Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair, Ataxia |
OMIM:190200 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... |
ORPHA:170 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Gait ataxia, Fair hair, Developmental cataract |
OMIM:618808 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Spastic ataxia, Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... |
OMIM:619947 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... |
OMIM:601706 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia |
ORPHA:3177 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... |
ORPHA:2885 |
Oculocerebral Syndrome With Hypopigmentation |
|
Athetosis, Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly |
ORPHA:2432 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin... |
OMIM:277580 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... |
OMIM:256710 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Piebald Trait With Neurologic Defects |
|
Absent pigmentation of the ventral chest, White forelock, Ataxia |
OMIM:172850 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Griscelli Syndrome Type 1 |
|
Ataxia, Partial albinism, White hair, Premature graying of hair, Iris hypopigmentation |
ORPHA:79476 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm... |
ORPHA:2884 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypop... |
ORPHA:33445 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... |
ORPHA:3437 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, Iris hypopigmen... |
ORPHA:411515 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia |
OMIM:615524 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... |
ORPHA:897 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Hepatomegaly |
OMIM:613730 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microphthalmia, Hepati... |
OMIM:618805 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa... |
OMIM:602400 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... |
OMIM:614170 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair |
OMIM:229200 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormali... |
ORPHA:79432 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... |
ORPHA:352731 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Microphthalmia, Jaundice, Hepatomegaly |
ORPHA:858 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Waddling gait, Silver-gray hair, Multiple lentigines, Spastic gait, Vitiligo |
ORPHA:101003 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Ataxia, Premature graying of hair, Gait disturbance, Multiple cafe-au-l... |
ORPHA:100 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Gait imbalance, Hypopigmentation of the skin, Iris hy... |
ORPHA:98795 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,... |
ORPHA:411511 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Unilateral microphthalmos |
OMIM:615085 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Inability to walk, Hypopigmentation of hair, Ataxia |
ORPHA:70472 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin |
ORPHA:79254 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov... |
ORPHA:163934 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre... |
ORPHA:3440 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... |
OMIM:611584 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hepatomegaly |
OMIM:619053 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Biliary tract abnormality |
ORPHA:3191 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Nail dystrop... |
ORPHA:3322 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Matthew-Wood Syndrome |
|
Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann... |
ORPHA:2470 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Bresek Syndrome |
|
Neonatal death, Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Hermansky-Pudlak Syndrome 11 |
|
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair |
OMIM:619172 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,... |
ORPHA:98794 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Joubert Syndrome 37 |
|
Microphthalmia, Hepatomegaly |
OMIM:619185 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Iris hyp... |
ORPHA:2719 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation |
OMIM:603194 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Ataxia, Silver-gray hair, Ocular albinism, Giant melanosomes in melanoc... |
OMIM:214500 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microphthalmia |
OMIM:612379 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... |
ORPHA:238468 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, White eyebrow, Partial albinism, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611134 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma... |
ORPHA:79430 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Splenic rupture |
ORPHA:335 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Premat... |
ORPHA:163746 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Adams-Oliver Syndrome |
|
Microphthalmia, Congenital hepatic fibrosis, Cirrhosis, Portal hypertension |
ORPHA:974 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia |
ORPHA:494344 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Refsum Disease |
|
Splenomegaly, Microphthalmia |
ORPHA:773 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Cataract, Abnormality of hair texture |
ORPHA:96169 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Stromme Syndrome |
|
Accessory spleen, Microphthalmia, Stillbirth, Optic nerve hypoplasia |
OMIM:243605 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ... |
ORPHA:233 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos |
ORPHA:369891 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Ataxia, Inability to walk, Large c... |
ORPHA:167 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Microphthalmia |
OMIM:251230 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Joubert Syndrome 14 |
|
Microphthalmia |
OMIM:614424 |
Meckel Syndrome |
|
Accessory spleen, Anophthalmia, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancr... |
ORPHA:564 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Mosaic Trisomy 9 |
|
Asplenia, Microphthalmia, Abnormal liver lobulation |
ORPHA:99776 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Meckel Syndrome 14 |
|
Microphthalmia, Hepatic fibrosis |
OMIM:619879 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Mosaic Trisomy 1 |
|
Microphthalmia, Hepatic agenesis |
ORPHA:1692 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia |
ORPHA:2505 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Hep... |
OMIM:620005 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
Vici Syndrome |
|
Hypopigmentation of hair, Cataract, Albinism, Ocular albinism, Developmental cataract, Hypopigmen... |
OMIM:242840 |
Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia |
OMIM:619148 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... |
ORPHA:84064 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Cholelithiasis |
