Retinal Dysplasia, Primary |
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Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Stargardt Disease 1 |
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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
Macular Degeneration, Age-Related, 13 |
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Macular degeneration, Choroidal neovascularization, Drusen, Macular scar |
OMIM:615439 |
Retinitis Pigmentosa 36 |
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Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Macular Degeneration, Age-Related, 6 |
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Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
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Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 4 |
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Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
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Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
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Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 11 |
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Macular degeneration |
OMIM:611953 |
Exudative Vitreoretinopathy 3 |
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Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Retinoschisis 1, X-Linked, Juvenile |
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Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
Retinal Degeneration And Epilepsy |
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Retinal degeneration |
OMIM:267740 |
Late-Onset Retinal Degeneration |
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Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
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Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
Familial Drusen |
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Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
Macular Degeneration, Age-Related, 1 |
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Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... |
OMIM:603075 |
Birdshot Chorioretinopathy |
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Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... |
ORPHA:179 |
Spina Bifida-Hypospadias Syndrome |
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Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinitis Pigmentosa 70 |
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Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
Retinitis Pigmentosa 50 |
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Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... |
OMIM:613194 |
Retinitis Pigmentosa 32 |
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Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Hypoplastic left heart, Spina bifida, Ventricular septal defect, Cleft palate, Anencephaly, Ectop... |
ORPHA:2476 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Retinitis Pigmentosa 13 |
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Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
Frontal Encephalocele |
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Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Acalvaria |
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Cleft palate, Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
Senior-Loken Syndrome 7 |
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Retinal degeneration |
OMIM:613615 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Mitral valve prolapse, Spina bifida |
OMIM:211960 |
Thoraco-Abdominal Enteric Duplication |
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Intestinal malrotation, Dextrocardia, Meningocele, Abnormal tricuspid valve morphology, Duodenal ... |
ORPHA:1759 |
Coloboma Of Optic Nerve |
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Optic disc coloboma, Retinal detachment |
OMIM:120430 |
Vitreoretinal Degeneration, Snowflake Type |
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Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Exudative Vitreoretinopathy 2, X-Linked |
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Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Fryns Microphthalmia Syndrome |
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Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Hemihyperplasia, Isolated |
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Myelomeningocele |
OMIM:235000 |
Exudative Vitreoretinopathy 1 |
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Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... |
OMIM:133780 |
Schisis Association |
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Encephalocele, Anal atresia, Spina bifida, Anencephaly, Cleft palate, Tracheoesophageal fistula |
ORPHA:63862 |
Isolated Hemihyperplasia |
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Myelomeningocele |
ORPHA:2128 |
Isolated Klippel-Feil Syndrome |
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Anal atresia, Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus |
ORPHA:2345 |
Myopia 2, Autosomal Dominant |
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Retinal detachment |
OMIM:160700 |
Myopia 3, Autosomal Dominant |
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Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
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Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
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Retinal detachment |
OMIM:617238 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Situs inversus totalis, Spinal dysraphism, Hydrocephalus, Meningocele, Ventricular... |
ORPHA:1908 |
Neural Tube Defects, Susceptibility To |
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Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Nevus Comedonicus Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Subependymal Nodular Heterotopia |
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Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele |
ORPHA:101030 |
Congenital Vertical Talus |
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Myelomeningocele |
ORPHA:178382 |
