Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... |
OMIM:601927 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Fetal akinesia sequence, Hydrops fetalis, Thoraci... |
OMIM:617022 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Hepatomegaly, Fetal peric... |
OMIM:619462 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Left atrial enlargement, Decreased muscle glycogen content, Stroke,... |
OMIM:611556 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Right aortic arch, Tra... |
OMIM:231060 |
Nemaline Myopathy 9 |
|
Polyhydramnios, Fetal akinesia sequence, High palate, Ventricular septal defect, Breech presentat... |
OMIM:615731 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Anemia, Ventricular septal defect, I... |
ORPHA:3405 |
Indomethacin Embryofetopathy |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Premature birt... |
ORPHA:1909 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp... |
ORPHA:860 |
Sonoda Syndrome |
|
Depressed nasal bridge, Narrow mouth, Ventricular septal defect |
OMIM:270460 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... |
OMIM:613424 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertro... |
OMIM:620135 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement |
OMIM:115210 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Nonimmune hydrops fetalis, Anteverted na... |
OMIM:613124 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, High palate, Wide nasal bridge, Atrial s... |
ORPHA:3304 |
Fetal Parvovirus Syndrome |
|
Anemia, Hydrops fetalis, Hypertrophic cardiomyopathy, Thrombocytopenia, Ascites, Increased nuchal... |
ORPHA:295 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Absent muscle dystrophin expression, Calf muscle hypertrophy, Thoracic kyphosis, Elbow flexion co... |
ORPHA:206546 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pierre-Robin sequence, Long philtrum, Perimembranous ventricular septal defect, Shor... |
OMIM:617877 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... |
OMIM:220210 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Abnormal macrophage morp... |
ORPHA:353 |
Transaldolase Deficiency |
|
Anemia, Hydrops fetalis, Atrial septal defect, Hepatosplenomegaly, Coarctation of aorta, Biventri... |
ORPHA:101028 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Double outlet right ventricle, Vertebral fusion, Patent ductus arteriosus, Bicuspi... |
OMIM:618845 |
Pierre Robin Syndrome |
|
Cor pulmonale, Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:261800 |
Sandestig-Stefanova Syndrome |
|
Convex nasal ridge, High palate, Wide nasal bridge, Perimembranous ventricular septal defect, Dec... |
OMIM:618804 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... |
OMIM:613854 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Deep philtrum, S... |
ORPHA:261120 |
Infantile Sialic Acid Storage Disease |
|
Premature birth, Metaphyseal irregularity, Hydrops fetalis, High palate, Hepatomegaly, Anteverted... |
OMIM:269920 |
Burn-Mckeown Syndrome |
|
Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilateral choanal atresia, Abn... |
ORPHA:1200 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Ventricular septal hypertrophy... |
OMIM:618052 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Hype... |
OMIM:253700 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Wide nose, Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Long p... |
ORPHA:477817 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... |
ORPHA:1457 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Short nose, Cle... |
OMIM:614261 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Cantu Syndrome |
|
Patent ductus arteriosus, Thick upper lip vermilion, Congenital hypertrophy of left ventricle, Lo... |
OMIM:239850 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Hypogonadism, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, ... |
OMIM:608540 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Atrial Fibrillation, Familial, 6 |
|
Left atrial enlargement, Left ventricular hypertrophy |
OMIM:612201 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... |
OMIM:604169 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Advanced ossification of carpal bones, Short ribs, Fetal ascites... |
OMIM:215045 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Hypothyroidism, Anemia, Long philtrum, Perimembranous ventricular septa... |
OMIM:608104 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Mulibrey Nanism |
|
Wide nose, Dental malocclusion, Enamel hypoplasia, Hydrops fetalis, Pericardial constriction, Wid... |
OMIM:253250 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Abnormal heart morphology, Congenital malformation of the gre... |
ORPHA:294975 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:614676 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ... |
ORPHA:3426 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... |
OMIM:601493 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, High palate, Prominent nose, Wide nasal bridge, Perimembranous ventricular sep... |
OMIM:618205 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Thick upper lip vermilion, Dental malocclusion, Perimembranous ventricu... |
ORPHA:363444 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular se... |
OMIM:615248 |
Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Ventricular septal defect, Decreased fetal movement, Tongue fasciculatio... |
OMIM:253300 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect |
OMIM:619170 |
Classic Multiminicore Myopathy |
|
High palate, Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Spinal ri... |
ORPHA:324604 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defec... |
ORPHA:3384 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Wide nasal bridge, Short femur, Pleural effusion, Hypertrophic cardiomyopathy, Cl... |
OMIM:616897 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Wide nasal bridge, Smooth philtrum, Patent foramen ovale, Double outlet right ventricle, Prominen... |
