Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Elevated urinary phenylpyruvic acid leve... |
OMIM:261600 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401830 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Short attention span, Abno... |
ORPHA:500166 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... |
OMIM:604213 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Coloboma |
OMIM:251505 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C... |
OMIM:615771 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebr... |
OMIM:616171 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum |
OMIM:274270 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to ... |
OMIM:275400 |
Mucolipidosis Iv |
|
Corneal opacity, Cerebral dysmyelination, Microcephaly, Progressive neurologic deterioration, Dys... |
OMIM:252650 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... |
OMIM:103500 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Agenesis of corpus callosum, Microcephaly |
OMIM:616570 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation |
ORPHA:99000 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract, Cerebral cortical atrophy, Microcephaly |
ORPHA:291 |
Usher Syndrome Type 3 |
|
Cataract, Ataxia, Depression, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Polyphagia, Inappropriate laug... |
ORPHA:411515 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut... |
OMIM:615516 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Simplified gyral pattern, Coloboma, Abnormal cerebral white matter mor... |
OMIM:613153 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Polyphagia,... |
ORPHA:177910 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Aggressive behavior, Hypogonadism, Abnormality of macular pigmentation... |
ORPHA:97229 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Microcephaly, Microcornea, Chorioretinal coloboma, Micropht... |
ORPHA:139471 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... |
OMIM:619947 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... |
OMIM:608716 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract, Microcephaly |
ORPHA:2528 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iri... |
ORPHA:79476 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ... |
OMIM:610031 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Usher Syndrome Type 1 |
|
Depression, Cataract, Ataxia, Iris hypopigmentation |
ORPHA:231169 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Warburg Micro Syndrome 1 |
|
Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Developmental cataract, Microcornea, ... |
OMIM:600118 |
Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Lissencephaly, Microphthalmia, Agenesis of corp... |
OMIM:218670 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract, Microcephaly |
OMIM:278780 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Aggressive behavior, Cryptorchidism, Blue irides, Self-injurious b... |
OMIM:300978 |
Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... |
OMIM:614019 |
Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Congenital hypothyroi... |
OMIM:614613 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:171703 |
Morm Syndrome |
|
Hyperactivity, Cataract, Retinal dystrophy, Retinal atrophy, Aggressive behavior, Micropenis |
ORPHA:75858 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Microcephaly, Coloboma, Progressive microcephaly, Lissencephaly... |
OMIM:615249 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Cataract, Hypoglycemia, Iris hypopigmentation |
ORPHA:67048 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Lissencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:1528 |
Martsolf Syndrome 2 |
|
Cataract, Microcephaly, Developmental cataract, Lateral ventricle dilatation, Hypoplasia of the c... |
OMIM:619420 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of... |
OMIM:618492 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Microphthalmia, Syndromic 13 |
|
Microcephaly, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:300915 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Coloboma |
OMIM:616490 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Coloboma, Microphthalmia, Ocular anterior segment dysgenesis, Type II lis... |
ORPHA:324416 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cataract, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Prima... |
OMIM:615095 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs of the internal capsule,... |
ORPHA:171680 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract, Agenesis of corpus callosum |
ORPHA:93267 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin... |
OMIM:277580 |
Temtamy Syndrome |
|
Ectopia lentis, Lens luxation, Thick corpus callosum, Chorioretinal coloboma, Microphthalmia, Age... |
OMIM:218340 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum |
OMIM:166990 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
External genital hypoplasia, Self-mutilation, Unsteady gait, Blue irides, Dysmetria, Hypogonadism... |
ORPHA:3041 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co... |
ORPHA:1473 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ... |
OMIM:614833 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, I... |
ORPHA:411511 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Hyperlysinuria, Ectopia lentis |
OMIM:238700 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Hyperactivity, Broad-based gait, Precocious puberty in females, A... |
ORPHA:72 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Cataract, Coloboma, Microphthalmia, Agenesis of corpus callosum |
OMIM:136760 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma |
ORPHA:1617 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Microphthalmia, Pachygyria |
OMIM:251270 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Gombo Syndrome |
|
Microphthalmia, Microcephaly |
OMIM:233270 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Lissencephaly 8 |
|
Cataract, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Polymicrogyria, Agyria... |
OMIM:617255 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Polymicrogyria, Retinal coloboma, Microphthalmia, Pachygyria, Iris co... |
ORPHA:2328 |
Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... |
OMIM:605899 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Cofs Syndrome |
|
Cerebral calcification, Cataract, Microcephaly, Microphthalmia, Cerebral cortical atrophy |
ORPHA:1466 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... |
ORPHA:54 |
Baraitser-Winter Syndrome 2 |
|
Coloboma, Lissencephaly, Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corpus c... |
OMIM:614583 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal eating behavior, Tong... |
ORPHA:98794 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... |
ORPHA:66624 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:98793 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of corpus callosum |
