Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Edema, Intrauterine growth retardation |
OMIM:616570 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Coloboma, Int... |
OMIM:615583 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Short stature, Delayed puberty |
ORPHA:141333 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology |
ORPHA:1131 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Microphthalmia, Short stature |
ORPHA:2528 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Lobar holoprosencephaly |
ORPHA:2117 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia |
OMIM:613885 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus, Ascites, Intrauterine growth retardation |
ORPHA:858 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:603194 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616171 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... |
ORPHA:2162 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retar... |
OMIM:611134 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
Cofs Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1466 |
Cat-Eye Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
Joubert Syndrome 15 |
|
Coloboma, Exencephaly |
OMIM:614464 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... |
ORPHA:1908 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:3469 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature |
OMIM:300915 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Short stature |
OMIM:610023 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:614082 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:1617 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:48431 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Hydrocephalus, Optic disc ... |
ORPHA:261337 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth retardation |
OMIM:300863 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:228390 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Hydrolethalus |
|
Anophthalmia, Polyhydramnios, Hydrocephalus, Anencephaly, Microphthalmia |
ORPHA:2189 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hypertension |
ORPHA:2260 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Short stature, Growth delay, ... |
ORPHA:261330 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Growth delay, Microphthalmia, Intrauterine growth retardation |
ORPHA:85284 |
Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy |
ORPHA:79321 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Short stature |
OMIM:251270 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:352665 |
Isolated Posterior Meningocele |
|
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2547 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth retardation |
ORPHA:163966 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Gracile Bone Dysplasia |
|
Short stature, Hydrocephalus, Aniridia, Microphthalmia, Ascites |
OMIM:602361 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Hydrocephalus |
OMIM:613155 |
Pierpont Syndrome |
|
Microphthalmia, Short stature |
OMIM:602342 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:600118 |
Monosomy 18P |
|
Microphthalmia, Short stature, Holoprosencephaly, Lymphedema |
ORPHA:1598 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta, Short stature |
OMIM:169550 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Short stature, Edema |
ORPHA:2505 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:602501 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:290 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:261272 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular... |
ORPHA:508488 |
Seckel Syndrome 2 |
|
Growth delay, Microphthalmia, Short stature |
OMIM:606744 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia |
OMIM:308350 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal de... |
OMIM:617660 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Short stature |
OMIM:300887 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Short stature, Unilateral microphthalmos |
OMIM:619318 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia |
OMIM:614833 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Hydrocephalus, Oligohydramnios |
OMIM:614219 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Growth delay, Holoprosencephaly, Microphthalmia |
ORPHA:77298 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microphthalmia, I... |
ORPHA:3412 |
Trisomy 13 |
|
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... |
ORPHA:3378 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus, Iris coloboma |
ORPHA:861 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Rhizomelia |
ORPHA:93267 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Short stature, Optic disc coloboma, Atrial septal defect, Pulmonary ... |
OMIM:620186 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Short stature |
OMIM:614583 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Short stature, Holoprosencephaly |
OMIM:147250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Hydrocephalus |
OMIM:613153 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... |
ORPHA:85194 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Growth delay, Microphthalmia |
OMIM:614424 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Short stature |
ORPHA:2788 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Dehydration |
OMIM:214150 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia |
ORPHA:370959 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Oligohydramnios |
OMIM:619053 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Short stature |
ORPHA:1791 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Microphthalmia, Hydrocephalus |
OMIM:617244 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Short stature |
ORPHA:3191 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Increased nuchal translucency, Oligohydramnios |
OMIM:618494 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Hydrocephalus, Abnormally large globe |