OMIM:618316 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Scoliosis, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Convex nasal ridge, Arteriovenous malformation, Abnormal aortic arch morphology, Downturned corne... |
ORPHA:1110 |
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss |
|
Long nasal bridge, Muscular ventricular septal defect, Macrocytic anemia, Cryptorchidism |
OMIM:620071 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, High palate, Limb hypertonia, Wide nasal bridge, Pericardial effusion, Decreased ... |
OMIM:620070 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613876 |
17Q21.31 Microduplication Syndrome |
|
High palate, Toe syndactyly, Short philtrum, Clinodactyly of the 5th finger, Short nose, Delayed ... |
ORPHA:217340 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Long philtrum, Wide nasal bridge, Atrial septal de... |
ORPHA:401935 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect, Notched primary central incisor, Hydrocele testis |
OMIM:620062 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Cleft upper lip, Ventricular septal defect, Perimembranous ventricular septal defect, Secundum at... |
OMIM:600987 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Kyphosis, Abnormal mitral valve morphology, Abnormality of the pulmona... |
ORPHA:1354 |
Ring Chromosome 8 Syndrome |
|
Polyhydramnios, Short nose, Abnormal palate morphology, Anteverted nares, Deviation of finger |
ORPHA:1450 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Abnormal vertebral morphology, Short nose, Thin upper lip vermilion, Short neck, Anteverted nares... |
ORPHA:2015 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Short nose, Narrow mouth, Scoliosis, Thin vermilion border, A... |
ORPHA:2370 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, High palate, Conotruncal defect, Abnormality of the calcaneus, Hyp... |
ORPHA:40366 |
8P23.1 Duplication Syndrome |
|
Wide nose, Long philtrum, Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot, ... |
ORPHA:251076 |
Chromosome 9P Deletion Syndrome |
|
Patent ductus arteriosus, Narrow palate, Ventricular septal defect, High palate, Perimembranous v... |
OMIM:158170 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism, Left ventricular hypertrophy, Oligohydramnios, Myopathy, Hepatomegaly, Cardiomega... |
OMIM:617713 |
Fetal Trimethadione Syndrome |
|
High palate, Ventricular septal defect, Atrial septal defect, Short nose, Depressed nasal bridge,... |
ORPHA:1913 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Gm1-Gangliosidosis, Type I |
|
Splenomegaly, Hydrops fetalis, Depressed nasal ridge, Kyphosis, Vacuolated lymphocytes, Dilated c... |
OMIM:230500 |
Fetal Gaucher Disease |
|
Fetal akinesia sequence, Hydrops fetalis, High palate, Decreased fetal movement, Intracranial hem... |
ORPHA:85212 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly, Abnormality of limb bone morphology |
ORPHA:2204 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Left ventricular hypertrophy... |
OMIM:615355 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Ventricular septal defect, Thick lower lip vermilion, Short philtrum, Atrial septa... |
OMIM:608227 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Long philtrum, Wide nasal bridge, Widely spaced teeth, Thickened aortic valve cusp... |
OMIM:619698 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613874 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular hypertrophy, Short nose, Antev... |
OMIM:618619 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, High palate, Small hand, Clinodactyly, Short nose, Short foot, Macrodontia |
OMIM:300577 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Long philtrum, Short foot, Multiple rib fractures, Short nose, A... |
ORPHA:93299 |
Achondrogenesis Type 1B |
|
Polyhydramnios, Hydrops fetalis, Long philtrum, Short nose, Anteverted nares, Abnormal rib morpho... |
ORPHA:93298 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Polyhydramnios, Asplenia, Butterfly vertebrae, Nonimmune hydrops f... |
OMIM:265380 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Recurrent viral upper respiratory tract infections, Short philtrum, At... |
OMIM:616898 |
Congenital Gerbode Defect |
|
Pedal edema, Bacterial endocarditis, Vascular dilatation, Ventricular septal defect, Perimembrano... |
ORPHA:99095 |
Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613694 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Camptodactyly, Cleft palate, Short palm, Narrow greater sciatic notch,... |
OMIM:228520 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Wi... |
OMIM:619717 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Hyperlordosis, Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventr... |
OMIM:613156 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular septal defect, Vertebral s... |
ORPHA:1166 |
Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Kyphosis, Elbow flexion contracture, Left ventricular hypertrophy, EMG:... |
OMIM:619040 |
Fetal Minoxidil Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Cryptorchidism |
ORPHA:1918 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Esophageal atresia, Fused cervical vertebrae, Butterfly vertebrae, Submucous cleft har... |
OMIM:619227 |
Cardiomyopathy, Dilated, 2D |
|
Patent foramen ovale, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Muscular ventricular... |
OMIM:619371 |
Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Anemia, Hydrops fetalis, Oligohydramnios, Pericarditis, Hepatomegaly, Preeclampsi... |
ORPHA:163596 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Genu varum, Hydrops fetalis, Metaphyseal cupping, Abnormal carpal morphology, Sho... |
ORPHA:85166 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertroph... |
OMIM:618815 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Pericardial effusion, Transient isch... |
OMIM:115197 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Hydrops fetalis, Decreased fetal movement, Hepatosplenomegaly, Edema, Skeletal mu... |