OMIM:614402 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:164180 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:98754 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Micropht... |
OMIM:614105 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:177901 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Agenesis of corpus callosum, Iris coloboma |
ORPHA:1553 |
Free Sialic Acid Storage Disease |
|
Ataxia, Proteinuria, Abnormality of skin pigmentation, Athetosis, Nephrotic syndrome, Gait distur... |
ORPHA:834 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Cerebral atrophy, Developmental cataract, Lateral ventricle dilatation, Microphthal... |
OMIM:614219 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Optic nerve hypoplasia, Microcephaly, Diffuse white matter abnormalities, Abnormality i... |
ORPHA:370959 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy... |
OMIM:239500 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm... |
ORPHA:98795 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microcephaly, Developmental cataract, Hypoplasia of the corpus callosum, Microphthalmia, Focal co... |
OMIM:613155 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera... |
ORPHA:77299 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract |
OMIM:611040 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus... |
OMIM:619955 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r... |
ORPHA:79432 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Cataract, Progressive neurologic deterioration, Microcephaly, Basal gan... |
OMIM:214150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cataract, Optic nerve hypoplasia, Leukoencephalopathy, Microphthalmia, Polymicrogyria, Type II li... |
OMIM:615181 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Aminoa... |
OMIM:214110 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Sclerocornea, Microphthalmia, Agenesis of corpus callosum, Iris coloboma |
ORPHA:77298 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Microcephaly, Astigmatism, Microphthalmia, Thin corpus callosum |
OMIM:619694 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Irregular hyperpigmentation, Hetero... |
ORPHA:2885 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Neu... |
OMIM:234500 |
Woolly Hair Nevus |
|
Precocious puberty, Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary m... |
ORPHA:79414 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Hypos... |
ORPHA:912 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... |
ORPHA:83461 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... |
OMIM:193510 |
Walker-Warburg Syndrome |
|
Anophthalmia, Corneal opacity, Cataract, Absent septum pellucidum, Abnormal cortical gyration, Mi... |
ORPHA:899 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:300887 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypot... |
OMIM:619927 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Blue irides, Progressive gait ataxia, Fair hair, Hypopig... |
OMIM:105830 |
Usher Syndrome Type 2 |
|
Depression, Cataract, Ataxia, Iris hypopigmentation |
ORPHA:231178 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Cataract, Diabetes mellitus, Diabetes insipidus, Ataxia, Hydroureter, Hypothy... |
OMIM:222300 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract, Cerebral cortical atrophy |
ORPHA:48431 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
OMIM:601794 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
ORPHA:363741 |
Noonan Syndrome 13 |
|
Aggressive behavior, Cryptorchidism, Blue irides, Head-banging, Multiple lentigines, Attention de... |
OMIM:619087 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Hypospadias, Adrenal hypoplasia, Brushfield spots, Cryptorchidism, U... |
OMIM:214100 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly |
OMIM:619466 |
Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty, Congenital stationary ... |
ORPHA:90646 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma |
OMIM:613094 |
Spondylo-Ocular Syndrome |
|
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ataxia, Ureteral stenosis, Cryptorchidism, O... |
ORPHA:2719 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:1777 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Agyria, Partial agenes... |
OMIM:614643 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Renal insufficiency, Irregular menstruation, A... |
OMIM:615986 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Cortical dysplasia, Porencephalic cyst, Hypoplasia of the iris, Hypoplasia of the c... |
OMIM:613001 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Microcephaly, Myopic astigmatism, Simplified gyral pattern, Microcorne... |
OMIM:152950 |
Band Heterotopia |
|
Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of corpus callosum, Polymicr... |
OMIM:600348 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Agenesis of corpus callosum, Iris c... |
ORPHA:3301 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions, Developmental cataract |
ORPHA:557003 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Memory impairment, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt... |
OMIM:619737 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cataract, Secondary microcephaly |
OMIM:613730 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:212550 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Blue ... |
OMIM:614077 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Microcephaly, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmi... |
OMIM:613150 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcephaly, Partial agenesis of the corpus callosum, Microcornea, Keratoconjunctivitis sicca, M... |
OMIM:234050 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lateral ventricle dilatation, Lens coloboma, Hypoplasia of the corpus callosum |
OMIM:618914 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum, Developmental cataract |
OMIM:618810 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel... |
OMIM:148820 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Microcornea, Peters anomaly, Microp... |
OMIM:243605 |
Baraitser-Winter Syndrome 1 |
|
Microcephaly, Lissencephaly, Chorioretinal coloboma, Microphthalmia, Pachygyria, Agenesis of corp... |
OMIM:243310 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... |
OMIM:611584 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia, Microcephaly |
OMIM:601349 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Wyburn-Mason Syndrome |
|
Irritability, Retinal vascular malformation, Iris hypopigmentation |
ORPHA:53719 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Astigmatism, Microp... |
OMIM:609053 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Hypospadias, Brushfield spots, Conjugated hyperbilirubinemia, Cryptorchidism, Optic ner... |
OMIM:614866 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Griscelli Syndrome |
|
Ataxia, Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of hair, Abno... |
ORPHA:381 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... |
