Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia |
OMIM:616947 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration, Microphthalmia |
OMIM:251700 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
Congenital Primary Aphakia |
|
Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, ... |
ORPHA:83461 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Chorioretinal coloboma |
OMIM:611638 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Cystoid macular degeneration, Macular atrophy, Microphthalmia |
OMIM:267760 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... |
OMIM:305390 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Hypoplastic optic chiasm, Optic nerve hypoplasia, True anophthalmia, Microphthalmia... |
OMIM:615113 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Microphthalmia, Chorioretin... |
OMIM:251270 |
Microphthalmia, Isolated 6 |
|
Retinal fold, Microphthalmia |
OMIM:613517 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia, Microphthalmia |
OMIM:614830 |
Foveal Hypoplasia 2 |
|
Foveal hyperpigmentation, Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia |
OMIM:609218 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:120433 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Microphthalmia, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia, Microphthalmia |
OMIM:615771 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Microphthalmia, Retinal coloboma |
OMIM:601794 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal dystrophy, Macular atrophy, Buphthalmos, Microphthalmia, Chorioretinal coloboma, Retinal ... |
OMIM:212550 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Microphthalmia, Optic disc pallor |
OMIM:616171 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Microphthalmia, Retinal coloboma |
ORPHA:363741 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... |
ORPHA:137902 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Chorioretinal coloboma, Microphthalmia, Optic atrophy |
ORPHA:1473 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Microphthalmia |
OMIM:278780 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Retinal dysplasia, Microphthalmia |
ORPHA:324416 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Idiopathic Uveal Effusion Syndrome |
|
Exudative retinal detachment, Retinal fold, Microphthalmia, Subretinal fluid |
ORPHA:209956 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:300915 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... |
OMIM:193220 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Optic atrophy |
OMIM:274270 |
Cofs Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Joubert Syndrome 22 |
|
Retinal dysplasia, Microphthalmia |
OMIM:615665 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Cat-Eye Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:195 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic atrophy, Septo-optic dysplasia |
ORPHA:1528 |
Coloboma, Ocular, Autosomal Dominant |
|
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Microphthalm... |
OMIM:120200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microphthalm... |
OMIM:310600 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Exudative retinopathy, Microphthalmia, Retinal detachment, Abnormal ... |
ORPHA:2788 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Congenital Toxoplasmosis |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:858 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Microphthalmia |
OMIM:613155 |
Nance-Horan Syndrome |
|
Retinal detachment, Microphthalmia |
ORPHA:627 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Microphthalmia |
OMIM:613730 |
Temtamy Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:1777 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal fold, Optic atrophy, Microphthalmia, Chorioretinal dysplasia, Retinal detachment, Chorior... |
OMIM:152950 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:257910 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Optic atrophy |
OMIM:600118 |
Lissencephaly 8 |
|
Microphthalmia, Optic atrophy |
OMIM:617255 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Developmental And Epileptic Encephalopathy 1 |
|
Choreoathetosis, Dystonia, Microphthalmia |
OMIM:308350 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Microphthalmia |
OMIM:615145 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:290 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Intention tremor |
ORPHA:48431 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Microphthalmia |
OMIM:613153 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling, Dystonia, Microphthalmia |
OMIM:614105 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Optic disc pallor, Optic atrophy |
OMIM:609541 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Retinal dystrophy, Anophthalmia, Chorioretinal coloboma |
ORPHA:139471 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Optic atrophy |
OMIM:615085 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Macular hypoplasia, Hyaloid vascular remnant and ret... |
ORPHA:91495 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Optic disc pallor, Optic atrophy |
