Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Cleft... |
ORPHA:2476 |
Isolated Klippel-Feil Syndrome |
|
Webbed neck, Hearing impairment, Ventricular septal defect, Low posterior hairline, Congenital mu... |
ORPHA:2345 |
Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
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 |
|
Holoprosencephaly, Cleft palate, Hydrocephalus, Spina bifida |
ORPHA:945 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
Heterotaxy, Visceral, 1, X-Linked |
|
Low-set ears, Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocar... |
OMIM:306955 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
Meckel Syndrome 14 |
|
Low-set ears, Occipital encephalocele, Increased nuchal translucency, Short neck, Single ventricl... |
OMIM:619879 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
Czeizel-Losonci Syndrome |
|
Hypoplastic helices, Thickened nuchal skin fold, Myelomeningocele, Low-set, posteriorly rotated e... |
ORPHA:2437 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal helix morphology, Atrioventricular canal defect, Abnormal aortic valve morphology, Bicus... |
ORPHA:1120 |
Schisis Association |
|
Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anencephaly, Cleft palate |
ORPHA:63862 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Anophthalmia Plus Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, Bilateral cleft palate, Sp... |
ORPHA:1104 |
Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Situs inversus totalis... |
ORPHA:1908 |
Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Intestinal duplication, Spina bifida |
ORPHA:1756 |
Diabetic Embryopathy |
|
Spinal dysraphism, Hearing impairment, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Ab... |
ORPHA:1926 |
X-Linked Mandibulofacial Dysostosis |
|
Webbed neck, Conductive hearing impairment, Low-set, posteriorly rotated ears, Branchial anomaly,... |
ORPHA:1131 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Low-set ears, Short neck, Spina bifida, Uplifted earlobe, Posteriorly rotated ears |
OMIM:620439 |
Verheij Syndrome |
|
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck, Coloboma, Cleft palate |
OMIM:615583 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... |
OMIM:616501 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Low-set, posteriorly rotated ears, Abnormality of dental eruption, Attached earlobe, Spina bifida... |
ORPHA:1327 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Spina bifida, Cleft palate |
ORPHA:957 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida |
OMIM:207950 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... |
OMIM:613854 |
Right Atrial Isomerism |
|
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... |
OMIM:208530 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Bifid uvula, Spinal dysraphism, Mitral stenosis, S... |
OMIM:617660 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Low-set ears, Tetralogy of Fallot, Truncus arteriosus, Ventricular septa... |
OMIM:601186 |
Cerebrocostomandibular Syndrome |
|
Webbed neck, Hydranencephaly, Conductive hearing impairment, Atresia of the external auditory can... |
ORPHA:1393 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m... |
OMIM:252011 |
Branchiogenic-Deafness Syndrome |
|
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Submucous cleft hard p... |
OMIM:609166 |
Mosaic Trisomy 9 |
|
Low-set ears, Webbed neck, Abnormal heart valve morphology, Intestinal malrotation, Endocardial f... |
ORPHA:99776 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hearing impairment, Umbilical hernia, Single ventricle, Abnormal cardiac septum morphology, Still... |
OMIM:308050 |
Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Low-set ears, Unbalanced atrioventricular canal defect, Mitral atresia, T... |
OMIM:620294 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Microglossia, Retinal coloboma, Hydrocephalus, Spina bifida, Iris coloboma, Abno... |
ORPHA:2839 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Increased variability in muscle fibe... |
OMIM:617228 |
Scimitar Syndrome |
|
Hypoplastic left heart, Abnormal heart morphology, Tetralogy of Fallot, Mitral atresia, Ventricul... |
ORPHA:185 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cystic hygroma, Bifid uvula, Abnormal helix morphology, Hearing impairment, Abnormal heart morpho... |
ORPHA:453499 |
Branchiogenic Deafness Syndrome |
|
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Conductive hearing imp... |
ORPHA:50815 |
Waardenburg Syndrome Type 1 |
|
