Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia |
OMIM:616947 |
Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia |
ORPHA:35612 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Chorioretinal dysplasia, Microphthalmia |
OMIM:616335 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia, Chorioretinal coloboma |
OMIM:616428 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Microphthalmia, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreou... |
OMIM:305390 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Retinal detachment |
OMIM:212550 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Microphthalmia, Chorioretinal coloboma, Bilateral microphthalmos |
OMIM:611638 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... |
ORPHA:83461 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Microphthalmia, Retinal degeneration, Cystoid macular degeneration |
OMIM:267760 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Foveal Hypoplasia 2 |
|
Optic nerve misrouting, Microphthalmia, Hypoplasia of the fovea, Foveal hyperpigmentation |
OMIM:609218 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Microphthalmia, Isolated 6 |
|
Retinal fold, Microphthalmia |
OMIM:613517 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Microphthalmia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina,... |
OMIM:611040 |
Idiopathic Uveal Effusion Syndrome |
|
Exudative retinal detachment, Microphthalmia, Retinal fold, Subretinal fluid |
ORPHA:209956 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Retinal dys... |
OMIM:251270 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Microphthalm... |
ORPHA:891 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Retinopathy |
OMIM:616171 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Optic nerve hypoplasia, Microphthalmia |
OMIM:615113 |
Norrie Disease |
|
Optic atrophy, Retinal fold, Microphthalmia, Retinal dysplasia, Hypoplasia of the iris, Retinal d... |
OMIM:310600 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microphthalmia, Chorioretinal coloboma |
ORPHA:231736 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Microphthalmia |
OMIM:278780 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Retinal detachment, Microphthalmia, Chorioretinal coloboma |
ORPHA:1473 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Retinal dysplasia |
ORPHA:324416 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... |
ORPHA:137902 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Vitreoretinochoroidopathy |
|
Microphthalmia, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhag... |
OMIM:193220 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia |
OMIM:274270 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1466 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Joubert Syndrome 22 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615665 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Cat-Eye Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:195 |
Coloboma, Ocular, Autosomal Dominant |
|
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Optic disc coloboma, Remnants of t... |
OMIM:120200 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Microphthalmia |
OMIM:120433 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachme... |
ORPHA:2788 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Warburg Micro Syndrome 4 |
|
Optic atrophy, Microphthalmia |
OMIM:615663 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:858 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos |
OMIM:608763 |
Nance-Horan Syndrome |
|
Retinal detachment, Microphthalmia |
ORPHA:627 |
Papillorenal Syndrome |
|
Microphthalmia, Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc co... |
OMIM:120330 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Optic atrophy, Retinal fold, Microphthalmia, Chorioretinal dysplasia, Chorioretinal lacunae, Reti... |
OMIM:152950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Microphthalmia |
OMIM:613153 |
Temtamy Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:1777 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:257910 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
Warburg Micro Syndrome 1 |
|
Optic atrophy, Microphthalmia |
OMIM:600118 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Microphthalmia, Aplasia/Hypoplasia of the iris |
ORPHA:290 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Adams-Oliver Syndrome 2 |
|
Optic atrophy, Microphthalmia |
OMIM:614219 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Intention tremor |
ORPHA:48431 |
Warburg Micro Syndrome 3 |
|
Optic atrophy, Microphthalmia |
OMIM:614222 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Microphthalmia |
OMIM:610125 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Microphthalmia |
OMIM:615145 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Retinal dystrophy, Microphthalmia, Chorioretinal coloboma |
ORPHA:139471 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Retinal fold, Tractional retinal detachment, Microphthalmia, Glial remnants anterior... |
ORPHA:91495 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... |
ORPHA:2334 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia, Retinal degeneration |
