Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Br... |
OMIM:601927 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Thoracic scoliosis... |
OMIM:617022 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... |
OMIM:611556 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence, Breech presentation, Cleft pa... |
OMIM:615731 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... |
OMIM:231060 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Single umbilical ... |
ORPHA:3405 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Wide nasal ... |
ORPHA:3304 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Anteverted nares, Nonimmune hydrops fetalis, Polyhydramnios, Adrenal hypoplasia, Hydrops fetalis,... |
OMIM:613124 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Sonoda Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Narrow mouth |
OMIM:270460 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Anteverted nares, Dental crowding, Sandal gap, Short toe, Pierre-Robin ... |
OMIM:617877 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement |
OMIM:115210 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Anomalous origin of left coronary artery ... |
OMIM:618845 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Decreased response to growth hormo... |
OMIM:220210 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy, As... |
ORPHA:295 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Dilated cardiomyopathy, Elb... |
ORPHA:206546 |
Sandestig-Stefanova Syndrome |
|
Decreased fetal movement, Rocker bottom foot, Short neck, Muscular ventricular septal defect, Wid... |
OMIM:618804 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Lymphedema, Short neck, Metaphyseal widening, Thick upper li... |
OMIM:239850 |
14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Exaggerated ... |
ORPHA:261120 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:477817 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac sept... |
ORPHA:294975 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Lumbar hyperlord... |
ORPHA:353 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate |
OMIM:261800 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Ext... |
OMIM:617021 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Anteverted nares, Premature birth, Cardiomegaly, Splenomegaly, Vacuolated lymphocyt... |
OMIM:269920 |
Transaldolase Deficiency |
|
Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Coarctat... |
ORPHA:101028 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Ab... |
OMIM:179613 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Premature birth, Polyhydramnios, Fetal ascites, Micromelia, Squared iliac... |
OMIM:215045 |
Muscle Filaminopathy |
|
Back pain, Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory mus... |
ORPHA:171445 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... |
OMIM:618052 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Abnormal cardiac septum mo... |
ORPHA:1200 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Broad hallux, Sa... |
OMIM:600987 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Right... |
OMIM:253700 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Decreased fetal movement, Edema, Short neck, Cryptorchidism, Patent ductus arterios... |
OMIM:608104 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Prominent nose, Short philtrum, Atrial septal defect, Pulmonary artery at... |
OMIM:618316 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Cardiomegaly, Short neck, Flexion contracture, Hydrops fetalis, Anteverted nares,... |
OMIM:616897 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Cardiomyopathy, Thin ... |
OMIM:608540 |
Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Left atrial enlargement |
OMIM:612201 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal metacarpal morphology, Abnormal form of the vertebral bodies, Abnormal cardiac septum mo... |
ORPHA:2370 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Abnormality of the dentition, Long nose, Carious teeth, Muscular ventricular sep... |
ORPHA:363444 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Abnormal cardiac septum morphology, Scoliosis... |
ORPHA:1937 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Rocker bottom foot, Polyhydramnios, Tapered finger, Pericardial effusio... |
OMIM:620070 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Ventricular septal defect, Clinodactyly, Cleft palate, Atrial septal de... |
OMIM:614261 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect, Adducted thumb, Hydrocele testis, Notched primary central inc... |
OMIM:620062 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ... |
ORPHA:1354 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Wide nose, Dislocation of toes, Left atrial enlargement, ... |
OMIM:300280 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Mulibrey Nanism |
|
Hepatomegaly, Wide nose, Depressed nasal bridge, Dental crowding, Cardiomegaly, Enamel hypoplasia... |
OMIM:253250 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Su... |
ORPHA:3426 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Truncus arteriosus, Prominent nasal bridge, Ventricular ... |
ORPHA:401935 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... |
ORPHA:324604 |
Chromosome 9P Deletion Syndrome |
|
Short neck, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Long toe, Depr... |
OMIM:158170 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Spinal Muscular Atrophy, Type I |
|
Decreased fetal movement, Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy... |
OMIM:253300 |
Snijders Blok-Campeau Syndrome |
|
Prominent nose, Wide nasal bridge, Perimembranous ventricular septal defect, High palate, Widely ... |
OMIM:618205 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se... |
OMIM:615248 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Abnormal limb bone morphology, Hydrops fetalis, Limb ... |
ORPHA:2204 |
8P23.1 Duplication Syndrome |
|
Wide nose, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Adrenal insufficien... |
ORPHA:251076 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic arch morphology, Downtur... |
ORPHA:1110 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Abnormality of the dentition, High palate, Short ph... |
ORPHA:217340 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Anteverted nares, Premature birth, Aplasia... |
ORPHA:40366 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Polyhydramnios, Deviation of finger, Short nose, Abnormal palate morphology |
ORPHA:1450 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Birk-Aharoni Syndrome |