ORPHA:464738 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Steinfeld Syndrome |
|
Microphthalmia, Absent gallbladder |
OMIM:184705 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Neonatal death, Hypoplastic spleen |
OMIM:601186 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Cat Eye Syndrome |
|
Microphthalmia, Biliary atresia |
OMIM:115470 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia, Acute hepatic failure |
ORPHA:2092 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Microphthalmia, Absent gallbladder |
OMIM:617925 |
Cohen Syndrome |
|
Microphthalmia |
ORPHA:193 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia, Stillbirth |
OMIM:616300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia |
OMIM:253800 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
OMIM:607323 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
Oculoauricular Syndrome |
|
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
Joubert Syndrome 2 |
|
Microphthalmia |
OMIM:608091 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia |
OMIM:264480 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Jacobsen Syndrome |
|
Microphthalmia, Annular pancreas, Macular hypoplasia |
OMIM:147791 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia, Hepatomegaly |
ORPHA:2538 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Optic nerve hypoplasia |
OMIM:236670 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Pallister-Hall Syndrome |
|
Neonatal death, Microphthalmia |
OMIM:146510 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Congenital aphakia, Hepatomegaly |
ORPHA:137675 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
Holoprosencephaly |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia |
ORPHA:2162 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:250989 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos |
ORPHA:2839 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
OMIM:234100 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
Cousin Syndrome |
|
Microphthalmia |
OMIM:260660 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Trisomy 18 |
|
Microphthalmia |
ORPHA:3380 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:223370 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Annular pancreas |
OMIM:268400 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Fryns Syndrome |
|
Microphthalmia, Stillbirth, Ectopic pancreatic tissue, Polysplenia |
OMIM:229850 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Annular pancreas |
OMIM:227646 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Exocrine pancreatic insufficiency |
ORPHA:508498 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Microphthalmia, Splenomegaly, Hepatomegaly |
ORPHA:90324 |
Cockayne Syndrome B |
|
Hypoplasia of the iris, Microphthalmia, Splenomegaly, Hepatomegaly |
OMIM:133540 |
Incontinentia Pigmenti |
|
Microphthalmia |
ORPHA:464 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Abdominal situs inversus |
ORPHA:2108 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Bile duct pro... |
OMIM:249000 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Cataract, Sclerocornea, Abnormal eyelash morphology, Iris coloboma |
ORPHA:818 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Absent gallbladder |
ORPHA:3186 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigmentary retinopathy, Recurrent ... |
OMIM:219800 |
Aicardi Syndrome |
|
Hepatoblastoma, Microphthalmia |
ORPHA:50 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Annular pancreas |
OMIM:616975 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Monosomy 9Q22.3 |
|
Microphthalmia |
ORPHA:77301 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... |
OMIM:619488 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia |
OMIM:109400 |
Aicardi Syndrome |
|
Hepatoblastoma, Microphthalmia |
OMIM:304050 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormality of the liver |
ORPHA:84 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia |
OMIM:614083 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Cockayne Syndrome |
|
Splenomegaly, Microphthalmia, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:191 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia |
ORPHA:1052 |
Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
22Q11.2 Deletion Syndrome |
|
Splenomegaly, Microphthalmia, Cholelithiasis |
ORPHA:567 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia |
OMIM:263650 |
Treacher-Collins Syndrome |
|
Microphthalmia |
ORPHA:861 |
Trichothiodystrophy |
|
Bilateral microphthalmos |
ORPHA:33364 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia |
ORPHA:2166 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Microphthalmia |
ORPHA:534 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia |
OMIM:309801 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Prolonged neonatal jaundice |
OMIM:620186 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia |
OMIM:273395 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Fontaine Progeroid Syndrome |
|
Neonatal death, Microphthalmia |
OMIM:612289 |
Myhre Syndrome |
|
Microphthalmia |
OMIM:139210 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Roberts Syndrome |
|
Microphthalmia |
ORPHA:3103 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Phthisis bulbi, Anophthalmia |
OMIM:300166 |
Neu-Laxova Syndrome 1 |
|
Neonatal death, Microphthalmia, Stillbirth |
OMIM:256520 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Microphthalmia, Stillbirth |
OMIM:236680 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:138 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Yunis-Varon Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:3472 |
Focal Dermal Hypoplasia |
|
Aniridia, Microphthalmia, Anophthalmia |
OMIM:305600 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia |
OMIM:613884 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma |
OMIM:619539 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Microphthalmia, Stillbirth, Biliary tract abnormality |
OMIM:268300 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos |
ORPHA:93325 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia, Unilateral microphthalmos |
OMIM:214800 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
8Q24.3 Microdeletion Syndrome |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Exocrine pancreatic insufficiency |
ORPHA:508488 |
Witteveen-Kolk Syndrome |
|
Microphthalmia |
OMIM:613406 |
Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Pallister-Hall Syndrome |
|
Microphthalmia |
ORPHA:672 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:113620 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
Townes-Brocks Syndrome |
|
Microphthalmia |
ORPHA:857 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Microphthalmia |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Asplenia, Microphthalmia |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Microphthalmia |
ORPHA:261552 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |