Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosenceph... |
OMIM:609637 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Abnormal cardiac septum morphology, Tracheoesophageal fistula, Intestinal atresia |
ORPHA:93941 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly |
OMIM:611638 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly |
OMIM:619033 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Transposition of the great arteries,... |
OMIM:314390 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula |
ORPHA:1923 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Holoprosencephaly 11 |
|
Holoprosencephaly |
OMIM:614226 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly |
ORPHA:2117 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Distal Deletion 13Q |
|
Encephalocele, Anencephaly, Holoprosencephaly |
ORPHA:1590 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Holoprosencephaly |
ORPHA:2570 |
Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, Tracheoesophageal fistula, Mitral valve prolapse, High palate, Duodenal a... |
ORPHA:115 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Bronchiectasis, Dextrocardia |
OMIM:618254 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly |
OMIM:601370 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly |
ORPHA:293 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Bronchomalacia, Tracheomalacia, Cardiomegaly, Anomalous tracheal carti... |
ORPHA:95430 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:93274 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect, Tracheoesophageal fistula |
ORPHA:77298 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... |
OMIM:601346 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
Hereditary Mucoepithelial Dysplasia |
|
Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue |
ORPHA:1839 |
Ring Chromosome 21 Syndrome |
|
Holoprosencephaly |
ORPHA:1445 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Distal Monosomy 7Q36 |
|
Holoprosencephaly |
ORPHA:1636 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... |
OMIM:619227 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul... |
OMIM:300514 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Duodenal stenosis |
ORPHA:1759 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Dextrocardia, Patent ductus arteriosus, Tracheoesophageal fistula, High palate, Atrial septal def... |
OMIM:277380 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Syr... |
ORPHA:63259 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal bronchus morphology, Abnormal stomach morphology, Patent duct... |
ORPHA:141127 |
Czeizel-Losonci Syndrome |
|
Tracheoesophageal fistula, High palate, Dextrocardia |
ORPHA:2437 |
Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia |
ORPHA:142 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Infantile Myofibromatosis |
|
Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula |
ORPHA:2591 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... |
ORPHA:1780 |
Lambotte Syndrome |
|
Semilobar holoprosencephaly |
OMIM:245552 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly |
OMIM:615433 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Neonatal death, Atrial septal defect, Atrioventric... |
OMIM:265380 |
Vacterl/Vater Association |
|
Anorectal anomaly, Tracheoesophageal fistula, Cleft palate, Abnormal cardiac septum morphology, T... |
ORPHA:887 |
Axial Mesodermal Dysplasia Spectrum |
|
Anorectal anomaly, Tracheoesophageal fistula, Gastroesophageal reflux, Abnormal intestine morphol... |
ORPHA:1834 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly |
ORPHA:2165 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Neonatal death, Esophageal atresia, Tracheoesophageal fistula |
OMIM:619859 |
Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Pyloric stenosis, Gastroint... |
ORPHA:1199 |
Acces Syndrome |
|
Tracheoesophageal fistula |
OMIM:619959 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
Rhombencephalosynapsis |
|
Esophageal atresia, Aganglionic megacolon, Tracheoesophageal fistula, Anal atresia |
ORPHA:59315 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida |
ORPHA:1327 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:611884 |
Monosomy 18P |
|
Holoprosencephaly |
ORPHA:1598 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Malabsorption, Intestinal perforation, Tracheo... |
ORPHA:537 |
Agnathia-Otocephaly Complex |
|
Holoprosencephaly |
OMIM:202650 |
1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly |
ORPHA:250999 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Tracheoesophageal fistula |
ORPHA:3068 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Tracheomalacia, Patent ductus arteriosus, Tracheoesophageal fistula, C... |
ORPHA:2745 |
Holoprosencephaly 4 |
|
Semilobar holoprosencephaly |
OMIM:142946 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Esophageal atresia, Patent ductus... |
OMIM:164280 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta |
ORPHA:2956 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:617577 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Holoprosencephaly |
ORPHA:990 |
Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate |
ORPHA:3157 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Holoprosencephaly |
ORPHA:2163 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, High palate, Dextrocardia, Anal atresia |
ORPHA:2863 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Solitary Median Maxillary Central Incisor |
|
Holoprosencephaly |
OMIM:147250 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Tracheoesophageal fistula, Malabsorption |
ORPHA:379 |
Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Ventricular septal defect, Tracheoesophageal fistula |
ORPHA:268249 |
Arachnoid Cyst |
|
Encephalocele, Spinal cord compression, Spinal arachnoid cyst, Hydrocephalus, Abnormal spinal men... |
ORPHA:2356 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... |
OMIM:600145 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Atrial septal defect, P... |
OMIM:301030 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida |
ORPHA:1393 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Diabetic Embryopathy |
|
Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
Acro-Renal-Mandibular Syndrome |
|
Tracheoesophageal fistula, High palate, Aplasia/Hypoplasia of the tongue |
ORPHA:958 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Abnormal heart morphology |
OMIM:227646 |
Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Bronchiectasis, Gastroesophageal reflux, Dextrocardia |
OMIM:615482 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Holoprosencephaly |
OMIM:612530 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:606763 |
Fanconi Anemia |
|
Meckel diverticulum, Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Patent ductus arteri... |
ORPHA:84 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Bronchiectasis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Renal Agenesis, Bilateral |
|
Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate |
ORPHA:1848 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Holoprosencephaly |
OMIM:619879 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Spinal dysraphism |
OMIM:612918 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
49,Xxxxy Syndrome |
|
Holoprosencephaly |
ORPHA:96264 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Holoprosencephaly, Semilobar holoprosencephaly |
ORPHA:556955 |
Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Tracheoesophageal fistula, Intestinal malrotation, Anal atresia |
ORPHA:2973 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal heart morpho... |
ORPHA:1666 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Spinal dysraphism |
OMIM:617660 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Trisomy 18 |
|
Anencephaly, Holoprosencephaly, Spina bifida |
ORPHA:3380 |
Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... |
ORPHA:268810 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Telangiectasia of the skin, Malabsorption, Anorectal anomaly, Tracheoesophag... |
ORPHA:1775 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Umbilical hernia, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
Microform Holoprosencephaly |
|
Holoprosencephaly |
ORPHA:280200 |
Vacterl With Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
ORPHA:3412 |
Holoprosencephaly 14 |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:619895 |
Isolated Exencephaly |
|
Holoprosencephaly |
ORPHA:563612 |
16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly |
ORPHA:261236 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Cleft palate |
OMIM:614083 |
Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges... |
ORPHA:185 |
Holoprosencephaly |
|
Encephalocele, Hydrocephalus, Spinal cord tumor, Spinal dysraphism, Branchial anomaly, Holoprosen... |
ORPHA:2162 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Patent ductus arteriosus, Partia... |
OMIM:619657 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Rectal prolapse, Gastroesophageal ref... |
ORPHA:904 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:615444 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Holoprosencephaly 3 |
|
Holoprosencephaly |
OMIM:142945 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Tracheoesophageal fistula, Cleft palate, Glossoptosis, High palate, Rec... |
ORPHA:861 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:619607 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m... |
ORPHA:2369 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly |
OMIM:611134 |
Penile Agenesis |
|
Ventricular septal defect, Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Atrial s... |
ORPHA:49 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism |
OMIM:603546 |
Phocomelia, Schinzel Type |
|
High, narrow palate, Anal atresia, Tracheoesophageal fistula, Cleft palate |
ORPHA:2879 |
Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Holoprosencephaly |
OMIM:612651 |
Halperin-Birk Syndrome |
|
Umbilical hernia, Semilobar holoprosencephaly |
OMIM:618651 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Lobar holoprosencephaly |
OMIM:614701 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Vater/Vacterl Association |
|
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul... |
OMIM:192350 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Charge Syndrome |
|
Abnormal soft palate morphology, Patent ductus arteriosus, Tracheoesophageal fistula, Cleft palat... |
ORPHA:138 |
Steinfeld Syndrome |
|
Holoprosencephaly |
OMIM:184705 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly |
OMIM:603194 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Spina bifida |
ORPHA:991 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Mosaic Trisomy 9 |
|
Spina bifida |
ORPHA:99776 |
Charge Syndrome |
|
Anal stenosis, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Esopha... |
OMIM:214800 |
Pallister-Hall Syndrome |
|
Neonatal death, Holoprosencephaly |
OMIM:146510 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Dextrocardia, Cleft palate, Abnormal tracheal morphology |
ORPHA:2257 |
Ulnar Hemimelia |
|
Spinal dysraphism |
ORPHA:93320 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Abnormal aortic valve mo... |
ORPHA:261197 |
Jacobsen Syndrome |
|
Hydrocephalus, Holoprosencephaly |
OMIM:147791 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Neu-Laxova Syndrome |
|
Spina bifida |
