Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... |
ORPHA:2476 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Cleft palat... |
ORPHA:2345 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Acalvaria |
|
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Short neck, Increased nuchal translucency, Holoprosencephaly, Low-set ea... |
OMIM:619879 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Dextrocardia, Spina bifida, Hydroc... |
ORPHA:2437 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:63862 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Spina bifida, Aplasia/Hypoplasia of the earlobes, Cleft palate... |
ORPHA:1104 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Low-set, posteriorly rotated ears, Ventricular septal defect, Situs inversus total... |
ORPHA:1908 |
Caudal Duplication |
|
Myelomeningocele, Intestinal duplication, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Hydrocephalus, Cleft palate, Spinal... |
ORPHA:1926 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Conductive hearing impairment, Sensorineural hearing impairmen... |
ORPHA:1131 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Cleft palate, Coloboma, Truncus arteriosus |
OMIM:615583 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Spina bifida, Abnormality of dental eruption... |
ORPHA:1327 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Cleft palate, Spina bifida |
ORPHA:957 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, ... |
OMIM:617660 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Neonatal death, Pul... |
OMIM:601186 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Conductive hearing impairment, Myelomeningocele, Meningo... |
ORPHA:1393 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... |
OMIM:252011 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Abnormal cardiac septum morphology, Single ventricle, Umbilical hernia, Hearing impai... |
OMIM:308050 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Short nec... |
ORPHA:99776 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Spina bifida, Hydrocephalus, Cleft palate, Microtia, Retinal coloboma,... |
ORPHA:2839 |
Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Patent ductus arteriosus, Partial anomal... |
ORPHA:185 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Spina bifida, Congenital sensorineural hearing impairment, Meningocele, Cl... |
ORPHA:894 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Cleft palate, Ab... |
ORPHA:453499 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Spina bifida, Esophageal atresia, A... |
ORPHA:3380 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Dextrocardia, Diastomatomyelia, Meningocele, Duodenal stenosis, Abnormal ... |
ORPHA:1759 |
Sirenomelia |
|
Anal atresia, Tracheoesophageal fistula, Spina bifida, Sirenomelia |
ORPHA:3169 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
Fountain Syndrome |
|
Sensorineural hearing impairment, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Holoprosencephaly 2 |
|
Median cleft lip and palate, Cyclopia, Remnants of the hyaloid vascular system, Alobar holoprosen... |
OMIM:157170 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia |
ORPHA:63260 |
Holoprosencephaly |
|
Encephalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m... |
ORPHA:2162 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Syr... |
ORPHA:63259 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Duodenal atresia, Abnormal car... |
ORPHA:2092 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Spina bifida |
ORPHA:99742 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Patent d... |
OMIM:270100 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Intestinal malrotation, Dilatated in... |
OMIM:113650 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Short neck, Cleft palate, High palate, Low-set ears |
OMIM:616038 |
Chromosome 17P13.1 Deletion Syndrome |
|
Posteriorly rotated ears, Spina bifida, Short neck, High, narrow palate, Hydrocephalus, High pala... |
OMIM:613776 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Patent ductus art... |
OMIM:619702 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Spina bifida, Short neck, Protruding ear, Low posterior hairli... |
ORPHA:261318 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect, Anterior encephalocele, Coloboma, Holoprosence... |
OMIM:601357 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Single ventricle, Cyclopia, Ethmocephaly, Median cleft lip and palate |
OMIM:236100 |
Bor Syndrome |
|
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Branchiootic Syndrome |
|
Branchial fistula, Sensorineural hearing impairment, Cleft palate, Atresia of the external audito... |
ORPHA:52429 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ... |
OMIM:109400 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Sensorineural hearing impairment, Protruding ear |
ORPHA:435938 |
Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Intestinal malrotation, Spina bifid... |
ORPHA:2308 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Tethered cord, Posteriorly rotated ears, Spina bifida, Patent ductus arteriosus, Cup... |
OMIM:619480 |
Vacterl With Hydrocephalus |
|
Microtia, third degree, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tra... |
ORPHA:3412 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Short neck, C... |
ORPHA:508498 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Optic disc... |
ORPHA:261337 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... |
ORPHA:352665 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... |
ORPHA:860 |
Phakomatosis Pigmentokeratotica |
|
Coloboma, Spina bifida |
ORPHA:2874 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Shor... |
ORPHA:261330 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Spina bifida, High, narrow palate, Optic disc coloboma, Narrow palate, High palate, ... |
OMIM:234100 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... |
OMIM:619167 |
Triploidy |
|
Low-set, posteriorly rotated ears, Intestinal malrotation, Short neck, Hydrocephalus, Meningocele... |
ORPHA:3376 |
Neu-Laxova Syndrome 1 |
|
Broad neck, Ventricular septal defect, Spina bifida, Short neck, Patent ductus arteriosus, Cleft ... |
OMIM:256520 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart |
ORPHA:991 |
Lumbar Syndrome |
|
Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida |
ORPHA:83628 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hearing impairment |
ORPHA:2260 |
22Q11.2 Deletion Syndrome |
|
Short neck, Conductive hearing impairment, Atrial septal defect, Small earlobe, Spina bifida, Pat... |