OMIM:232500 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia |
OMIM:200900 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
High palate, Short philtrum, Atrial septal defect, Muscular ventricular septal defect, Broad nasa... |
OMIM:618354 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Short neck, Hypoparathyroidism, Depressed nasal ti... |
OMIM:618223 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Hydrops fetalis, Hepatomegaly, Ascites, Pulmonic stenosis |
OMIM:619433 |
Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Increased placental thickness, Nonimmune hydrop... |
ORPHA:1041 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Patent foramen ovale, Left aortic arch with cervical origin of the right subclav... |
OMIM:212093 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Everted l... |
OMIM:249670 |
Paget Disease Of Bone 6 |
|
Coronary artery atherosclerosis, Left ventricular hypertrophy |
OMIM:616833 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Autosomal Recessive Centronuclear Myopathy |
|
Hyperlordosis, Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotroph... |
ORPHA:169186 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Mmep Syndrome |
|
Cryptorchidism, Orofacial cleft, Ventricular septal defect, Median cleft lip |
ORPHA:3434 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Oral synechia, Atrial septal defect, Scoliosi... |
ORPHA:1388 |
Neuraminidase Deficiency |
|
Hydrops fetalis, Skeletal muscle atrophy, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Asc... |
OMIM:256550 |
Catel-Manzke Syndrome |
|
Cleft upper lip, Pierre-Robin sequence, Ventricular septal defect, High palate, Narrow naris, Bif... |
OMIM:616145 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Fetal cystic hygroma |
OMIM:257350 |
Boomerang Dysplasia |
|
Polyhydramnios, Aplasia/Hypoplasia of the fibula, Hydrops fetalis, Decreased response to growth h... |
ORPHA:1263 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Wide nose, High palate, Ventricular septal defect, Wide nasal bridge, Low insertio... |
OMIM:619995 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Asplenia, Unbalanced atrioventricular ca... |
OMIM:619657 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Wide mouth, Short nose, Delayed eruption of permanent teeth, Anteverte... |
OMIM:618506 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Polyhydramnios, Anemia, Hydrops fetalis, Thrombocytopenia, Hepatomegaly... |
ORPHA:2123 |
Sotos Syndrome |
|
Patent ductus arteriosus, Enlarged naris, Narrow palate, Ventricular septal defect, High palate, ... |
OMIM:117550 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Abnormal nostril morphology, Ventricular septal defect, Anal atresia, Atrial sept... |
ORPHA:3469 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Hydrops fetalis, Short middle phalanx of the 4th finger, Radioulnar synostosis, Hydrocele... |
OMIM:616738 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Long philtrum, Atrial septal defect, Short nose, Tetralogy of Fallot |
OMIM:300887 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Hepatomegaly, Ascites, Pulmoni... |
ORPHA:2414 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Trisomy 1Q |
|
Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Wide nose, Ve... |
ORPHA:261344 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Kyphosis, Perimembranous ventricular septal defect, Thick lower lip ve... |
OMIM:301040 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Hydrops fetalis, Abnormality of the pulmonary artery, Atrial septal def... |
ORPHA:90308 |
Scimitar Syndrome |
|
Truncus arteriosus, Hypoplasia of the diaphragm, Abnormal vena cava morphology, Abnormal hemidiap... |
ORPHA:185 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Tetralogy Of Fallot |
|
Abnormal nasal morphology, Thin vermilion border, Tetralogy of Fallot, Cryptorchidism |
ORPHA:3303 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Ventricular septal defect, Fused cervical vertebrae, Short neck, Scoliosis, Clef... |
OMIM:214300 |
Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Long philtrum, Short nose, Anteverted nares, Thickened nuchal sk... |
ORPHA:932 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Hepatomegaly |
OMIM:619048 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Trisomy 13 |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Kyphosis, Long philtrum, At... |
ORPHA:3378 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Pineal cyst, Left ventricular noncompaction, Submucous cleft soft palate, Deviated nasal septum, ... |
OMIM:300967 |
Fixed Subaortic Stenosis |
|
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Ascending tubula... |
ORPHA:3092 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, High palate, Ventricular septal defect, Thick lower lip vermilion, Anal ... |
OMIM:612946 |
Even-Plus Syndrome |
|
Vertebral clefting, Patent foramen ovale, High palate, Depressed nasal ridge, Hypodontia, Anal at... |
OMIM:616854 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Polyhydramnios, Narrow palate, Jejunal atresia, T... |
OMIM:612949 |
Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Ventricular septal defect, Common atrium, Polysplenia, Aortopul... |
OMIM:208530 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... |
OMIM:619313 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Mitral stenosis, Mitral valve p... |
OMIM:616564 |
Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
Lymphatic Malformation 7 |
|
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial sept... |
OMIM:617300 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Nephrogenic diabetes insipidus, Arthrogryposis m... |
OMIM:208085 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Volvulus, Decreased testicular size, Left ventricular hypertrophy, Sple... |
ORPHA:335 |
Atrial Fibrillation, Familial, 10 |
|
Left ventricular hypertrophy, Left atrial enlargement, Right ventricular dilatation, Stroke |