OMIM:616900 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def... |
OMIM:619172 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Microcephaly, Cataract, Developmental cataract |
OMIM:610756 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Corneal opacity, Dysplastic corpus callosum, Abnormal cornea morphology, S... |
ORPHA:357058 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia, Abnormal cortical gyration, Primary microcephaly |
ORPHA:487825 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Bradykinesia, Self... |
OMIM:619827 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Abnormal ... |
ORPHA:481 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Microcephaly, Cerebral atrophy, Microcornea, Hypoplasia of the corpus callosum, Microph... |
OMIM:616449 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Lateral ventricle dilatation, Agenesis of corpus callosum, Sclerocornea |
OMIM:300952 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma |
ORPHA:1791 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the p... |
ORPHA:2969 |
Septooptic Dysplasia |
|
Agenesis of corpus callosum, Absent septum pellucidum, Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... |
ORPHA:79477 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia, Cavum septum pell... |
OMIM:617306 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, ... |
OMIM:206900 |
Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Menometrorrhagia, Anorexia, Renal insuffici... |
ORPHA:79430 |
Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Microcephaly, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration, Dysp... |
OMIM:313200 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Hypospadias, Hypopigmented skin patches, Bifid scrotum |
ORPHA:1784 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Iris hypopigmentation |
ORPHA:284160 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Metrorrhagia, Albinism, Ocular albinism, Iris transillumination defect, ... |
OMIM:614074 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... |
ORPHA:248111 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Ataxia, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Edinburgh Malformation Syndrome |
|
Brushfield spots |
ORPHA:1895 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:627 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, B... |
OMIM:221900 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... |
ORPHA:2524 |
Familial Dysautonomia |
|
Hyponatremia, Renal insufficiency, Corneal opacity, Ataxia, Abnormal pupil morphology, Corneal er... |
ORPHA:1764 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cataract, Agyria, Hypoplasia of the pyramidal tract, Lissencephaly, Microphthalmia, Pachygyria, A... |
OMIM:253800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Agyria, Microcephaly, Buphthalmos, Coloboma, H... |
OMIM:236670 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... |
OMIM:613266 |
Koolen-De Vries Syndrome |
|
Hyperactivity, Cataract, Impulsivity, Cryptorchidism, Vesicoureteral reflux, Fair hair, Hydroneph... |
OMIM:610443 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Warburg Micro Syndrome 3 |
|
Cataract, Microcephaly, Developmental cataract, Microcornea, Shallow anterior chamber, Secondary ... |
OMIM:614222 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... |
OMIM:120200 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... |
OMIM:101800 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract |
OMIM:618805 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
ORPHA:177907 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia, Microcephaly |
OMIM:602342 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Coloboma, Microphthalmia |
OMIM:610125 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Absent septum pellucidum, Sclerocornea, Microcephaly, Colpocephaly, Peters anomaly, Mic... |
OMIM:309801 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Myotonic Dystrophy 1 |
|
Cataract, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy |
OMIM:160900 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, ... |
OMIM:615145 |
Mmep Syndrome |
|
Microphthalmia, Microcephaly |
ORPHA:3434 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Noonan Syndrome 4 |
|
Cryptorchidism, Ureteral duplication, Blue irides, Hydronephrosis |
OMIM:610733 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Agenesis of corpus callosum, Abnormally prominent line of Schwalbe |
OMIM:109120 |
Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Ataxia, Band keratop... |
OMIM:267750 |
Joubert Syndrome 22 |
|
Microphthalmia, Hypoplasia of the corpus callosum, Temporal cortical atrophy, Coloboma |
OMIM:615665 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cataract, Polymicrogyria, Coloboma |
OMIM:612379 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Cerebral calcification, Buphthalmos, Hypoplasia of the corpus callosum, Microphthalmia,... |
OMIM:616538 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Microcephaly, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Mental deteriorati... |
OMIM:278730 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Posterior polar cataract, Neurofibrillary tangles, Dementia, Cerebral amyloid angiopathy |
OMIM:117300 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Secondary microcephaly, Coloboma, Peters anomaly |
OMIM:618652 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Piebaldism, Hypopigmented skin ... |
ORPHA:2884 |
Hydrolethalus |
|
Anophthalmia, Absent septum pellucidum, Anencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:2189 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h... |
OMIM:612109 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Warburg Micro Syndrome 2 |
|
Cataract, Microcephaly, Developmental cataract, Microcornea, Secondary microcephaly, Hypoplasia o... |
OMIM:614225 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... |
OMIM:193500 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Curry-Jones Syndrome |
|
Megalencephaly, Hemimegalencephaly, Microphthalmia, Polymicrogyria, Agenesis of corpus callosum, ... |
OMIM:601707 |
Rere-Related Neurodevelopmental Syndrome |
|
Astigmatism, Chorioretinal coloboma, Peters anomaly, Hypoplasia of the corpus callosum, Microphth... |
ORPHA:494344 |
1Q21.1 Microdeletion Syndrome |
|
Cataract, Microcephaly, Attention deficit hyperactivity disorder, Microphthalmia, Agenesis of cor... |
ORPHA:250989 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Lens coloboma, Agenesis of corpus c... |
ORPHA:42775 |
Warburg Micro Syndrome 4 |
|
Perisylvian polymicrogyria, Developmental cataract, Microcornea, Secondary microcephaly, Hypoplas... |
OMIM:615663 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Ataxia, Silver-gray hair, Ocular albinism, Giant melanosomes in melanoc... |
OMIM:214500 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Microcephaly, Simplified gyral pattern, Colpocephaly, Macular hypoplasia, Lissencephaly, Choriore... |
OMIM:615219 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Coloboma |
ORPHA:141333 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly... |
OMIM:222100 |
Congenital Toxoplasmosis |
|
Microphthalmia, Cerebral calcification, Cognitive impairment, Microcephaly |
ORPHA:858 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Microcephaly, Bilateral microphthalmos, Coloboma, Microphthalmia, Conj... |
ORPHA:2399 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmatism, Astigmatism, Tics, Low... |
ORPHA:363686 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Microcephaly |
OMIM:257910 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Hypopigmented skin patches,... |
ORPHA:894 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, At... |
ORPHA:636 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormal iris pigmentation, Antecubital pterygium, Primary cong... |
ORPHA:2614 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Primary microcephaly, Hypoplasia of the corpus callosum, Developmental cataract |
OMIM:618804 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Type II lissencephaly |
OMIM:614830 |
Micro Syndrome |
|
Cataract, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Microcornea, Retinal coloboma,... |
ORPHA:2510 |
Vitreoretinochoroidopathy |
|
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract |
OMIM:193220 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, A... |
OMIM:235200 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Hydrocephalus, Congenital, X-Linked |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:307000 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Agenesis of corpus callosum |
ORPHA:228390 |
Trisomy 13 |
|
Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Cognitive impairment, Microphthalmia, Iri... |
ORPHA:3378 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca... |
OMIM:619103 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility, Ataxia |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, Microcephaly, Leukocoria, Aplasia/Hypoplasia o... |
ORPHA:2714 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
OMIM:160565 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... |
ORPHA:167 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Agenesis of corpus callosum, Iris coloboma, Chorioretinal coloboma |
ORPHA:268249 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Cerebral atrophy, Developmental cataract, Microcornea, Lateral ventricle dilatation... |
ORPHA:464738 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia |
OMIM:615877 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:2788 |
Waardenburg Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature... |
ORPHA:3440 |
Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus |
OMIM:300500 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Ataxia, Hypothyroidism, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, ... |
ORPHA:2479 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Astigmatism, Gait disturbance, Low... |
ORPHA:168491 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Microcephaly, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Bresek Syndrome |
|
Microphthalmia, Iris coloboma, Optic nerve hypoplasia, Microcephaly |
ORPHA:85284 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E... |
ORPHA:465508 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Cavum septum pellucidum, Polymicrogyria, Megalencephaly |
OMIM:602501 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... |
ORPHA:100924 |
Microphthalmia, Lenz Type |
|
Cataract, Microcephaly, Optic disc coloboma, Aplasia/Hypoplasia of the corpus callosum, Microcorn... |
ORPHA:568 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Dysmetria, Nephrocalcino... |
ORPHA:904 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:614082 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrhea, ... |
OMIM:157640 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Optic disc coloboma, Microcornea, Hydronephrosis, Retinoschisis, Heterochromia iridi... |
ORPHA:2995 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Woolly Hair |
|
Abnormal retinal morphology, Abnormal pupil morphology, Cataract, Hypopigmentation of hair |
ORPHA:170 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Ectopic kidney, Ab... |
ORPHA:233 |
Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology |
ORPHA:370091 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Cataract, Agenesis of corpus callosum, Pericallosal lipoma |
ORPHA:306542 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Microcephaly |
ORPHA:3469 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hydroureter, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypo... |
OMIM:604292 |
Kapur-Toriello Syndrome |
|
Cataract, Polymicrogyria, Retinal coloboma, Microphthalmia, Pachygyria, Iris coloboma |
OMIM:244300 |
Frontorhiny |
|
Pericallosal lipoma, Cataract, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, Iris co... |
ORPHA:391474 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly |
OMIM:619318 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental... |
ORPHA:2119 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Un... |
OMIM:308750 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Cataract, Microcephaly |
ORPHA:891 |
Oculofaciocardiodental Syndrome |
|
Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Abnormal repeti... |
ORPHA:649 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:616395 |
Nail-Patella Syndrome |
|
Keratoconus, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Antecubital pterygiu... |
OMIM:161200 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Opacification of the corneal stroma, Microphthalmia, Polymicrogyria... |
ORPHA:1692 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia, Coloboma |
OMIM:167730 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract |
ORPHA:163649 |
Chromosome 13Q14 Deletion Syndrome |
|
Absent septum pellucidum, Chorioretinal coloboma, Hypoplasia of the corpus callosum, Microphthalm... |
OMIM:613884 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Basal ganglia calcification, Cataract, Microcephaly |
OMIM:610651 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hydroureter, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypo... |
OMIM:129900 |
Neuhauser Syndrome |
|
Iridodonesis, Ataxia, Hypoplasia of the iris, Primary hypothyroidism, Dysphagia, Hypercholesterol... |
OMIM:249310 |
Short Syndrome |
|
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res... |
ORPHA:3163 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus |
OMIM:614171 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... |
OMIM:256800 |
Aicardi Syndrome |
|
Cataract, Microcephaly, Partial agenesis of the corpus callosum, Optic disc coloboma, Lateral ven... |
OMIM:304050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Microphallus, Low frustration toleranc... |
OMIM:300486 |
Hartsfield Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:2117 |
Fryns Syndrome |
|
Microphthalmia, Agenesis of corpus callosum, Corneal opacity, Cerebral cortical atrophy |