OMIM:615249 |
Oculoauricular Syndrome |
|
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Retinal coloboma, Microphakia, Pht... |
OMIM:612109 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
Walker-Warburg Syndrome |
|
Abnormality of the optic nerve, Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, R... |
ORPHA:899 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Bilateral microphthalmos, Chorioretinal coloboma |
OMIM:600122 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Retinal nonattachment, Microphthalmia, Retinal fold, Phthisis bulbi, Remnants of the... |
OMIM:221900 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma |
OMIM:169550 |
Trisomy 13 |
|
Optic atrophy, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal retinal vas... |
ORPHA:3378 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Microphthalmia, Retinopathy |
ORPHA:773 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Retinal detachment, Microphthalmia, Hypopigmentation of the fundus |
ORPHA:163649 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Otodental Syndrome |
|
Lens coloboma, Microphthalmia, Retinal coloboma |
ORPHA:2791 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Joubert Syndrome 14 |
|
Microphthalmia, Morning glory anomaly |
OMIM:614424 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Optic atrophy |
ORPHA:370959 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Tay-Sachs Disease |
|
Exaggerated startle response, Cherry red spot of the macula |
OMIM:272800 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Retinal coloboma |
ORPHA:2328 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Microphthalmia |
ORPHA:85284 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Retinal dystrophy, Buphthalmos, Microphthalmia |
OMIM:616538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Microphthalmia, Retinal dysplasia, Exaggerated startle response, Retinal detachment |
OMIM:253800 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma |
ORPHA:1553 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Congenital aphakia, Microphthalmia, Aniridia |
OMIM:610256 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Microphthalmia, Pigmentary retinopathy |
OMIM:610651 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Macular atrophy, Abnormality of retinal pigmentation, Microphthalmia, Retinal thinning, Cone/cone... |
ORPHA:85167 |
Micro Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Retinal coloboma |
ORPHA:2510 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:243310 |
Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Microphthalmia, Chorioretinal coloboma |
ORPHA:494344 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309246 |
Myoclonic-Astatic Epilepsy |
|
Tremor, Microphthalmia |
ORPHA:1942 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Remnants of the hy... |
OMIM:614643 |
Cat Eye Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:115470 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Bilateral microphthalmos |
OMIM:607597 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Retinopathy |
ORPHA:2505 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:619135 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment, Microphthalmia |
ORPHA:2714 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Optic atrophy, Microphthalmia |
OMIM:234050 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Microphthalmia |
ORPHA:2712 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Warburg Micro Syndrome 2 |
|
Optic atrophy, Microphthalmia |
OMIM:614225 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Retinal coloboma |
OMIM:618571 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Phace Association |
|
Optic atrophy, Optic nerve hypoplasia, Microphthalmia, Increased retinal vascularity |
OMIM:606519 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:609053 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Opisthotonus |
ORPHA:335 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Retinal coloboma |
OMIM:244300 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Buphthalmos, Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Retinal de... |
OMIM:236670 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Incontinentia Pigmenti |
|
Optic atrophy, Microphthalmia, Hypoplasia of the fovea, Retinal vascular proliferation, Retinal d... |
OMIM:308300 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Microphthalmi... |
ORPHA:2526 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:615877 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microphthalmia |
OMIM:147250 |
Joubert Syndrome 2 |
|
Retinal dystrophy, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma |
OMIM:608091 |
Hydrolethalus |
|
Anophthalmia, Microphthalmia |
ORPHA:2189 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Microphthalmia |
OMIM:618914 |
Microphthalmia, Syndromic 3 |
|
Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:206900 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma |
OMIM:184705 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Papilledema, Microphthalmia |
OMIM:127000 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:77298 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Chorioretinal coloboma, Optic disc coloboma |