OMIM:614022 |
Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Cleft palate, Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Polyhydramnios, Hydrops fetalis, High palate, Cen... |
OMIM:255320 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hepatosplenomegaly, Gingival overgrowth, Splenomegaly, Abnormal form of ... |
ORPHA:354 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Diabetes mellitus, Stroke-like episode, Myopathy, Ragged-red muscle... |
OMIM:540000 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Abnormal morphology of the chordae tendinae of the mitral valve, Left... |
ORPHA:75566 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Narrow mouth, Anteverted nares |
ORPHA:1355 |
Verheij Syndrome |
|
Vertebral fusion, Long philtrum, Abnormal cardiac septum morphology, Wide nasal bridge, Short nos... |
OMIM:615583 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Spinal canal stenosis, Tendon r... |
ORPHA:85451 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... |
OMIM:613426 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Vascular dilatation, Decreased response to growth hormone stimulation test, Long philtrum, Wide n... |
OMIM:616430 |
Congenital Disorder Of Glycosylation, Type Il |
|
Long philtrum, Abnormal cardiac septum morphology, Kyphosis, Pericardial effusion, Wide mouth, De... |
OMIM:608776 |
Pituitary Adenoma 1, Multiple Types |
|
Increased circulating prolactin concentration, Left ventricular hypertrophy, Prolactinoma, Pituit... |
OMIM:102200 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect, Hepatomegaly |
OMIM:614876 |
King-Denborough Syndrome |
|
High palate, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Ventricular septal... |
OMIM:619542 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Pedal edema, Atrial septal defect, Muscular ventricular septal defect, Card... |
ORPHA:439 |
Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613251 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Holoprosencephaly 13, X-Linked |
|
Vertebral clefting, Patent foramen ovale, Double outlet right ventricle, Patent ductus arteriosus... |
OMIM:301043 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, High palate, Ventricular septal defect, Long philtrum, Esophageal ... |
ORPHA:2209 |
Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Howell-Jo... |
OMIM:613759 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, High palate, ... |
ORPHA:99776 |
Congenital Tricuspid Valve Dysplasia |
|
Premature birth, Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid val... |
ORPHA:555874 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Asplenia, Hepatomegal... |
OMIM:306955 |
Oculoauriculofrontonasal Syndrome |
|
Underdeveloped nasal alae, Wide nose, Ventricular septal defect, Narrow mouth, Scoliosis, Cleft l... |
ORPHA:398156 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Kyphosis, Lymphedema, Predo... |
OMIM:153400 |
Noonan Syndrome 12 |
|
Polyhydramnios, Decreased response to growth hormone stimulation test, Ventricular septal defect,... |
OMIM:618624 |
Meckel Syndrome, Type 7 |
|
Patent ductus arteriosus, Pancreatic cysts, Atrial septal defect, Hepatosplenomegaly, Oligohydram... |
OMIM:267010 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrops fetalis, Hypoplastic pubic bone, Hypoplastic ilia, Wide nasal bridge, Short ribs, Short l... |
ORPHA:1865 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Ventricular septal defect, Decreased fetal moveme... |
OMIM:616816 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Pulmonary artery stenosis, Double ou... |
OMIM:600001 |
Acromicric Dysplasia |
|
Long philtrum, Short metacarpal, Fifth metacarpal with ulnar notch, Thick lower lip vermilion, Sm... |
ORPHA:969 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Abnormal nasal morphology, Depress... |
ORPHA:83473 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lumbar vertebrae, Flexion contracture, Hydrops fetalis, Kyphosis, Widely spac... |
OMIM:253220 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Hypertrophic card... |
OMIM:608751 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Underdeveloped nasal alae, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal def... |
ORPHA:2516 |
Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Esophageal vari... |
OMIM:616028 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Polyhydramnios, Hypoplastic iliac wing, Hydrops fetalis, Long philtrum, Short tu... |
OMIM:200610 |
Mungan Syndrome |
|
Perimembranous ventricular septal defect, Megaduodenum, Pulmonic stenosis, Intestinal pseudo-obst... |
OMIM:611376 |
Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Double outlet right ventricle, Wide nose, High palate, Ventricular septal d... |
OMIM:616652 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Hydrops fetalis, High palate, Short ribs, Short lingual frenulum, Microdontia, Short... |
OMIM:614091 |
Cardiomyopathy, Dilated, 1V |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613697 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Oligohydramnios |
OMIM:616733 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Arthrogryposis multiplex congenita, Hepatomegaly, Right ventricular hy... |
OMIM:613404 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... |
OMIM:614980 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Hyperlordosis, Cardiomegaly, Lower limb muscle weakness, Calf muscle hypertrophy, Spinal rigidity... |
ORPHA:268 |
Sialidosis Type 2 |
|
Pedal edema, Flexion contracture, Hydrops fetalis, Kyphosis, Skeletal muscle atrophy, Hepatomegal... |
ORPHA:87876 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of car... |
OMIM:269250 |
Alpha-Thalassemia |
|
Anemia, Hydrops fetalis, Hemolytic anemia, Hypersplenism, Cholelithiasis, Abnormal hemoglobin, Sp... |
ORPHA:846 |
Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... |
ORPHA:99094 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Wide nasal bridge, Hypoplastic left atrium, Congenital diaphragmatic h... |
