Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... |
ORPHA:2476 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Acalvaria |
|
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Intestinal malrotation, Meningocele, Duodenal stenosis, Abnormal tricuspid valve mo... |
ORPHA:1759 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia |
ORPHA:2345 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:63862 |
Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... |
OMIM:611134 |
Caudal Duplication |
|
Myelomeningocele, Intestinal duplication, Spina bifida |
ORPHA:1756 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Cleft palate, Spina bifida |
ORPHA:957 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Cleft palate |
ORPHA:66637 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Intrauterine growt... |
OMIM:603194 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Anal atresia |
OMIM:119580 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Sirenomelia |
|
Anal atresia, Tracheoesophageal fistula, Spina bifida, Sirenomelia |
ORPHA:3169 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia |
ORPHA:63260 |
Anophthalmia Plus Syndrome |
|
Cleft palate, Spina bifida, Bilateral cleft lip and palate |
ORPHA:1104 |
Triploidy |
|
Intestinal malrotation, Hydrocephalus, Meningocele, Cleft palate, Macroglossia, Abnormal cardiac ... |
ORPHA:3376 |
Alg3-Cdg |
|
Macroglossia, Neural tube defect, Cardiomyopathy, High palate, Abnormal uvula morphology |
ORPHA:79321 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, High palate, Spina bifida |
ORPHA:1327 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High pala... |
ORPHA:2437 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Cleft palate, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occu... |
ORPHA:2311 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Cleft palate |
ORPHA:60015 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Bilateral cleft lip and palate |
ORPHA:2003 |
Waardenburg Syndrome Type 1 |
|
Cleft palate, Meningocele, Aganglionic megacolon, Spina bifida |
ORPHA:894 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate |
OMIM:614424 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi... |
ORPHA:1393 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Meningocele |
ORPHA:2031 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Spina bifida |
ORPHA:99742 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, High, narrow palate, Meningocele, High palate, Umbilical hernia |
ORPHA:2789 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Mening... |
OMIM:130720 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, High palate, Cleft palate, Spina bifida |
OMIM:616038 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Ectopic anu... |
OMIM:613686 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Intestinal malrotation, Spina bifida, Dextrocardia, Abnormal heart val... |
ORPHA:99776 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia |
ORPHA:2839 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Median cleft palate |
ORPHA:1827 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Lumbar Syndrome |
|
Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida |
ORPHA:83628 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, High, narrow palate, Hydrocephalus, High palate, Umbilical hernia |
OMIM:613776 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ... |
ORPHA:3412 |
Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Esophageal atresia, Anencephaly, Cleft palate, Narrow pa... |
ORPHA:3380 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lipomyelomeningocele, Occip... |
OMIM:601707 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Trisomy 20P |
|
Umbilical hernia, Ectopic anus, Spina bifida |
ORPHA:261318 |
Cloacal Exstrophy |
|
Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Anal atresia |
ORPHA:93929 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... |
ORPHA:2092 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Atrial septal defect, Occipital me... |
OMIM:616546 |
Lathosterolosis |
|
Intrauterine growth retardation, Meningocele, High palate |
ORPHA:46059 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cleft palate, Cardiac... |
OMIM:109400 |
Phocomelia, Schinzel Type |
|
High, narrow palate, Meningocele, Tracheoesophageal fistula, Cleft palate, Intrauterine growth re... |
ORPHA:2879 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart |
ORPHA:991 |
Nail-Patella Syndrome |
|
Cleft palate, Spina bifida |
OMIM:161200 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Neu-Laxova Syndrome |
|
Spina bifida, Submucous cleft hard palate, Cleft palate, Intrauterine growth retardation, Bifid u... |
ORPHA:2671 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Cleft palate, Lobulated tongue, High palate, Hypoplastic left heart, Occipit... |
OMIM:277170 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... |
OMIM:192350 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft palate, Stillbirth, Shor... |
OMIM:256520 |
Fanconi Anemia |
|
Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Patent ductus arteriosus, H... |
ORPHA:84 |
Jacobsen Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Spina bifida, Pyloric stenosis, Abnormality of... |
ORPHA:2308 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele |
ORPHA:397715 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Atrioventricular canal defect, Bifid uvula, Spina bifida |
OMIM:619480 |
22Q11.2 Deletion Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Spina bifida, Ventricular septal defect, Abnormal ... |
ORPHA:567 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Narrow palate, High palate, Spina bifida |
OMIM:234100 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Tetralogy of Fallot, Perimembrano... |
ORPHA:508498 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Tetralogy of Fallot, Cleft pal... |
OMIM:274000 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle... |
OMIM:610828 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Pyloric stenosis, Patent ductus arteriosus, Occipital meningocele, Spina... |
OMIM:267750 |
Aicardi Syndrome |
|
Cleft palate, Spina bifida, Hiatus hernia |
OMIM:304050 |
Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Spinal dysraphism, Abnorm... |
OMIM:114290 |
Marfan Syndrome |
|
Mitral valve calcification, High, narrow palate, Meningocele, Cleft palate, Mitral valve prolapse |
ORPHA:558 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363958 |
Arima Syndrome |
|
Occipital meningocele, Esophageal varix |
OMIM:243910 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, High, narrow palate, Patent ductus arteriosus, Cleft pal... |
OMIM:180849 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Bifid uvula |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Bifid uvula |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Bifid uvula |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Bifid uvula |
ORPHA:93924 |
Exstrophy-Epispadias Complex |
|
Anal stenosis, Spina bifida, Hydrocephalus, Abnormal heart morphology, Anal atresia |
ORPHA:322 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Hydrocephalus, Cleft palate, Stillbirth, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, High palate, Narrow palate |
OMIM:276820 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect |
OMIM:219730 |
Focal Segmental Glomerulosclerosis 9 |
|
|
OMIM:616220 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
|
ORPHA:656 |