|
Cryptorchidism, Muscular ventricular septal defect, Macrocytic anemia, Long nasal bridge |
OMIM:620071 |
Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Anteverted nares, Polyhydramnios, Micromelia, Abnormal rib morphology... |
ORPHA:93298 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Limb-girdle mu... |
ORPHA:86812 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Exaggerated cupid's bow, Prox... |
OMIM:618619 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613876 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Clinodactyly, Short nose |
OMIM:300577 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Multiple rib fractures, Anteverted nares, Polyhydramnios, Micromelia,... |
ORPHA:93299 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Thickened aortic valve cusp, Hyperlordosis, Diastema, Open bite, Wid... |
OMIM:619698 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Short neck, Cleft palate, Short nose, Abnormal verteb... |
ORPHA:2015 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower... |
OMIM:249670 |
Catel-Manzke Syndrome |
|
Short neck, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Short metacar... |
OMIM:616145 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Cryptorchidism, Ventricular septal defect, Depressed nasal bridge |
ORPHA:1918 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2n... |
ORPHA:1388 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, High palate, Transposition of the great arteri... |
ORPHA:1913 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Polyhydramnios, Micromeli... |
ORPHA:85166 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Decreased fetal movement, Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Wid... |
OMIM:619717 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Mmep Syndrome |
|
Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft, Split foot, Triphal... |
ORPHA:3434 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily sublux... |
OMIM:311895 |
Fetal Gaucher Disease |
|
Decreased fetal movement, Hepatomegaly, Pancytopenia, Depressed nasal bridge, Anteverted nares, F... |
ORPHA:85212 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Short neck, Cryptorchidism, Patent ductus arteriosus, ... |
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, Widely-spaced maxillary cent... |
OMIM:608227 |
Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Hepatomegaly, Abnormal heart valve morphology, Short neck, Splenomeg... |
OMIM:230500 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613874 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Anteverted nares, Exaggerated cupid's bow, Rocker bottom foot, Wide mo... |
OMIM:618506 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept... |
ORPHA:99095 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Sotos Syndrome |
|
Decreased fetal movement, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Br... |
OMIM:117550 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Decreased re... |
ORPHA:1263 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Sacral dimple, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Lon... |
OMIM:619995 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Hydrops fetalis, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites |
OMIM:619433 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent... |
OMIM:228520 |
Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613694 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, At... |
OMIM:265380 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy, Ma... |
OMIM:613156 |
Tetralogy Of Fallot |
|
Abnormal nasal morphology, Cryptorchidism, Thin vermilion border, Clinodactyly of the 5th finger,... |
ORPHA:3303 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Tooth a... |
ORPHA:1166 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Contracture of ... |
OMIM:618223 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ... |
OMIM:115197 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Esophageal atresia, Muscular ventricular septal defect, Submucous cle... |
OMIM:619227 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Narrow mouth, Atria... |
ORPHA:3469 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hemivertebrae, Widely-spaced maxillary central incisors, Depressed nasal bridge, Anteverted nares... |
OMIM:301040 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrops fet... |
OMIM:618815 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Decreased fetal movement, Edema, Polyhydramnios, Esophageal varix, Hydro... |
OMIM:232500 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short thumb, Short middle phalanx of ... |
ORPHA:391646 |
Verheij Syndrome |
|
Thin upper lip vermilion, Vertebral fusion, Anteverted nares, Ventricular septal defect, Broad na... |
OMIM:615583 |
Achondrogenesis |
|
Thickened nuchal skin fold, Anteverted nares, Polyhydramnios, Micromelia, Hydrops fetalis, Long p... |
ORPHA:932 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Hydrops fetalis, Cleft palate, Hydrocele testis, Radioulnar synostosis, Short m... |
OMIM:616738 |
Trisomy 1Q |
|
Wide nose, Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Congenital diaphrag... |
ORPHA:261344 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Houge-Janssens Syndrome 3 |
|
Broad nasal tip, Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal d... |
OMIM:618354 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic ... |
OMIM:619657 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... |
OMIM:212093 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... |
ORPHA:1041 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, Prominent nose, High, narrow palate, Pineal cyst, Short philtrum, ... |
OMIM:300967 |
Nuchal Bleb, Familial |
|
Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Even-Plus Syndrome |
|
Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Dysplasia of the femoral ... |
OMIM:616854 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... |
OMIM:256550 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, A... |
ORPHA:163596 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Jejunal atresia, Polyhydramnios, Tapered finger, High, narrow palate, Narrow palate, Type 1 muscl... |
OMIM:612949 |
Gm1 Gangliosidosis |
|
Depressed nasal ridge, Hydrops fetalis, Abnormal form of the vertebral bodies, Cherry red spot of... |
ORPHA:354 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... |
ORPHA:3378 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ... |
OMIM:617168 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Facial palsy, Congenital diaphragmatic hernia, ... |