ORPHA:2671 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Inte... |
OMIM:270100 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Neonatal death, Semilobar holoprosencephaly, Lobar holoprosencephaly |
OMIM:618500 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Patent ductus art... |
OMIM:619702 |
Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... |
ORPHA:573278 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Tracheoesophageal fistula, Recto... |
OMIM:107480 |
Hartsfield Syndrome |
|
Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly |
OMIM:615465 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Hypertension, Dextrocardia |
OMIM:613095 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Spina bifida |
ORPHA:2092 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Tricuspid regurgitation, High palate, Dextrocardia |
OMIM:618929 |
Johanson-Blizzard Syndrome |
|
Dextrocardia, Malabsorption, Anteriorly placed anus, Abnormal cardiac septum morphology, Anal atr... |
ORPHA:2315 |
Hallermann-Streiff Syndrome |
|
Spina bifida |
OMIM:234100 |
Meckel Syndrome |
|
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly |
ORPHA:564 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Mosaic Variegated Aneuploidy Syndrome |
|
Holoprosencephaly |
ORPHA:1052 |
Marden-Walker Syndrome |
|
Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, Hi... |
OMIM:248700 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly |
ORPHA:3186 |
Monosomy 13Q14 |
|
Holoprosencephaly |
ORPHA:1587 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Anal stenosis, Ectopic anus, Dextrocardia |
OMIM:613686 |
Chromosome 13Q14 Deletion Syndrome |
|
Umbilical hernia, Holoprosencephaly |
OMIM:613884 |
Holoprosencephaly 9 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:610829 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida |
OMIM:619480 |
Holoprosencephaly 13, X-Linked |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly |
OMIM:301043 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Smith-Lemli-Opitz Syndrome |
|
Holoprosencephaly |
ORPHA:818 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida |
ORPHA:508498 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Holoprosencephaly |
OMIM:618820 |
Holoprosencephaly 2 |
|
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death |
OMIM:256520 |
Campomelic Dysplasia |
|
Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Thrombocytopenia-Absent Radius Syndrome |
|
Syringomyelia, Spina bifida |
OMIM:274000 |
22Q11.2 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical hernia |
ORPHA:567 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Spina bifida, Dural ectasia |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Spina bifida, Dural ectasia |
ORPHA:363958 |
Jacobsen Syndrome |
|
Spina bifida |
ORPHA:2308 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Transposition of the great arteries, Cleft palate, Ectopia cordis |
OMIM:313850 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Lobar holoprosencephaly |
ORPHA:468631 |
Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Holoprosencephaly |
OMIM:270400 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Holoprosencephaly |
OMIM:615948 |
Holoprosencephaly 1 |
|
Ethmocephaly, Alobar holoprosencephaly |
OMIM:236100 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Dextrocardia, Cleft palate |
ORPHA:220493 |
Ring Chromosome 7 Syndrome |
|
Holoprosencephaly |
ORPHA:1449 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula, Abnormal cardiac ... |
OMIM:614294 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Tetralogy of Fallot, Dextrocardia, Abnormal heart morphology |
ORPHA:96092 |
Proboscis Lateralis |
|
Holoprosencephaly |
ORPHA:141099 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida occulta, Spina bifida |
OMIM:180849 |
Cartilage-Hair Hypoplasia |
|
Spinal dysraphism |
ORPHA:175 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Semilobar holoprosencephaly |
OMIM:301044 |
Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida |
OMIM:304120 |
Knobloch Syndrome |
|
Pyloric stenosis, Patent ductus arteriosus, Dextrocardia |
ORPHA:1571 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Submucous clef... |
ORPHA:2461 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Holoprosencephaly |
ORPHA:95494 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Semilobar holoprosencephaly |
OMIM:129900 |
Pallister-Hall Syndrome |
|
Umbilical hernia, Holoprosencephaly |
ORPHA:672 |
Constricting Bands, Congenital |
|
Ectopia cordis, Cleft palate |
OMIM:217100 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Gast... |
OMIM:619534 |
Neurooculorenal Syndrome |
|
Dextrocardia, Intestinal malrotation, Mitral valve prolapse, Anteriorly placed anus, Tetralogy of... |
OMIM:620305 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... |
ORPHA:536545 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large placenta, Spinal dysraphism |
ORPHA:96334 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Glossoptosis, High palat... |
OMIM:616145 |
Tetrasomy 9P |
|
Pericarditis, Dextrocardia, Raynaud phenomenon, Cleft palate, Abnormal cardiac septum morphology,... |
ORPHA:3310 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Submucous cleft hard palate, D... |
OMIM:300166 |
Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus... |
OMIM:614976 |
Restrictive Dermopathy |
|
Dextrocardia, Patent ductus arteriosus, Submucous cleft hard palate, Transposition of the great a... |
ORPHA:1662 |
Floating-Harbor Syndrome |
|
Celiac disease, Tetralogy of Fallot, Gastroesophageal reflux, Atrial septal defect, Mesocardia |
ORPHA:2044 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Celiac disease |
OMIM:136140 |
Poland Syndrome |
|
Atrial septal defect, Dextrocardia |
ORPHA:2911 |