ORPHA:568 |
Osteoporosis-Pseudoglioma Syndrome |
|
Vitreoretinopathy, Phthisis bulbi, Microphthalmia |
OMIM:259770 |
Aicardi Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal coloboma, Microphthalmia, Optic... |
ORPHA:50 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Cohen Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Microphthalmia |
ORPHA:193 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Microphthalmia |
OMIM:618727 |
Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2470 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Buphthalmos, Retinal degeneration, Microphthalmia, Retinal dysplasia, Hypoplasia o... |
OMIM:253280 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Exaggerated startle response |
OMIM:617301 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Incontinentia Pigmenti |
|
Microphthalmia, Retinal vascular proliferation, Retinal detachment, Abnormal chorioretinal morpho... |
ORPHA:464 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal degeneration, Microphthalmia, Retinal dystrophy, Intention tremor, Ret... |
ORPHA:90324 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Microphthalmia |
OMIM:600123 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Microphthalmia, Retinal vascular tortuosity |
OMIM:243605 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Microphthalmia, Retinal coloboma |
OMIM:607323 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Abnormality of the optic nerve, Microphthalmia |
ORPHA:3412 |
Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Retinal coloboma |
ORPHA:2839 |
Sandhoff Disease |
|
Exaggerated startle response, Cherry red spot of the macula |
OMIM:268800 |
Cockayne Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal degeneration, Micr... |
ORPHA:191 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia |
OMIM:614083 |
Momo Syndrome |
|
Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Aicardi Syndrome |
|
Optic atrophy, Microphthalmia, Chorioretinal lacunae, Optic disc coloboma, Retinal detachment |
OMIM:304050 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos |
ORPHA:369891 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Jacobsen Syndrome |
|
Macular hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic atrophy |
OMIM:147791 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma |
ORPHA:959 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:268249 |
Acrofrontofacionasal Dysostosis 1 |
|
Optic atrophy, Microphthalmia |
OMIM:201180 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal dys... |
ORPHA:2556 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Pigmentary retinopathy |
OMIM:309801 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Rod-cone dystrophy |
OMIM:223370 |
Encephalocraniocutaneous Lipomatosis |
|
Microphthalmia, Hypoplasia of the iris |
OMIM:613001 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia |
OMIM:619148 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Microphthalmia, Hypoplasia of the iris |
OMIM:251300 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Tay-Sachs Disease |
|
Tremor, Optic atrophy, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:845 |
Cockayne Syndrome B |
|
Optic atrophy, Microphthalmia, Hypoplasia of the iris, Tremor, Pigmentary retinopathy |
OMIM:133540 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:3380 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Holoprosencephaly |
|
Optic atrophy, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Retinopathy |
ORPHA:2162 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Focal Dermal Hypoplasia |
|
Microphthalmia, Chorioretinal coloboma, Hypoplasia of the iris |
ORPHA:2092 |
Monosomy 9Q22.3 |
|
Microphthalmia, Retinopathy |
ORPHA:77301 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
OMIM:272750 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Chorioretinal coloboma, Optic disc coloboma |
OMIM:234100 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Optic disc coloboma |
ORPHA:251014 |
Meckel Syndrome |
|
Optic atrophy, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal chorioretin... |
ORPHA:564 |
Trichothiodystrophy |
|
Bilateral microphthalmos, Retinal degeneration, Intention tremor, Macular degeneration |
ORPHA:33364 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Exaggerated startle response |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Exaggerated startle response |
ORPHA:521426 |
Subaortic Stenosis--Short Stature Syndrome |
|
Microphthalmia |
OMIM:271960 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Cherry red spot of the macula |
ORPHA:79255 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Abnormality of the optic disc, Microphthalmia, Retinal coloboma |
ORPHA:508498 |
Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Microphthalmia, Retinal vascular malformation |
ORPHA:42775 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Mosaic Trisomy 9 |
|
Microphthalmia |
ORPHA:99776 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb tremor, Exaggerated startle response |
OMIM:608643 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia |
OMIM:264480 |
Cousin Syndrome |
|
