Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Hypoplastic left heart, Cleft... |
ORPHA:2476 |
Isolated Klippel-Feil Syndrome |
|
Webbed neck, Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Short neck, Low... |
ORPHA:2345 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... |
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 |
Acalvaria |
|
Spina bifida, Cleft palate, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... |
OMIM:601493 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Duodenal atresia, Right atrial isomer... |
OMIM:306955 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
Meckel Syndrome 14 |
|
Holoprosencephaly, Short neck, Single ventricle, Occipital encephalocele, Increased nuchal transl... |
OMIM:619879 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Bicuspid aortic valve, Abn... |
ORPHA:1120 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, High palate, Hypoplastic helices, Spina bifida, Prominent antitragus, Hydroceph... |
ORPHA:2437 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Cleft palate |
ORPHA:63862 |
Anophthalmia Plus Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Spina bifida, Iris coloboma, Low-set, posteriorly rotated ear... |
ORPHA:1104 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocepha... |
ORPHA:1908 |
Caudal Duplication |
|
Spina bifida, Spinal cord lesion, Myelomeningocele, Intestinal duplication |
ORPHA:1756 |
Diabetic Embryopathy |
|
Abnormality of the neck, Spinal dysraphism, Ventricular septal defect, Microtia, Hydrocephalus, L... |
ORPHA:1926 |
X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, High palate, Branchial anomaly, Abnormal mitral valve morphology, ... |
ORPHA:1131 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Microtia, Spina bifida, Abnormality of dental eruption, Attached earlobe, Low-set, p... |
ORPHA:1327 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... |
OMIM:616501 |
Acropectorovertebral Dysplasia |
|
Spina bifida, Cleft palate, High, narrow palate |
ORPHA:957 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar... |
OMIM:208530 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Ventricular septal defect, Secundum atrial septal defect, Complete... |
OMIM:613854 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy |
OMIM:207950 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Sensorineural hearing impairment, Incomplete partition of the cochlea type II,... |
OMIM:617660 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Conductive hearing impairment, Myelomeningocele, Ventricular septal defect, Webbed n... |
ORPHA:1393 |
Mosaic Trisomy 9 |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Low-set ears, Webbed neck, Spin... |
ORPHA:99776 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Low-set ears, Hypoplasti... |
OMIM:601186 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Short stature, Abnormal mitochondria in muscle tissue, Dilated cardiomyopath... |
OMIM:252011 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Stillbirth, Single ventricle, Hearing impairment, Umbilical h... |
OMIM:308050 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Submucous cleft hard pa... |
OMIM:609166 |
Pelvis-Shoulder Dysplasia |
|
Microtia, Spina bifida, Hydrocephalus, Hydranencephaly, Iris coloboma, Microglossia, Abnormal pin... |
ORPHA:2839 |
Scimitar Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Truncus arteriosus, Vent... |
ORPHA:185 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida, Aganglionic megacolon, Congenital sensorineural hearing impairment, Cl... |
ORPHA:894 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, High palate, Branchial anomaly, Ventricular septal defect, Colobom... |
ORPHA:453499 |
Trisomy 18 |
|
Pointed helix, Narrow palate, Ventricular septal defect, Webbed neck, Esophageal atresia, Spina b... |
ORPHA:3380 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Limb Body Wall Complex |
|
Myelomeningocele, Encephalocele, Ventricular septal defect, Spina bifida, Short umbilical cord, A... |
ORPHA:2369 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Diastomatomyelia, Duodenal stenosis, Intestinal malrotation, Dextrocardia, Abnormal ... |
ORPHA:1759 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
Congenital Tracheomalacia |
|
Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Single ventricle, Atrial... |
ORPHA:95430 |
Sirenomelia |
|
Spina bifida, Sirenomelia, Anal atresia, Tracheoesophageal fistula |
ORPHA:3169 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Fountain Syndrome |
|
Spina bifida occulta, Sensorineural hearing impairment, Spina bifida |
ORPHA:3219 |
Holoprosencephaly 2 |
|
Bifid uvula, Semilobar holoprosencephaly, Submucous cleft hard palate, Alobar holoprosencephaly, ... |
OMIM:157170 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Sirenomelia, Cervical spina bifida |
ORPHA:63260 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular s... |
ORPHA:2162 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Iniencephaly |
|
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Ana... |
ORPHA:63259 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Abnormal left ventricular outflow tract morphology, Ambiguous atrioventricular connection, Double... |
ORPHA:216694 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Patent duct... |
OMIM:270100 |
Focal Dermal Hypoplasia |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal cardiac septum morphology, Spina bi... |
ORPHA:2092 |
Amish Lethal Microcephaly |
