Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi... |
ORPHA:2476 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Epicanthus, Ventricular septal defect, Microcephaly, Situs inversus totalis, Hydro... |
ORPHA:1908 |
Meckel Syndrome, Type 4 |
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Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha... |
OMIM:611134 |
Acalvaria |
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Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of ... |
ORPHA:945 |
Meckel Syndrome, Type 10 |
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Dilated fourth ventricle, Occipital encephalocele, Epicanthus, Anencephaly, Cleft palate, Narrow ... |
OMIM:614175 |
Diprosopus |
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Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate |
ORPHA:1681 |
Omphalocele-Cleft Palate Syndrome, Lethal |
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Omphalocele, Death in infancy, Hydrocephalus, Cleft palate, Bifid uvula |
OMIM:258320 |
Hydrolethalus Syndrome 2 |
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Hydrocephalus, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of corpus callosum, V... |
OMIM:614120 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... |
OMIM:617967 |
Anencephaly 2 |
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Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate, Short palpebr... |
OMIM:619452 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Ventricular septal defect, Microcephaly, Cleft palate, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
Schisis Association |
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Encephalocele, Omphalocele, Spina bifida, Microcephaly, Congenital diaphragmatic hernia, Anenceph... |
ORPHA:63862 |
Diabetic Embryopathy |
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Ventricular septal defect, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:1926 |
Thoracoabdominal Syndrome |
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Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... |
OMIM:313850 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Ventriculomegaly, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Joint c... |
OMIM:225790 |
Pentalogy Of Cantrell |
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Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita... |
ORPHA:1335 |
Tricuspid Atresia |
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Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... |
ORPHA:1209 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Omphalocele, Bilateral cleft palate, Ventricular septal defect, Absent septum pellucidum, Bilater... |
OMIM:601357 |
Meckel Syndrome, Type 2 |
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Encephalocele, Omphalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Dandy... |
OMIM:603194 |
Neural Tube Defects, Susceptibility To |
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Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta |
OMIM:182940 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Hydranencephaly, Multiple joint contractures, Aplasia/Hypoplasia of the cerebellum, Camptodactyly... |
ORPHA:2570 |
Distal Deletion 13Q |
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Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Abnormal car... |
ORPHA:1590 |
Genitopalatocardiac Syndrome |
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Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... |
OMIM:231060 |
Microhydranencephaly |
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Multiple joint contractures, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... |
OMIM:605013 |
Fetal Trimethadione Syndrome |
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Epicanthus, Ventricular septal defect, Microcephaly, Synophrys, High palate, Transposition of the... |
ORPHA:1913 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Cerebellar vermis hypoplasia, Hamartoma of tongue, Accessory oral frenulum, Congenital diaphragma... |
OMIM:616546 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Narrow palpebral fissure, Hypoplasia of the brainstem, Stillbirth, Cerebellar hypoplasia, Neonata... |
OMIM:236500 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Irregular dentition, Tented upper lip vermilion, Anteriorly placed anus, High palate, Short philt... |
OMIM:619148 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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Thin upper lip vermilion, Dental crowding, Synophrys, Pierre-Robin sequence, Anterior open-bite m... |
OMIM:617877 |
Hydrolethalus |
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Absent septum pellucidum, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, ... |
ORPHA:2189 |
Ritscher-Schinzel Syndrome 1 |
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Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate, Coloboma, ... |
OMIM:220210 |
Trisomy 18 |
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Congenital diaphragmatic hernia, Holoprosencephaly, Hernia, Atrial septal defect, Iris coloboma, ... |
ORPHA:3380 |
Congenital Herpes Simplex Virus Infection |
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Hydranencephaly, Microcephaly |
ORPHA:293 |
Pseudotrisomy 13 Syndrome |
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Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Microcephaly, Cleft upper li... |
OMIM:264480 |
Isolated Dandy-Walker Malformation |
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Encephalocele, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Dand... |
ORPHA:217 |
Triploidy |
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Omphalocele, Intestinal malrotation, Hydrocephalus, Meningocele, Non-midline cleft lip, Cleft pal... |
ORPHA:3376 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ... |
OMIM:253800 |
Short-Rib Thoracic Dysplasia 12 |
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Omphalocele, Natal tooth, Epicanthus, Median cleft lip, Ventricular septal defect, Intestinal mal... |
OMIM:269860 |
22Q11.2 Duplication Syndrome |
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Epicanthus, Ventricular septal defect, Microcephaly, Cleft palate, Hypoplastic left heart, Transp... |
ORPHA:1727 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Omphalocele, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Highly ... |
OMIM:618316 |
Iniencephaly |
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Encephalocele, Omphalocele, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, Hydr... |
ORPHA:63259 |
Weiss-Kruszka Syndrome |
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Epicanthus, Ventriculomegaly, Bicuspid aortic valve, Ventricular septal defect, Highly arched eye... |
OMIM:618619 |
Trisomy 1Q |
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Omphalocele, Ventriculomegaly, Ventricular septal defect, Camptodactyly of finger, Congenital dia... |
ORPHA:261344 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:860 |
Carpenter Syndrome 1 |
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Omphalocele, Epicanthus, Telecanthus, Ventricular septal defect, Persistence of primary teeth, Pa... |
OMIM:201000 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Meckel Syndrome, Type 1 |
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Occipital encephalocele, Lobulated tongue, Molar tooth sign on MRI, Agenesis of corpus callosum, ... |
OMIM:249000 |
Neu-Laxova Syndrome 1 |
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Swollen lip, Neonatal death, Pterygium, Agenesis of corpus callosum, Patent foramen ovale, Dandy-... |
OMIM:256520 |
Thakker-Donnai Syndrome |
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Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoe... |
ORPHA:1780 |
Recombinant Chromosome 8 Syndrome |
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Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Patent ductus ... |
OMIM:179613 |
Meckel Syndrome, Type 5 |
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Occipital encephalocele, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:611561 |
Cerebrocostomandibular Syndrome |
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Death in infancy, Cerebral calcification, Ventricular septal defect, Spina bifida, Microcephaly, ... |
ORPHA:1393 |
Limb Body Wall Complex |
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Encephalocele, Thoracoabdominal wall defect, Ventral hernia, Ventricular septal defect, Diastasis... |
ORPHA:2369 |
Fallot Complex With Severe Mental And Growth Retardation |
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Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
16P13.11 Microduplication Syndrome |
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Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
3Mc Syndrome 1 |
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Conjunctival telangiectasia, Atrial septal defect, Telecanthus, Omphalocele, Ventricular septal d... |
OMIM:257920 |
Craniorachischisis |
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Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Transposition of the ... |
OMIM:314390 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Unilateral ptosis, Thin upper lip vermilion, Overriding aorta, Cyanosis, Microcephaly, Patent duc... |
ORPHA:3304 |
Donnai-Barrow Syndrome |
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Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
ORPHA:2143 |
Isolated Anencephaly/Exencephaly |
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Anencephaly |
ORPHA:1048 |
8P23.1 Microdeletion Syndrome |
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Epicanthus, Congenital diaphragmatic hernia, Microcephaly, Patent ductus arteriosus, Pulmonary ar... |
ORPHA:251071 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventriculomegaly, Median cleft lip, Ventricular septal defect, Absent septum ... |
OMIM:619895 |
Distal Duplication 15Q |
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Omphalocele, Camptodactyly of finger, Microcephaly, Downturned corners of mouth, High palate, Lon... |
ORPHA:1707 |
Vacterl/Vater Association |
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Omphalocele, Occipital encephalocele, Congenital diaphragmatic hernia, Non-midline cleft lip, Ane... |
ORPHA:887 |
Fetal Valproate Spectrum Disorder |
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Omphalocele, Epicanthus, Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long p... |
ORPHA:1906 |
Miller-Dieker Syndrome |
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Omphalocele, Epicanthus, Abnormal upper lip morphology, Lissencephaly, Hypoplasia of the corpus c... |
ORPHA:531 |
Ververi-Brady Syndrome |
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Thin upper lip vermilion, Microcephaly, Upslanted palpebral fissure, Wide mouth, High palate, Tra... |
OMIM:617982 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
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Omphalocele, Thin upper lip vermilion, Epicanthus, Overriding aorta, Telecanthus, Ventricular sep... |
OMIM:601927 |
Trigonocephaly 1 |
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Omphalocele, Epicanthus, Microcephaly, High, narrow palate, Synophrys, Upslanted palpebral fissur... |
OMIM:190440 |
Congenital Heart Defects, Multiple Types, 6 |
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Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Short philtrum, Patent foramen ova... |
OMIM:618454 |
Opitz Gbbb Syndrome |
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Congenital diaphragmatic hernia, High palate, Atrial septal defect, Agenesis of corpus callosum, ... |
ORPHA:2745 |
Heterotaxy, Visceral, 7, Autosomal |
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Cyanosis, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common at... |
OMIM:616749 |
Pelvis-Shoulder Dysplasia |
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Camptodactyly of finger, Spina bifida, Hydrocephalus, Cleft palate, Retinal coloboma, Thick anter... |
ORPHA:2839 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
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Upslanted palpebral fissure, Coloboma, Macroglossia, Wide mouth, Everted lower lip vermilion, Tra... |
OMIM:616789 |
Right Atrial Isomerism |
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Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... |
OMIM:208530 |
Primary Ciliary Dyskinesia |
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Ventriculomegaly, Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Si... |
ORPHA:244 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Intestinal malrotation, Microcephaly, Hydrocephalus, Cleft palate, Ap... |
ORPHA:2166 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect... |
OMIM:608978 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Encephalocele, Natal tooth, Omphalocele, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Patent d... |
OMIM:616300 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft palate, Op... |
OMIM:147800 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Synophrys, Deep philtrum, Holoprosencephaly, Chorioretinal colob... |
ORPHA:2162 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Reduced cerebral white matter volume, Short philtrum, Widely spaced teeth, Chorioretinal coloboma... |
OMIM:280000 |
14Q11.2 Microdeletion Syndrome |
|
Epicanthus, Ventricular septal defect, Exaggerated cupid's bow, Highly arched eyebrow, Patent duc... |
ORPHA:261120 |
Double Outlet Right Ventricle |
|
Cyanosis, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double ... |
ORPHA:3426 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Lambert Syndrome |
|
Inguinal hernia, Ventricular septal defect, Jaundice, Wide mouth, Branchial anomaly, Aplasia/Hypo... |
ORPHA:1296 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Epicanthus, Ventricular septal defect, Microcephaly, Thick lower lip ver... |
OMIM:612946 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Aloba... |
OMIM:301043 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Epicanthus, Ventriculomegaly, Ventricular septal defect, Cutis marmorata, Megalencephaly, Hydroce... |
OMIM:602501 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Thin upper lip vermilion, Epicanthus, Inguinal hernia, Ventricular septal defect, Hi... |
OMIM:158170 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Synophrys, Partial agenesis of the corpus callosum, Hypoplasia of the b... |
OMIM:610828 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
Caudal Duplication |
|
Omphalocele, Myelomeningocele, Intestinal duplication, Spina bifida |
ORPHA:1756 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Bicuspid aorti... |
OMIM:617751 |
Perching Syndrome |
|
Joint contracture, Cyanosis, High palate, Camptodactyly |
OMIM:617055 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cutis marmorata, Protruding tongue, Patent ductus arteriosus, Hydrocep... |
OMIM:612938 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Coloboma, Exencephaly |
OMIM:614464 |
Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Hig... |
ORPHA:2059 |
Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of c... |
OMIM:614424 |
Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation... |
OMIM:207950 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Mosaic Trisomy 1 |
|
Omphalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finger, Co... |
ORPHA:1692 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Median cleft lip, Ventricular septal defect, Absent septum pellucidum, Abnormal cort... |
OMIM:236680 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Omphalocele, Abnormal heart valve morphology, Camptodactyly of finger, Myelomening... |
ORPHA:90652 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Ventricular septal defect, Downturned corners of mouth, Short philtrum, Agenesis of ... |
ORPHA:93267 |
Catel-Manzke Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow, Clef... |
ORPHA:1388 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Thin upper lip vermilion, Omphalocele, Highly arched eyebrow, Sparse eyebrow,... |
OMIM:619124 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Telecanthus, Ventricular septal defect, Megalencephaly, Hydrocephalus, Abnormal cardiac septum mo... |
ORPHA:83473 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:612284 |
Fetal Encasement Syndrome |
|
Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:613630 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Pericallosal lipoma, Ventricular septal defect, Microcephaly, Cleft lip, Upper eye... |
ORPHA:398156 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Microcephaly |
OMIM:302000 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Natal tooth, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, H... |
OMIM:145420 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... |
OMIM:618845 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Epicanthus, Inguinal hernia, Cleft soft palate, Secundum atrial septal ... |
OMIM:620183 |
Amish Lethal Microcephaly |
|
Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Microcephaly, Li... |
ORPHA:99742 |
Constricting Bands, Congenital |
|
Encephalocele, Omphalocele, Cleft upper lip, Cleft palate, Eyelid coloboma, Gastroschisis, Ectopi... |
OMIM:217100 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale, Hypoplastic tricuspi... |
OMIM:600001 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Umbil... |
OMIM:615297 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hooded eyelid, High, narrow palate, Right ventricular dilatation, Anteriorly placed anus, High pa... |
OMIM:612863 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Narrow palpebral fissure... |
OMIM:260660 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Chorioretinal coloboma, Hernia, Iris coloboma, Abnormal dental m... |
ORPHA:2092 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Macroglossia, Umbilical hernia, Omphalocele |
OMIM:275100 |
Coffin-Siris Syndrome 3 |
|
Thick eyebrow, Inguinal hernia, Microcephaly, Central diaphragmatic hernia, Cleft palate, Abnorma... |
OMIM:614608 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Synophrys, Downturned corners of mouth, Coloboma, Atrial septal defect, Ca... |
ORPHA:329224 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Patent... |
OMIM:619657 |
Chime Syndrome |
|
Epicanthus, Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, ... |
ORPHA:3474 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cerebellar vermis hypoplasia, Cyanotic episode, Secondary microcephaly |
OMIM:610992 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Neonatal death, Atrial septal defect, Atrioventric... |
OMIM:265380 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventriculomegaly, Bicuspid aortic valve, Abnormal size of the palpebral fissures, Highly arched e... |
ORPHA:500159 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic a... |
ORPHA:99050 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Partial agenesis of the corpus callosum, High palate, Atrial septal defect, Spin... |
OMIM:300373 |
Kagami-Ogata Syndrome |
|
Omphalocele, Atrial septal defect, Inguinal hernia, Ventricular septal defect, Diastasis recti, P... |
OMIM:608149 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Cleft palate, ... |
OMIM:614815 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Ventriculomegaly, Cutis marmorata, Intestinal malrotat... |
OMIM:614701 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery at... |
OMIM:616894 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Cerebral calcification, Intestinal malrotation, Aqueductal stenosis, Upslanted palpe... |
ORPHA:3035 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morpholog... |
ORPHA:254534 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Ventriculomegaly, Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, M... |
OMIM:301056 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Microcephaly, Flexion cont... |
OMIM:263210 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Lateral ventricle dilatation, Ventricular septal defect, Dextrotransposition of the ... |
OMIM:619995 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele, Synophrys |
ORPHA:3366 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... |
ORPHA:1461 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Thin upper lip vermilion, Ingui... |
OMIM:247200 |
Alg3-Cdg |
|
Cerebral white matter atrophy, Lipodystrophy, Microcephaly, Hypoplasia of the pons, Coarctation o... |
ORPHA:79321 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Epicanthus, Median cleft lip, Frontal cutaneous lipoma, Anterior basal encep... |
OMIM:136760 |
3C Syndrome |
|
High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Chorioretinal coloboma... |
ORPHA:7 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Bicuspid aortic valve, Cleft soft palate, Abnormality of the dentiti... |
OMIM:618529 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Epicanthus, Everted upper lip vermilion, Ventricular septal defect, Optic n... |
OMIM:615879 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Upslanted... |
OMIM:616652 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Cleft palate, Narrow mouth |
ORPHA:2901 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Deep ... |
OMIM:619717 |
Marshall-Smith Syndrome |
|
Irregular dentition, Synophrys, Anteriorly placed anus, Glossoptosis, High palate, Short philtrum... |
OMIM:602535 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu... |
OMIM:614249 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Microcephaly, Hydrocephalus, Patent ductus arteriosus, Cerebral atrophy, Atrial septa... |
OMIM:614886 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Epicanthus, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Cerebral atr... |
OMIM:618164 |
Meckel Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the tongue, Microcephaly, Situs inversus totalis, Hydrocepha... |
ORPHA:564 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
OMIM:222448 |
Maternal Phenylketonuria |
|
Epicanthus, Ventricular septal defect, Microcephaly, Bilateral ptosis, Esophageal atresia, Abnorm... |
ORPHA:2209 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral... |
OMIM:618974 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
C Syndrome |
|
Omphalocele, Epicanthus, Ventricular septal defect, Accessory oral frenulum, Microcephaly, Patent... |
OMIM:211750 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Jaundice, Ventricular septal defect, Death in infancy |
OMIM:614876 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Microcephaly... |
ORPHA:2919 |
Emanuel Syndrome |
|
Multiple joint contractures, Hooded eyelid, Dental crowding, Congenital diaphragmatic hernia, Hig... |
ORPHA:96170 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Cerebellar atrophy, Epicanthus, Ventricular septal defect, Exaggerated cupid's bow, Microcephaly,... |
OMIM:618506 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Cyanosis, Microcephaly, Temporal cortical atrophy, Lip discoloration, Frontal... |
ORPHA:621 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss... |
OMIM:617022 |
Heterotaxy, Visceral, 5, Autosomal |
|
Cerebellar atrophy, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal m... |
OMIM:270100 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Hydrocephalus, Tracheoesophageal fistula, Gingival ... |
ORPHA:1834 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Thin upper lip vermilion, Epicanthus, Microcephaly, Patent ductus arteriosus, Upslan... |
OMIM:609625 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Anal atresia, Telecanthus, Epicanthus, Ventricular septal defect, Dandy-Walker malformation, Tent... |
OMIM:612582 |
Nemaline Myopathy 9 |
|
High palate, Arthrogryposis multiplex congenita, Ventricular septal defect, Cleft palate |
OMIM:615731 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Orofacia... |
ORPHA:1519 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Agenesis of cerebellar vermis, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia,... |
OMIM:601322 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Congenital diaph... |
OMIM:612530 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventriculomegaly, Bicuspid aortic valve, Ventricular septal defect, Celi... |
ORPHA:284169 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Omphalocele |
OMIM:614450 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Microcephaly, Situs inversus totalis, Atrioventricular cana... |
OMIM:605376 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Microcephaly, High, narrow palate, Dilated cardiomyopathy, Ventriculom... |
ORPHA:2515 |
Emanuel Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, High palate, Atrial septal defect, Joint contra... |
OMIM:609029 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventricle, Patent ductus arteri... |
ORPHA:185 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Epicanthus, Patent ductus arteriosus, Anomalous pulmonary venous ret... |
ORPHA:2184 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Spina bifida, Mitral valve prolapse, Long philtrum, Joint contracture of the han... |
OMIM:211960 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Abn... |
ORPHA:371428 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Lateral Meningocele Syndrome |
|
Telecanthus, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Dental crowding, ... |
OMIM:130720 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Cerebell... |
OMIM:616276 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Pat... |
ORPHA:477817 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Epicanthus, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Large placent... |
ORPHA:254528 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hypoplasia of the pons, Diffuse white matter abnormalities, Coloboma, Hy... |
ORPHA:370959 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus, Chiari type... |
OMIM:218350 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Cleft palate, Tooth age... |
ORPHA:1166 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Highly arched eyebrow, Cleft lip, Cleft pa... |
OMIM:616898 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Limb joint contracture, Ankle flexion contracture, Simplified gyral... |
ORPHA:284417 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Ventricular septal defect, Microcephaly, Velopharyngeal insufficiency, Submucous... |
OMIM:192430 |
Tetrasomy 5P |
|
Pericallosal lipoma, Epicanthus, Cyanosis, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wal... |
ORPHA:3309 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Megalencephaly, Hydrocephalus, Thick corpus call... |
OMIM:603387 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Oligodontia, Fused teeth, Laterally curved eyebrow, Atrial septal defect, Co... |
OMIM:300166 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Congenital diaph... |
ORPHA:2255 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Long eyebrows, Microcephaly, Thick lower lip vermilion, Simplified gyral pattern, Abnormal cerebr... |
OMIM:614407 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Peripheral pulmonary artery stenosis, Ventricular septal defect, Cortical d... |
OMIM:613001 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Epicanthus, Jejunal atresia, Absent septum pellucidum, Ileal atresia, Dysplastic cor... |
OMIM:618820 |
Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Ventricular septal defect, Cardiomegaly, Abnormal cerebellum morphology, Patent ductu... |
OMIM:618652 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Ventricular septal defect, Microcephaly, Almond-shaped palpebral fissure, Epi... |
OMIM:619103 |
Fryns Syndrome |
|
Tented upper lip vermilion, Atrial septal defect, Agenesis of corpus callosum, Dandy-Walker malfo... |
OMIM:229850 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Synophrys, High palate, Widely spaced teeth, Microdontia, Atrial septal de... |
OMIM:612474 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... |
OMIM:615524 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Omphalocele, Spina bifida, Microcephaly, Situs inversus totalis,... |
ORPHA:991 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Ascending aorta hypoplasia, Synophrys, Deep philtrum, Flexion contracture, Facia... |
OMIM:619503 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, High palate, Atrial septal defect, Patent foramen ovale, Bifid uvula,... |
OMIM:615582 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Epicanthus, Inguinal hernia, Ventricular septal defect, Broad secondary alveolar ridge, High pala... |
ORPHA:3369 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Cerebral... |
OMIM:613759 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Ventricular septal defect, Secondary microcephaly, Cerebellar hypoplasia, Neona... |
OMIM:613730 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... |
OMIM:617616 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent... |
ORPHA:2712 |
Suleiman-El-Hattab Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Inguinal hernia, Ventricular septal defect... |
OMIM:618950 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Epicanthus, Ventriculomegaly, Ventricular septal defect, Microcephaly, ... |
OMIM:220500 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Tongue fasciculations, Death in childhood |
OMIM:253300 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Overriding aorta, Median cleft lip, Microcephaly, Orofacial cleft, Holoprosencephaly... |
ORPHA:3186 |
Aortic Arch Interruption |
|
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv... |
ORPHA:2299 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Death in infancy, Intestinal obstruction, Ventricular septal defect, Intestinal malr... |
OMIM:243150 |
Restrictive Dermopathy |
|
Multiple joint contractures, Atrial septal defect, Sparse eyebrow, Patent ductus arteriosus, Spar... |
ORPHA:1662 |
Houge-Janssens Syndrome 3 |
|
Epicanthus, Inguinal hernia, Microcephaly, Muscular ventricular septal defect, Hypoplasia of the ... |
OMIM:618354 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short lingual frenulum, Downturned corners of mouth, Short philtrum, Atrial septal defect, Microd... |
OMIM:617360 |
Neu-Laxova Syndrome |
|
Cerebral calcification, Abnormal eyelid morphology, Flexion contracture, Pterygium, Pachygyria, B... |
ORPHA:2671 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Atrial septal defect, Agenesis of ... |
OMIM:312870 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Telecanthus, Tented upper lip vermilion, Camptodactyly of finger, Microceph... |
ORPHA:896 |
Li-Campeau Syndrome |
|
Telecanthus, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Long phil... |
OMIM:619189 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Microcephaly, Abnormal cardiac ventricle morphology, Pate... |
ORPHA:2306 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Epicanthus, Cerebellar vermis hypoplasia, Inguinal hernia, Sparse eyebrow, Hydrocephalus, Cleft p... |
ORPHA:459061 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Patent ductus arterios... |
OMIM:618330 |
Primary Pulmonary Hypoplasia |
|
Epicanthus, Cyanosis, Dextrocardia, Microcephaly, Secundum atrial septal defect, Cleft palate, Hy... |
ORPHA:2257 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Death in infancy, Epicanthus, Ventricular septal defect, Abnormal cortical gy... |
OMIM:614576 |
Lateral Meningocele Syndrome |
|
Epicanthus, Inguinal hernia, Ventricular septal defect, Dental crowding, High, narrow palate, Men... |
ORPHA:2789 |
Pai Syndrome |
|
Encephalocele, Telecanthus, Median cleft lip, Midline central nervous system lipomas, Cleft palat... |
ORPHA:1993 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Thick vermilion border, Pulmonic stenosis, Long... |
ORPHA:251076 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Ventricular septal defect, Microcephaly, Partial agenesis of the corp... |
OMIM:617478 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Sparse eyelashe... |
OMIM:616901 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Cleft upper lip, Lower eyelid c... |
OMIM:608572 |
Blepharocheilodontic Syndrome 1 |
|
Lagophthalmos, Conical tooth, Cleft upper lip, Ectropion of lower eyelids, Neural tube defect, Eu... |
OMIM:119580 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Flexion contracture, Ankyloblepharon, Pterygium, Patent foramen ovale,... |
OMIM:263650 |
Alg9-Cdg |
|
Smooth philtrum, Thin upper lip vermilion, Telecanthus, Villous atrophy, Ventricular septal defec... |
ORPHA:79328 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short lingual frenulum, Anomalous origin of left coronary artery from the pulmonary art... |
ORPHA:2326 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypointensity of cerebral white matter on MRI, Ventricular septal defect, Hypoplasia of the pons,... |
ORPHA:163956 |
Chromosome 18Q Deletion Syndrome |
|
Downturned corners of mouth, Short philtrum, Atrial septal defect, Bifid uvula, Dysplastic aortic... |
OMIM:601808 |
Desmosterolosis |
|
Epicanthus, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Intestinal malrot... |
ORPHA:35107 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Polymicrogy... |
ORPHA:899 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Anteriorly placed anus, Chiari malformation, Tetralogy of Fallot, Vent... |
OMIM:618624 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Death in infancy, Epicanthus, Inguinal hernia, Ventricular septal defect, Camptodact... |
ORPHA:373 |
Fibrochondrogenesis 1 |
|
Omphalocele, Narrow mouth, Cleft palate, Stillbirth, Long philtrum, Joint contracture of the hand... |
OMIM:228520 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Highly arched eyebrow, ... |
ORPHA:228399 |
Carpenter Syndrome 2 |
|
Epicanthus, Dextrocardia, Highly arched eyebrow, Sparse eyebrow, Situs inversus totalis, Patent d... |
OMIM:614976 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Epicanthus, Inguinal hernia, Ventricular septal defect, High palate, Broad alveolar ridges |
OMIM:314320 |
Codas Syndrome |
|
Delayed eruption of teeth, Omphalocele, Ventriculomegaly, Ventricular septal defect, Rectovaginal... |
OMIM:600373 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Mmep Syndrome |
|
Median cleft lip, Ventricular septal defect, Orofacial cleft, Microcephaly |
ORPHA:3434 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Hi... |
OMIM:618494 |
Esophageal Atresia |
|
Omphalocele, Cyanosis, Ventricular septal defect, Barrett esophagus, Intestinal malrotation, Pylo... |
ORPHA:1199 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia |
ORPHA:2345 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Thick cerebral cortex, Ventricular septal defect, Microcephaly, Abnorma... |
ORPHA:261183 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Absent eyebrow, Death in infancy, Inguinal hernia, Perianal erythema, Aganglionic me... |
OMIM:308205 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Ventricular septal defect, Long philtrum |
OMIM:617895 |
Ring Chromosome 13 Syndrome |
|
Epicanthus, Microcephaly, Anencephaly, High palate, Short philtrum, Agenesis of corpus callosum, ... |
ORPHA:96176 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Highly arched eyebrow, Microcephaly, Patent d... |
OMIM:618142 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Microcephaly, High, narrow palate, Cleft palate, Abnormal aortic morph... |
ORPHA:2516 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Highly arched eyebrow, Cleft palate, Downturned corners of mouth, Ecto... |
ORPHA:94066 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Ventriculomegaly, Ventricular septal defect, Patent ductus arteriosus, Coarctation of... |
OMIM:617159 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect, Microcephaly |
ORPHA:391646 |
Boomerang Dysplasia |
|
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:1263 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Microcephaly, Submucous cleft hard palate, Spinal dysraphism, Hypoplastic left heart, Aortic valv... |
OMIM:617660 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Exencephaly, Macrogyria, Eyelid coloboma, Lissencephal... |
ORPHA:2211 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Femoral hernia, Absent septum pellucidum, Highly arched eyebrow, Microcephaly, P... |
ORPHA:96147 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Progressive microcephaly |
ORPHA:71277 |
Pontocerebellar Hypoplasia, Type 17 |
|
Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Secundum atrial septal defec... |
OMIM:619909 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Laterally extended eyebrow, Tented upper lip vermilion, Ventricular sep... |
OMIM:600987 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Epicanthus, Ventricular septal defect, Microcephaly, Synophrys, High palate, Short philtrum, Hern... |
ORPHA:3306 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Hypoplasia of ... |
OMIM:618325 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pulmonic stenos... |
OMIM:249670 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Exaggerated cupid's bow, C... |
ORPHA:261236 |
Lambotte Syndrome |
|
Telecanthus, Ventricular septal defect, Microcephaly, Narrow mouth, Semilobar holoprosencephaly |
OMIM:245552 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Epicanthus, Highly arched eyebrow, Microcephaly, Synophrys, Submucous cleft hard palate, Supernum... |
OMIM:617412 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Tented upper lip vermilion, Ventricular septal defect, Inguinal hernia, Microcephaly,... |
OMIM:616449 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia |
OMIM:601163 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Colpocephaly, Perimembrano... |
OMIM:618651 |
Braddock-Carey Syndrome 1 |
|
Telecanthus, Aortic valve prolapse, Ventricular septal defect, Microcephaly, Pierre-Robin sequenc... |
OMIM:619980 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosu... |
ORPHA:79243 |
Aicardi-Goutieres Syndrome 1 |
|
Intracerebral periventricular calcifications, Cerebellar calcifications, Microcephaly, Basal gang... |
OMIM:225750 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Synophrys, Abnormal ... |
ORPHA:401935 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Ventricular septal defect, Abnormal heart morphology, Upslanted palpebral fissure, Ma... |
ORPHA:369891 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
Cat Eye Syndrome |
|
Chorioretinal coloboma, Atrial septal defect, Iris coloboma, Patent ductus arteriosus, Total anom... |
OMIM:115470 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Microcephaly, Hydrocephalus, Cystocele... |
ORPHA:322 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia |
ORPHA:95706 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Micr... |
OMIM:615583 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydroc... |
OMIM:300514 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular septal defect, Dextrocardia, ... |
OMIM:618067 |
Cloacal Exstrophy |
|
Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Blad... |
ORPHA:93929 |
Phaver Syndrome |
|
Epicanthus, Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aor... |
ORPHA:2876 |
Opitz Gbbb Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Telecanthus, Cerebellar vermis hypoplasia, Ventricular... |
OMIM:300000 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Death in infancy, Intestinal malrotation, Neoplasm of the heart, Umbilical hernia, M... |
ORPHA:2241 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Anteriorly placed anus, Oligodontia, Chorioretinal coloboma, Spi... |
OMIM:305600 |
Tarp Syndrome |
|
Cyanosis, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Tongue nodules, Persist... |
ORPHA:2886 |
Otopalatodigital Syndrome, Type I |
|
Omphalocele, Selective tooth agenesis, Cleft palate, Multiple impacted teeth, Narrow mouth, Downs... |
OMIM:311300 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Buratti-Harel Syndrome |
|
Epicanthus, Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Submucous cleft hard ... |
OMIM:619314 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Secondary microcephaly, Intestinal atresia |
OMIM:614326 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... |
OMIM:192350 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, S... |
OMIM:615948 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cl... |
OMIM:612561 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Ventricular septal defect, Atrophy/Degeneration affecting the brainstem, Hypert... |
OMIM:616277 |
Orofaciodigital Syndrome Xix |
|
Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Upslanted p... |
OMIM:620107 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular sep... |
OMIM:619306 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cerebral calcification, High, narrow palate, Submucous cle... |
ORPHA:2780 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... |
OMIM:608227 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Upslanted palpebral f... |
ORPHA:250999 |
Down Syndrome |
|
Epicanthus, Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atriove... |
OMIM:190685 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Cleft palate, Coarctation of aorta, Hypoplasia of the corpus callosum,... |
OMIM:620210 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Open mouth, Ventricular septal defect, Hypoplasia of the corpus callosum, Lateral ventricle dilat... |
OMIM:616816 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Tooth malposition, Abnormal cardiac septum morphology, Omphalocele |
ORPHA:2484 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Pa... |
OMIM:300963 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Cyanosis, Abnormal brainstem MRI signal intensity, L... |
ORPHA:444013 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Highly arched eyebrow,... |
OMIM:617452 |
Congenital Heart Block |
|
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Patent fora... |
ORPHA:60041 |
Toriello-Carey Syndrome |
|
Partial agenesis of the corpus callosum, Anteriorly placed anus, High palate, Aplasia/Hypoplasia ... |
ORPHA:3338 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Marden-Walker Syndrome |
|
Abnormal cerebellar vermis morphology, Ventricular septal defect, Dextrocardia, Absent septum pel... |
ORPHA:2461 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Deep philtrum, Flexion contracture, Abnormal aortic arch morphology, ... |
ORPHA:96334 |
Oeis Complex |
|
Omphalocele, Intestinal malrotation, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, Chi... |
OMIM:258040 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Ventricular septal defect, Selective tooth agenesis, Conical tooth, Absent eyel... |
OMIM:106260 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Agangli... |
OMIM:174300 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Cyanosis, Cardiomegaly, Microcephaly, Cerebral atrophy, Abnormal basal ... |
ORPHA:391428 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Telecanthus, Anal stenosis, Inguinal hernia, Hydrocephalus, Abnormal heart morphology, Short phil... |
OMIM:601499 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Cleft lip, Patent ductus arteriosus, Narrow palate, Cleft palate, Contracture of the ... |
OMIM:618223 |
Viss Syndrome |
|
Tortuous cerebral arteries, Prominent superficial blood vessels, Epidural hemorrhage, Chronic gas... |
OMIM:619472 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... |
ORPHA:93930 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Hernia, Atrial septal... |
ORPHA:363705 |
Charge Syndrome |
|
Secundum atrial septal defect, Coloboma, Holoprosencephaly, Pulmonary artery atresia, Atrial sept... |
OMIM:214800 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Epicanthus, Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft lip, Cleft ... |
ORPHA:1770 |
Filippi Syndrome |
|
Cerebellar atrophy, Ventricular septal defect, Microcephaly, Thin vermilion border, Short philtru... |
OMIM:272440 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Atrial septal defect, Downslanted palpebral fissures, Smoo... |
OMIM:614526 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Sparse eyebrow, Ascending tubular aorta aneu... |
ORPHA:444072 |
Fraser Syndrome |
|
Encephalocele, Death in infancy, Anal stenosis, Omphalocele, Dental crowding, Microcephaly, Cleft... |
ORPHA:2052 |
Isolated Childhood Apraxia Of Speech |
|
Caudate atrophy, High, narrow palate, Submucous cleft hard palate, Abnormal caudate nucleus morph... |
ORPHA:209908 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Limb joint contracture... |
ORPHA:505237 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Secundum atrial septal defect, Patent forame... |
OMIM:249420 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Microcephaly, Cleft upper lip, Cleft palate, High palate, Ptosis |
OMIM:609654 |
Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finger, Microcephaly, H... |
OMIM:616920 |
Warsaw Breakage Syndrome |
|
Epicanthus, Ventricular septal defect, Cutis marmorata, Microcephaly, Optic disc coloboma, Wide m... |
OMIM:613398 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale,... |
ORPHA:457279 |
Doors Syndrome |
|
Short lingual frenulum, Downturned corners of mouth, High palate, Widely spaced teeth, Spina bifi... |
ORPHA:79500 |
Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Hypopla... |
OMIM:615102 |
Isolated Anencephaly |
|
Omphalocele, Cleft lip, Congenital diaphragmatic hernia |
ORPHA:563609 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Epicanthus, Cerebral white matter atrophy, Ventricular septal defect, Thin ... |
ORPHA:435638 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Microcephaly, Abnormality of the dentition, Cleft pal... |
ORPHA:261190 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia,... |
ORPHA:1596 |
Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventric... |
ORPHA:2729 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Smooth philtrum, Ventricular septal defect, Synophrys, Patent duct... |
OMIM:620113 |
Arthrogryposis, Distal, Type 3 |
|
Epicanthus, Camptodactyly of finger, Submucous cleft hard palate, Cleft palate, Knee flexion cont... |
OMIM:114300 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Hydrocephalus, Orofacial cleft, Ventricu... |
OMIM:615630 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Ventriculomegaly, Bicuspid aortic valve, Ventricular septal defect, Cutis marmorat... |
OMIM:100300 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Lacrimal duct stenosis, Cardiomegaly, Microcephaly, High palate, Long ... |
OMIM:618798 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Smooth philtrum, Omphalocele, Epicanthus, Diastasis recti, Highly arched eyebrow, Sparse eyebrow,... |
OMIM:618419 |
Cerebrocostomandibular Syndrome |
|
Epicanthus, Anal stenosis, Ventricular septal defect, Cleft soft palate, Microcephaly, Carious te... |
OMIM:117650 |
Cardiac Valvular Dysplasia 1 |
|
Inguinal hernia, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis... |
OMIM:212093 |
Pontocerebellar Hypoplasia, Type 8 |
|
Tented upper lip vermilion, Ventricular septal defect, Reduced cerebral white matter volume, Syno... |
OMIM:614961 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Epicanthus, Ventricular septal defect, Dental crowding, Microcephaly, S... |
OMIM:617061 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Microcephaly, Carious teeth, Patent ductus arteriosus, Velopharyngeal ... |
OMIM:613680 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Microcephaly, Hypoplastic left heart, Aplasia/Hypoplasia of the cerebe... |
ORPHA:2772 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Cy... |
ORPHA:99125 |
Radio-Tartaglia Syndrome |
|
Dental crowding, High, narrow palate, Synophrys, High palate, Short philtrum, Agenesis of corpus ... |
OMIM:619312 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Smooth philtrum, Epicanthus, Ventriculomegaly, Abnormality of the dentition, Carious teeth, Dyspl... |
ORPHA:363444 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Prune belly, Anal atresia |
OMIM:601389 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Highly arched eyebro... |
ORPHA:404440 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, High palate, Ptosis |
ORPHA:98913 |
Fibrochondrogenesis |
|
Omphalocele, Camptodactyly of finger, Cleft palate, Narrow mouth, Downslanted palpebral fissures |
ORPHA:2021 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Patent fo... |
OMIM:618027 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hooded eyelid, Bicuspid aortic valve, Synophrys, Downturned corners of mouth, High palate, Microd... |
OMIM:610759 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, High palate, Bif... |
OMIM:208050 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d... |
OMIM:619769 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydrocephalus, Tracheoes... |
ORPHA:77298 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, Abnormal eyelash morph... |
ORPHA:3378 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Microcephaly, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula |
OMIM:619239 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Agen... |
OMIM:618779 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Smooth philtrum, Thin upper lip vermilion, Ventricular septa... |
OMIM:270450 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, I... |
ORPHA:2962 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like episo... |
ORPHA:137675 |
Bencze Syndrome |
|
Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate, Open bite |
ORPHA:1241 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Ventricular septal defect, Aganglionic megacolon, Microcephaly, Malabsorption, ... |
ORPHA:452 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Microcephaly, Cerebral atrophy, Wide mouth, Chiari type I malformation... |
OMIM:617635 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... |
OMIM:617201 |
Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Wide mouth... |
OMIM:615668 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Microcephaly, Narrow mouth, Atrial septal defect, Anal atresia |
ORPHA:3469 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, High, narrow palate, Short philtrum, Atrial septal defect, Cavum sept... |
ORPHA:464738 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Smooth philtrum, Exaggerated median tongue furrow, Telecanthus, Tented upper lip vermilion, Ventr... |
OMIM:608670 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Complete atrioventric... |
OMIM:619343 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Gingival bleeding, Left ventricular hypertrophy, Volvulus, Bruising susceptibility, Sub... |
ORPHA:335 |
Proboscis Lateralis |
|
Abnormal morphology of bony orbit of skull, Orofacial cleft, Eyelid coloboma, Abnormality of the ... |
ORPHA:141099 |
C Syndrome |
|
Omphalocele, Death in infancy, Epicanthus, Accessory oral frenulum, Microcephaly, Congenital diap... |
ORPHA:1308 |
Kagami-Ogata Syndrome |
|
Omphalocele, Pursed lips, Inguinal hernia, Diastasis recti, Large placenta, Blepharophimosis, Bro... |
ORPHA:254519 |
19P13.12 Microdeletion Syndrome |
|
Epicanthus, Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly,... |
ORPHA:254346 |
Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Ablepharon, Camptodactyly of finger, Absent eyelashes, Wide mouth, E... |
ORPHA:920 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale |
OMIM:263000 |
Ogden Syndrome |
|
Everted upper lip vermilion, Inguinal hernia, Ventricular septal defect, Ventriculomegaly, High, ... |
ORPHA:276432 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Elbow contracture, Spina bifida, Dilatation of the sinus of Valsalva, Hydrocephalus,... |
OMIM:304120 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Epicanthus, Inguinal hernia, Redundant umbilical skin, Cleft soft palate, Patent ductus arteriosu... |
OMIM:614557 |
Mosaic Trisomy 9 |
|
Ventriculomegaly, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Spina... |
ORPHA:99776 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Abnormal tricuspid valv... |
ORPHA:1507 |
Birk-Barel Syndrome |
|
Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Highly arched eyebrow, High pala... |
OMIM:612292 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Ventricular septal defect, Sparse eyelashes, ... |
ORPHA:1071 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Inguinal hernia, Optic nerve hypoplasia, Microcephaly, Submucous cleft hard palate, Flexion contr... |
OMIM:222765 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Ventriculomegaly, Cerebellar vermis hypoplasia, Ventricular septal defect... |
OMIM:620024 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Pulmonary artery stenosis... |
ORPHA:75389 |
Distal Deletion 3P |
|
Epicanthus, Telecanthus, Inguinal hernia, Microcephaly, Cleft palate, Downturned corners of mouth... |
ORPHA:1620 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Pachygyria, Dysplastic corpus callosum, Patent... |
ORPHA:2328 |
Hardikar Syndrome |
|
Ventricular septal defect, Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Cel... |
OMIM:301068 |
Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Ventriculomegaly, Abnormal h... |
ORPHA:494344 |
Orofaciodigital Syndrome I |
|
Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Hamartoma of tong... |
OMIM:311200 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Cyanosis, Protruding tongue, Microcephaly, Thin corpus callosum, Ventriculome... |
OMIM:619580 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Inguinal hernia, Dental crowding, Protruding tongue, Microcephaly, Submucous cleft hard palate, W... |
OMIM:618106 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Cardiofaciocutaneous Syndrome 1 |
|
Deep philtrum, High palate, Atrial septal defect, Absent eyebrow, Absent eyelashes, Open bite, Ap... |
OMIM:115150 |
Char Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar... |
ORPHA:46627 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Deep philtrum, Chiari type I malformation, High palate, Widely spaced teeth, Atrial septal defect... |
OMIM:617506 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Cardiofaciocutaneous Syndrome |
|
Atrial septal defect, Epicanthus, Abnormal heart valve morphology, Abnormal eyelash morphology, H... |
ORPHA:1340 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... |
OMIM:300967 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Colonic Atresia |
|
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia |
ORPHA:1198 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Subcortical cerebral atrophy, Conjunctivitis, Agenesis of corpus call... |
ORPHA:2273 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Cerebral atrophy |
ORPHA:306550 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Telecanthus, Ventricular septal defect, Microcephaly, Cardiomegaly, Flexion contracture, Cleft pa... |
OMIM:616897 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Inguinal hernia, Ventricular septal defect, Absent septum p... |
OMIM:613884 |
19P13.3 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Cerebral atrophy, Cleft palate,... |
ORPHA:447980 |
Acrofacial Dysostosis 1, Nager Type |
|
Sparse lower eyelashes, Ventricular septal defect, Aganglionic megacolon, Microcephaly, Aqueducta... |
OMIM:154400 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Ventricular septal defect, Microcephaly, Esophageal atresia, Pulmonary artery... |
OMIM:301030 |
Jacobsen Syndrome |
|
Eyelid coloboma, Pachygyria, Agenesis of corpus callosum, Iris coloboma, Abnormality of the anus,... |
ORPHA:2308 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Thin upper lip vermilion, Hip contracture, Ventricular septal defec... |
OMIM:616651 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Microcephaly, Atrial septal defect, Keloids, Periventricular leukomalacia |
ORPHA:357225 |
Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Ventricular septal defect, Simplified gyral pattern, Cerebral atrophy, Cleft palate, Hypo... |
OMIM:614261 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Pulmonic stenosis, Chylopericardium |
ORPHA:2414 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Ventricul... |
OMIM:235255 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect, Downs... |
OMIM:620184 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Atrial septal defect, ... |
OMIM:235510 |
8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Sparse eyelashes, Camptodactyly of finger, Highly arched eyebrow, Microcephaly, Spar... |
ORPHA:178303 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Cyanosis, Dysplastic... |
ORPHA:488627 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Epicanthus, Ventricular septal defect, Lacrimal duct stenosis, Intestin... |
ORPHA:457193 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Pate... |
ORPHA:439 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Cyanosis, Holoprosencephaly, Single ventricle |
OMIM:619879 |
Microform Holoprosencephaly |
|
Tented upper lip vermilion, Microcephaly, Cleft palate, Orofacial cleft, Short philtrum, Holopros... |
ORPHA:280200 |
Kleefstra Syndrome |
|
Tented upper lip vermilion, Bicuspid aortic valve, Synophrys, Downturned corners of mouth, Hernia... |
ORPHA:261494 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anal stenosis, Nasolacrimal duct obstruction, Anteriorly placed anus, Eyelid colobom... |
OMIM:248450 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Absent septum pellucidum, Congenital diaphragmatic h... |
OMIM:309801 |
Noonan Syndrome 8 |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Palmoplantar ... |
OMIM:615355 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Cleft lip, Cleft palate, U... |
OMIM:619123 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum |
OMIM:620393 |
2Q31.1 Microdeletion Syndrome |
|
Synophrys, Deep philtrum, Downturned corners of mouth, Coloboma, Atrial septal defect, Iris colob... |
ORPHA:251014 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... |
OMIM:619950 |
Hajdu-Cheney Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Intestinal malrotation, Inguinal hernia, Syno... |
OMIM:102500 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Cleft palate, Agenesis ... |
ORPHA:52055 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Microcephaly, Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2521 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Smooth philtrum, Ventricular septal defect, Cutis marmorata, Intes... |
OMIM:617602 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle, Jaundice, Microcephaly |
ORPHA:1667 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Optic nerve hypoplasia, Cleft soft palate, Microcephaly, Intestinal malrota... |
OMIM:619321 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Short philt... |
ORPHA:293725 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Microcephaly, Bilateral ptosis, Patent ductu... |
ORPHA:163979 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Flexion contracture, Anteriorly plac... |
OMIM:601803 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Cleft upper lip, P... |
OMIM:610443 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Downturned corners of mouth, Coloboma, Oligodontia, High palate, Shallow o... |
ORPHA:453499 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Acrocardiofacial Syndrome |
|
Death in infancy, Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Cleft uppe... |
ORPHA:2008 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Omphalocele, Cleft palate, Mitral valve prolapse, Stillbirth, Tricuspi... |
OMIM:309350 |
Apert Syndrome |
|
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Absent septum pellucidum,... |
OMIM:101200 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Epicanthus, Ventricular septal defect, Intestinal malrotation, Microcepha... |
OMIM:605039 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen conten... |
OMIM:261740 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Congenital diaphragmatic hernia, Simplified gyral pattern, High palate, S... |
ORPHA:96121 |
Myopathy With Extrapyramidal Signs |
|
Cerebellar dysplasia, Epicanthus, Tented upper lip vermilion, Ventricular septal defect, Microcep... |
OMIM:615673 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpul... |
ORPHA:397 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Umbilical hernia, M... |
OMIM:169400 |
Congenital Tracheomalacia |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, ... |
ORPHA:95430 |
Zttk Syndrome |
|
Flexion contracture, Downturned corners of mouth, High palate, Short philtrum, Atrial septal defe... |
OMIM:617140 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Microcephaly, Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate... |
OMIM:619227 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp... |
ORPHA:555874 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal h... |
ORPHA:980 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Sparse eyebrow, Patent duct... |
OMIM:619869 |
Schilbach-Rott Syndrome |
|
Epicanthus, Microcephaly, Submucous cleft hard palate, Upslanted palpebral fissure, Narrow mouth,... |
OMIM:164220 |
Sotos Syndrome |
|
Ventricular septal defect, Sparse eyebrow, High, narrow palate, Muscular ventricular septal defec... |
OMIM:117550 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Inguinal hernia, Ventricular septal defect, Elbow contracture, Multiple pterygia... |
OMIM:178110 |
Hajdu-Cheney Syndrome |
|
Synophrys, Downturned corners of mouth, Periodontitis, Hernia, Iris coloboma, Open bite, Patent d... |
ORPHA:955 |
Acitretin/Etretinate Embryopathy |
|
Epicanthus, Microcephaly, Antecubital pterygium, Conotruncal defect, High palate, Atrioventricula... |
ORPHA:40366 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia... |
OMIM:601186 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital ... |
OMIM:614294 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Branchial fistula, Thin upper lip vermilion, Ventricular septal defect, Ing... |
ORPHA:261330 |
Holoprosencephaly 2 |
|
Median cleft lip and palate, Remnants of the hyaloid vascular system, Alobar holoprosencephaly, M... |
OMIM:157170 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Highly arched eyebrow, Microcephaly, Patent ductus arteriosus, Hypoxemia, Subm... |
ORPHA:2282 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Death in infancy, Cyanosis, Microcephaly, Concentric hypertrophic cardiomyopa... |
OMIM:252010 |
Distal Deletion 19P |
|
Vaginal hernia, Ventricular septal defect, Cleft palate, Keloids, Short philtrum, Tricuspid valve... |
ORPHA:96129 |
Branchioskeletogenital Syndrome |
|
Synophrys, Anteriorly placed anus, Downturned corners of mouth, Eyelid coloboma, Short philtrum, ... |
ORPHA:1299 |
King-Denborough Syndrome |
|
Ventricular septal defect, Bilateral ptosis, Deep philtrum, High palate, Downslanted palpebral fi... |
OMIM:619542 |
Asbestos Intoxication |
|
Cyanosis, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desaturation on exertion |
ORPHA:2302 |
Myhre Syndrome |
|
Inguinal hernia, Femoral hernia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnor... |
ORPHA:2588 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Microcephaly, Sparse eyebrow, Hypoplasia of the pons, Dental malocclus... |
OMIM:616202 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Tracheoesophageal fist... |
ORPHA:268249 |
Distal 22Q11.2 Microduplication Syndrome |
|
Smooth philtrum, Branchial fistula, Epicanthus, Palpebral edema, Ventricular septal defect, Campt... |
ORPHA:261337 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Upslanted palpebral fissure, Cleft hard palate, Knee flexion contracture |
ORPHA:166016 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Esophageal atresia, Deep philtr... |
OMIM:610536 |
16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Optic nerve hypoplasia, Highly arched eyebrow, Dilat... |
ORPHA:261250 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Lower eyelid coloboma, Upper e... |
OMIM:154500 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe... |
OMIM:614262 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Atrial ... |
ORPHA:818 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Telecanthus, Ventricular septal defect, Hamartoma of tongue, Microcepha... |
ORPHA:434179 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Thin upper lip vermilion, Telecanthus, Abnormal eyelash morphology, Downturned corne... |
ORPHA:3164 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Ethylmalonic Encephalopathy |
|
Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity, Acrocyanosi... |
ORPHA:51188 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Pate... |
OMIM:244300 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Tetralogy of Fallot... |
OMIM:153400 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Ventricular septal defect, Aganglionic megacolon, Highly arched eyebrow, Microcephal... |
OMIM:609460 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Intestinal malrotation,... |
OMIM:244450 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Lar... |
ORPHA:116 |
Noonan Syndrome 2 |
|
Epicanthus, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Sparse e... |
OMIM:605275 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Vasculitis, Chei... |