OMIM:615249 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:618804 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:251230 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
Rere-Related Neurodevelopmental Syndrome |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
ORPHA:494344 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Increased nuchal translucency, Holoprosencephaly, Microphthalmia, Oligoh... |
OMIM:619879 |
Mosaic Trisomy 9 |
|
Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Intrauterine growth retardation, O... |
ORPHA:99776 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:613451 |
Heart And Brain Malformation Syndrome |
|
Growth delay, Microphthalmia, Polyhydramnios |
OMIM:616920 |
Joubert Syndrome 37 |
|
Microphthalmia, Short stature |
OMIM:619185 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616395 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature |
OMIM:257910 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia, Hydrocephalus, Ascites |
ORPHA:974 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1915 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:609053 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Baraitser-Winter Syndrome 1 |
|
Postnatal growth retardation, Microphthalmia, Short stature |
OMIM:243310 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Bilateral micro... |
ORPHA:2839 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Polyhydramnios |
ORPHA:3301 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos, Short stature |
ORPHA:369891 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... |
OMIM:153400 |
Trisomy 18 |
|
Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Microphthalmia, Intrau... |
ORPHA:3380 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Short stature |
OMIM:617883 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Polyhydramnios, Hydrocephalus, Umbilical hernia, Holoprosencephaly, Microphthalmia |
ORPHA:2166 |
Galloway-Mowat Syndrome 3 |
|
Short stature, Edema, Oligohydramnios, Microphthalmia, Intrauterine growth retardation |
OMIM:617729 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
ORPHA:2728 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia |
OMIM:302960 |
Warburg Micro Syndrome 4 |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
OMIM:615663 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Growth delay |
OMIM:120200 |
Microphthalmia With Limb Anomalies |
|
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation |
OMIM:206920 |
Marden-Walker Syndrome |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:248700 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation |
OMIM:241410 |
Branchiooculofacial Syndrome |
|
Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Retinal colo... |
OMIM:113620 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty |
ORPHA:2510 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele, Hydrocephalus |
OMIM:613150 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Short stature, Holoprosencephaly |
OMIM:612530 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Short stature, Polyhydramnios, Intrauterine growth retardation |
OMIM:603467 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microphthalmia, Anencephaly, Short stature |
OMIM:619148 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus |
OMIM:616538 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos, Short stature |
OMIM:610758 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation |
ORPHA:2399 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Short stature |
OMIM:617306 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Bran... |
OMIM:164210 |
Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Polyhydramnios, Increased nuchal translucency, Growth delay, Holoprosencephaly, Mi... |
ORPHA:1052 |
Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614222 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Aplasia/Hypopla... |
ORPHA:564 |
Walker-Warburg Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia |
ORPHA:899 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:614643 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Semilobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... |
ORPHA:93924 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Short stature, Intracranial hemorrhage, Growth delay, Intrauterine growth reta... |
OMIM:613406 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Short stature |
ORPHA:1806 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia |
OMIM:234050 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Cousin Syndrome |
|
Rhizomelia, Hydrocephalus, Disproportionate short stature, Hydranencephaly, Microphthalmia |
OMIM:260660 |
Galloway-Mowat Syndrome 1 |
|
Short stature, Oligohydramnios, Hypoplasia of the iris, Microphthalmia, Intrauterine growth retar... |
OMIM:251300 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia, Hydrocephalus |
OMIM:608091 |
Ritscher-Schinzel Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:619135 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:244300 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
ORPHA:35173 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Hydrocephalus, Short stature, Intrauterine growth retardation |
ORPHA:250989 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Buphthalmos... |
OMIM:236670 |
Papillorenal Syndrome |
|
Microphthalmia, Short stature, Edema |
OMIM:120330 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:613001 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Short stature |
OMIM:618571 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:364577 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrocephalus, Hydrops fetalis |
ORPHA:268249 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar holoprosencephaly, Holop... |
OMIM:610828 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm... |
OMIM:256520 |
Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614225 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Cohen Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty |
ORPHA:193 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:2714 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida |
ORPHA:2092 |
Jacobsen Syndrome |
|
Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Microphthalmia, Intrauterine growth retarda... |
OMIM:147791 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion |
ORPHA:2526 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia, Short stature |
OMIM:115470 |
Mosaic Trisomy 1 |
|
Microphthalmia, Increased nuchal translucency, Polyhydramnios |
ORPHA:1692 |
Martsolf Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:212720 |
Monosomy 9Q22.3 |
|
Microphthalmia, Hydrocephalus, Umbilical hernia |
ORPHA:77301 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia |
OMIM:607323 |
Fanconi Anemia, Complementation Group L |
|
Growth delay, Microphthalmia, Hydrocephalus, Intrauterine growth retardation |
OMIM:614083 |
Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Umbilical hernia, Short stature |
ORPHA:464 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Microphthalmia, Intrauterine... |
OMIM:249000 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Short stature |
OMIM:257850 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Monosomy 13Q14 |
|
Microphthalmia, Short stature, Holoprosencephaly, Intrauterine growth retardation |
ORPHA:1587 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Short stature |
OMIM:610651 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Proportionate short stature, Spina bifida |
OMIM:234100 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... |
OMIM:206900 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Hydrocephalus, Spina bifida |
OMIM:109400 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Short stature |
OMIM:601675 |
Fanconi Anemia |
|
Short stature, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the iris, Growth delay, Umbilic... |
ORPHA:84 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microphthalmia, Rhizomelia |
OMIM:616300 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Short stature |
ORPHA:568 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia |
OMIM:615877 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Pallister-Hall Syndrome |
|
Microphthalmia, Short stature, Holoprosencephaly, Intrauterine growth retardation |
OMIM:146510 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Microphthalmia |
OMIM:614230 |
Stromme Syndrome |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:243605 |
Fryns Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2059 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:227645 |
Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphtha... |
OMIM:610829 |
Dubowitz Syndrome |
|
Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine... |
OMIM:223370 |
22Q11.2 Deletion Syndrome |
|
Short stature, Spina bifida, Polyhydramnios, Hydrocephalus, Meningocele, Occipital myelomeningoce... |
ORPHA:567 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Hydrocephalus, Congenital aphakia, Pulmonary edema |
ORPHA:137675 |
Chromosome 13Q14 Deletion Syndrome |
|
Growth delay, Microphthalmia, Umbilical hernia, Holoprosencephaly |
OMIM:613884 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia |
OMIM:601812 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ... |
OMIM:601186 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Severe short stature, Rhizomelia |
ORPHA:85167 |
Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Anencephaly, Severe hydrocephalus, Microphthalmia, Intrauterine growth retardation |
OMIM:236680 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida |
ORPHA:508498 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Unilateral microphthalmos |
OMIM:618874 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Short stature |
OMIM:600901 |
Aicardi Syndrome |
|
Postnatal growth retardation, Microphthalmia, Spina bifida |
OMIM:304050 |
Momo Syndrome |
|
Bilateral microphthalmos, Short stature |
ORPHA:2563 |
Cockayne Syndrome B |
|
Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Normal pressure hydro... |
OMIM:133540 |
Charge Syndrome |
|
Anophthalmia, Short stature, Polyhydramnios, Aqueductal stenosis, Postnatal growth retardation, H... |
ORPHA:138 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Short stature |
ORPHA:251014 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Short stature |
OMIM:227650 |
Roberts Syndrome |
|
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios |
ORPHA:3103 |
Steinfeld Syndrome |
|
Microphthalmia, Holoprosencephaly |
OMIM:184705 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Dehydration, Buphthalmos, Joint swelling, Umbilical hernia, Delayed puberty, Micro... |
ORPHA:534 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Severe short stature, Short stature |
OMIM:127000 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Short stature |
OMIM:272950 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Hydrocephalus, Short stature |
OMIM:309801 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Short neck, Abnormal heart morphology, Neural tube defect, Umbilical h... |
ORPHA:798 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Hydrocephalus, Short stature |
OMIM:227646 |
Linear Nevus Sebaceus Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:2612 |
Fraser Syndrome 2 |
|
Microphthalmia, Oligohydramnios |
OMIM:617666 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Trichothiodystrophy |
|
Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation |
ORPHA:33364 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Short stature |
OMIM:308300 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Fontaine Progeroid Syndrome |
|
Short stature, Hydrocephalus, Umbilical hernia, Microphthalmia, Intrauterine growth retardation, ... |
OMIM:612289 |
Myhre Syndrome |
|
Short stature, Pericardial effusion, Birth length less than 3rd percentile, Microphthalmia, Intra... |
OMIM:139210 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:608670 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Short stature |
OMIM:201180 |