|
Spina bifida, Cleft soft palate |
ORPHA:99742 |
Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, High palate, Sensorineural hearing impairment, Incomplete partitio... |
OMIM:113650 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Neu-Laxova Syndrome 2 |
|
High palate, Spina bifida, Short neck, Cleft palate, Low-set ears |
OMIM:616038 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Congenitally corre... |
OMIM:619702 |
Aortic Arch Interruption |
|
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Aortopulmonary win... |
ORPHA:2299 |
Trisomy 20P |
|
Abnormal antihelix morphology, Macrotia, Ectopic anus, Spina bifida, Short neck, Low posterior ha... |
ORPHA:261318 |
Bor Syndrome |
|
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Ex... |
ORPHA:107 |
Branchiootic Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Morphological abnormality of the... |
ORPHA:52429 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Anterior encephalocele, Ventricular septal defect, Coloboma, Holoprosencephaly, Bilateral cleft p... |
OMIM:601357 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Sensorineural hearing impairment, Protruding ear |
ORPHA:435938 |
Basal Cell Nevus Syndrome 1 |
|
Hamartomatous stomach polyps, Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma, ... |
OMIM:109400 |
Jacobsen Syndrome |
|
Webbed neck, Abnormality of the anus, Ectopic anus, Ventricular septal defect, Spina bifida, Apla... |
ORPHA:2308 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Microtia, third degree, Esophageal atresia, Spina bifida, Anotia, Arrhinence... |
ORPHA:3412 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Abnormal antihelix morphology, High palate, Ventricular septal defect, ... |
ORPHA:261337 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... |
ORPHA:508498 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Torticollis, Bifid uvula, ... |
OMIM:619480 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Conductive hearing impairment, Bifid tongue, Branchial anomaly, Ventricular septal defect, Exagge... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Conductive hearing impairment, Bifid tongue, Branchial anomaly, Ventricular septal defect, Exagge... |
ORPHA:352665 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Dextrotransposition of the great arteries, Left ventricular outflow tra... |
ORPHA:860 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Coloboma |
ORPHA:2874 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Median cleft lip and palate, Cyclopia, Single ventricle, Ethmocephaly |
OMIM:236100 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Triploidy |
|
Meningocele, Abnormal cardiac septum morphology, Hydrocephalus, Macroglossia, Intestinal malrotat... |
ORPHA:3376 |
Hallermann-Streiff Syndrome |
|
High palate, Narrow palate, Natal tooth, Spina bifida, Iris coloboma, Chorioretinal coloboma, Low... |
OMIM:234100 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Short stature, Atrial sep... |
ORPHA:261330 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hearing impairment |
ORPHA:2260 |
Pagod Syndrome |
|
Meningocele, Encephalocele, Spina bifida, Hypoplastic left heart, Situs inversus totalis |
ORPHA:991 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Conductive hearing impairment, Truncus arteriosus, Short neck, Cleft palate, Hearing... |
ORPHA:567 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele, Anal atresia, Ectopic anus |
ORPHA:83628 |
Neu-Laxova Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Macrotia, Ventricular septal defect, Broad neck, ... |
OMIM:256520 |
Fanconi Anemia |
|
Patent ductus arteriosus, High palate, Abnormal cardiac septum morphology, Spina bifida, Aganglio... |
ORPHA:84 |
Nail-Patella Syndrome |
|
Spina bifida, Cleft palate, Sensorineural hearing impairment |
OMIM:161200 |
Neu-Laxova Syndrome |
|
Macrotia, Spina bifida, Bifid uvula, Submucous cleft hard palate, Cleft palate |
ORPHA:2671 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida, Anal atresia, Intestinal malrotation, Intestinal duplication |
ORPHA:93929 |
Thrombocytopenia-Absent Radius Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Spina bifida,... |
OMIM:274000 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Conductive hearing impairment, Encephalocele, High palate, Narrow inter... |
ORPHA:861 |
Wildervanck Syndrome |
|
Meningocele, Webbed neck, Short neck, Low posterior hairline, Facial palsy |
ORPHA:3456 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism |
OMIM:603546 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Facial telangiectasia, Short stature, Contracture of the proximal interphalange... |
OMIM:620141 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Spina bifida, Patent ura... |
OMIM:192350 |
Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Hypertension, Intracranial ... |
OMIM:614424 |
Rubinstein-Taybi Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Narrow palate, Ventricular septal de... |
OMIM:180849 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Camptodactyly of finger, Short stature, Spina bifida occulta, Congenital diaphragmat... |
ORPHA:2311 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Webbed neck, Spinal dysraphism, Tethered cord |
OMIM:612918 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Congenital sensorineural hearing impairment |