OMIM:615524 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Wide nasal bridge, Delayed eruption of teeth, Pericardial effusion, Thyroid lymphangiectasia, Cam... |
OMIM:235510 |
Methimazole Embryofetopathy |
|
Polyhydramnios, Abnormal aortic morphology, Hypothyroidism, Ventricular septal defect, Esophageal... |
ORPHA:1923 |
Lymphatic Malformation 6 |
|
Polyhydramnios, Hypothyroidism, Lymphedema, Nonimmune hydrops fetalis, Atrial septal defect, Hydr... |
OMIM:616843 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema |
OMIM:618773 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Widely-spaced incisors, Ventricular septal defect, Wide mouth, Supernumerary nipple, Scoliosis, I... |
OMIM:617635 |
Mogs-Cdg |
|
Wide nose, Polyhydramnios, Hypothyroidism, Thoracic scoliosis, High palate, Pulmonary edema, Left... |
ORPHA:79330 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Microd... |
OMIM:601005 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Atrioventricular canal defect, Genu valgum, Overhanging nasal tip, Short philtrum,... |
OMIM:619142 |
Bronchopulmonary Dysplasia |
|
Premature birth, Right ventricular hypertrophy |
ORPHA:70589 |
Maxillonasal Dysplasia |
|
Vertebral clefting, Abnormal nostril morphology, Patchy distortion of vertebrae, Depressed nasal ... |
ORPHA:1248 |
Roifman Syndrome |
|
Premature birth, Biconvex vertebral bodies, Underdeveloped nasal alae, Irregular vertebral endpla... |
OMIM:616651 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Hydrops fetalis, Flaring of rib cage, Short ribs, Bowing of the arm, Hypoplasia o... |
OMIM:200600 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Polyhydramnios, Enamel hypoplasia, Enterocolitis, Ventricular septal defect, Jejunal atresia, Hyp... |
OMIM:243150 |
Lowry-Maclean Syndrome |
|
Convex nasal ridge, Diaphragmatic eventration, Delayed eruption of teeth, Abnormal heart morpholo... |
OMIM:600252 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... |
OMIM:613870 |
3C Syndrome |
|
Atrioventricular canal defect, Ectopic anus, Wide nasal bridge, Short neck, Cleft palate, Orofaci... |
ORPHA:7 |
Lymphatic Malformation 12 |
|
Polyhydramnios, Lymphedema, Fetal pleural effusion, Nonimmune hydrops fetalis, Hydrocele testis, ... |
OMIM:620014 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Hydrops fetalis, Hypoplastic ilia, Short ribs, Breech presentation, Edema |
OMIM:600972 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Cleft upper lip, Ventricular septal defect, Mi... |
OMIM:612561 |
Tangier Disease |
|
Atherosclerosis, Left ventricular hypertrophy, Facial diplegia, Hepatomegaly, Coronary artery ath... |
OMIM:205400 |
German Syndrome |
|
Camptodactyly of finger, High palate, Abnormal cardiac septum morphology, Lymphedema, Wide nasal ... |
ORPHA:2077 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Perimembranous ventricular septal defect, Secundum atrial septal defect, Short nose, S... |
OMIM:608779 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
15Q14 Microdeletion Syndrome |
|
Convex nasal ridge, Ventricular septal defect, Kyphosis, Long philtrum, Short philtrum, Atrial se... |
ORPHA:261190 |
Phenobarbital Embryopathy |
|
Unilateral cleft lip, Tetralogy of Fallot, Abnormal nasal base norphology, Abnormal mitral valve ... |
ORPHA:1919 |
Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
9q subtelomeric deletion syndrome |
|
Protruding tongue, Abnormal heart morphology, Anteverted nares, Short nose |
DECIPHER:52 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, High palate, Long philtrum, Kyphosis, Generalized limb muscle atrophy, Short nose, Delaye... |
ORPHA:2598 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Asplenia, Nasal congestion, Polysplenia, Atrial situs ambiguous, N... |
ORPHA:244 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Asplenia, Left atrial isomerism, Bi... |
OMIM:605376 |
Feingold Syndrome 2 |
|
Intestinal atresia, Ventricular septal defect |
OMIM:614326 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Long philtrum, Decreased circulating osteocalcin level, Short nose, Central diabetes i... |
OMIM:125700 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Wide nasal bridge, Camptodactyly, Butterfly vertebrae, Short neck, Smooth philtrum, Cleft palate,... |
OMIM:611209 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Peripheral pulmonary artery stenosis, Smooth philtrum, Thin lower lip vermilion, Ging... |
ORPHA:280633 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect |
ORPHA:2515 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Asymmetric septal hypertrophy, Ventric... |
OMIM:608758 |
Maxillonasal Dysplasia, Binder Type |
|
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Short nose, Short colume... |
OMIM:155050 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Ectopic anus, Anal atresia, Abnormal sacrum morphology, Abnormal verte... |
ORPHA:2345 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Nonimmune hydrops fetalis, Cardiomegaly, Premature ... |
OMIM:618838 |
Stickler Syndrome Type 1 |
|
Long philtrum, Mitral valve prolapse, Short nose, Platyspondyly, Cleft palate, Abnormality of ver... |
ORPHA:90653 |
Woods Syndrome |
|
Ventricular septal defect, Wide nasal bridge, Supernumerary nipple, Thin vermilion border, Low ha... |
OMIM:615236 |
Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Ventricular septal defect, Bifid thoracic vertebrae, Bifid nose, Coarctation of ... |
ORPHA:268249 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Ventricular sep... |
ORPHA:1926 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Deep philtrum, Thick lower lip vermilion, Short nose, Hypertrophic cardiomyopathy, Abnormal inter... |
ORPHA:2701 |
Codas Syndrome |
|
Ventricular septal defect, Delayed eruption of teeth, Abnormality of dental morphology, Short nos... |
ORPHA:1458 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Depressed nasal ridge, Aplasia/Hypoplasia of the thymus, In... |
ORPHA:1727 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Long philtrum, Short nose, Downturned corners of mouth, Narrow mouth, Thin... |