Yunis-Varon Syndrome |
|
Short stature, Polyhydramnios, Postnatal growth retardation, Increased nuchal translucency, Bilat... |
ORPHA:3472 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... |
ORPHA:93325 |
Mend Syndrome |
|
Microphthalmia, Hydrocephalus, Short stature |
ORPHA:401973 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Hydrocephalus, Short stature, True anophthalmia |
ORPHA:1106 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Acro-Renal-Ocular Syndrome |
|
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation |
OMIM:620005 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616975 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Optic nerve hypoplasia, Bilateral microphthalmos, Lobar holoprosencephaly, ... |
ORPHA:468631 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
Holoprosencephaly 1 |
|
Microphthalmia, Ethmocephaly, Short stature, Alobar holoprosencephaly |
OMIM:236100 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Short stature, Myelomeningocele, Hydrocephalus, Umbilical hernia, Aniridia, Microph... |
OMIM:305600 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:263650 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Short stature |
OMIM:268400 |
Microgastria-Limb Reduction Defect Syndrome |
|
Growth delay, Microphthalmia, Anophthalmia |
ORPHA:2538 |
Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Proportionate short stature |
ORPHA:2108 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Severe short stature, Hydrocephalus, Growth delay, Microphthalmia |
ORPHA:2556 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Short stature, Phthisis bulbi, Umbilical hernia, Microphthalmia |
OMIM:300166 |
Fryns Syndrome |
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Microphthalmia, Chylothorax, Polyhydramnios |
OMIM:229850 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Microphthalmia, Holoprosencephaly |
ORPHA:3186 |
Aicardi Syndrome |
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Microphthalmia, Delayed puberty |
ORPHA:50 |
Adams-Oliver Syndrome 1 |
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Encephalocele, Microphthalmia |
OMIM:100300 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia, Phthisis bulbi, Short stature |
OMIM:259770 |
Cockayne Syndrome Type 3 |
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Microphthalmia, Mild postnatal growth retardation |
ORPHA:90324 |
Oculodentodigital Dysplasia |
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Microphthalmia |
OMIM:164200 |
Cockayne Syndrome |
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Severe short stature, Postnatal growth retardation, Growth delay, Delayed puberty, Microphthalmia |
ORPHA:191 |
Charge Syndrome |
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Anophthalmia, Polyhydramnios, Postnatal growth retardation, Unilateral microphthalmos, Umbilical ... |
OMIM:214800 |
Degcags Syndrome |
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Microphthalmia, Polyhydramnios, Intrauterine growth retardation |
OMIM:619488 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Microphthalmia, Hypoplasia of the retina, Hydrocephalus |
OMIM:253280 |
Proboscis Lateralis |
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Microphthalmia, Holoprosencephaly, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia |
OMIM:619539 |
Pallister-Hall Syndrome |
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Short stature, Umbilical hernia, Holoprosencephaly, Microphthalmia, Intrauterine growth retardati... |
ORPHA:672 |
Fraser Syndrome 1 |
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Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele, Bilateral microphthalmos |
OMIM:219000 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Microphthalmia |
OMIM:617925 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Microphthalmia, Short stature |
OMIM:616734 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Microphthalmia |
OMIM:609945 |
Tetraamelia Syndrome 1 |
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Microphthalmia, Hydrocephalus |
OMIM:273395 |
Phace Syndrome |
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Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Microphthalmia |
OMIM:601552 |
Monosomy 9P |
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Microphthalmia |
ORPHA:261112 |
Roberts-Sc Phocomelia Syndrome |
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Polyhydramnios, Postnatal growth retardation, Hydrocephalus, Frontal encephalocele, Severe intrau... |
OMIM:268300 |
Holoprosencephaly 2 |
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Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
Renpenning Syndrome 1 |
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Microphthalmia, Short stature |
OMIM:309500 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia |
OMIM:603457 |
Lowe Oculocerebrorenal Syndrome |
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Postnatal growth retardation, Microphthalmia, Short stature |
OMIM:309000 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Microphthalmia |
OMIM:612474 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:175780 |
Mowat-Wilson Syndrome |
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Microphthalmia, Short stature |
OMIM:235730 |
Townes-Brocks Syndrome |
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Microphthalmia, Short stature, Delayed puberty |
ORPHA:857 |
Microphthalmia, Syndromic 6 |
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Microphthalmia, Anophthalmia |
OMIM:607932 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos |
OMIM:154500 |
Mowat-Wilson Syndrome |
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Growth delay, Microphthalmia, Short stature |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Microphthalmia, Short stature |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Microphthalmia, Short stature |
ORPHA:261552 |
Microphthalmia, Syndromic 1 |
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Growth delay, Microphthalmia, Anophthalmia |
OMIM:309800 |