ORPHA:2331 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Intracranial hemorr... |
ORPHA:740 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Cutis marmorata, Anal stenosis, Micro... |
ORPHA:235 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Abnormal eyelash morphology, Py... |
OMIM:147791 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... |
ORPHA:436252 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Thin upper lip vermilion, Epicanthus, Dilation of Virchow-Robin spaces, Ventricular septal defect... |
OMIM:300998 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Coloboma, High palate, Patent foramen ovale... |
OMIM:616975 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Synophrys, Orofacial cleft, High palate, Atrial septal defect, Pachygyria,... |
OMIM:607872 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Ventricular septal defect, Microcephaly, Contractures of the large join... |
ORPHA:3078 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Epicanthus, Inguinal hernia, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, A... |
OMIM:613457 |
Kury-Isidor Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth, Long phi... |
OMIM:619762 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abn... |
ORPHA:91387 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Absent septum pellucidum, Patent ductus arteriosus, Downslanted palpeb... |
OMIM:618870 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition... |
ORPHA:96167 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Inguinal hernia, Ventricular septal defect, Absent eyelashes, Chiari type I malfo... |
ORPHA:166035 |
Prune Belly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Aplasia of the abdom... |
ORPHA:2970 |
Catel-Manzke Syndrome |
|
Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Pier... |
OMIM:616145 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Bicuspid aortic valve, Coloboma, Atrioventricular canal defect, Agenesis of co... |
ORPHA:508498 |
Phelan-Mcdermid Syndrome |
|
Epicanthus, Ventriculomegaly, Palpebral edema, Ventricular septal defect, Microcephaly, Patent du... |
OMIM:606232 |
Transaldolase Deficiency |
|
Ventricular septal defect, Synophrys, Patent ductus arteriosus, Deep philtrum, Telangiectasia, Co... |
OMIM:606003 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Macrodontia, Microcephaly, Protruding tongue, Diastema, Gingival overg... |
OMIM:212066 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Deep philtrum, Flexion cont... |
OMIM:309520 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Patent d... |
OMIM:300990 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Popliteal pterygium |
ORPHA:3329 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Ablepharon, Omphalocele, Hypoplasia of eyelid, Absent eyelashes, ... |
OMIM:200110 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Microcephaly, Abnormality of the dentition, Deep philtrum, Camptodacty... |
ORPHA:251038 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hypoplastic colon, Epicanthus, Upslanted palpebral fissure, Hypoplasia of the small ... |
OMIM:200995 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Simplified gyral pattern, Downturned corners of mouth, Cerebellar hemisphere hypoplasia, Short ph... |
ORPHA:500150 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Abnormal aortic arch morphology, Short philtrum, Atrial septal defect... |
ORPHA:567 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Short Stature-Micrognathia Syndrome |
|
Cerebellar atrophy, Ventricular septal defect, Microcephaly, Cleft palate, High palate, Downslant... |
OMIM:617164 |
Noonan Syndrome 10 |
|
Epicanthus, Ventricular septal defect, Sparse eyebrow, Patent ductus arteriosus, Mitral valve pro... |
OMIM:616564 |
Restrictive Dermopathy 1 |
|
Atrial septal defect, Prominent superficial blood vessels, Entropion, Sparse eyelashes, Natal too... |
OMIM:275210 |
Tolchin-Le Caignec Syndrome |
|
Hooded eyelid, Diastasis recti, Submucous cleft hard palate, Nasolacrimal duct obstruction, Cardi... |
OMIM:618971 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Dental crowding, Congenital diaphragmatic hernia, Synophrys, Downturned corner... |
OMIM:301044 |
Noonan Syndrome 4 |
|
Epicanthus, Ventricular septal defect, Sparse eyebrow, Bilateral ptosis, Dental malocclusion, Wid... |
OMIM:610733 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Microcephaly |
OMIM:150260 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Downslanted palpebral fissures, Posteriorly placed tongue, Pierre-Ro... |
OMIM:192445 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Vascular dilatation |
OMIM:219730 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Abnormal nasolacrimal system morphology, Absent septum pellucidum, Prematurely a... |
ORPHA:2658 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Cerebral arteriovenous malforma... |
OMIM:610655 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palat... |
ORPHA:268261 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Synophrys, Downturned corners of mouth, High palate, Widely spaced teeth, Microd... |
OMIM:618268 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Classical Ehlers-Danlos Syndrome |
|
Incisional hernia, Rectal prolapse, Ecchymosis, Acrocyanosis, Prematurely aged appearance, Poor w... |
ORPHA:287 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Cleft... |
ORPHA:306542 |
Cree Mental Retardation Syndrome |
|
Coloboma, Downslanted palpebral fissures, Cleft soft palate, Ptosis |
OMIM:606851 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Microcephaly, Jaundice, Patent ductus arteriosus, Atrial septal defect |
ORPHA:290 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Agenesis of corpus call... |
OMIM:300472 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Microcephaly, High, narrow palate, Submucous cleft hard palate, Glossopt... |
ORPHA:3201 |
Trichothiodystrophy |
|
Multiple joint contractures, High, narrow palate, Partial agenesis of the corpus callosum, Conjun... |
ORPHA:33364 |
Noonan Syndrome 3 |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Chiari ty... |
OMIM:609942 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Micr... |
OMIM:601005 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Microcephaly, Patent d... |
OMIM:300712 |
Coffin-Siris Syndrome 12 |
|
Epicanthus, Highly arched eyebrow, Microcephaly, Celiac disease, Patent foramen ovale, Synophrys,... |
OMIM:619325 |
Encephalopathy, Ethylmalonic |
|
Focal T2 hyperintense basal ganglia lesion, Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Inguinal hernia, Epicanthus, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft ... |
OMIM:619122 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Cyanosis, Misalignment of the pulmonary veins |
OMIM:265120 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Zellweger Syndrome |
|
Death in infancy, Epicanthus, Ventricular septal defect, Microcephaly, Malabsorption, Pyloric ste... |
ORPHA:912 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate |
OMIM:609166 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Anteriorly p... |
ORPHA:1488 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Flexion contracture, Micro... |
OMIM:210710 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Vasculitis, Erythema, Urticaria, Recurrent aphthous stomatitis, Acrocyano... |
ORPHA:343 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dandy-Walker malformation, Ventricular septa... |
ORPHA:1465 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... |
ORPHA:352665 |
Delpire-Mcneill Syndrome |
|
Agenesis of corpus callosum, Cortical dysplasia, Ventricular septal defect, Tracheoesophageal fis... |
OMIM:619083 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of max... |
ORPHA:2751 |
Costello Syndrome |
|
Epicanthus, Ventricular septal defect, Abnormal dental enamel morphology, Abnormality of the dent... |
ORPHA:3071 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... |
OMIM:609192 |
Distal Duplication 5Q |
|
Epicanthus, Ventricular septal defect, Dextrocardia, Microcephaly, Carious teeth, Thin vermilion ... |
ORPHA:96097 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Cyanosis, Ventricular septal defect, Abnormal stomach morphology, Ascending ... |
ORPHA:141127 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epicanthus, Microcephaly, Submucous cleft hard palate, Upslanted palpeb... |
OMIM:619680 |
Neuroocular Syndrome |
|
Synophrys, Lens coloboma, Downturned corners of mouth, Widely spaced teeth, Torus palatinus, Pate... |
OMIM:619539 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:613870 |
W Syndrome |
|
Telecanthus, Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, B... |
ORPHA:2804 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Desbuquois Syndrome |
|
Abnormal eyelash morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular se... |
ORPHA:1425 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Telecanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Upslanted palpebral fissure... |
OMIM:620073 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Thick eyebrow, Smooth philtrum, Ventricular septa... |
OMIM:619229 |
Cohen Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormal eyelid morphol... |
ORPHA:193 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Codas Syndrome |
|
Delayed eruption of teeth, Epicanthus, Ventricular septal defect, Abnormal dental enamel morpholo... |
ORPHA:1458 |
Dravet Syndrome |
|
Cyanotic episode, Global brain atrophy |
ORPHA:33069 |
Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Inguinal hernia, Malabsorption, Venous insufficiency, Microdontia, Abnormality of the... |
ORPHA:285 |
Teebi-Shaltout Syndrome |
|
Telecanthus, Ventricular septal defect, Highly arched eyebrow, Microcephaly, High, narrow palate,... |
OMIM:272950 |
Fanconi Anemia |
|
Abnormal eyelid morphology, High palate, Atrial septal defect, Spina bifida, Aplasia/Hypoplasia o... |
ORPHA:84 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion ... |
ORPHA:261537 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Epicanthus, Ventriculomegaly, Cleft upper lip, Esophageal atresia, Ectopic anus, Cer... |
ORPHA:93271 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Central cyanosis, Ascending tubular aorta aneurysm, Pulmonic stenosis, Sub... |
OMIM:620067 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Death in infancy, Epicanthus, Ventricular septal defect, Palpebral edema, Jau... |
OMIM:614866 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Patent... |
OMIM:609053 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion ... |
ORPHA:261552 |
Congenital Myasthenic Syndrome |
|
Arthrogryposis multiplex congenita, Cyanosis, High palate, Ptosis |
ORPHA:590 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Smooth p... |
OMIM:616730 |
Presynaptic Congenital Myasthenic Syndromes |
|
Arthrogryposis multiplex congenita, Cyanosis, High palate, Ptosis |
ORPHA:98914 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Telecanthus, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Eyelid ... |
OMIM:229400 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Sparse eyebrow, Coarctation of aorta, Pulmonic stenosis, Downslanted p... |
OMIM:616559 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, High, narrow palate, Synophrys, Downturned corners of mouth, Hig... |
OMIM:122470 |
Ogden Syndrome |
|
Bicuspid aortic valve, Abnormal eyelid morphology, Cardiomegaly, Secundum atrial septal defect, D... |
OMIM:300855 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Conical tooth, Partial agenesis of the corpus callosum, High pal... |
OMIM:135900 |
Hereditary Bullous Dystrophy, Macular Type |
|
Microcephaly, Acrocyanosis, Abnormal heart morphology |
ORPHA:1867 |
Chromosome 16P13.3 Duplication Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Ventricular se... |
OMIM:613458 |
Mowat-Wilson Syndrome |
|
Large basal ganglia, Widely spaced teeth, Chorioretinal coloboma, Atrial septal defect, Agenesis ... |
OMIM:235730 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Epicanthus, Ventricular septal defect, Cleft soft palate, Microcephaly, Cl... |
ORPHA:124 |
Aicardi-Goutières Syndrome |
|
Cerebral calcification, Cutis marmorata, Multiple joint contractures, Lipoatrophy, Cardiomegaly, ... |
ORPHA:51 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Varicose veins... |
OMIM:126320 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Esophageal varix, Ventricular septal defect, Cutis marmorata |
OMIM:616589 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula, Chondrocalcinosis |
OMIM:601492 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Microcephaly, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa... |
OMIM:618348 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Cutis marmorata, Abnormal pericardium morphology, Transient ischemic atta... |
ORPHA:183 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Inguinal hernia, Microcephaly, Cariou... |
OMIM:223370 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, High, narrow palate, Hydrocephalus, Chiari type I malformation, Latera... |