ORPHA:2059 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia |
OMIM:615113 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Astigmatism, Retinal coloboma, Cataract |
OMIM:618571 |
Vici Syndrome |
|
Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Macular a... |
OMIM:242840 |
Hermansky-Pudlak Syndrome 4 |
|
Menorrhagia, Hypoplasia of the fovea, Ocular albinism, Albinism |
OMIM:614073 |
Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Basal ganglia calcification, Cerebral calcification, Microcephaly |
OMIM:617281 |
Pseudotrisomy 13 Syndrome |
|
Microcephaly, Microphthalmia, Cyclopia, Polymicrogyria, Agenesis of corpus callosum |
OMIM:264480 |
Marden-Walker Syndrome |
|
Microphthalmia, Agenesis of corpus callosum, Microcephaly |
OMIM:248700 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Developmental cataract |
ORPHA:335 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Shallow anterior chamber |
OMIM:305390 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Choreoathetosis, Self-injurious behavior, Nephrocalcinosis, Hyp... |
OMIM:300322 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... |
ORPHA:790 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroidism, Depressio... |
ORPHA:449291 |
1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Abnormality iris morphology |
ORPHA:250999 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Microcephaly |
OMIM:308350 |
Refsum Disease |
|
Microphthalmia, Cataract |
ORPHA:773 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, White eyebrow, Ataxia, Cryptorchidism, Hypopigmented skin patches, White foreloc... |
OMIM:609136 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia, Microcephaly |
OMIM:613885 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Astigmatism, Secondary microc... |
OMIM:618820 |
Williams-Beuren Syndrome |
|
Premature graying of hair, Early onset of sexual maturation, Glucose intolerance, Nephrocalcinosi... |
OMIM:194050 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Hypoplasia of the corpus callosum, Coloboma |
OMIM:611961 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Microphthalmia, Megalocornea, Agenesis of corpus callosum, Congenital aphakia |
ORPHA:137675 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microcephaly, Coloboma, Microphthalmia, Cyclopia |
OMIM:147250 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia |
ORPHA:411777 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Choroidal neovascularization, Elevated circulating C-reactive protein concentration, Anorexia, St... |
ORPHA:91500 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Attention deficit hyperactivity disorder, Microcephaly |
ORPHA:65286 |
Juvenile Xanthogranuloma |
|
Multiple cafe-au-lait spots, Uveitis, Iritis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Cataract, Hypoplasia of the corpus callosum, Sclerocornea |
OMIM:614230 |
Hermansky-Pudlak Syndrome 6 |
|
Albinism, Ocular albinism, Absent foveal reflex, Macular hypoplasia, Hypopigmentation of the skin |
OMIM:614075 |
Nephronophthisis 11 |
|
Polyuria, Stage 5 chronic kidney disease, Anisocoria, Renal corticomedullary cysts, Nephronophthi... |
OMIM:613550 |
Adams-Oliver Syndrome |
|
Microphthalmia, Cataract, Porencephalic cyst, Periventricular leukomalacia |
ORPHA:974 |
Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Micro... |
ORPHA:314679 |
Martsolf Syndrome 1 |
|
Cataract, Microcephaly, Developmental cataract, Periventricular white matter hyperintensities, Mi... |
OMIM:212720 |
Trisomy 8P |
|
Cryptorchidism, Annular pancreas, Nephrocalcinosis, Astigmatism, Aplasia/Hypoplasia of the gallbl... |
ORPHA:264450 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:156610 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Premature graying of hair, Hypogona... |
ORPHA:163746 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia, Microcephaly |
ORPHA:2505 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Aggressive behavior, Anisocoria, Enuresis, Abnormality of the adrenal glands, Dysphagia |
ORPHA:289483 |
Trisomy 18 |
|
Cataract, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Microcornea, Cogn... |
ORPHA:3380 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Microcephaly, Cerebral atrophy, Hypoplasia of the iris, Secondary microcephaly, Opacifi... |
OMIM:251300 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:35173 |
Linear Nevus Sebaceus Syndrome |
|
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Microphtha... |
ORPHA:2612 |
Hermansky-Pudlak Syndrome 7 |
|
Menorrhagia, Ocular albinism, Albinism |
OMIM:614076 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Corneal c... |
ORPHA:411629 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Microcephaly, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:601675 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed areas, Albinism, Ocular al... |
OMIM:203300 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Microcephaly |
OMIM:619981 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... |
ORPHA:2298 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Hyperpigmentation of the skin, Ataxia, Akinesia, Retinal degeneration, Urinary inc... |
OMIM:234200 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Polymicrogyria, Hypoplasia of the corpus callosum, Cerebral atrophy |
OMIM:618494 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Attention deficit hyperactivity disorder, Microcephaly |
ORPHA:1942 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Cortical dysplasia |
ORPHA:261272 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Anencephaly, Microphthalmia, Agenesis of corpus callosum, Microcephaly |
OMIM:619148 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Microcephaly, Developmental cataract, Attention deficit ... |
OMIM:620185 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Coloboma, Retinal coloboma, Hypoplasia of the corpus callos... |
ORPHA:508498 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Iris coloboma, Cognitive impairment, Microcephaly |
ORPHA:1236 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia |
ORPHA:85167 |
Papillorenal Syndrome |
|
Cataract, Lens luxation, Optic disc coloboma, Retinal coloboma, Microphthalmia |
OMIM:120330 |
Trichinellosis |
|
Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Irritability, Conjunctivitis, A... |
ORPHA:863 |
Joubert Syndrome 37 |
|
Microphthalmia, Hypoplasia of the corpus callosum |
OMIM:619185 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior |
ORPHA:309246 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Trichothiodystrophy |
|
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Bilateral microph... |
ORPHA:33364 |
Oculoectodermal Syndrome |
|
Hyperactivity, Supernumerary nipple, Hyperpigmented streaks, Chorioretinal atrophy, Pineal cyst, ... |
OMIM:600268 |
Holoprosencephaly 7 |
|
Microcephaly, Partial agenesis of the corpus callosum, Bilateral microphthalmos, Microphthalmia, ... |
OMIM:610828 |
Mowat-Wilson Syndrome |
|
Cataract, Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Mic... |
