the 5th finger, Complete duplication o... |
OMIM:201000 |
| Microgastria-Limb Reduction Defects Association |
|
Absent thumb, Hypoplasia of the ulna, Anophthalmia, Hand oligodactyly, Phocomelia, Hypoplasia of ... |
OMIM:156810 |
| Seckel Syndrome 2 |
|
Microphthalmia, Clinodactyly of the 5th finger |
OMIM:606744 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... |
ORPHA:137902 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Hypoplasia of the radius, Microphthalmia, Polyhydramnios, Hip dislocation |
ORPHA:3412 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Midface retrusion, Arachnodactyly, Adducted thumb, Talipes equinovarus, Frontal bossing, Brachyce... |
OMIM:615539 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Oligohydramnios, Single transverse palmar crease |
OMIM:619053 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Frontal bossing |
OMIM:614105 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial polydactyly |
OMIM:617127 |
| Acro-Renal-Ocular Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Finger s... |
ORPHA:959 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial foot polydactyly, 2-3 toe syndactyly, Broad distal phalanx of finger, Microphthalmia, B... |
ORPHA:404440 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Abnormally large globe, Postaxial polydactyly |
OMIM:603387 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract, Joint stiffness |
ORPHA:1366 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Brachycephaly, Midface retrusion |
OMIM:612247 |
| Cardioacrofacial Dysplasia 1 |
|
Midface retrusion, Genu valgum, Limb undergrowth, Postaxial polydactyly |
OMIM:619142 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Rocker bottom foot, Camptodactyly of finger, Microphthalmia |
OMIM:610756 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Brachydactyly, Plagiocephaly, Trigonocephaly, Craniosynostosis |
OMIM:618265 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Microphthalmia, Lymphedema, Flat occiput |
OMIM:152950 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Small thenar eminence, Trigonocephaly, Single transverse palmar crease, Prominent metopic ridge, ... |
OMIM:619148 |
| 20P13 Microdeletion Syndrome |
|
Brachydactyly, Clinodactyly, Finger syndactyly, Polydactyly, Wide anterior fontanel |
ORPHA:313781 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Slender finger, Plagiocephaly |
OMIM:615656 |
| Acrodysostosis |
|
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Short metacarpal, Epiphyseal stip... |
ORPHA:950 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Protrusio acetabuli, Camptodacty... |
OMIM:259600 |
| Pelger-Huet Anomaly |
|
Short 5th metacarpal, Short 4th metacarpal, Upper limb undergrowth, Polydactyly, Frontal bossing,... |
OMIM:169400 |
| Orofaciodigital Syndrome Iv |
|
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Short tibia, Sho... |
OMIM:258860 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Band keratopathy, Knee osteoarthritis, Cataract, Joint hypermobility, Rheumatoid arthritis, Oligo... |
ORPHA:85410 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Clinodactyly of the 5th finger, Preaxial polydactyly, Complete duplication of the 1st metatarsal |
OMIM:129540 |
| Cebalid Syndrome |
|
Plagiocephaly, Dolichocephaly, Platystencephaly, Midface retrusion, Turricephaly, Brachycephaly |
OMIM:618774 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Clinodactyly, Plagiocephaly, Sandal gap, Tapered finger, Small hand, Short foot |
OMIM:618089 |
| Endocrine-Cerebroosteodysplasia |
|
Brachydactyly, Sandal gap, Preaxial polydactyly, Polydactyly, Micromelia, Midface retrusion, Ulna... |
OMIM:612651 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Polydactyly |
OMIM:616910 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Epiphyseal stippling, Cataract |
OMIM:302950 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Plagiocephaly, Deviation of the 5th finger, Broad hallux, Postaxial polydactyly, Prominent metopi... |
OMIM:616362 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Trigonocephaly, Duplication of phalanx of hallux, Midface retrusion |
OMIM:243310 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the ... |
ORPHA:94066 |
| Nance-Horan Syndrome |
|
Short metacarpal, Microphthalmia |
ORPHA:627 |
| German Syndrome |
|
Dolichocephaly, Midface retrusion, Lymphedema, Brachycephaly, Camptodactyly of finger |
ORPHA:2077 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Decreased calvarial ossification, Hypoplastic pubic bone, Short long bone, Fibular hypoplasia, Pr... |
OMIM:617925 |
| Joubert Syndrome 32 |
|
Frontal bossing, Postaxial polydactyly |
OMIM:617757 |
| Weill-Marchesani Syndrome |
|
Limitation of joint mobility, Cataract, Ectopia lentis |
ORPHA:3449 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Clinodactyly, Plagiocephaly, Midface retrusion, Brachycephaly, Bilateral microphthalmos, Camptoda... |
ORPHA:369891 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
| Focal Dermal Hypoplasia |
|
Brachydactyly, Toe syndactyly, Anophthalmia, Foot polydactyly, Hand oligodactyly, Short metacarpa... |
OMIM:305600 |
| Microphthalmia, Syndromic 3 |
|
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Frontal bossing, Optic nerve aplasia |
OMIM:206900 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly, Polyhydramnios |
ORPHA:521390 |
| Pde4D Haploinsufficiency Syndrome |
|
Brachydactyly, Bilateral coxa valga, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fi... |
ORPHA:439822 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Rocker bottom foot, Midface retrusion, Uln... |
OMIM:207410 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Midface retrusion, Microphthalmia, Postaxial hand polydactyly |
OMIM:610829 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