OMIM:301022 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusio... |
ORPHA:2414 |
Maternal Phenylketonuria |
|
Anteverted nares, Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresi... |
ORPHA:2209 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Polyhydramnios, Thrombocytopenia, Patent ductus arteriosus, Hydrop... |
ORPHA:2123 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism, Hypoplastic p... |
ORPHA:1865 |
Scimitar Syndrome |
|
Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle,... |
ORPHA:185 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Pedal edema, Atrial septal defect, Pa... |
ORPHA:439 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Clubbing of fingers, Gingival bleeding, Left ventricul... |
ORPHA:335 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Congenital Heart Block |
|
Premature birth, Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edem... |
ORPHA:60041 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Broad nasal t... |
OMIM:615524 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... |
ORPHA:261243 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Thi... |
OMIM:612946 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Wide nose, Ventricular septal defect, Bicuspid aortic valve, Sandal gap... |
OMIM:616652 |
Roifman Syndrome |
|
Downturned corners of mouth, Irregular vertebral endplates, Clinodactyly of the 5th finger, Hepat... |
OMIM:616651 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Ventricular hypertrophy, Hepatomegaly |
OMIM:619048 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Right atrial enlargement, Esophageal vari... |
OMIM:616028 |
Mosaic Trisomy 9 |
|
Polyhydramnios, Micromelia, Asplenia, Short neck, Hemivertebrae, Hydrops fetalis, Finger clinodac... |
ORPHA:99776 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, S... |
OMIM:214300 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Peripheral arteriovenous fistula, Edema, Microcytic anemia, Venous insufficiency, P... |
ORPHA:90308 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... |
OMIM:619313 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Postaxi... |
OMIM:619142 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Noonan Syndrome 12 |
|
Lymphopenia, Ventricular septal defect, Decreased response to growth hormone stimulation test, Po... |
OMIM:618624 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Decreased fetal movement, Facial palsy, Polyhydramnios, Centrally nuclea... |
OMIM:255320 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Underdeveloped nasal alae, Cleft palate, Truncus arteriosus, Short dis... |
OMIM:601355 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Polyhydramnios, Beaded ribs, Bowing of the legs, Micromel... |
OMIM:200600 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers,... |
OMIM:620393 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Diabetes mellitus, Ragged-red muscle fibers, Stroke-like episode, Myopathy, Left ventricular hype... |
OMIM:540000 |
Atrial Fibrillation, Familial, 10 |
|
Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement |
OMIM:614022 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Short neck, Cryptorchidism, Increased nuchal transluc... |
OMIM:616564 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Polyhydramnios, Nonimmune ... |
OMIM:269250 |
Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Oligohydramnios, Hepatospleno... |
OMIM:267010 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal ... |
OMIM:306955 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:616622 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Postaxial hand poly... |
ORPHA:83473 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, High palate, Microdontia, Synda... |
OMIM:614091 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Unilateral cleft lip, Abnormal mit... |
ORPHA:1919 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Decreased circulating osteocalcin level, Long philtrum, Short nose, Central diabetes i... |
OMIM:125700 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Small ... |
ORPHA:969 |
Apert Syndrome |
|
Cutaneous finger syndactyly, Choanal stenosis, Broad distal phalanx of the thumb, Bifid uvula, Sy... |
OMIM:101200 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger sy... |
OMIM:235510 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Spinal canal stenosis, Hypertrophic car... |
ORPHA:85451 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Short neck, High, narrow palate, Cleft pala... |
ORPHA:2516 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Hypoplastic ilia, Breech presentation, Micromelia, Hydrops fetalis, Short ... |
OMIM:600972 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Decreased fetal movement, Depressed nasal bridge, Edema, Short neck, Pericardial ef... |
OMIM:608776 |
King-Denborough Syndrome |
|
Decreased fetal movement, Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Broad ... |
OMIM:619542 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Nephrogenic diabetes insipidus, Oligohydramnios, Dehydration, Atrial s... |
OMIM:208085 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Microcephaly-Cardiomyopathy Syndrome |
|
Sandal gap, Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... |
ORPHA:2515 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613251 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect, Hepatomegaly |
OMIM:614876 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasia, Patent foramen oval... |
OMIM:600001 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Verteb... |
ORPHA:1248 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High palate, Antever... |
OMIM:611209 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Decreased fetal movement, Ventricular septal defect, Cryptorchidism, Myopathy, Increased variabil... |
OMIM:616816 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Short thu... |
OMIM:612561 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava... |
OMIM:613759 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat... |
OMIM:301043 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Bulbous... |
OMIM:613870 |
Achondrogenesis, Type Ii |
|
Broad long bones, Edema, Short tubular bones of the hand, Polyhydramnios, Hydrops fetalis, Cleft ... |
OMIM:200610 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Cleft ... |
OMIM:153400 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... |
OMIM:217085 |
Oculoauriculofrontonasal Syndrome |
|
Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal tip, Cleft lip, Clef... |
ORPHA:398156 |