Microphthalmia |
OMIM:260660 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Microphthalmia, Congenital aphakia |
ORPHA:137675 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Norrie Disease |
|
Optic atrophy, Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Abnormal r... |
ORPHA:649 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response |
ORPHA:438216 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Retinal calcification, Papilledema, Bilateral microphthalmos |
ORPHA:93325 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia |
OMIM:616300 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Microphthalmia |
OMIM:616975 |
Proboscis Lateralis |
|
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma |
ORPHA:141099 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:610829 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Monosomy 13Q14 |
|
Microphthalmia, Retinoblastoma |
ORPHA:1587 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia, Phthisis bulbi, Retinal detachment, Remnants of the hyaloid vascula... |
OMIM:300166 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Optic disc pallor, Bilateral microphthalmos, Attenuation of retinal blood... |
ORPHA:468631 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Craniofacial Microsomia |
|
Anophthalmia, Microphthalmia |
OMIM:164210 |
Pallister-Hall Syndrome |
|
Microphthalmia |
OMIM:146510 |
Microphthalmia With Limb Anomalies |
|
True anophthalmia, Optic atrophy, Microphthalmia |
ORPHA:1106 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:250989 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Basal Cell Nevus Syndrome |
|
Microphthalmia |
OMIM:109400 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Chorioretinal dysplasia, Microphthalmia |
ORPHA:534 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal arteriolar tortuosity, Microphthalmia, Hypoplasia of the iris, Peripapillary atrophy, Hyp... |
OMIM:175780 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia |
OMIM:268400 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia |
OMIM:227646 |
22Q11.2 Deletion Syndrome |
|
Optic atrophy, Retinal arteriolar tortuosity, Microphthalmia |
ORPHA:567 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
Charge Syndrome |
|
Anophthalmia, Optic atrophy, Microphthalmia, Chorioretinal coloboma |
ORPHA:138 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia |
ORPHA:1052 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
Focal Dermal Hypoplasia |
|
Optic atrophy, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Aniridia |
OMIM:305600 |
Treacher-Collins Syndrome |
|
Microphthalmia |
ORPHA:861 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2538 |
Fanconi Anemia |
|
Microphthalmia, Aplasia/Hypoplasia of the iris |
ORPHA:84 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia |
OMIM:263650 |
Meckel Syndrome, Type 1 |
|
Microphthalmia |
OMIM:249000 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
Myhre Syndrome |
|
Microphthalmia |
OMIM:139210 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia |
ORPHA:2166 |
Roberts Syndrome |
|
Microphthalmia |
ORPHA:3103 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Lens coloboma, Microphthalmia, Hypoplasia of the fovea |
OMIM:619539 |
Degcags Syndrome |
|
Microphthalmia |
OMIM:619488 |
Witteveen-Kolk Syndrome |
|
Microphthalmia |
OMIM:613406 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Fryns Syndrome |
|
Microphthalmia |
OMIM:229850 |
Charge Syndrome |
|
Anophthalmia, Unilateral microphthalmos, Microphthalmia, Retinal coloboma |
OMIM:214800 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Fontaine Progeroid Syndrome |
|
Microphthalmia |
OMIM:612289 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Yunis-Varon Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:3472 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Microphthalmia, Retinal coloboma |
OMIM:113620 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Retinal dystrophy, Microphthalmia |
OMIM:607932 |
Holoprosencephaly 7 |
|
Bilateral microphthalmos |
OMIM:610828 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Fraser Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2052 |
Townes-Brocks Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:857 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:235730 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia |
OMIM:256520 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response |
ORPHA:438213 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia |
OMIM:236680 |
Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Pallister-Hall Syndrome |
|
Microphthalmia |
ORPHA:672 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Microphthalmia, Retinal coloboma |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Optic atrophy, Microphthalmia, Retinal coloboma |
ORPHA:261552 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma |
OMIM:309800 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Retinal coloboma |
ORPHA:2152 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Roberts-Sc Phocomelia Syndrome |
|
Microphthalmia |
OMIM:268300 |
8Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Bilateral microphthalmos, Retinal coloboma |
ORPHA:508488 |