Hearing impairment, Congenital sensorineural hearing impairment, Aganglionic megacolon, Spina bif... |
ORPHA:894 |
Trisomy 18 |
|
Pointed helix, Narrow palate, Webbed neck, Iris coloboma, Cyclopia, Low-set, posteriorly rotated ... |
ORPHA:3380 |
Branchiootic Syndrome 1 |
|
Low-set ears, Dilatated internal auditory canal, Branchial fistula, Cupped ear, Sensorineural hea... |
OMIM:602588 |
Limb Body Wall Complex |
|
Iris coloboma, Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, ... |
ORPHA:2369 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
Thoraco-Abdominal Enteric Duplication |
|
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Diastomatomyelia,... |
ORPHA:1759 |
Sirenomelia |
|
Tracheoesophageal fistula, Sirenomelia, Anal atresia, Spina bifida |
ORPHA:3169 |
Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... |
OMIM:270100 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida, Sensorineural hearing impairment |
ORPHA:3219 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Tracheoe... |
ORPHA:95430 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Spina bifida |
ORPHA:99742 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atresia, Anencephaly |
ORPHA:63260 |
Holoprosencephaly |
|
Spinal dysraphism, Chorioretinal coloboma, Tetralogy of Fallot, Branchial anomaly, Encephalocele,... |
ORPHA:2162 |
Iniencephaly |
|
Low-set ears, Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Hydrocephalus, S... |
ORPHA:63259 |
Holoprosencephaly 2 |
|
Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Chorioretinal coloboma, Media... |
OMIM:157170 |
Focal Dermal Hypoplasia |
|
Low-set ears, Hearing impairment, Chorioretinal coloboma, Umbilical hernia, Ventricular septal de... |
ORPHA:2092 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
Branchiootorenal Syndrome 1 |
|
Bifid uvula, Dilatated internal auditory canal, Branchial fistula, Branchial cyst, Cupped ear, Co... |
OMIM:113650 |
Neu-Laxova Syndrome 2 |
|
Low-set ears, Short neck, Spina bifida, High palate, Cleft palate |
OMIM:616038 |
Chromosome 17P13.1 Deletion Syndrome |
|
High, narrow palate, Webbed neck, Broad neck, Umbilical hernia, Short neck, Hydrocephalus, Spina ... |
OMIM:613776 |
Trisomy 20P |
|
Umbilical hernia, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Protruding ea... |
ORPHA:261318 |
Heterotaxy, Visceral, 12, Autosomal |
|
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... |
OMIM:619702 |
Bor Syndrome |
|
Atresia of the external auditory canal, Branchial cyst, Hearing impairment, Enlarged cochlear aqu... |
ORPHA:107 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Median cleft palate, Ethmocephaly, Single ventricle, Cyclopia |
OMIM:236100 |
Branchiootic Syndrome |
|
Branchial fistula, Atresia of the external auditory canal, Hearing impairment, Conductive hearing... |
ORPHA:52429 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Protruding ear, Branchial cyst, Sensorineural hearing impairment |
ORPHA:435938 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Low-set ears, Anterior encephalocele, Bilateral cleft palate, Ventricular septal defect, Coloboma... |
OMIM:601357 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Cardiac fibroma, Hydrocephalus, Spina bifida, Hamartomatous stomach polyps, ... |
OMIM:109400 |
Aortic Arch Interruption |
|
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:2299 |
Distal 22Q11.2 Microduplication Syndrome |
|
Low-set ears, Webbed neck, Abnormal helix morphology, Branchial fistula, Optic disc coloboma, Abn... |
ORPHA:261337 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Aplasia/Hypoplasia of the earlobes, Webbed neck, I... |
ORPHA:2308 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Low-set ears, Bifid uvula, Cupped ear, Atrioventricular canal defect, Patent ductus arteriosus, S... |
OMIM:619480 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hearing impairment, Retinal coloboma, Tetralogy of Fallot, Atrioventricular canal defect, Truncus... |
ORPHA:508498 |
Vacterl With Hydrocephalus |
|
Microtia, third degree, Anotia, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Spi... |
ORPHA:3412 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... |
OMIM:613426 |
Fibular Hemimelia |
|
Abnormal heart morphology, Spina bifida |
ORPHA:93323 |
Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial ... |
OMIM:611134 |
Phakomatosis Pigmentokeratotica |
|
Coloboma, Spina bifida |
ORPHA:2874 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