3C Syndrome |
|
Adrenal hypoplasia, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Abnormal tri... |
ORPHA:7 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous ret... |
ORPHA:555874 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy... |
OMIM:608751 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Depressed nasal ridge, Cleft palate, Hypoplastic left heart... |
ORPHA:1727 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Long philtrum, Atrial septa... |
OMIM:300887 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Kyphosis, Flexion contracture, Hydrops fetal... |
ORPHA:87876 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Depressed nasal ridge, Atrial septal defect, Thick nasal alae, Hypoplastic cer... |
ORPHA:79345 |
Cardiomyopathy, Dilated, 1V |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613697 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd toe, Tapered finger, Short thumb, Muscular ventricular septal defect, Split hand, Wide ... |
OMIM:618569 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Woods Syndrome |
|
Ventricular septal defect, Supernumerary nipple, 3-4 finger cutaneous syndactyly, Wide nasal brid... |
OMIM:615236 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat... |
OMIM:155050 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Wide nose, Hepatomegaly, Protruding tongue, Secundum atrial septal defec... |
OMIM:608779 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Arthrogryposis, Distal, Type 1C |
|
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... |
OMIM:619110 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Oligohydramnios |
OMIM:616733 |
Mogs-Cdg |
|
Hepatomegaly, Wide nose, Pulmonary edema, Thoracic scoliosis, Edema, Cardiomegaly, Polyhydramnios... |
ORPHA:79330 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Cryptorchidism, Increase... |
OMIM:617635 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Orofacial ... |
ORPHA:268249 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo... |
OMIM:611376 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, High palate, Atrial septal defect, Patent foramen ovale, ... |
ORPHA:280633 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Hyperlordosis, Spinal ri... |
ORPHA:268 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, ... |
ORPHA:371428 |
Down Syndrome |
|
Prenatal double bubble sign, Short palm, Atrial septal defect, Atrioventricular canal defect, Hyp... |
OMIM:190685 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Ventricular septal defect, Depressed nasal bridge, A... |
ORPHA:1458 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Ventricular septal defect, Nephrogenic diabetes insipidus, Arthrogryposis multiplex... |
OMIM:613404 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe... |
ORPHA:846 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Alg12-Cdg |
|
Edema, Polyhydramnios, Proximal placement of thumb, Short philtrum, Clinodactyly of the 5th finge... |
ORPHA:79324 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Abnormality of the dentition, Kyphosis, Cleft ... |
ORPHA:261190 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Choanal atresia, Polyhydramnios, Abnormality of the thyroid gland, Eso... |
ORPHA:1923 |
Bronchopulmonary Dysplasia |
|
Premature birth, Right ventricular hypertrophy |
ORPHA:70589 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Median cleft lip, Hypoplas... |
ORPHA:3186 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Abnormal heart morphology, Diaphragmatic eventration, Co... |
OMIM:600252 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu... |
ORPHA:284169 |
Clark-Baraitser Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ... |
OMIM:617752 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... |
OMIM:243150 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Micromelia, Lymphedema, Pancreatic cysts, Abnormal rib mo... |
ORPHA:1318 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Anteriorly placed anus, High palate, Short philt... |
OMIM:619148 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Anteriorly placed anus, Prominent fingertip pads, Atrial septal defect, Pate... |
OMIM:618494 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Anteverted nares, Carious teeth, Cryptorchidism, Deep ph... |
ORPHA:2701 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
German Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Lymphedema, Short neck, Cryptorchidism, Wide nas... |
ORPHA:2077 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypopl... |
ORPHA:94066 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Thoracic scoliosis, Polyhydramnios, Downturned corners of mouth, Choanal stenosis, Atrial septal ... |
OMIM:620186 |
Mucopolysaccharidosis, Type Vii |
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Short neck, Flexion contracture, Hydrops fetalis, Widely spaced teeth, Anterior beaking of lumbar... |
OMIM:253220 |
Tangier Disease |
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Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, Cor... |
OMIM:205400 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
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Hallux valgus, Abnormal heart valve morphology, Dental crowding, Sandal gap, Thoracolumbar scolio... |
ORPHA:230851 |
Developmental And Epileptic Encephalopathy 109 |
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Left ventricular hypertrophy |
OMIM:620145 |
9q subtelomeric deletion syndrome |
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Short nose, Anteverted nares, Protruding tongue, Abnormal heart morphology |
DECIPHER:52 |
Meckel Syndrome, Type 8 |
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Cleft upper lip, Pericardial effusion, Short neck, Depressed nasal ridge, Cleft palate, Anhydramn... |
OMIM:613885 |
Megalocornea |
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Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Ventricular Septal Defect 3 |
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Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Chromosome 1P36 Deletion Syndrome, Proximal |
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Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Bifid nasal tip, Complete atr... |
OMIM:619343 |
Braddock-Carey Syndrome 1 |
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Aortic valve prolapse, Ventricular septal defect, Anteverted nares, Hyperlordosis, Clinodactyly, ... |
OMIM:619980 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Accessory spleen, Sand... |
OMIM:613177 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