OMIM:619575 |
Kleefstra Syndrome 1 |
|
Natal tooth, Persistence of primary teeth, Microcephaly, Protruding tongue, Synophrys, Conotrunca... |
OMIM:610253 |
Oculodentodigital Dysplasia |
|
Epicanthus, Cerebral calcification, Ventricular septal defect, Abnormal dental enamel morphology,... |
ORPHA:2710 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic... |
OMIM:617450 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Diastasis recti, Cardiomegaly, Macroglossia, Cardiomyopathy, Dandy-Walker malformation |
OMIM:130650 |
Coffin-Lowry Syndrome |
|
Telecanthus, Inguinal hernia, Cutis marmorata, Ventriculomegaly, Highly arched eyebrow, Microceph... |
OMIM:303600 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Microcephaly, Ab... |
ORPHA:251028 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Ap... |
ORPHA:354 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Telangiectasia, Hypoxemia, Pulmonary arteriovenous fistulas,... |
ORPHA:2038 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventriculomegaly, Ventricular septal defect, Pancreati... |
ORPHA:1655 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, High, narrow palate, Flexion contracture, Coloboma, Aortic isthmus hypoplasia, H... |
OMIM:180849 |
Alagille Syndrome |
|
Ventricular septal defect, Telangiectasia of the skin, Short philtrum, Atrial septal defect, Spin... |
ORPHA:52 |
Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion ... |
ORPHA:2152 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Cyanosis, Hypoxemia |
ORPHA:79126 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Dental crowding, Partial agenesis of the corpus callosum, Chiari type I... |
OMIM:270400 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Microcephaly, Hiatus hernia, Aplasia/Hypoplasia of the corpus callosum, Up... |
ORPHA:2896 |
Tbck-Related Intellectual Disability Syndrome |
|
Epicanthus, Tented upper lip vermilion, Ventricular septal defect, Diastasis recti, Ventriculomeg... |
ORPHA:488632 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Absent pulmonary artery, Patent ductus arteriosus, Cl... |
OMIM:600460 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Cyanosis |
OMIM:619793 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Microcephaly, Submucous cleft hard palate, Flexion contracture, Cerebral atro... |
OMIM:618891 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Epicanthus, Ventricular septal defect, Microcephaly, Protruding tongue, Diastema, Thick lower lip... |
OMIM:301040 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Ventricular septal defect, Protruding tongue, High, narrow palate, Patent ductus arte... |
OMIM:214100 |
Chops Syndrome |
|
Ventricular septal defect, Microcephaly, High, narrow palate, Synophrys, Patent ductus arteriosus... |
OMIM:616368 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Microcephaly |
OMIM:250800 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
Renpenning Syndrome 1 |
|
Coloboma, High palate, Short philtrum, Death in childhood, Atrial septal defect, Narrow mouth, Jo... |
OMIM:309500 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Ventricular septal defect, Microcephaly, Jaundice, Lissencephaly, Arthrogryposi... |
OMIM:613404 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Abnormal nasolacrimal system morphology, Ventricular septal defect, Camptod... |
ORPHA:3047 |
Native American Myopathy |
|
Bilateral ptosis, Cleft palate, Downturned corners of mouth, Congenital contracture, High palate,... |
ORPHA:168572 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Lens coloboma, Abnorma... |
ORPHA:42775 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Death in infancy, Cerebellar vermis hypoplasia, Ventricular septal defect, S... |
OMIM:274000 |
Fucosidosis |
|
Lipoatrophy, Abnormality of the dentition, Cardiomegaly, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Costello Syndrome |
|
Epicanthus, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Thick lower lip vermilion... |
OMIM:218040 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:615279 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Cyanosis, Microcephaly |
ORPHA:159 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi... |
ORPHA:268810 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Anomalous pulmonary venous return, ... |
ORPHA:99104 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Epicanthus, Inguinal hernia, Ventricular septal defect, Abnormal right ventricle morphology, Mitr... |
ORPHA:500095 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Chronic irritative conjunctivitis, Sparse eyebrow, Cleft hard palate, Cl... |
ORPHA:69085 |
Wiedemann-Rautenstrauch Syndrome |
|
Congenital malformation of the left heart, Synophrys, Downturned corners of mouth, Chiari type I ... |
ORPHA:3455 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Epicanthus, Ventricular septal defect, Microcephaly, Narrow mouth, Coarctat... |
OMIM:614114 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... |
ORPHA:139466 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Microcephaly, Jaundice, Lissencephaly, Atrial septal... |
OMIM:208085 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Chiari type I malformation, Ectodermal dysplasia, Atrial septal defect, Ag... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Chiari type I malformation, Ectodermal dysplasia, Atrial septal defect, Ag... |
ORPHA:363958 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Gingival overgrowth, Macroglos... |
ORPHA:96191 |
Charge Syndrome |
|
Aqueductal stenosis, Eyelid coloboma, Holoprosencephaly, Chorioretinal coloboma, Aplasia/Hypoplas... |
ORPHA:138 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Cleft maxillary alveolar ridge, Atrioventricular canal defect, Spina bifida occul... |
ORPHA:508488 |
Orofaciodigital Syndrome Type 10 |
|
Telecanthus, Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
Campomelic Dysplasia |
|
Irregular dentition, Epicanthus, Spina bifida, Carious teeth, Contracture of the distal interphal... |
OMIM:114290 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Ventriculomegaly, Bicuspid aortic valve, Ventricular septal defect, Partial a... |
OMIM:620066 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Disp... |
ORPHA:1329 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, High, narrow palate, Chiari type I malformation, Short philtrum, Widely spaced t... |
ORPHA:466791 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Cleft palate,... |
OMIM:612562 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Ventricular septal defect, Microcephaly, Partial agenesis of the co... |
OMIM:234050 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... |
OMIM:618021 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
Pallister-Hall Syndrome |
|
Natal tooth, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cleft palate, ... |
OMIM:146510 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Feingold Syndrome 1 |
|
Epicanthus, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Microcephaly, Esophag... |
OMIM:164280 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Death in infancy, Cyanosis, Microcephaly, Cerebral atrophy, Death in childhoo... |
OMIM:618426 |
Stickler Syndrome, Type I |
|
Pierre-Robin sequence, Submucous cleft hard palate, Cleft palate, Mitral valve prolapse, Bifid uvula |
OMIM:108300 |
Yunis-Varon Syndrome |
|
Cardiomegaly, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Short philtrum, ... |
ORPHA:3472 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect |
ORPHA:49827 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... |
ORPHA:199302 |
Kabuki Syndrome 1 |
|
High palate, Atrial septal defect, Highly arched eyebrow, Sparse eyebrow, Prominent eyelashes, Lo... |
OMIM:147920 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect |
OMIM:249270 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Filippi Syndrome |
|
Ventricular septal defect, Microcephaly, Thin vermilion border, Short philtrum, Downslanted palpe... |
ORPHA:3255 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Cerebral atrophy |
OMIM:261680 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Simplified gyral patter... |
OMIM:616777 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Delayed eruption of permanent teeth, Ventricular septal defect, Ca... |
OMIM:113000 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Epicanthus, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Hypoplasia of the ... |
ORPHA:2519 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Meconium ileus, Knee flexion contracture, Hyperintensity of cerebral white matter on MR... |
OMIM:617239 |
Duane-Radial Ray Syndrome |
|
Epicanthus, Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Retinal coloboma, At... |
OMIM:607323 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Thin vermilion border, Ventricular septal defect, Long philtrum |
ORPHA:85194 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Epicanthus, Thin vermilion border, Anal atresia |
OMIM:182210 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Blepharophimosis, Cleft upper lip, Patent duc... |
OMIM:164210 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Prune belly, Ventricular septal defect, Increased overbite |
OMIM:618504 |
Robinow Syndrome |
|
Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Persistence of p... |
ORPHA:97360 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Submucous cleft hard palate, Tooth malposition, Cleft palate, Hypoplasia of the ... |
ORPHA:2250 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Ventricular septal defect, Large placenta, Jaundice, Wide mouth, Pulmonic stenos... |
OMIM:222470 |
Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Neuronal loss in basal ganglia, ... |
ORPHA:506 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Microcephaly, Wide mouth, Sparse or absent eyelashes, Thin vermilion b... |
ORPHA:217346 |
Eosinophilic Fasciitis |
|
Fasciitis, Acrocyanosis, Cellulitis |
ORPHA:3165 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Tooth malposition, Elbow flexion contracture... |
OMIM:608328 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Ectopic... |
ORPHA:2473 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Acrocyanosis, Macular purpura |
ORPHA:49566 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Aortic root aneurysm, Short philtrum, Camptodactyly, Atrial septal def... |
OMIM:301039 |
Mgat2-Cdg |
|
Ventricular septal defect, Dental crowding, Patent ductus arteriosus, Abnormal heart morphology, ... |
ORPHA:79329 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Abnormal pulmonary vein morphology, Cyanosis, Hypoxemia |
ORPHA:199241 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Downslanted palpebral fissures |
ORPHA:2256 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... |
ORPHA:1923 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic he... |
OMIM:618846 |
Mosaic Trisomy 16 |
|
Meckel diverticulum, Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnorma... |
ORPHA:1708 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Inte... |
OMIM:618280 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Microcephaly, Abnormality of the gingiva,... |
ORPHA:513456 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Sacral lipoma, Re... |
OMIM:600145 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Epicanthus, Ventricular septal defect, Intestinal malrotation, Microcephaly, Thick corpus callosu... |
OMIM:617798 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Sepsis In Premature Infants |
|
Cyanosis, Jaundice, Enterocolitis, Petechiae, Purpura |
ORPHA:90051 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Foam cells, Cyanosis |
ORPHA:747 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Epicanthus, Inguinal hernia, Ventricular septal defect, Long eyelashes, High palate, Pulmonic ste... |
OMIM:607721 |
Woods Syndrome |
|
Thin vermilion border, Ventricular septal defect |
OMIM:615236 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, Chiari type I malformation, Coloboma, High palate, Atrial... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, Chiari type I malformation, Coloboma, High palate, Atrial... |
ORPHA:353277 |
Unilateral Polymicrogyria |
|
Cyanosis, Pulmonary arteriovenous malformation, Microcephaly, Cortical dysplasia, Perisylvian pol... |
ORPHA:268943 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Complete atrioventricular canal defect, Cleft palate, D... |
OMIM:617063 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Anteriorly placed anus, Conical incisor, Widely spaced teeth, Atrial sept... |
OMIM:261540 |
Diamond-Blackfan Anemia 1 |
|
Epicanthus, Ventricular septal defect, Tricuspid stenosis, Microcephaly, Cleft upper lip, Cleft p... |
OMIM:105650 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Death in infancy, Cyanosis, Neonatal death |
OMIM:610921 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pu... |
ORPHA:99106 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Intestinal malrotation, Hamartoma of ton... |
OMIM:263520 |