ORPHA:320406 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, A... |
ORPHA:2334 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration, Abnormally large globe, Microphthalmia |
OMIM:615249 |
Oculoauricular Syndrome |
|
Rod-cone dystrophy, Morning glory anomaly, Cone/cone-rod dystrophy, Macular hypoplasia, Microphth... |
OMIM:612109 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Walker-Warburg Syndrome |
|
Anophthalmia, Optic atrophy, Retinal dystrophy, Retinal dysplasia, Microphthalmia, Chorioretinal ... |
ORPHA:899 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Buphthalmos, Retinal nonattachment, Remnants of the hyaloid vascular system, Microp... |
OMIM:221900 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Hypopigmentation of the fundus, Microphthalmia |
ORPHA:163649 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia, Cherry red spot of the macula |
ORPHA:309246 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Microphthalmia |
OMIM:169550 |
Otodental Syndrome |
|
Microphthalmia, Retinal coloboma, Lens coloboma |
ORPHA:2791 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Refsum Disease |
|
Retinopathy, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:773 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Tay-Sachs Disease |
|
Exaggerated startle response, Cherry red spot of the macula |
OMIM:272800 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Microphthalmia, Optic atrophy, Optic nerve hypoplasia |
ORPHA:370959 |
Trisomy 13 |
|
Anophthalmia, Optic atrophy, Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal retinal vas... |
ORPHA:3378 |
Papillorenal Syndrome |
|
Morning glory anomaly, Macular degeneration, Chorioretinal atrophy, Microphthalmia, Macular hyper... |
OMIM:120330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy, Retinal dysplasia, Microphthalmia, Retinal detachment |
OMIM:253800 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Optic atrophy |
OMIM:612379 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Retinal coloboma |
ORPHA:2328 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Temtamy Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:218340 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy |
OMIM:614219 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Curry-Jones Syndrome |
|
Optic disc coloboma, Microphthalmia |
ORPHA:1553 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Pierson Syndrome |
|
Retinal hemorrhage, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasi... |
OMIM:609049 |
Rere-Related Neurodevelopmental Syndrome |
|
Chorioretinal coloboma, Microphthalmia, Optic atrophy |
ORPHA:494344 |
Micro Syndrome |
|
Retinal coloboma, Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2510 |
Xeroderma Pigmentosum, Complementation Group B |
|
Pigmentary retinopathy, Microphthalmia, Optic atrophy |
OMIM:610651 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin... |
ORPHA:85167 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Retinal dystrophy, Microphthalmia |
OMIM:616538 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Monosomy 18P |
|
Generalized dystonia, Microphthalmia |
ORPHA:1598 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:243310 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309155 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Myoclonic-Astatic Epilepsy |
|
Tremor, Microphthalmia |
ORPHA:1942 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia |
OMIM:610256 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid vascular system, Microphthalmi... |
OMIM:614643 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia |
ORPHA:2714 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Retinopathy, Microphthalmia |
ORPHA:2505 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:619135 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Microphthalmia |
ORPHA:2712 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia |
OMIM:617864 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Joubert Syndrome 14 |
|
Morning glory anomaly, Microphthalmia, Optic atrophy |
OMIM:614424 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Optic atrophy |
OMIM:615663 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Retinal coloboma |
OMIM:618571 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Congenital Fibrinogen Deficiency |
|
Opisthotonus, Microphthalmia |
ORPHA:335 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Optic atrophy |
OMIM:234050 |
Phace Association |
|
Increased retinal vascularity, Microphthalmia, Optic atrophy, Optic nerve hypoplasia |
OMIM:606519 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Optic atrophy |
OMIM:614222 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Abnormal retinal morphology |
OMIM:610758 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Retinal coloboma |
OMIM:244300 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinopathy, Anophthalmia, Optic atrophy, Retinal dystrophy, Abnormality of retinal pigmentation,... |
ORPHA:2526 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Buphthalmos, Retinal dysplasia, Microphth... |