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Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
Primary Ciliary Dyskinesia |
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Abnormal atrial arrangement, Nasal polyposis, Atrial situs ambiguous, Intestinal malrotation, Sit... |
ORPHA:244 |
Mitochondrial Myopathy And Sideroblastic Anemia |
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Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Long philtrum, Short... |
ORPHA:2598 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Ventricular septal defect, Depressed nasal bridge, Prominent nasal bridge, Overlapping toe, Paten... |
OMIM:618974 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Secundum atrial septal defect, Oral ulcer, Neonatal omphalitis, Leukopenia, High palate, Hypoplas... |
OMIM:612541 |
Isolated Klippel-Feil Syndrome |
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Congenital muscular torticollis, Ventricular septal defect, Short neck, Abnormal sacrum morpholog... |
ORPHA:2345 |
Cataract 50 With Or Without Glaucoma |
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Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Microphthalmia, Isolated, With Coloboma 5 |
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Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Filippi Syndrome |
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Ventricular septal defect, Underdeveloped nasal alae, 2-4 toe syndactyly, Cryptorchidism, Wide na... |
OMIM:272440 |
Heterotaxy, Visceral, 2, Autosomal |
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Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
Trigonocephaly With Short Stature And Developmental Delay |
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Ventricular septal defect, Wide nasal bridge, High palate, Broad alveolar ridges, Clinodactyly of... |
OMIM:314320 |
Gm1 Gangliosidosis Type 1 |
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Depressed nasal bridge, Broad nasal tip, Cherry red spot of the macula, Gingival overgrowth, Hydr... |
ORPHA:79255 |
Stickler Syndrome Type 1 |
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Cleft palate, Mitral valve prolapse, Platyspondyly, Long philtrum, Abnormal vertebral epiphysis m... |
ORPHA:90653 |
X-Linked Intellectual Disability, Hedera Type |
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Left ventricular hypertrophy, Calcaneovalgus deformity, Scoliosis, Hypomimic face |
ORPHA:93952 |
Ververi-Brady Syndrome |
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Thin upper lip vermilion, Wide nose, Broad nasal tip, Prominent nose, Bulbous nose, Wide mouth, S... |
OMIM:617982 |
Cardiomyopathy, Familial Hypertrophic, 10 |
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Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Asymme... |
OMIM:608758 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, A... |
OMIM:618838 |
Holzgreve Syndrome |
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Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
Microphthalmia, Isolated, With Coloboma 3 |
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Microphthalmia |
OMIM:610092 |
Trichomegaly |
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Cataract |
OMIM:190330 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Thoracic scoliosis, Bicuspid aortic valve, Short neck, Thoracic kyphosis, Short palm, Clinodactyl... |
ORPHA:508498 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Micromelia, Finger joint hypermobility, Atrial septal defect, Patent foramen ovale, Scapular wing... |
OMIM:618870 |
Adenylosuccinate Lyase Deficiency |
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Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
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Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Cardiomyopathy, Familial Hypertrophic, 16 |
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Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy |
OMIM:613838 |
Cataract-Microcornea Syndrome |
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Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, High pa... |
OMIM:617602 |
Diabetic Embryopathy |
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Ventricular septal defect, Cryptorchidism, Abnormal sacrum morphology, Aplasia/Hypoplasia of the ... |
ORPHA:1926 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microphthalmia, Anophthalmia |
OMIM:616428 |
Ogden Syndrome |
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Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Lymphedema... |
OMIM:300855 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy |
ORPHA:444013 |
Fetal Valproate Spectrum Disorder |
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Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... |
ORPHA:1906 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Dental crowding, Anterior pituitary hypoplasia, Prominent nose, Bilateral cryptorchidism, High, n... |
ORPHA:466791 |
Thomas Syndrome |
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Hypoplastic left heart, Oligohydramnios, Cleft palate, Cleft upper lip |
ORPHA:3316 |
Pulmonary Hypertension, Primary, 5 |
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Right ventricular hypertrophy |
OMIM:265400 |
Burn-Mckeown Syndrome |
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Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bi... |
OMIM:608572 |
Skraban-Deardorff Syndrome |
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Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Absent cupid's bow, Cleft pa... |
OMIM:617616 |
Blomstrand Lethal Chondrodysplasia |
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Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares... |
ORPHA:50945 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
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Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Wide nasal bridge, Broad sec... |
ORPHA:3369 |
Mgat2-Cdg |
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Impaired lymphocyte transformation with phytohemagglutinin, Brachydactyly, Ventricular septal def... |
ORPHA:79329 |
8Q12 Microduplication Syndrome |
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Ventricular septal defect, Wide nasal bridge, Short foot, Everted lower lip vermilion, Narrow mou... |
ORPHA:228399 |
Alg9-Cdg |
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Villous atrophy, Short neck, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventric... |
ORPHA:79328 |
Mucopolysaccharidosis Type 7 |