Larsen Syndrome |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Hypodontia, Shallow orbits, Atrial sept... |
OMIM:150250 |
Wolf-Hirschhorn Syndrome |
|
Periventricular cysts, Orofacial cleft, Downturned corners of mouth, Short philtrum, Atrial septa... |
OMIM:194190 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Thin upper lip vermilion, Epicanthus, Inguinal hernia, Ventricular septal defect, Microcephaly, N... |
ORPHA:459070 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Cerebral calcification, Ventricular septal defect, Abnormal dental ena... |
ORPHA:1782 |
Thauvin-Robinet-Faivre Syndrome |
|
Epicanthus, Inguinal hernia, Ventricular septal defect, Mitral valve prolapse, Coloboma, Varicose... |
OMIM:617107 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ventricular septal defect, Microcephaly, Diffuse wh... |
ORPHA:1934 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Orofacial cleft... |
ORPHA:2753 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Diffuse cerebral atrophy, Ventricular septal defect, Thin corpus callosum |
OMIM:619908 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, A... |
OMIM:618748 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Epicanthus, Hip contracture, Deep philtrum, Submucous cleft hard palate... |
OMIM:619194 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal prolapse, Atri... |
ORPHA:904 |
Digeorge Syndrome |
|
Inguinal hernia, Ventricular septal defect, Femoral hernia, Microcephaly, High, narrow palate, Pa... |
OMIM:188400 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Synophrys, Downturned corners of mouth, High palate, Widely spac... |
ORPHA:199 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent... |
OMIM:613309 |
Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Downturned corners of mouth, Conjunctivitis, Short philtrum, Atria... |
OMIM:616268 |
Omodysplasia 1 |
|
Atrial septal defect, Epicanthus, Ventricular septal defect, Pulmonary artery stenosis, Popliteal... |
OMIM:258315 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Prematurely aged appearance, Ventricular septal defect, Progeroid facial appeara... |
OMIM:123700 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Absent mesencephalon, Bifid uvula, Cerebellar dysplasia |
OMIM:601374 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Ethylene Glycol Poisoning |
|
Cyanosis, Gastritis, Cerebral edema, Renal tubular epithelial necrosis |
ORPHA:31826 |
Eisenmenger Syndrome |
|
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal he... |
ORPHA:97214 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,... |
OMIM:611812 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow... |
OMIM:602782 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Coloboma, Inlet ... |
OMIM:619534 |
Myhre Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Microcephaly, Pericard... |
OMIM:139210 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Tooth malposition, Narrow palate, Pulmonic s... |
OMIM:277600 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Coloboma, Atrial septal defect, Patent ductus arteriosus,... |
ORPHA:353281 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Pierre-Robin sequence, Cleft pal... |
OMIM:614921 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, High, narrow palate, Synophrys, Coloboma, High palate, Short philtrum, Cho... |
OMIM:619475 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Epicanthus, Ventricular septal defect, Abnormal dental pulp morphology, Hydrocephalus, Abnormal h... |
ORPHA:363700 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Dental crowding, Abnormality of t... |
ORPHA:769 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Abnormal eyelid morphology, Gastrointestinal stroma tum... |
ORPHA:221 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Epicanthus, Ventricular septal defect, Microcephaly, High palate, Hypoplasia of the corpus callos... |
OMIM:619418 |
Pallister-Hall Syndrome |
|
Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Accessory or... |
ORPHA:672 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Ventricular septal defect, Cerebellar vermis h... |
OMIM:620330 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Ankle flexion contracture, Microcephaly, Patent ductus arteriosus, Abn... |
ORPHA:464311 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Highly arched eyebrow, Microcephaly, Patent ... |
ORPHA:444077 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Ankle flexion contracture, Microcephaly, Cleft upper lip, Patent ductu... |
OMIM:268300 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
X Small Rings |
|
Thin upper lip vermilion, Epicanthus, Ventricular septal defect, Bicuspid aortic valve, Aortic ro... |
ORPHA:96201 |
Degcags Syndrome |
|
Synophrys, Premature graying of hair, High palate, Atrial septal defect, Agenesis of corpus callo... |
OMIM:619488 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Microcephaly, Pyloric stenosis, Patent du... |
ORPHA:464306 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve ... |
ORPHA:99103 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Premature graying of hair, Chiari ty... |
OMIM:194050 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Syndromic Diarrhea |
|
Villous atrophy, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Gastritis, Pa... |
ORPHA:84064 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cyanosis, Cerebral calcification, Medial calcification of large arteries... |
ORPHA:51608 |
Fanconi Anemia, Complementation Group N |
|
Epicanthus, Ventricular septal defect, Microcephaly |
OMIM:610832 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Jaundice, Dilated cardiomyopathy, Anteriorly pla... |
ORPHA:26793 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
Poems Syndrome |
|
Pericardial effusion, Acrocyanosis, Lipodystrophy |
ORPHA:2905 |
Noonan Syndrome 1 |
|
Epicanthus, Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Dental malo... |
OMIM:163950 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion, Hypoxemia |
OMIM:610978 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Oxygen desaturation ... |
ORPHA:60025 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Microcephaly, Narr... |
OMIM:619268 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Erythema, Flexion contracture, Corneal scarring, High palate, Open mouth |
OMIM:614653 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Sparse eyelashes, Sparse eyebrow, Thick vermilion border, Downslanted ... |
OMIM:250410 |
Sotos Syndrome |
|
Cerebellar vermis hypoplasia, No permanent dentition, Flexion contracture, Atrial septal defect, ... |
ORPHA:821 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Meier-Gorlin Syndrome 5 |
|
Long philtrum, Submucous cleft hard palate, Thick vermilion border, Microcephaly |
OMIM:613805 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Myasthenia Gravis |
|
Acrocyanosis, Ptosis |
ORPHA:589 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Microcephaly, Hydrocephalus, Tra... |
OMIM:107480 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Cleft lip, Dysplastic tricuspid valve, Cleft palate, Upslanted palpebr... |
ORPHA:1724 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Microcephaly, Agenesis of corpus callosum, Abnormal cardiac septum mor... |
ORPHA:209905 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Ventricular septal defect, Microcephaly, Ventricular septal hypertrophy, Abnorma... |
OMIM:614947 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Cardiomyopathy, Ischemic stroke, Vasculit... |
ORPHA:48435 |
Primary Hyperoxaluria |
|
Cutis marmorata, Abnormality of the dentition, Rootless teeth, Cardiomyopathy, Abnormal dental pu... |
ORPHA:416 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Cleft palate, Upslanted pal... |
OMIM:134780 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Pyloric stenosis, Ectopic anus, Hypodontia, H... |
ORPHA:3138 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Microcephaly, High, narrow palate, Submucous cleft hard palate, Cleft pa... |
ORPHA:2554 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Cyanosis |
OMIM:610913 |
Cardiospondylocarpofacial Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ven... |
OMIM:157800 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Esophageal atresia, Patent ductu... |
OMIM:206900 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Abnormal eyebrow morphology, Epicanthus, Abnormal heart valve morphology, C... |
ORPHA:1606 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... |
OMIM:618775 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Optic nerve hypoplasia, Pulmonary artery stenosis, Patent ductus arter... |
ORPHA:79345 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage |
ORPHA:369929 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Celiac disease, Cyanosis, Everted lower lip vermilion, Abnormal midbrain morphology |
ORPHA:293987 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Ventricular hypertrophy, Delayed eruption of teeth, Mitral stenosis, Ventricular septal defect, H... |
OMIM:143095 |
Fanconi Anemia, Complementation Group C |
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Epicanthus, Ventricular septal defect, Microcephaly, Flexion contracture, Bruising susceptibility |
OMIM:227645 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Microcepha... |
OMIM:616682 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral arteries, Aortopulmo... |
OMIM:620025 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Acrocyanosis, Hypogeusia |
OMIM:223900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Cleft palate, High palate,... |
OMIM:271640 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Absent septum pellucidum, Alm... |
ORPHA:438213 |
Alagille Syndrome 1 |
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Ventricular septal defect, Coarctation of aorta, Upslanted palpebral fissure, Stroke, Renal arter... |
OMIM:118450 |
Hyperoxaluria, Primary, Type I |
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Acrocyanosis, Cutis marmorata, Peripheral arterial stenosis |
OMIM:259900 |
Hand-Foot-Genital Syndrome |
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Miscarriage, Ventricular septal defect |
ORPHA:2438 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Microcephaly, Loss of eyelashes, Submucous cleft hard palate, Cleft palate, Thick vermilion borde... |
ORPHA:2636 |
Diamond-Blackfan Anemia 12 |
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Ventricular septal defect |
OMIM:615550 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Hip contracture, Anal stenosis, Ventricular septal defect, Microcephal... |
OMIM:606170 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Epicanthus, Inguinal hernia, Ventricular septal defect, Left atrial enlargemen... |
OMIM:619991 |
Holt-Oram Syndrome |
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Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Carious teeth, Patent ductus ar... |
OMIM:619522 |
Yunis-Varon Syndrome |
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Cerebellar vermis hypoplasia, High palate, Short philtrum, Pachygyria, Agenesis of corpus callosu... |
OMIM:216340 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Inguinal hernia, Ventricular septal defect, Supernumerary tooth, Prolonged neonatal jaundice, Tet... |
OMIM:619525 |
Diamond-Blackfan Anemia 5 |
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Ventricular septal defect |
OMIM:612528 |
Familial Dysautonomia |
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Acrocyanosis |
ORPHA:1764 |
Keutel Syndrome |
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Cerebral calcification, Ventricular septal defect, Miscarriage, Deep philtrum, Pulmonary artery h... |
OMIM:245150 |
Johanson-Blizzard Syndrome |
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Colonic diverticula, Absent lacrimal punctum, Ventricular septal defect, Microcephaly, Situs inve... |
OMIM:243800 |
Craniotubular Dysplasia, Ikegawa Type |
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Epicanthus, Ventricular septal defect, Thick lower lip vermilion, Long philtrum, Thick upper lip ... |
OMIM:619727 |
Orotic Aciduria |
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Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Ulnar-Mammary Syndrome |
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Anal stenosis, Inguinal hernia, Ventricular septal defect, Pyloric stenosis, Elbow flexion contra... |
OMIM:181450 |
Renal Agenesis |
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Ventricular septal defect, Anal atresia |
ORPHA:411709 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Ventricular septal defect |
OMIM:615503 |
Penile Agenesis |
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Ventricular septal defect, Cloacal abnormality, Rectal fistula, Tracheoesophageal fistula, Atrial... |
ORPHA:49 |
Goodpasture Syndrome |
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Cyanosis |
OMIM:233450 |
Osteoporosis-Pseudoglioma Syndrome |
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Ventricular septal defect, Microcephaly |
OMIM:259770 |