High, narrow palate, Bifid uvula, Cystic hygroma, Exaggerated median tongue furrow, Intestinal ps... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
High, narrow palate, Bifid uvula, Cystic hygroma, Exaggerated median tongue furrow, Intestinal ps... |
ORPHA:352665 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Camptodactyly of finger, Intrauterine growth retardation... |
ORPHA:261330 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Low-set ears, Natal tooth, Chorioretinal coloboma, Optic disc coloboma, Spin... |
OMIM:234100 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... |
OMIM:619167 |
Triploidy |
|
Intestinal malrotation, Low-set, posteriorly rotated ears, Short neck, Hydrocephalus, Abnormal ca... |
ORPHA:3376 |
Neu-Laxova Syndrome 1 |
|
Low-set ears, Broad neck, Hydranencephaly, Macrotia, Small placenta, Short umbilical cord, Patent... |
OMIM:256520 |
Lumbar Syndrome |
|
Myelomeningocele, Ectopic anus, Anal atresia, Spina bifida |
ORPHA:83628 |
Oligomeganephronia |
|
Optic disc coloboma, Secundum atrial septal defect, Branchial cyst, Hearing impairment |
ORPHA:2260 |
Pagod Syndrome |
|
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Spina bifida, Meningocele |
ORPHA:991 |
Fanconi Anemia |
|
Meckel diverticulum, Hearing impairment, Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy... |
ORPHA:84 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus... |
OMIM:192350 |
Nail-Patella Syndrome |
|
Spina bifida, Cleft palate, Sensorineural hearing impairment |
OMIM:161200 |
22Q11.2 Deletion Syndrome |
|
Low-set ears, Hearing impairment, Ventricular septal defect, Short neck, Atrial septal defect, An... |
ORPHA:567 |
Cloacal Exstrophy |
|
Intestinal duplication, Myelomeningocele, Intestinal malrotation, Spina bifida, Anal atresia |
ORPHA:93929 |
Neu-Laxova Syndrome |
|
Bifid uvula, Macrotia, Submucous cleft hard palate, Spina bifida, Cleft palate |
ORPHA:2671 |
Treacher-Collins Syndrome |
|
Branchial fistula, Conductive hearing impairment, Narrow internal auditory canal, Encephalocele, ... |
ORPHA:861 |
Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defec... |
OMIM:274000 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Dural ectasia, Hearing impairment, Cardiomyopathy, Macrotia, Abnormal heart morphology, Recurrent... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Dural ectasia, Hearing impairment, Cardiomyopathy, Macrotia, Abnormal heart morphology, Recurrent... |
ORPHA:363958 |
Wildervanck Syndrome |
|
Webbed neck, Low posterior hairline, Short neck, Meningocele, Facial palsy |
ORPHA:3456 |
Rubinstein-Taybi Syndrome 1 |
|
Hypoplastic left heart, High, narrow palate, Narrow palate, Low-set ears, Hearing impairment, Mit... |
OMIM:180849 |
Campomelic Dysplasia |
|
Low-set ears, Spinal dysraphism, Conductive hearing impairment, Hearing impairment, Abnormal hear... |
OMIM:114290 |
Joubert Syndrome 14 |
|
Growth delay, Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial ... |
OMIM:614424 |
Alg3-Cdg |
|
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Neural tube defect |
ORPHA:79321 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragma... |
ORPHA:2311 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Congenital sensorineural hearing impairment, Spina bifida |
OMIM:193500 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Low-set ears, Neonatal death, Abnormal pinna morphology, Spina bifida, High palate, Right ventric... |
OMIM:614437 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Webbed neck, Spinal dysraphism, Tethered cord |
OMIM:612918 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Low-set ears, Bifid uvula, Iris coloboma, Natal tooth, Branchial cyst, Atresia of the external au... |
OMIM:620186 |
Cartilage-Hair Hypoplasia |
|
Spinal dysraphism, Cardiomyopathy, Low-set, posteriorly rotated ears, Aganglionic megacolon, Shor... |
ORPHA:175 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism |
OMIM:603546 |
Ulnar Hemimelia |
|
Spinal dysraphism |
ORPHA:93320 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Short ... |
OMIM:130720 |
Femoral-Facial Syndrome |
|
Low-set ears, Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifida, Cleft p... |
OMIM:134780 |
Aicardi Syndrome |
|
Hiatus hernia, Optic disc coloboma, Spina bifida, Cleft palate |
OMIM:304050 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele |
ORPHA:101030 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Prominent antihelix, Posteriorly rotated ears, Branchial anomaly, Hearing impairment |
ORPHA:466950 |
Sacral Defect With Anterior Meningocele |
|
Dermal sinus tract, Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, M... |