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Anterior beaking of lower thoracic vertebrae, Lymphedema, Metatarsus adductus, Splenomegaly, Shor... |
ORPHA:584 |
Periventricular Nodular Heterotopia 7 |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, A... |
OMIM:617201 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Thin upper lip vermilion, Ventricular septal defect, Bulbous nose, Patent ductus arteriosus, Olig... |
OMIM:618330 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
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Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Bicuspid aortic valve, Prominent nose, Short neck, Widely spaced teeth, High palate, Atrial septa... |
OMIM:612474 |
8P23.1 Microdeletion Syndrome |
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Congenital diaphragmatic hernia, Proximal placement of thumb, Short neck, High palate, Atrioventr... |
ORPHA:251071 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Hepatomegaly, Overlapping fingers, Ventricular septal defect, Rocker bottom foot, Polyhydramnios,... |
OMIM:301056 |
Cardiospondylocarpofacial Syndrome |
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Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale, Anteverted nares, Hy... |
OMIM:157800 |
Frank-Ter Haar Syndrome |
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Anterior concavity of thoracic vertebrae, Secundum atrial septal defect, High palate, Short palm,... |
OMIM:249420 |
Coenzyme Q10 Deficiency, Primary, 7 |
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Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosis, Hypertrop... |
OMIM:616276 |
Teebi Hypertelorism Syndrome 1 |
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Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular sept... |
OMIM:145420 |
Acrocephalopolydactyly |
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Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Limb undergrowth, Short nose, Brachyd... |
ORPHA:221054 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Premature birth, Ventricular septal defect, Depressed ... |
ORPHA:2256 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
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Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Truncus arteriosus, Smooth phi... |
OMIM:611867 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Short distal phalanx of toe, Anteverted nares, Precocious puberty, Bilateral triphalangeal thumbs... |
OMIM:619356 |
Pituitary Gigantism |
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Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact... |
ORPHA:99725 |
Pulmonary Hypertension, Primary, 1 |
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Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... |
OMIM:178600 |
Atrial Septal Defect 2 |
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Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
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Left ventricular hypertrophy |
OMIM:614458 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
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Cardiomyopathy, Nonimmune hydrops fetalis |
OMIM:619003 |
Lymphangiectasia, Pulmonary, Congenital |
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Depressed nasal bridge, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Palpebral... |
OMIM:265300 |
Lymphatic Malformation 13 |
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Depressed nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pe... |
OMIM:620244 |
Bardet-Biedl Syndrome 18 |
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Renal insufficiency, Cataract, Stage 5 chronic kidney disease |
OMIM:615995 |
Microform Holoprosencephaly |
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Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... |
ORPHA:280200 |
Kallmann Syndrome-Heart Disease Syndrome |
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Short lingual frenulum, Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Anomalous ... |
ORPHA:2326 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
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Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Multiple Synostoses Syndrome 3 |
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Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
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Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... |
OMIM:235750 |
Timothy Syndrome |
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Thin upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Hypoth... |
OMIM:601005 |
Desbuquois Syndrome |
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Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cox... |
ORPHA:1425 |
Atelis Syndrome 1 |
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Ventricular septal defect, Prominent nose, Carious teeth, Thrombocytopenia, Lumbar kyphosis, Leuk... |
OMIM:620184 |
Teebi Hypertelorism Syndrome 2 |
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Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... |
OMIM:619736 |
Isolated Dandy-Walker Malformation |
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Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia |
ORPHA:217 |
Nanophthalmos |
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Microphthalmia |
ORPHA:35612 |
Pelger-Huet Anomaly |
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Ventricular septal defect, Depressed nasal bridge, Abnormality of neutrophils, Abnormality of the... |
OMIM:169400 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Bowing of the long bones, Ventricular septal defect, Rhizomelia, Proximal placement of thumb, Sho... |
ORPHA:93267 |
Congenital Enterovirus Infection |
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Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Fetal ascites, Polyhyd... |
ORPHA:292 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Everted upper lip vermilion, Decreased fetal movement, Depressed nasal bridge, Ante... |
OMIM:608013 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Congenital diaphragmatic hernia, Polyhydramnios, Vertebral segmentation defect, Short palm, Atria... |
OMIM:312870 |
Congenital Alveolar Capillary Dysplasia |
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Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Diamond-Blackfan Anemia 7 |
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Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Choanal atresia, Polyhyd... |
OMIM:612562 |