OMIM:193500 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Macrotia, Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Atrial s... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Macrotia, Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Atrial s... |
ORPHA:363958 |
Campomelic Dysplasia |
|
Spinal dysraphism, High palate, Conductive hearing impairment, Low-set ears, Spina bifida, Hydroc... |
OMIM:114290 |
Alg3-Cdg |
|
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Neural tube defect |
ORPHA:79321 |
Cartilage-Hair Hypoplasia |
|
Spinal dysraphism, Macrotia, Abnormal cardiac septum morphology, Malabsorption, Aganglionic megac... |
ORPHA:175 |
Ulnar Hemimelia |
|
Spinal dysraphism |
ORPHA:93320 |
Lateral Meningocele Syndrome |
|
Meningocele, Patent ductus arteriosus, Decreased muscle mass, Ventricular septal defect, Short st... |
OMIM:130720 |
Sacral Defect With Anterior Meningocele |
|
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Rectal abscess, Tethered cord, Myelosc... |
OMIM:600145 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec... |
ORPHA:99125 |
Aicardi Syndrome |
|
Spina bifida, Cleft palate, Optic disc coloboma, Hiatus hernia |
OMIM:304050 |
Subependymal Nodular Heterotopia |
|
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele |
ORPHA:101030 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Myopathy, Hydrocephalus |
ORPHA:588 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Hearing impairment, Posteriorly rotated ears, Branchial anomaly, Prominent antihelix |
ORPHA:466950 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Hydrocephalus, Anal atresia, Abnormal heart morphology, Anal stenosis |
ORPHA:322 |
Otopalatodigital Syndrome, Type Ii |
|
Conductive hearing impairment, Spina bifida, Hydrocephalus, Atrial septal defect, Posteriorly rot... |
OMIM:304120 |
Meckel Syndrome, Type 2 |
|
Meningocele, Encephalocele, Anencephaly, Intrauterine growth retardation, Cystic hygroma |
OMIM:603194 |
Neurofibromatosis, Type I |
|
Spina bifida, Hydrocephalus, Aqueductal stenosis |
OMIM:162200 |
8Q24.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Infancy onset short-trunk short stature,... |
ORPHA:508488 |
Cardiac Valvular Dysplasia 1 |
|
Patent foramen ovale, Ventricular septal defect, Valvular pulmonary stenosis, Mitral stenosis, Mi... |
OMIM:212093 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Left ventricular nonco... |
OMIM:300967 |
Lateral Meningocele Syndrome |
|
Meningocele, Ventricular septal defect, Short neck, Low posterior hairline, Umbilical hernia |
ORPHA:2789 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Broad neck, Short stature, Hydrocephalus, Spina bifida occulta, Situs inversus ... |
OMIM:613686 |
Split Cord Malformation |
|
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Spinal cord tumor, Syringomyelia, Teth... |
ORPHA:573278 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Craniofacial Microsomia |
|
Patent ductus arteriosus, Conductive hearing impairment, Sensorineural hearing impairment, Branch... |
OMIM:164210 |
Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage |
ORPHA:2481 |
Branchiooculofacial Syndrome |
|
Hypoplastic superior helix, Fusion of middle ear ossicles, Conductive hearing impairment, Sensori... |
OMIM:113620 |
Posterior Meningocele |
|
Meningocele, Neural tube defect, Occipital meningocele, Hydromyelia, Hydrocephalus, Tethered cord... |
ORPHA:268810 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Spinal dysraphism, Ventricular septal defect, Microtia, Macroglossia, Atrial septal defect, Redun... |
ORPHA:96334 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, High palate, Atrial septal defect, Double inlet left ventricle, Tetralo... |
OMIM:619869 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Short stature |
ORPHA:2031 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Myelomeningocele, Aqueductal stenosis, Hand muscle atrophy, Hydrocephalus, Upper lim... |
ORPHA:1136 |
Witteveen-Kolk Syndrome |
|
Macrotia, High palate, Sensorineural hearing impairment, Thickened helices, High, narrow palate, ... |
OMIM:613406 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Encephalocele |
ORPHA:1827 |
Orofaciodigital Syndrome Vi |
|
Hypoplastic left heart, Arrhinencephaly, Occipital meningocele, Short stature |
OMIM:277170 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Short stature, Redundant neck ... |
ORPHA:397715 |
Lathosterolosis |
|
Meningocele, Intrauterine growth retardation |
ORPHA:46059 |
Marfan Syndrome |
|
Meningocele, Mitral valve prolapse, Congestive heart failure, Skeletal muscle atrophy, Mitral val... |
ORPHA:558 |
Phocomelia, Schinzel Type |
|
Meningocele, Disproportionate short stature, Short neck, Intrauterine growth retardation |
ORPHA:2879 |
Knobloch Syndrome 1 |
|
Spina bifida occulta, Occipital encephalocele, Occipital meningocele, Patent ductus arteriosus |
OMIM:267750 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Arima Syndrome |
|
Growth delay, Occipital meningocele, Hypertension |
OMIM:243910 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele, Flexion contracture of finger |
ORPHA:1010 |
Holoprosencephaly 7 |
|
Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Ho... |
OMIM:610828 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Broad neck, Elbow flexion contracture, Disproportionate short stature, Short neck, Occipital meni... |
OMIM:276820 |
Posterior Polymorphous Corneal Dystrophy |
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ORPHA:98973 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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OMIM:122000 |