ORPHA:567 |
Fanconi Anemia |
|
Meckel diverticulum, Aganglionic megacolon, Spina bifida, External ear malformation, Aplasia/Hypo... |
ORPHA:84 |
Nail-Patella Syndrome |
|
Cleft palate, Sensorineural hearing impairment, Spina bifida |
OMIM:161200 |
Cloacal Exstrophy |
|
Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Anal atresia |
ORPHA:93929 |
Neu-Laxova Syndrome |
|
Spina bifida, Submucous cleft hard palate, Cleft palate, Macrotia, Bifid uvula |
ORPHA:2671 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tethered cord, Ventricular septal defect, Spina bifida, Esophageal atres... |
OMIM:192350 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft pal... |
OMIM:274000 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus, Tracheoesophageal fistula, Cleft pala... |
ORPHA:861 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Meningocele, Low posterior hairline, Webbed neck |
ORPHA:3456 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism |
OMIM:603546 |
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 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Simple ear, High, narrow palate, Patent ductus arteriosu... |
OMIM:180849 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay, Intracranial ... |
OMIM:614424 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Short neck, Meningocele,... |
ORPHA:2311 |
Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Abnormal heart morphology... |
OMIM:114290 |
Waardenburg Syndrome, Type 1 |
|
Congenital sensorineural hearing impairment, Myelomeningocele, Spina bifida |
OMIM:193500 |
Alg3-Cdg |
|
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Neural tube defect |
ORPHA:79321 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Webbed neck, Tethered cord, Spinal dysraphism |
OMIM:612918 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Mixed hearing impairment, Iris coloboma, Conductive hearing impairme... |
OMIM:620186 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Short neck, Malabsorption, Spinal dysra... |
ORPHA:175 |
Ulnar Hemimelia |
|
Spinal dysraphism |
ORPHA:93320 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Short stature, Short nec... |
OMIM:130720 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... |
OMIM:600145 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Aicardi Syndrome |
|
Cleft palate, Optic disc coloboma, Spina bifida, Hiatus hernia |
OMIM:304050 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Prominent antihelix, Branchial anomaly, Posteriorly rotated ears, Hearing impairment |
ORPHA:466950 |
Muscle-Eye-Brain Disease |
|
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular... |
ORPHA:508488 |
Exstrophy-Epispadias Complex |
|
Anal stenosis, Spina bifida, Hydrocephalus, Abnormal heart morphology, Anal atresia |
ORPHA:322 |
Otopalatodigital Syndrome, Type Ii |
|
Posteriorly rotated ears, Spina bifida, Short neck, Conductive hearing impairment, Hydrocephalus,... |
OMIM:304120 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Cystic hygroma |
OMIM:603194 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Short stature, Dextrocardia, Short neck, Situs inversus totalis, Hydrocephalus, Myelomeningocele,... |
OMIM:613686 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Short neck, Meningocele, Low posterior hairline, Umbilical hernia |
ORPHA:2789 |
Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... |
ORPHA:573278 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Sens... |
OMIM:164210 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
Branchiooculofacial Syndrome |
|
Posteriorly rotated ears, Short neck, Malrotation of colon, Pyloric stenosis, Sensorineural heari... |
OMIM:113620 |
Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Meningocele, Lipomyelomeningocele, Limitation of neck motion, Neura... |
ORPHA:268810 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Ventricular septal defect, Posteriorly rotated ears, Short neck, Large place... |
ORPHA:96334 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Double inlet left ventricle, High palate, Atrial septal defect, Tetralo... |
OMIM:619869 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Short stature |
ORPHA:2031 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Short neck, Hydrocephalus, Anencephaly, Atrial septal defect, Oc... |
OMIM:616546 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Uplifted earlobe, High, narrow palate, Sensorineural hearing impairment, Cuppe... |
OMIM:613406 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Hypoplastic left heart, Short stature |
OMIM:277170 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Redundant neck skin, Short stature, Rhizomelic leg shortening, Meningoce... |
ORPHA:397715 |
Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
Semilobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Growth delay, Neura... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Growth delay, Neura... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Short stature, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Growth delay, Neura... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Short stature, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Growth delay, Neura... |
ORPHA:93924 |
Marfan Syndrome |
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Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Meningocele, Mitra... |
ORPHA:558 |
Phocomelia, Schinzel Type |
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Intrauterine growth retardation, Disproportionate short stature, Meningocele, Short neck |
ORPHA:2879 |
Knobloch Syndrome 1 |
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Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Curry-Jones Syndrome |
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Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Meningocele, Flexion contracture of finger |
ORPHA:1010 |
Arima Syndrome |
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Growth delay, Occipital meningocele, Hypertension |
OMIM:243910 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Aprosencephaly And Cerebellar Dysgenesis |
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Aprosencephaly, Bifid uvula |
OMIM:601374 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Short neck, Disproportionate short stature, Elbow flexion contracture, Occipital meningocele, Bro... |
OMIM:276820 |
Posterior Polymorphous Corneal Dystrophy |
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ORPHA:98973 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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OMIM:122000 |