Rubinstein-Taybi Syndrome 1 |
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Dental crowding, Polyhydramnios, Prominent nose, Bilateral cryptorchidism, High, narrow palate, P... |
OMIM:180849 |
Coenzyme Q10 Deficiency, Primary, 5 |
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Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:614654 |
Testicular Anomalies With Or Without Congenital Heart Disease |
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Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology |
OMIM:615542 |
Cardiomyopathy, Familial Hypertrophic, 17 |
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Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis |
OMIM:613873 |
Nanophthalmos 4 |
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Microphthalmia |
OMIM:615972 |
Aortic Arch Interruption |
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Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Grange Syndrome |
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Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm |
ORPHA:79094 |
Robinow Syndrome, Autosomal Dominant 3 |
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Hypoplastic right heart, Short neck, Clinodactyly, Anteriorly placed anus, Downturned corners of ... |
OMIM:616894 |
Reticular Dysgenesis |
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Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Anterior Segment Dysgenesis 8 |
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Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
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Dental crowding, Oligodontia, High palate, Short philtrum, Atrial septal defect, Clinodactyly of ... |
OMIM:617061 |
Lymphatic Malformation 1 |
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Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydr... |
OMIM:153100 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Wide nose, Depressed nasal bridge, Anteverted nares, Iliac crest serration, Cardiomegaly, Metaphy... |
OMIM:613320 |
Brachydactyly, Type B1 |
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Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Short Stature And Facioauriculothoracic Malformations |
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Abnormal odontoid process morphology, Ventricular septal defect, Cleft upper lip, Short neck, Cle... |
OMIM:609654 |
Synaptic Congenital Myasthenic Syndromes |
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Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Type 2 muscle fibe... |
ORPHA:98915 |
Fadd-Related Immunodeficiency |
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Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Syndactyly, Depressed nasal bridge, Ventricular septal defect, Short neck, Cryptorchidism, Bulbou... |
ORPHA:369891 |
Transaldolase Deficiency |
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Hepatomegaly, Pancytopenia, Ventricular septal defect, Depressed nasal bridge, Short neck, Spleno... |
OMIM:606003 |
Heterotaxy, Visceral, 5, Autosomal |
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Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestina... |
OMIM:270100 |
3P25.3 Microdeletion Syndrome |
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Skeletal muscle atrophy, Proximal placement of thumb, Prominent nose, High, narrow palate, Deep p... |
ORPHA:435638 |
Miller-Dieker Syndrome |
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Anteverted nares, Polyhydramnios, Abnormal upper lip morphology, Clinodactyly of the 5th finger, ... |
ORPHA:531 |
Idiopathic Pulmonary Arterial Hypertension |
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Edema of the dorsum of feet, Pedal edema, Right ventricular hypertrophy, Chronic hemolytic anemia... |
ORPHA:275766 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventric... |
OMIM:615996 |
Microphthalmia, Isolated 4 |
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Microphthalmia |
OMIM:613094 |
Charge Syndrome |
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Decreased response to growth hormone stimulation test, Polyhydramnios, Secundum atrial septal def... |
OMIM:214800 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Decreased fetal movement, Prominent nose, Patent ductus arteriosus, Wide nasal bridge, Atrial sep... |
OMIM:614886 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Atrial septal d... |
OMIM:245600 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Skeletal muscle atrophy, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia ... |
ORPHA:367 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Finger syndactyly, ... |
ORPHA:2136 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteve... |
OMIM:618961 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Sacral dimple, Ventricular septal defect, Prominent nose, Short neck, Long fingers, Inc... |
OMIM:615668 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Cryptorchidism, High palate, Everted lower lip vermilion, Scoliosis, Shor... |
ORPHA:1695 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Ventricular septal defect, Depressed nasal bridge, Supernumerary nipp... |
ORPHA:46627 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancrea... |
OMIM:263520 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Cryptorchidism, Patellar hyp... |
OMIM:619189 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukop... |
OMIM:620210 |
Distal Duplication 18Q |
|
Thickened nuchal skin fold, Anteverted nares, Prominent nasal bridge, Choanal atresia, Arachnodac... |
ORPHA:1716 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Short neck, Flex... |
OMIM:620369 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Congenital hip dislocation, High palate, Narrow mouth, Clinodactyly of the 5th finger,... |
ORPHA:217385 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Wide nose, Brachydactyly, Depressed nasal bridge, Anteverted nares, Bic... |
OMIM:618027 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Short toe, Wide nasal bridge, Cleft p... |
OMIM:614078 |
Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Cryptorchidism, Hip dysplasia, Thin vermilion border, High pala... |
OMIM:617991 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Premature birth, Polyhydramnios, Supernumerary nipple, High, narrow pa... |
OMIM:615102 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Depressed nasal bridge, Anteverted nares,... |
OMIM:606812 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Anter... |
OMIM:309801 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Deep philtrum, Downturned corners of mouth, Bifid uvula, Depressed nasal bridge, Anteverted nares... |