Meckel Syndrome, Type 4 |
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Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect, Atrial septal defect, Intra... |
OMIM:611134 |
Caudal Duplication |
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Intestinal duplication, Myelomeningocele, Spina bifida |
ORPHA:1756 |
Vitreoretinopathy, Neovascular Inflammatory |
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Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... |
OMIM:193235 |
Acropectorovertebral Dysplasia |
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Cleft palate, High, narrow palate, Spina bifida |
ORPHA:957 |
Wildervanck Syndrome |
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Meningocele |
ORPHA:3456 |
Diaphanospondylodysostosis |
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Cleft palate, Myelomeningocele |
ORPHA:66637 |
Meckel Syndrome, Type 2 |
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Encephalocele, Meningocele, Intrauterine growth retardation, Cleft palate, Anencephaly, Intestina... |
OMIM:603194 |
Humero-Radial Synostosis |
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Meningocele |
ORPHA:3265 |
Muscle-Eye-Brain Disease |
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Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect, Anal atresia |
OMIM:119580 |
Chiari Malformation Type Ii |
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Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Sirenomelia |
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Tracheoesophageal fistula, Sirenomelia, Anal atresia, Spina bifida |
ORPHA:3169 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Atrial septal defect, Spina bifida, Atrioventricular canal defect, Bicuspid aortic valve, Patent ... |
ORPHA:1120 |
Anophthalmia Plus Syndrome |
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Cleft palate, Bilateral cleft lip and palate, Spina bifida |
ORPHA:1104 |
Triploidy |
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Macroglossia, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, ... |
ORPHA:3376 |
Craniorachischisis |
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Sirenomelia, Spinal dysraphism, Cervical spina bifida, Anal atresia, Myelomeningocele, Anencephaly |
ORPHA:63260 |
Alg3-Cdg |
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Macroglossia, High palate, Cardiomyopathy, Abnormal uvula morphology, Neural tube defect |
ORPHA:79321 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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High palate, Intrauterine growth retardation, Spina bifida |
ORPHA:1327 |
Czeizel-Losonci Syndrome |
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High palate, Dextrocardia, Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta, T... |
ORPHA:2437 |
Autosomal Recessive Spondylocostal Dysostosis |
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Meningocele, Umbilical hernia, Intrauterine growth retardation, Cleft palate, Spina bifida occult... |
ORPHA:2311 |
Enlarged Parietal Foramina |
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Cleft palate, Occipital encephalocele, Myelomeningocele |
ORPHA:60015 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
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Meningocele, Bilateral cleft lip and palate |
ORPHA:2003 |
Waardenburg Syndrome Type 1 |
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Meningocele, Cleft palate, Aganglionic megacolon, Spina bifida |
ORPHA:894 |
Joubert Syndrome 14 |
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Encephalocele, Ventricular septal defect, Meningocele, Hydrocephalus, Cleft palate |
OMIM:614424 |
Cerebrocostomandibular Syndrome |
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Myelomeningocele, Meningocele, Hydranencephaly, Spina bifida, Short hard palate, Intrauterine gro... |
ORPHA:1393 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Meningocele, Glossoptosis |
ORPHA:2031 |
Neurocutaneous Melanocytosis |
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Meningocele |
ORPHA:2481 |
Amish Lethal Microcephaly |
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Cleft soft palate, Spina bifida |
ORPHA:99742 |
Isolated Posterior Meningocele |
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Hydrocephalus, Meningocele, Lipomyelomeningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
Lateral Meningocele Syndrome |
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High palate, Ventricular septal defect, Meningocele, Umbilical hernia, High, narrow palate |
ORPHA:2789 |
Lateral Meningocele Syndrome |
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High palate, Hydrocephalus, Meningocele, Umbilical hernia, Ventricular septal defect, Cleft palat... |
OMIM:130720 |
Fountain Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Neu-Laxova Syndrome 2 |
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Cleft palate, High palate, Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
Mosaic Trisomy 9 |
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High palate, Dextrocardia, Spina bifida, Ventricular septal defect, Atrial septal defect, Intraut... |
ORPHA:99776 |
Pelvis-Shoulder Dysplasia |
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Hydranencephaly, Hydrocephalus, Spina bifida, Cleft palate, Microglossia |
ORPHA:2839 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Situs inversus totalis, Dextrocardia, Hydrocephalus, Myelomeningocele, Ectopic anus, Spina bifida... |
OMIM:613686 |
Acromelic Frontonasal Dysplasia |
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Encephalocele, Meningocele, Median cleft palate |
ORPHA:1827 |
Limb Body Wall Complex |
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Encephalocele, Short umbilical cord, Abnormal intestine morphology, Myelomeningocele, Spina bifid... |
ORPHA:2369 |
Sacral Defect With Anterior Meningocele |
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Hydrocephalus, Meningocele, Myelomeningocele, Myeloschisis, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
Iniencephaly |
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Encephalocele, Spinal dysraphism, Anal atresia, Duodenal atresia, Myelomeningocele, Spina bifida,... |
ORPHA:63259 |
Obsolete: Arnold-Chiari Malformation Type Ii |
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Meningocele, Aqueductal stenosis, Hydrocephalus, Myelomeningocele |
ORPHA:1136 |
Vacterl With Hydrocephalus |
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Esophageal atresia, Anal atresia, Hydrocephalus, Spina bifida, Tracheoesophageal fistula, Aqueduc... |
ORPHA:3412 |
Lumbar Syndrome |
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Myelomeningocele, Ectopic anus, Anal atresia, Spina bifida |
ORPHA:83628 |
Chromosome 17P13.1 Deletion Syndrome |
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High palate, Hydrocephalus, Spina bifida, Umbilical hernia, High, narrow palate |
OMIM:613776 |
Trisomy 18 |
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Esophageal atresia, Anal atresia, Spina bifida, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:3380 |
Curry-Jones Syndrome |
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Lipomyelomeningocele, Occipital meningocele, Intestinal malrotation, Intestinal pseudo-obstructio... |
OMIM:601707 |
Heterotaxy, Visceral, 1, X-Linked |
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Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Atrioventricular canal d... |
OMIM:306955 |
Cloacal Exstrophy |
|
Anal atresia, Myelomeningocele, Spina bifida, Intestinal duplication, Intestinal malrotation |
ORPHA:93929 |
Trisomy 20P |
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Umbilical hernia, Ectopic anus, Spina bifida |
ORPHA:261318 |
Focal Dermal Hypoplasia |
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Duodenal atresia, Ventricular septal defect, Spina bifida, Umbilical hernia, Patent ductus arteri... |
ORPHA:2092 |
Lathosterolosis |
|
Meningocele, High palate, Intrauterine growth retardation |
ORPHA:46059 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Hydrocephalus, Atrial septal defect, Cleft palate, Occipital meningocele, Hamartoma of tongue, An... |
OMIM:616546 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Orofaciodigital Syndrome Vi |
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High palate, Hypoplastic left heart, Tongue nodules, Cleft palate, Occipital meningocele, Hamarto... |
OMIM:277170 |
Pagod Syndrome |
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Encephalocele, Situs inversus totalis, Hypoplastic left heart, Spina bifida, Meningocele |
ORPHA:991 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac fibroma, Hydrocephalus, Spina bifida, Cardiac rhabdomyoma, Hamartomatous stomach polyps, ... |
OMIM:109400 |
Phocomelia, Schinzel Type |
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Anal atresia, Meningocele, Intrauterine growth retardation, High, narrow palate, Cleft palate, Tr... |
ORPHA:2879 |
Nail-Patella Syndrome |
|
Cleft palate, Spina bifida |
OMIM:161200 |
Fibular Hemimelia |
|
Abnormal heart morphology, Spina bifida |
ORPHA:93323 |
Non-Syndromic Anorectal Malformation |
|
Rectal fistula, Anal atresia, Persistent cloaca, Rectourethral fistula, Myelomeningocele, Ectopic... |
ORPHA:557 |
Neu-Laxova Syndrome |
|
Bifid uvula, Spina bifida, Submucous cleft hard palate, Intrauterine growth retardation, Cleft pa... |
ORPHA:2671 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Hydranencephaly, Spina bifida, Ventricular septal defect, Intrauterine grow... |
OMIM:256520 |
Vater/Vacterl Association |
|
Esophageal atresia, Anal atresia, Spina bifida, Ventricular septal defect, Tetralogy of Fallot, P... |
OMIM:192350 |
Fanconi Anemia |
|
Anal atresia, Aplasia/Hypoplasia of the uvula, High palate, Hydrocephalus, Spina bifida, Umbilica... |
ORPHA:84 |
Jacobsen Syndrome |
|
Hypoplastic left heart, Duodenal atresia, Pyloric stenosis, Spina bifida, Abnormality of the anus... |
ORPHA:2308 |
22Q11.2 Deletion Syndrome |
|
Anal atresia, Occipital myelomeningocele, Abnormal pulmonary valve morphology, Spina bifida, Meni... |
ORPHA:567 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Occipital encephalocele |
ORPHA:397715 |
Hallermann-Streiff Syndrome |
|
Narrow palate, High, narrow palate, High palate, Spina bifida |
OMIM:234100 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Atrioventricular canal defect, Bifid uvula, Spina bifida |
OMIM:619480 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Spina bifida, Peri... |
ORPHA:508498 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Atrial septal defect, Spina bifida, Tetralogy of Fallot, Atrioventricu... |
OMIM:274000 |
Holoprosencephaly 7 |
|
Median cleft palate, Hydrocephalus, Median cleft lip and palate, Unilateral cleft palate, Lobar h... |
OMIM:610828 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Knobloch Syndrome 1 |
|
Pyloric stenosis, Occipital encephalocele, Occipital meningocele, Spina bifida occulta, Patent du... |
OMIM:267750 |
Aicardi Syndrome |
|
Cleft palate, Hiatus hernia, Spina bifida |
OMIM:304050 |
Campomelic Dysplasia |
|
Spinal dysraphism, High palate, Hydrocephalus, Spina bifida, Submucous cleft hard palate, Abnorma... |
OMIM:114290 |
Marfan Syndrome |
|
Meningocele, Mitral valve calcification, High, narrow palate, Cleft palate, Mitral valve prolapse |
ORPHA:558 |
Arima Syndrome |
|
Occipital meningocele, Esophageal varix |
OMIM:243910 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Pulmonic stenosis, Hydrocephalus, Spina bifida, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Pulmonic stenosis, Hydrocephalus, Spina bifida, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:363958 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Hypoplastic left heart, Spina bifida, Ventricular septal defect, Atrial septal defec... |
OMIM:180849 |
Split Cord Malformation |
|
Cervical spina bifida, Hydrocephalus, Meningocele, Myelomeningocele, Lipomyelomeningocele |
ORPHA:573278 |
Exstrophy-Epispadias Complex |
|
Anal atresia, Hydrocephalus, Spina bifida, Abnormal heart morphology, Anal stenosis |
ORPHA:322 |
Otopalatodigital Syndrome, Type Ii |
|
Atrial septal defect, Hydrocephalus, Umbilical hernia, Spina bifida, Cleft palate, Stillbirth |
OMIM:304120 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Narrow palate, High palate |
OMIM:276820 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Hydrocephalus |
OMIM:219730 |
Focal Segmental Glomerulosclerosis 9 |
|
|
OMIM:616220 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
|
ORPHA:656 |