OMIM:235730 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Alagille Syndrome |
|
Keratoconus, Corneal dystrophy, Cryptorchidism, Abnormal pupil morphology, Abnormality of the ure... |
ORPHA:52 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Microcephaly, Chorioretinal coloboma, Microphthalmia, Cy... |
OMIM:157170 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... |
ORPHA:959 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, Coloboma, Hypopla... |
OMIM:253280 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacc... |
ORPHA:534 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism, Microcephaly |
ORPHA:1352 |
Cockayne Syndrome Type 3 |
|
Cerebral white matter atrophy, Cataract, Progressive neurologic deterioration, Basal ganglia calc... |
ORPHA:90324 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ocular anterior segment dysgenesis, Bilateral microphthalmos |
ORPHA:369891 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Seckel Syndrome 2 |
|
Microphthalmia, Microcephaly |
OMIM:606744 |
Aicardi Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Optic disc coloboma, Chorioretinal colobom... |
ORPHA:50 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokines... |
OMIM:610217 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Cataract |
ORPHA:2250 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Keratitis, Cognitive impairment, Attention deficit hyperactivity disor... |
ORPHA:464 |
Monosomy 13Q14 |
|
Cataract, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Iris coloboma |
ORPHA:1587 |
Proteus Syndrome |
|
Central heterochromia, Neoplasm of the thymus, Renal cyst, Abnormality of skin pigmentation, Chor... |
ORPHA:744 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Cognitive impair... |
ORPHA:2092 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Schizencephaly, Corneal opacity, Cortical dysplasia, Porencephalic cyst, Polycoria, Leukoencephal... |
OMIM:175780 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Cataract, Ataxia, Hypoglycemia, Optic atrophy, Abnormality iris morphology, M... |
ORPHA:2710 |
Cockayne Syndrome |
|
Urinary incontinence, Progressive gait ataxia, Lentiglobus, Retinal arteriolar constriction, Reti... |
ORPHA:191 |
Proboscis Lateralis |
|
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic disc coloboma, Microcornea... |
ORPHA:141099 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Hypothyroidism, Ocular albinism, Poly... |
ORPHA:1606 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Iris coloboma, Polymicrogyria, Unilateral microphthalmos, Microcephaly |
OMIM:618874 |
Joubert Syndrome 14 |
|
Microphthalmia, Hypoplasia of the corpus callosum, Coloboma |
OMIM:614424 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Microcornea, Retinal coloboma, Hydranencephaly, Iris coloboma |
ORPHA:2839 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:616920 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Cognitive impairment, Microcephaly |
ORPHA:1915 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Basal ganglia calcification, Developmental cataract |
OMIM:127000 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Microcephaly, Cortical dysplasia, Bilateral microphthalmos, Simplified gy... |
ORPHA:468631 |
Monosomy 18P |
|
Microphthalmia, Microcephaly |
ORPHA:1598 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Developmental cataract |
OMIM:606519 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Cerebral white matter atrophy, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Oculodentodigital Dysplasia |
|
Cataract, Microcephaly, Basal ganglia calcification, Microcornea, Abnormal cerebral white matter ... |
OMIM:164200 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Holoprosencephaly 1 |
|
Microphthalmia, Cyclopia, Agenesis of corpus callosum, Microcephaly |
OMIM:236100 |
Duane-Radial Ray Syndrome |
|
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:607323 |
Meckel Syndrome |
|
Anophthalmia, Cataract, Sclerocornea, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus... |
ORPHA:564 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Anencephaly, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:611134 |
Fanconi Anemia, Complementation Group D2 |
|
Microcephaly, Attention deficit hyperactivity disorder, Hypoplasia of the corpus callosum, Microp... |
OMIM:227646 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Cataract |
OMIM:302960 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi... |
OMIM:180500 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Corneal opacity, Absent septum pellucidum, Sclerocornea, Microcephaly, Microphthalm... |
ORPHA:2556 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
2Q31.1 Microdeletion Syndrome |
|
Microcephaly, Optic disc coloboma, Coloboma, Microphthalmia, Iris coloboma, Cerebral cortical atr... |
ORPHA:251014 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Microcephaly |
OMIM:617883 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Attention deficit hyperactivity disorder |
ORPHA:404440 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Hallermann-Streiff Syndrome |
|
Cataract, Microcephaly, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:234100 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Chorioretinal hypopigmentation, Pheochromocytoma, Carcino... |
ORPHA:805 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Microphthalmia |
OMIM:110100 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions |
OMIM:153400 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Microcephaly, Phthisis bulbi, Absent anterior chamber of the eye, Microph... |
OMIM:259770 |
Charcot-Marie-Tooth Disease Type 1E |
|
Inability to walk, Abnormal pupil morphology, Anisocoria, Steppage gait, Gait disturbance, Gait i... |
ORPHA:90658 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Cataract, Microcephaly, Keratitis, Microphthalmia |
OMIM:308300 |
Holoprosencephaly 9 |
|
Anophthalmia, Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Partial agenesis ... |
OMIM:610829 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microcephaly, Hypoplastic anterior commissure, Coloboma, Hypoplasia of the corpus callosum, Peter... |
OMIM:616975 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Attention deficit hyperactivity disorder, Microcephaly |
OMIM:620098 |
Dubowitz Syndrome |
|
Short attention span, Microcephaly, Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris co... |
OMIM:223370 |
Jacobsen Syndrome |
|
Microcephaly, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:147791 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microphthalmia, Agenesis of c... |
ORPHA:2538 |
Neu-Laxova Syndrome 1 |
|
Cataract, Lissencephaly, Primary microcephaly, Hydranencephaly, Microphthalmia, Pterygium, Agenes... |
OMIM:256520 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Ataxia, Optic atrophy, Anisocoria, Adrenocorticotropin rece... |
OMIM:231550 |
Monosomy 9Q22.3 |
|
Microphthalmia, Cataract, Calcification of falx cerebri |
ORPHA:77301 |
Hermansky-Pudlak Syndrome 10 |
|