OMIM:236670 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Optic atrophy, Septo-optic dysplasia |
ORPHA:3301 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Optic atrophy |
OMIM:614225 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Incontinentia Pigmenti |
|
Retinal hemorrhage, Retinal vascular proliferation, Optic atrophy, Hypoplasia of the fovea, Micro... |
OMIM:308300 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Microphthalmia, Retinal calcification |
OMIM:127000 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Cohen Syndrome |
|
Chorioretinal dystrophy, Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:193 |
Joubert Syndrome 2 |
|
Retinal dystrophy, Optic disc coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:608091 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy |
OMIM:617301 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy, Microphthalmia |
OMIM:614230 |
Microphthalmia, Lenz Type |
|
Optic disc coloboma, Microphthalmia, Chorioretinal coloboma |
ORPHA:568 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma |
OMIM:184705 |
Aicardi Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Chorioretinal coloboma, Retin... |
ORPHA:50 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Optic atrophy |
OMIM:618727 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
Tay-Sachs Disease |
|
Exaggerated startle response, Optic atrophy, Tremor, Laryngeal dystonia, Dystonia, Cherry red spo... |
ORPHA:845 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Gracile Bone Dysplasia |
|
Microphthalmia, Aniridia |
OMIM:602361 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Sandhoff Disease |
|
Exaggerated startle response, Cherry red spot of the macula |
OMIM:268800 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Dystonia, Microphthalmia, Optic atrophy |
OMIM:251300 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Incontinentia Pigmenti |
|
Retinal hemorrhage, Retinal vascular proliferation, Abnormal chorioretinal morphology, Microphtha... |
ORPHA:464 |
Xeroderma Pigmentosum, Complementation Group D |
|
Choreoathetosis, Microphthalmia |
OMIM:278730 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Stromme Syndrome |
|
Retinal vascular tortuosity, Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Optic atrophy, Retinal atrophy, Retinal degeneration, Buphthalmos, Reti... |
OMIM:253280 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos |
ORPHA:369891 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Cockayne Syndrome Type 3 |
|
Retinal hemorrhage, Retinal atrophy, Retinal degeneration, Retinal dystrophy, Microphthalmia, Opt... |
ORPHA:90324 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Microphthalmia, Retinal coloboma |
OMIM:607323 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Retinal coloboma |
ORPHA:2839 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Abnormal optic nerve morphology, Anophthalmia |
ORPHA:3412 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia, Optic atrophy |
ORPHA:521426 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Cockayne Syndrome |
|
Pigmentary retinopathy, Retinal hemorrhage, Retinal arteriolar constriction, Optic atrophy, Retin... |
ORPHA:191 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia, Cherry red spot of the macula |
ORPHA:79255 |
Hallermann-Streiff Syndrome |
|
Optic disc coloboma, Choreoathetosis, Microphthalmia, Chorioretinal coloboma |
OMIM:234100 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Holoprosencephaly |
|
Retinopathy, Anophthalmia, Optic atrophy, Microphthalmia, Chorioretinal coloboma, Dystonia |
ORPHA:2162 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Momo Syndrome |
|
Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
3Q29 Microduplication Syndrome |
|
Microphthalmia, Aniridia |
ORPHA:251038 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:268249 |
Aicardi Syndrome |
|
Optic atrophy, Microphthalmia, Retinal detachment, Optic disc coloboma, Chorioretinal lacunae |
OMIM:304050 |
Jacobsen Syndrome |
|
Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Optic atrophy |
OMIM:147791 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Optic atrophy |
OMIM:617527 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Vitritis, Retinal dystrophy, Abnormality of retinal pigmentation, Retinal dysplasia... |
ORPHA:2556 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Premature Aging Syndrome, Penttinen Type |
|
Hypermyelinated retinal nerve fibers, Microphthalmia |
OMIM:601812 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia, Chorioretinal coloboma |
ORPHA:2092 |
Trisomy 18 |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:3380 |
Acro-Renal-Ocular Syndrome |
|
Optic disc coloboma, Optic disc hypoplasia, Microphthalmia, Chorioretinal coloboma |
ORPHA:959 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia |
OMIM:619148 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Optic atrophy |
OMIM:201180 |
Cat Eye Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:115470 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Monosomy 9Q22.3 |
|
Retinopathy, Microphthalmia |
ORPHA:77301 |
Cockayne Syndrome B |
|