ORPHA:1906 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Butterfly vertebrae, Hypoplastic cervical vertebrae, Pulmonary artery steno... |
ORPHA:79345 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... |
ORPHA:284169 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Asymmetric septal hypertrophy |
OMIM:613838 |
Pulmonary Hypertension, Primary, 5 |
|
Right ventricular hypertrophy |
OMIM:265400 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:444013 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Patent foramen ovale, Vascular dilatation, Hypoplasia of the thymus, Long philtrum, Morgagni diap... |
OMIM:613177 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Apert Syndrome |
|
Dental malocclusion, Choanal stenosis, Narrow palate, Ventricular septal defect, Ectopic anus, De... |
OMIM:101200 |
Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, High palate, Hip contracture, Bifid uvula, Camptodactyly of toe, Clinoda... |
OMIM:619110 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Hypoplastic left heart, Cleft palate |
ORPHA:2476 |
Alg12-Cdg |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Wide nose, B lymphocytopenia, Cam... |
ORPHA:79324 |
Microform Holoprosencephaly |
|
Hypothyroidism, Maternal diabetes, Short philtrum, Duodenal atresia, Panhypopituitarism, EMG: myo... |
ORPHA:280200 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:615297 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Down Syndrome |
|
Atrioventricular canal defect, Hypothyroidism, Pulmonary artery stenosis, Myeloproliferative diso... |
OMIM:190685 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hypoplasia of the thymus, Perianal abscess, Wide nasal bridge, Secundum atrial septal defect, Hep... |
OMIM:612541 |
Thomas Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip, Oligohydramnios |
ORPHA:3316 |
Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Short nose, Thin upper lip vermilion, Anteverted nares, Smooth philtrum |
ORPHA:46 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Hydrops fetalis, Lymphedema, Clubbing of toes, Oligohydramnios, Abnormal intest... |
ORPHA:1318 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ... |
OMIM:619343 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Hyposmia, Atrial septal defect... |
OMIM:615996 |
Clark-Baraitser Syndrome |
|
High palate, Long philtrum, Wide mouth, Clinodactyly, Short philtrum, Short nose, Thin upper lip ... |
OMIM:617752 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Anemia, Hydrops fetalis, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal e... |
ORPHA:766 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... |
OMIM:616276 |
Trigonocephaly With Short Stature And Developmental Delay |
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Convex nasal ridge, High palate, Ventricular septal defect, Wide nasal bridge, Broad alveolar ridges |
OMIM:314320 |
Kallmann Syndrome-Heart Disease Syndrome |
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Midgut malrotation, Double outlet right ventricle, Total anosmia, Short lingual frenulum, Decreas... |
ORPHA:2326 |
Ogden Syndrome |
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Thick upper lip vermilion, Everted upper lip vermilion, Wide nasal bridge, Secundum atrial septal... |
OMIM:300855 |
Pulmonary Hypertension, Primary, 1 |
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Arterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Pulmonary aterial intimal fibro... |
OMIM:178600 |
Mgat2-Cdg |
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Patent ductus arteriosus, Hydrops fetalis, Convex nasal ridge, Ventricular septal defect, Kyphosi... |
ORPHA:79329 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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Patent foramen ovale, Overhanging nasal tip, Ventricular septal defect, Long philtrum, Bulbous no... |
OMIM:618494 |
Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Cataract, Renal insufficiency |
OMIM:615995 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Patent ductus arteriosus, Ventricular septal defect, Sideroblastic anemia, Oligohydramnios, Throm... |
OMIM:617021 |
Filippi Syndrome |
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Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Hypodontia, Microdontia,... |
OMIM:272440 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Underdeveloped nasal alae, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft p... |
OMIM:611867 |
Congenital Enterovirus Infection |
|
Polyhydramnios, Leukopenia, Hydrops fetalis, Anemia, Neutropenia, Abnormal macrophage morphology,... |
ORPHA:292 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Ventricular septal defect, Oligodontia, Atrial septal defect, Thin uppe... |
OMIM:618330 |
Testicular Anomalies With Or Without Congenital Heart Disease |
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Testicular dysgenesis, Tetralogy of Fallot, Abnormality of thyroid physiology, Cryptorchidism |
OMIM:615542 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Cardiomyopathy |
OMIM:619003 |
Lymphangiectasia, Pulmonary, Congenital |
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Polyhydramnios, Pedal edema, Wide nasal bridge, Pulmonary lymphangiectasia, Nonimmune hydrops fet... |
OMIM:265300 |
Gaucher Disease, Perinatal Lethal |
|
Premature birth, Polyhydramnios, Splenomegaly, Desquamation of skin soon after birth, Anemia, Eve... |
OMIM:608013 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly, Gingival overgr... |
OMIM:619148 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Burn-Mckeown Syndrome |
|
Underdeveloped nasal alae, Cleft upper lip, Ventricular septal defect, Bilateral choanal atresia/... |
OMIM:608572 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Prominent occiput, Platybasia, Frontal bossing, Cleft palate |
ORPHA:217 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Depressed nasal ridge, Pericardial effusion, Enlarged kidney, Short nose, Short ... |