Ocular albinism, Albinism |
OMIM:617050 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cataract, Iris coloboma, Calcification of falx cerebri |
OMIM:109400 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Ataxia, Urinary incontinence, Bradykinesia, Urinary urgency, Impotence |
OMIM:146500 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Corneal opacity, Microcephaly |
ORPHA:364577 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Anencephaly |
OMIM:611561 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Cataract, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced beh... |
ORPHA:353281 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Attention deficit hyperactivity disorder |
OMIM:619426 |
Cohen Syndrome |
|
Microphthalmia, Iris coloboma, Microcephaly |
ORPHA:193 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:241410 |
Mosaic Trisomy 9 |
|
Microphthalmia, Corneal opacity, Microcephaly |
ORPHA:99776 |
Holoprosencephaly |
|
Anophthalmia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Chorioretinal coloboma, Co... |
ORPHA:2162 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia |
ORPHA:1052 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Reticular hyperpigmentation |
OMIM:618165 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria, Dysphagia |
OMIM:300858 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:151050 |
Fryns Syndrome |
|
Microphthalmia, Agenesis of corpus callosum, Opacification of the corneal stroma |
OMIM:229850 |
Galloway-Mowat Syndrome 3 |
|
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Lissencephaly, Hypoplasia of the corpus... |
OMIM:617729 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy, Primary testicular failure |
OMIM:115250 |
Joubert Syndrome 2 |
|
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma, Abnormal corpus callosum morphology |
OMIM:608091 |
Down Syndrome |
|
Brushfield spots, Hypothyroidism |
OMIM:190685 |
Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
OMIM:184705 |
Witteveen-Kolk Syndrome |
|
Cataract, Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Anisocoria, Hypoplasia of... |
OMIM:613406 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea, Bilateral microphthalmos, Hypoplasia of the frontal lobes, Primary microc... |
ORPHA:3472 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair |
OMIM:608233 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Polymicrogyria, Bilateral microphthalmos, Simplified gyral pattern, Microcephaly |
OMIM:610758 |
Cockayne Syndrome B |
|
Microcephaly, Basal ganglia calcification, Cerebral atrophy, Developmental cataract, Hypoplasia o... |
OMIM:133540 |
Vacterl With Hydrocephalus |
|
Microcornea, Microphthalmia, Anophthalmia |
ORPHA:3412 |
Meckel Syndrome, Type 1 |
|
Microcephaly, Anencephaly, Microphthalmia, Agenesis of corpus callosum, Iris coloboma, Cerebral h... |
OMIM:249000 |
Mend Syndrome |
|
Microphthalmia, Cataract, Hypoplasia of the corpus callosum |
ORPHA:401973 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microcornea, Microphthalmia, Cataract, Zonular cataract |
OMIM:268400 |
Cousin Syndrome |
|
Microcornea, Microphthalmia, Hydranencephaly |
OMIM:260660 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia, Corneal opacity |
OMIM:601812 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Reticulated skin pigmentation, Testicular atrophy |
OMIM:613987 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Anencephaly |
OMIM:603194 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:619135 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Microcephaly, Simplified gyral pattern, Aplasia/Hypoplasia of the corpus callosum |
OMIM:251230 |
Cat Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:115470 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Cataract, Coloboma |
OMIM:603457 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Neurooculorenal Syndrome |
|
Iris atrophy, Ectopic posterior pituitary, Decreased circulating cortisol level, Unilateral renal... |
OMIM:620305 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Microcephaly |
OMIM:612530 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Ectopia lentis, Microcephaly, Chorioretinal coloboma, Aniridia, Microphthalmia, Age... |
OMIM:305600 |
Monosomy 9P |
|
Microphthalmia, Agenesis of corpus callosum, Microcephaly |
ORPHA:261112 |
Revesz Syndrome |
|
Ataxia, Fine, reticulate skin pigmentation, Leukocoria, Exudative retinopathy, Megalocornea |
OMIM:268130 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Microcephaly |
OMIM:617244 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Cyclopia, Iris coloboma, Microcephaly |
ORPHA:3186 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Inability to walk, Patchy hypo- and hyperpigmentatio... |
ORPHA:3063 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy |
OMIM:201180 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Microcephaly, Developmental cataract |
ORPHA:2108 |
Frontonasal Dysplasia 2 |
|
Microphthalmia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:613451 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Townes-Brocks Syndrome |
|
Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Agenesis of corpus callosum, Ir... |
ORPHA:857 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Zttk Syndrome |
|
Dysplastic corpus callosum, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Abno... |
OMIM:617140 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Microcephaly, Anophthalmia, Cataract |
ORPHA:2526 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Remnants of the hyaloid vascular system, Microcephaly, Phthisis bulbi, Developmenta... |
OMIM:300166 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Cataract, Microcephaly |
OMIM:620005 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Microcephaly |
ORPHA:2728 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Treacher-Collins Syndrome |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:861 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Basal ganglia calcification, Bilateral microphthalmos, Developmental cataract |
ORPHA:93325 |
Roberts Syndrome |
|
Microphthalmia, Cataract, Microcephaly |
ORPHA:3103 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microcornea, Microphthalmia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616734 |
Pallister-Hall Syndrome |
|
Microphthalmia, Hypothalamic hamartoma |
OMIM:146510 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce... |
OMIM:263650 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... |
OMIM:608328 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Renpenning Syndrome 1 |
|
Cataract, Microcephaly, Cerebral atrophy, Coloboma, Microphthalmia |
OMIM:309500 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Cataract, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Cataract, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal ... |
ORPHA:353277 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Microphthalmia, Agenesis of co... |
