Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Microphthalmia, Isolated 1 |
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Microphthalmia, Anophthalmia |
OMIM:251600 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Microphthalmia, Isolated 8 |
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Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Microphthalmia, Isolated, With Coloboma 5 |
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Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma |
OMIM:611638 |
Microphthalmia, Syndromic 16 |
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Microphthalmia, Anophthalmia |
OMIM:611038 |
Microphthalmia, Isolated 7 |
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Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
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Microphthalmia |
OMIM:609549 |
Microphthalmia, Isolated, With Coloboma 6 |
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Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:600776 |
Microphthalmia, Syndromic 12 |
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Microphthalmia, Anophthalmia |
OMIM:615524 |
Anencephaly 2 |
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Anophthalmia |
OMIM:619452 |
Microphthalmia, Syndromic 3 |
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Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Aniridia-Intellectual Disability Syndrome |
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Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Retinal detachment, Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase ... |
OMIM:615181 |
Craniotelencephalic Dysplasia |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Bornholm Eye Disease |
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Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Oculocerebrocutaneous Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:164180 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Joubert Syndrome 40 |
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Optic nerve hypoplasia |
OMIM:619582 |
Microphthalmia, Syndromic 5 |
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Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
Meckel Syndrome, Type 8 |
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Microphthalmia, Anophthalmia |
OMIM:613885 |
Walker-Warburg Syndrome |
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Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abno... |
ORPHA:899 |
Craniotelencephalic Dysplasia |
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Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Septooptic Dysplasia |
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Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia |
ORPHA:411986 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Optic nerve hypoplasia |
ORPHA:250972 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
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Optic nerve hypoplasia |
ORPHA:65288 |
Trisomy 13 |
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Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia of the iris... |
ORPHA:3378 |
Microphthalmia With Brain And Digit Anomalies |
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Microphthalmia, Anophthalmia, Retinal dystrophy, Chorioretinal coloboma |
ORPHA:139471 |
Anophthalmia Plus Syndrome |
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Anophthalmia |
ORPHA:1104 |
Chromosome 19P13.13 Deletion Syndrome |
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Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
X-Linked Intellectual Disability, Najm Type |
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Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
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Optic nerve hypoplasia |
OMIM:614306 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
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Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia |
ORPHA:137634 |
Optic Atrophy 11 |
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Optic nerve hypoplasia, Optic atrophy, Facial diplegia, Cherry red spot of the macula, Decreased ... |
OMIM:617302 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, O... |
ORPHA:370959 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Solitary Median Maxillary Central Incisor |
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Microphthalmia, Anophthalmia |
OMIM:147250 |
5Q14.3 Microdeletion Syndrome |
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Optic nerve hypoplasia |
ORPHA:228384 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:77298 |
Bresek Syndrome |
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Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:85284 |
Squalene Synthase Deficiency |
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Optic nerve hypoplasia, Increased circulating farnesol concentration, Decreased LDL cholesterol c... |
OMIM:618156 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
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Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
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Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia |
ORPHA:496790 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Anophthalmia |
OMIM:206920 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Anophthalmia, Optic atrophy, Pigmentary retinopathy, Increas... |
ORPHA:90321 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Optic nerve hypoplasia |
OMIM:618736 |
Cockayne Syndrome Type 2 |
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Anophthalmia |
ORPHA:90322 |
Cerebral Visual Impairment |
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Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... |
ORPHA:447788 |
Trisomy 1Q |
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Anophthalmia |
ORPHA:261344 |
Lissencephaly Due To Tuba1A Mutation |
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Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:171680 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia |
OMIM:618828 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Optic nerve hypoplasia |
OMIM:618381 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... |