OMIM:613885 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Convex nasal ridge, High palate, Broad secondary alveolar ridge, Ventricular septal defect, Wide ... |
ORPHA:3369 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corners of mouth, Cleft palate |
ORPHA:94066 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myocardial fibrosis |
OMIM:613873 |
Holzgreve Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip, Hand polydactyly |
OMIM:236110 |
Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Depressed nasal bridge... |
OMIM:617616 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia of the nose, Vertebral segmentation defect, Median cleft lip, Tetralo... |
ORPHA:3186 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:614654 |
Diprosopus |
|
Non-midline cleft lip, Abnormality of the nose, Abnormal cardiac septum morphology, Cleft palate |
ORPHA:1681 |
Aortic Arch Interruption |
|
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Pedal edema, Abnor... |
ORPHA:2299 |
8Q12 Microduplication Syndrome |
|
Long philtrum, Ventricular septal defect, Wide nasal bridge, Atrial septal defect, Everted lower ... |
ORPHA:228399 |
Congenital Alveolar Capillary Dysplasia |
|
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Asplenia, Absen... |
ORPHA:210122 |
Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Long philtrum, Beaking of vertebral bodies T12-L3, Macroglossia, Hypoplastic ver... |
ORPHA:79255 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, High palate, Ventricular septal defect, Kyphosis, Camptodactyly, Anal atres... |
OMIM:617602 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Premature thelarche, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:371428 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Downturned corners of ... |
OMIM:618974 |
Familial Dilated Cardiomyopathy |
|
Coronary artery atherosclerosis, Left ventricular hypertrophy, Right ventricular dilatation |
ORPHA:217607 |
Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Enamel hypoplasia, Pierre-Robin sequence, Ventricular septal defect, Wide nasal br... |
OMIM:619980 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Anemia, Ventricular septal defect, Wide mouth, De... |
OMIM:606003 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ascending t... |
OMIM:270100 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Prominent nose, Wide nasal bridge, Decre... |
OMIM:614886 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Cardiospondylocarpofacial Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Long philtrum, Wide mouth, Decreased testicular ... |
OMIM:157800 |
Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydrocele testis, Prominent super... |
OMIM:153100 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Polyhydramnios, Fetal akinesia sequence, Flexion contracture, Abnormal muscle glycogen content, D... |
ORPHA:367 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Thoracolumbar scoliosis, Aortic root aneurysm, High palate, Mitral valve prolapse, Left ventricul... |
ORPHA:230851 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Ventricular septal defect, Short neck, Cleft palate, Abnormality of... |
OMIM:609654 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pedal edema, Edema of the dorsum of feet, Chronic hemolytic anemia, Abnormal jugular vein morphol... |
ORPHA:275766 |
Non-Distal Trisomy 10Q |
|
Convex nasal ridge, High palate, Short nose, Everted lower lip vermilion, Depressed nasal bridge,... |
ORPHA:1695 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Supernumerary nipple, Patent foramen ovale, Prominent nose, Ventricular septal defect, Left ventr... |
ORPHA:466791 |
Peripartum Cardiomyopathy |
|
Pedal edema, Anemia, Abnormality of thyroid physiology, Abnormal atrioventricular valve morpholog... |
ORPHA:563 |
Alg9-Cdg |
|
Convex nasal ridge, Pericardial effusion, Abnormal left ventricular outflow tract morphology, Bif... |
ORPHA:79328 |
X-Linked Intellectual Disability, Hedera Type |
|
Hypomimic face, Left ventricular hypertrophy, Scoliosis |
ORPHA:93952 |
Ververi-Brady Syndrome |
|
Wide nose, High palate, Prominent nose, Wide mouth, Everted lower lip vermilion, Thin upper lip v... |
OMIM:617982 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Long philtrum, Coxa vara, Hip dysplasia, Preaxial foot polydacty... |
ORPHA:1988 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Delayed eruption of teeth, Microdontia, Clinodactyly of the 5th finger, Short nose, ... |
OMIM:619736 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrops fetalis, Aplastic clavicle, Short ribs, Atrial septal defect, Depressed n... |
OMIM:616546 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lumbar vertebrae, Hydrops fetalis, Lymphedema, Arteriovenous malformation, Sh... |
ORPHA:584 |
Mullegama-Klein-Martinez Syndrome |
|
Prominent nose, Long philtrum, Abnormal cardiac septum morphology, Wide nasal bridge, Short philt... |
OMIM:301022 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Anal atresia, Atrial septal defect, Conge... |
OMIM:309801 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, High palate,... |
ORPHA:251071 |
Tyshchenko Syndrome |
|
Premature birth, Polyhydramnios, Narrow palate, Ventricular septal defect, High palate, Supernume... |
OMIM:615102 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Coarctation of aorta, Bro... |
OMIM:217085 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Ascending tubular aorta aneurysm, Truncus arteriosus, Microdontia, Bifid uvula, Camptodactyly, Sh... |
OMIM:612474 |
Coffin-Siris Syndrome 7 |
|
Wide nose, Patent foramen ovale, Polyhydramnios, Convex nasal ridge, Ventricular septal defect, W... |
OMIM:618027 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Hydrops fetalis, Aplastic clavicle, Long philtrum, Natal tooth, Short ribs, Short... |
ORPHA:50945 |
Pituitary Gigantism |
|
Increased circulating prolactin concentration, Type II diabetes mellitus, Left ventricular hypert... |