OMIM:236680 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Optic nerve hypoplasia, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral w... |
ORPHA:500150 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Microphthalmia, Cyclopia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:2166 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Dysplastic corpus callosum, Thick corpus callosum |
OMIM:300967 |
Tetraamelia Syndrome 1 |
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Microphthalmia, Cataract |
OMIM:273395 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia |
OMIM:123570 |
Neonatal Marfan Syndrome |
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Iridodonesis, Megalocornea, Decreased testicular size, Ectopia lentis |
ORPHA:284979 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Abnormal pupil morphology, Large basal ganglia, Microcornea, Agenesis of corpus callosum, Iris co... |
ORPHA:261552 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Sclerocornea, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Microcornea,... |
OMIM:607932 |
Lowe Oculocerebrorenal Syndrome |
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Periventricular cysts, Corneal scarring, Developmental cataract, Microphthalmia, Dense posterior ... |
OMIM:309000 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Cataract, Focal hypointensity of cerebral white matter on MRI, Cerebral white matter hypoplasia, ... |
ORPHA:261537 |
Myhre Syndrome |
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Microphthalmia, Cataract, Microcephaly |
OMIM:139210 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Microphthalmia, Corneal opacity, Microcephaly |
OMIM:608670 |
22Q11.2 Deletion Syndrome |
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Cataract, Microcephaly, Attention deficit hyperactivity disorder, Microphthalmia, Posterior embry... |
ORPHA:567 |
Fanconi Anemia |
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Cataract, Microcephaly, Aplasia/Hypoplasia of the iris, Astigmatism, Microphthalmia |
ORPHA:84 |
Momo Syndrome |
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Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
Fanconi Anemia, Complementation Group F |
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Microphthalmia, Microcephaly |
OMIM:603467 |
Charge Syndrome |
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Anophthalmia, Microcephaly, Chorioretinal coloboma, Attention deficit hyperactivity disorder, Mic... |
ORPHA:138 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:248450 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:466791 |
Fanconi Anemia, Complementation Group E |
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Microphthalmia, Microcephaly |
OMIM:600901 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Cataract, Sutural cataract, Microcephaly, Nuclear pulverulent cataract, Microphthalmia |
OMIM:612474 |
Retinoblastoma |
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Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Pinealoma |
OMIM:180200 |
Fanconi Anemia, Complementation Group A |
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Microphthalmia, Microcephaly |
OMIM:227650 |
Teebi-Shaltout Syndrome |
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Microphthalmia, Microcephaly |
OMIM:272950 |
Ohdo Syndrome, X-Linked |
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Microphthalmia |
OMIM:300895 |
Mowat-Wilson Syndrome |
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Focal cortical dysplasia, Cataract, Microcephaly, Large basal ganglia, Abnormal cerebral white ma... |
ORPHA:2152 |
Adams-Oliver Syndrome 1 |
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Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Microphthalmia, Pachygyria, ... |
OMIM:100300 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Popliteal pterygium, Microphthalmia, Antecubital pterygium, Microcephaly |
OMIM:609945 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Abnormality iris morphology |
ORPHA:91387 |
Degcags Syndrome |
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Microphthalmia, Agenesis of corpus callosum, Microcephaly |
OMIM:619488 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Microphthalmia, Optic disc coloboma, Iris coloboma |
OMIM:620186 |
Fanconi Anemia, Complementation Group C |
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Microphthalmia, Microcephaly |
OMIM:227645 |
Meckel Syndrome 14 |
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Microphthalmia |
OMIM:619879 |
Fanconi Anemia, Complementation Group L |
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Microphthalmia, Attention deficit hyperactivity disorder |
OMIM:614083 |
Charge Syndrome |
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Anophthalmia, Cataract, Microcephaly, Unilateral microphthalmos, Coloboma, Retinal coloboma, Micr... |
OMIM:214800 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Microphthalmia |
OMIM:616300 |
Branchiooculofacial Syndrome |
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Anophthalmia, Cataract, Microcephaly, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:113620 |
Fraser Syndrome 1 |
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Anophthalmia, Corneal opacity, Abnormal cortical gyration, Microcephaly, Bilateral microphthalmos |
OMIM:219000 |
Craniofacial Microsomia 1 |
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Limbal dermoid, Microphthalmia, Anophthalmia, Agenesis of corpus callosum |
OMIM:164210 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Roberts-Sc Phocomelia Syndrome |
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Cataract, Corneal opacity, Microcephaly, Coloboma, Opacification of the corneal stroma, Microphth... |
OMIM:268300 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Microphthalmia |
OMIM:617925 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, True anophthalmia |
ORPHA:1106 |
Fontaine Progeroid Syndrome |
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Microphthalmia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:612289 |
Pallister-Hall Syndrome |
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Abnormal basal ganglia MRI signal intensity, Microphthalmia, Hypothalamic hamartoma, Abnormal cor... |
ORPHA:672 |
Fraser Syndrome 2 |
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Microphthalmia |
OMIM:617666 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Microcephaly, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretina... |
OMIM:309800 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Hypospadias, Cryptorchidism, Abnormal pupil morphology, Cystocele, Renovascular hype... |
ORPHA:286 |
8Q24.3 Microdeletion Syndrome |
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Optic nerve hypoplasia, Bilateral microphthalmos, Secondary microcephaly, Retinal coloboma, Hypop... |
ORPHA:508488 |
Fraser Syndrome |
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Microphthalmia, Anophthalmia, Microcephaly |
ORPHA:2052 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos |
OMIM:154500 |