Optic atrophy, Hypoplasia of the iris, Tremor, Microphthalmia, Pigmentary retinopathy |
OMIM:133540 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Rod-cone dystrophy, Microphthalmia |
OMIM:223370 |
2Q31.1 Microdeletion Syndrome |
|
Optic disc coloboma, Microphthalmia |
ORPHA:251014 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy, Microphthalmia |
OMIM:309801 |
Meckel Syndrome |
|
Anophthalmia, Optic atrophy, Aplasia/Hypoplasia of the iris, Abnormal chorioretinal morphology, M... |
ORPHA:564 |
Trichothiodystrophy |
|
Retinal degeneration, Bilateral microphthalmos, Macular degeneration, Intention tremor |
ORPHA:33364 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Peripapillary atrophy, Hypoplasia of the iris, Limb dystonia, Retinal arterio... |
OMIM:175780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal optic disc morphology, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia |
ORPHA:508498 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
Mosaic Trisomy 9 |
|
Microphthalmia |
ORPHA:99776 |
Phace Syndrome |
|
Lens coloboma, Retinal vascular malformation, Microphthalmia, Optic nerve hypoplasia |
ORPHA:42775 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Optic atrophy, Congenital aphakia |
ORPHA:137675 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia |
OMIM:264480 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
Norrie Disease |
|
Optic atrophy, Hypoplasia of the iris, Abnormal chorioretinal morphology, Remnants of the hyaloid... |
ORPHA:649 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Papilledema, Retinal calcification |
ORPHA:93325 |
Meckel Syndrome 14 |
|
Microphthalmia |
OMIM:619879 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Chromosome 13Q14 Deletion Syndrome |
|
Retinoblastoma, Microphthalmia, Chorioretinal coloboma |
OMIM:613884 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Optic atrophy |
OMIM:616975 |
Microphthalmia With Limb Anomalies |
|
True anophthalmia, Microphthalmia, Optic atrophy |
ORPHA:1106 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma |
ORPHA:141099 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:250989 |
Cousin Syndrome |
|
Microphthalmia |
OMIM:260660 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Phthis... |
OMIM:300166 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia |
OMIM:616300 |
Monosomy 13Q14 |
|
Retinoblastoma, Microphthalmia |
ORPHA:1587 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Pallister-Hall Syndrome |
|
Microphthalmia |
OMIM:146510 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Optic disc pallor, Attenuation of retinal blood vessels, Optic nerve hy... |
ORPHA:468631 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Treacher-Collins Syndrome |
|
Blepharospasm, Microphthalmia |
ORPHA:861 |
Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Microphthalmia, Chorioretinal dysplasia |
ORPHA:534 |
Microphthalmia, Syndromic 9 |
|
Bilateral microphthalmos, Anophthalmia |
OMIM:601186 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia |
OMIM:109400 |
22Q11.2 Deletion Syndrome |
|
Retinal arteriolar tortuosity, Microphthalmia, Optic atrophy |
ORPHA:567 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Torticollis, Microphthalmia |
OMIM:609945 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia |
OMIM:268400 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia |
OMIM:227646 |
Charge Syndrome |
|
Chorioretinal coloboma, Microphthalmia, Optic atrophy, Anophthalmia |
ORPHA:138 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia |
OMIM:614083 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia |
ORPHA:1052 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia |
ORPHA:2166 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia |
OMIM:263650 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia |
OMIM:620005 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Optic atrophy, Microphthalmia, Chorioretinal coloboma, Aniridia |
OMIM:305600 |
Holoprosencephaly 7 |
|
Bilateral microphthalmos, Microphthalmia |
OMIM:610828 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:84 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Myhre Syndrome |
|
Microphthalmia |
OMIM:139210 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Microphthalmia, Chorioretinal coloboma |
OMIM:157170 |
Roberts Syndrome |
|
Microphthalmia |
ORPHA:3103 |
Fryns Syndrome |
|
Microphthalmia |
OMIM:229850 |
Meckel Syndrome, Type 1 |
|
Microphthalmia |
OMIM:249000 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Degcags Syndrome |
|
Microphthalmia |
OMIM:619488 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Microphthalmia, Lens coloboma |
OMIM:619539 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Microphthalmia |
OMIM:612474 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Charge Syndrome |
|
Microphthalmia, Unilateral microphthalmos, Retinal coloboma, Anophthalmia |
OMIM:214800 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Yunis-Varon Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:3472 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Retinal dystrophy, Anophthalmia |
OMIM:607932 |
Fontaine Progeroid Syndrome |