ORPHA:99725 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty, Microdontia, Atrial septal defect, Bilateral triphalangeal thumbs, Short dist... |
OMIM:619356 |
Hennekam Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Pericardial effusion, Toot... |
ORPHA:2136 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Cervical hemivertebrae, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal def... |
ORPHA:508498 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormalities, Hypertro... |
OMIM:615418 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidi... |
OMIM:618652 |
Miller-Dieker Syndrome |
|
Polyhydramnios, Clinodactyly of the 5th finger, Abnormal upper lip morphology, Short nose, Anteve... |
ORPHA:531 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Polyhydramnios, Leukopenia, Ventricular septal defect, Pulmonic st... |
OMIM:301056 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Normochromic microcytic anemia, Diaphragmatic eventration, Generalized amyotrophy... |
ORPHA:66634 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Iliac crest serration, Vascular dilatation, Metaphyseal cupping, Deep philtrum, Short ... |
OMIM:613320 |
Diamond-Blackfan Anemia 7 |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Neutropenia, Secundum atrial... |
OMIM:612562 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Scoliosis, Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Ventricular septal defect, Long philtrum, Natal tooth, Wide nasal bridge, H... |
OMIM:145420 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Ventricular septal defect, Bilateral cleft lip, Short femur, Bilateral cleft pal... |
OMIM:601357 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Microdontia, Vertebral segmentation defect, Atrial septal defect, Short no... |
ORPHA:1915 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Skeletal myopathy, Left ventricular hypertrophy, Noncompaction cardiomy... |
ORPHA:3208 |
17P13.3 Microduplication Syndrome |
|
Wide nose, High palate, Clinodactyly of the 5th finger, Short nose, Congenital hip dislocation, N... |
ORPHA:217385 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, Decreased circulating renin level, Primary hyper... |
OMIM:615474 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract, Renal tubular dysfunction |
ORPHA:1380 |
Synaptic Congenital Myasthenic Syndromes |
|
High palate, Type 1 muscle fiber predominance, Myopathy, Skeletal muscle atrophy, Type 2 muscle f... |
ORPHA:98915 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Intracranial... |
ORPHA:251274 |
Cataract 47 |
|
Glycosuria, Cataract, Microcornea |
OMIM:612018 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Short long bone, Short nose, Hepatosplenomegaly, Brachydactyly |
ORPHA:221054 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Gingival fibromatosis, Median cleft lip and palate, Short nose, Anteverted... |
ORPHA:1832 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Ventricular septal defect, Wide nasal bridge, Depressed nasal bridge, Cryptorchid... |
ORPHA:2256 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, High palate, Ventricular septal defect, Wide mouth, Widely spaced teeth, Wi... |
ORPHA:369891 |
Frank-Ter Haar Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Dental malocclusion, High palate, Ventricula... |
OMIM:249420 |
Chung-Jansen Syndrome |
|
High palate, Long philtrum, Tapered finger, Meconium stained amniotic fluid, Hip dysplasia, Short... |
OMIM:617991 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... |
OMIM:126320 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Long philtrum, Ventricular septal... |
OMIM:619189 |
Charge Syndrome |
|
Polyhydramnios, Hypothyroidism, Gonadotropin deficiency, Secundum atrial septal defect, Parathyro... |
OMIM:214800 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism, Muscular ventricular septal defect, Intrinsic hand muscle atrophy, Wide nasal bridge |
OMIM:618569 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Patent foramen ovale, Hyperlordosis, Convex nasal ridge, Ventricular se... |
OMIM:618870 |
Viss Syndrome |
|
Aortic tortuosity, Polyhydramnios, Hypothyroidism, Ascending tubular aorta aneurysm, Bifid tongue... |
OMIM:619472 |
Rubinstein-Taybi Syndrome 1 |
|
Polyhydramnios, Flexion contracture, Premature thelarche, Convex nasal ridge, Wide nasal bridge, ... |
OMIM:180849 |
Periventricular Nodular Heterotopia 7 |
|
Knee flexion contracture, Pierre-Robin sequence, Ventricular septal defect, Dental crowding, Elbo... |
OMIM:617201 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Convex nasal ridge, Tibial bowing, Nonimmune hydrops fetalis, Abnormal pelvi... |
OMIM:166210 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Cleft soft palate, Ascending a... |
OMIM:619503 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Kyphosis, Long philtrum, Wide n... |
OMIM:617061 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pyloric stenosis, Camptodactyly, Arthrogryposis multiplex congenita, A... |
OMIM:614262 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, 2-5 finger cutaneous syndactyly, Short philtrum, Sh... |
OMIM:601224 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Capitate-hamate fusion, Short metacarpal, Short long bone, Hip dysplasia,... |
OMIM:614078 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Wide nasal bridge, Exaggerated median tongue furrow, Supernumerary nipple, Hepato... |
OMIM:312870 |
Distal Trisomy 18Q |
|
Camptodactyly of finger, High palate, Abnormality of dental morphology, Clinodactyly of the 5th f... |
ORPHA:1716 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... |
ORPHA:216694 |
Emanuel Syndrome |
|
Truncus arteriosus, Recurrent sinusitis, Cleft palate, Sacral dimple, Ventricular septal defect, ... |
OMIM:609029 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Bifid tongue, Wide nasal bridge, Camptodactyly, Short neck, Cleft palate, Gingival overgrowth, Sa... |
OMIM:616894 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Aorto-Ventricular Tunnel |
|