OMIM:606519 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Aniridia, Anophthalmia, Abnormal optic nerve morphology, Abnormal vitreous humor morphology |
ORPHA:1101 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Optic nerve hypoplasia |
ORPHA:572013 |
Trichothiodystrophy 5, Nonphotosensitive |
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Retinal dystrophy, Optic nerve hypoplasia |
OMIM:300953 |
Joubert Syndrome 21 |
|
Retinopathy, Anophthalmia, Optic atrophy, Megalopapilla |
OMIM:615636 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Optic nerve hypoplasia |
OMIM:222765 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Abnormal optic nerve morphology |
ORPHA:3412 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase... |
OMIM:236670 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration |
OMIM:301056 |
Cardiofaciocutaneous Syndrome 4 |
|
Optic nerve hypoplasia |
OMIM:615280 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:615033 |
Verheij Syndrome |
|
Optic nerve hypoplasia |
OMIM:615583 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia |
ORPHA:363686 |
Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia |
OMIM:615879 |
Aniridia 1 |
|
Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen... |
OMIM:106210 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Optic nerve hypoplasia |
OMIM:220120 |
Holoprosencephaly |
|
Hyponatremia, Anophthalmia, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Retinopathy |
ORPHA:2162 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia, Abnormally large globe |
OMIM:300749 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:3157 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Meckel Syndrome |
|
Anophthalmia, Abnormal chorioretinal morphology, Optic atrophy, Aplasia/Hypoplasia of the iris, M... |
ORPHA:564 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Decreased number of lar... |
ORPHA:101085 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia |
OMIM:612513 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia |
OMIM:617864 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:141099 |
19P13.13 Microdeletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
ORPHA:357001 |
2P15P16.1 Microdeletion Syndrome |
|
Facial palsy, Optic atrophy, Optic nerve hypoplasia |
ORPHA:261349 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Vi... |
ORPHA:2556 |
White-Sutton Syndrome |
|
Rod-cone dystrophy, Optic nerve hypoplasia |
OMIM:616364 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal autonomic nervous system physiology, Optic nerve hypoplasia |
ORPHA:300570 |
Stromme Syndrome |
|
Retinal vascular tortuosity, Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Fg Syndrome Type 1 |
|
Optic nerve hypoplasia |
ORPHA:93932 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Charge Syndrome |
|
Anophthalmia, Facial palsy, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Abnormal crani... |
ORPHA:138 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:261250 |
Asparagine Synthetase Deficiency |
|
Optic nerve hypoplasia, Hypoasparaginemia |
OMIM:615574 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia |
OMIM:620029 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:3301 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood... |
ORPHA:468631 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Facial palsy, Optic nerve hypoplasia, Abnormal optic disc morphology, Retinal coloboma, Microphth... |
ORPHA:508498 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Optic atrophy, Chorioretinal coloboma, Aniridia, Microphthalmia |
OMIM:305600 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Optic atrophy, True anophthalmia |
ORPHA:1106 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Microphthalmia, Anophthalmia, Remnants of the hyaloid vascular system |
OMIM:300166 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Optic nerve hypoplasia |
ORPHA:221139 |
Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Azotemia, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:619321 |
Phace Syndrome |
|
Microphthalmia, Retinal vascular malformation, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Optic nerve hypoplasia |
OMIM:617506 |
Congenital Fibrosis Of Extraocular Muscles |
|
Optic nerve hypoplasia |
ORPHA:45358 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Optic disc coloboma, Optic nerve hypoplasia |
ORPHA:536471 |
Charge Syndrome |
|
Anophthalmia, Facial palsy, Unilateral microphthalmos, Retinal coloboma, Hypocalcemia, Microphtha... |
OMIM:214800 |
Marshall-Smith Syndrome |
|
Optic nerve hypoplasia |
OMIM:602535 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Hydranencephaly |
|
Chorioretinal atrophy, Optic nerve hypoplasia |
ORPHA:2177 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Abnormal circulating thyroglobulin level, Optic nerve hypoplasia |
ORPHA:226307 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
OMIM:301043 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal optic nerve morphology, Optic nerve hypoplasia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal optic nerve morphology, Optic nerve hypoplasia |
ORPHA:352665 |
Pancreatic And Cerebellar Agenesis |
|
Optic nerve hypoplasia |
OMIM:609069 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon |
ORPHA:59315 |
Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia |
ORPHA:95496 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia, Retinal dystrophy |
OMIM:607932 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia, Retinal coloboma, Facial palsy |
OMIM:113620 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:457284 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Buphthalmos, Optic nerve hypoplasia |
ORPHA:495875 |
8Q24.3 Microdeletion Syndrome |
|
Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia |
ORPHA:508488 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Optic nerve hypoplasia |
OMIM:620025 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Aganglionic megacolon, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:309800 |
Baller-Gerold Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:218600 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hypocalcemia, Optic nerve hypoplasia |
OMIM:620330 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
ORPHA:500150 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:95494 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia |
OMIM:619841 |