OMIM:600145 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus, Myopathy |
ORPHA:588 |
Exstrophy-Epispadias Complex |
|
Anal stenosis, Abnormal heart morphology, Hydrocephalus, Spina bifida, Anal atresia |
ORPHA:322 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Branchial cyst, Abnormal he... |
ORPHA:508488 |
Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Meningocele, Ventricular septal defect |
OMIM:620511 |
Otopalatodigital Syndrome, Type Ii |
|
Low-set ears, Conductive hearing impairment, Stillbirth, Umbilical hernia, Short neck, Atrial sep... |
OMIM:304120 |
Cardiac Valvular Dysplasia 1 |
|
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... |
OMIM:212093 |
Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Encephalocele, Cystic hygroma, Meningocele, Anencephaly |
OMIM:603194 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Broad neck, Myelomeningocele, Situs inversus totalis, Short neck, Hydrocephalus, Dextrocardia, Sh... |
OMIM:613686 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Right ventricular ... |
OMIM:300967 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Ventricular septal defect, Low posterior hairline, Short neck, Meningocele |
ORPHA:2789 |
Craniofacial Microsomia 1 |
|
Duplicated tragus, Occipital encephalocele, Atresia of the external auditory canal, Conductive he... |
OMIM:164210 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage |
ORPHA:2481 |
Branchiooculofacial Syndrome |
|
Low-set ears, Iris coloboma, Conductive hearing impairment, Hearing impairment, Fusion of middle ... |
OMIM:113620 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Isolated Posterior Meningocele |
|
Hydromyelia, Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipit... |
ORPHA:268810 |
Neurocardiofaciodigital Syndrome |
|
Hearing impairment, Tetralogy of Fallot, Atrial septal defect, High palate, Double inlet left ven... |
OMIM:619869 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Spinal dysraphism, Hypertrophic cardiomyopathy, Large placenta, Redundant neck skin, Ventricular ... |
ORPHA:96334 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short stature, Meningocele |
ORPHA:2031 |
Witteveen-Kolk Syndrome |
|
High, narrow palate, Branchial fistula, Hearing impairment, Cupped ear, Glue ear, Sensorineural h... |
OMIM:613406 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Congenital diaphragmatic hernia, Short neck, Hydrocephalus, Atrial septal ... |
OMIM:616546 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Encephalocele |
ORPHA:1827 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Orofaciodigital Syndrome Vi |
|
Short stature, Hypoplastic left heart, Occipital meningocele |
OMIM:277170 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Redundant neck ski... |
ORPHA:397715 |
Marfan Syndrome |
|
Aortic regurgitation, Skeletal muscle atrophy, Abnormal left ventricular function, Congestive hea... |
ORPHA:558 |
Lathosterolosis |
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Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
Semilobar Holoprosencephaly |
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Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Short stature, Flexion... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Short stature, Flexion... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Short stature, Flexion... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Short stature, Flexion... |
ORPHA:93924 |
Phocomelia, Schinzel Type |
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Intrauterine growth retardation, Meningocele, Disproportionate short stature, Short neck |
ORPHA:2879 |
Knobloch Syndrome 1 |
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Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele |
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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Hypertension, Occipital meningocele, Growth delay |
OMIM:243910 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... |
OMIM:610828 |
Aprosencephaly And Cerebellar Dysgenesis |
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Bifid uvula, Aprosencephaly |
OMIM:601374 |
Holoprosencephaly 9 |
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Alobar holoprosencephaly, Short neck, Hydrocephalus, Short stature, Holoprosencephaly, Occipital ... |
OMIM:610829 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Broad neck, Disproportionate short stature, Elbow flexion contracture, 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 |