ORPHA:404440 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... |
OMIM:619472 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose, Clinodactyly, Wide mouth, Macro... |
OMIM:616789 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Hemivertebrae, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares, Wide nasa... |
OMIM:614701 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral cryptorchidism, Patent... |
OMIM:618652 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Dental crowding, Decreased response to growth hormone st... |
OMIM:619503 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... |
OMIM:601357 |
X-Linked Intellectual Disability, Nascimento Type |
|
Deep philtrum, Downturned corners of mouth, Neutropenia, Patent foramen ovale, Depressed nasal br... |
ORPHA:163956 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Distal amyotroph... |
ORPHA:3208 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Hypothyroidis... |
OMIM:617713 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Beaded ribs, T... |
OMIM:166210 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab... |
OMIM:615418 |
Diprosopus |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the nose |
ORPHA:1681 |
Al-Raqad Syndrome |
|
Thin upper lip vermilion, Sandal gap, Narrow mouth, Atrial septal defect, Short nose, Brachydactyly |
OMIM:616459 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners... |
OMIM:601224 |
C Syndrome |
|
Micromelia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Hepatomegaly, Sh... |
OMIM:211750 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Downturned corners of mouth, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly... |
OMIM:220500 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula... |
OMIM:615474 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Sm... |
OMIM:239800 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Polyhydramnios, Proximal placement of thumb, Absent r... |
OMIM:314390 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect, Scoliosis |
ORPHA:357225 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Left atrial enlargement, Abnormality of thyroid physiology, Myocarditis, Dilat... |
ORPHA:563 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Facial hypotonia, Arachnodactyly, Adducted thumb, Mitral valve prolapse, High pa... |
OMIM:615539 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth, Short nose, ... |
ORPHA:1832 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Congenital diaphragmatic hernia, Non-midline cleft li... |
ORPHA:1915 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardiomyopathy, Hypochromic... |
ORPHA:66634 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, High pal... |
ORPHA:124 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Anteverted nares, Broad hallux, Broad nasal tip, Sandal gap, Cleft soft pa... |
OMIM:618529 |
Holt-Oram Syndrome |
|
Finger syndactyly, Ventricular septal defect, Absent thumb, Abnormality of the humerus, Kyphosis,... |
ORPHA:392 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Maternal diabetes, Cryptorchidism, Rib fusion, Abnormal ri... |
ORPHA:1988 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Split hand, Abnormal rib morphology, Oligohydramnios, Cleft palate... |
ORPHA:2145 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Aplastic clavicle, Postaxial polydactyly, Accessory oral frenulum, Hamart... |
OMIM:616546 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Broad nasal tip, Bifid nasal tip, Postaxial hand polydactyly, Wide nasal bridge... |
OMIM:136760 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Median cleft lip, Micromelia, Postaxial hand polydactyly,... |
OMIM:241800 |
Peho-Like Syndrome |
|
Edema, Short nose, Open mouth, Tapered finger |
OMIM:617507 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:251274 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... |
OMIM:126320 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel... |
ORPHA:93329 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Depressed nasal bridge, Camptodactyly of finger,... |
ORPHA:2876 |
Greenberg Dysplasia |
|
Polyhydramnios, Beaded ribs, Micromelia, Depressed nasal ridge, Hydrops fetalis, Tetraphocomelia,... |
OMIM:215140 |
Pierpont Syndrome |
|
Wide nose, Broad nasal tip, Long upper lip, Cryptorchidism, Short toe, Short foot, Broad philtrum... |
OMIM:602342 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Camptoda... |
OMIM:300963 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val... |
ORPHA:166272 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Short neck, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Atria... |
OMIM:613610 |
Prune Belly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Apla... |
ORPHA:2970 |
Emanuel Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, High palate, Atrial septal defect, Joint contra... |
OMIM:609029 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Short middle phalanx of the 5th finger, Shor... |
ORPHA:391641 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo... |
OMIM:206920 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular septal defect, T... |
OMIM:618651 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Paten... |
OMIM:612938 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atria... |
ORPHA:261272 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
Bamforth-Lazarus Syndrome |
|
Polyhydramnios, Thyroid agenesis, Cleft palate, Congenital hypothyroidism, Bilateral choanal atresia |
OMIM:241850 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab... |
ORPHA:2879 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Atrial septal defect |
ORPHA:93946 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Broad nasal tip, Precocious puberty, Cryptorchidism, 2-3 toe syndactyl... |
ORPHA:3306 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Depressed nasal bridge, Rhizomelia, Short neck, Abnormality of the humerus, Preaxi... |
ORPHA:3098 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Cleft upper lip, Abnormality... |
ORPHA:96167 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Kbg Syndrome |
|
Thin upper lip vermilion, Vertebral fusion, Anteverted nares, Prominent nasal bridge, Macrodontia... |
ORPHA:2332 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Pol... |
OMIM:616920 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Palpebral edema, Metatarsus adductus, Cryptorchidism, Cleft palate, Abnormal heart ... |
OMIM:214110 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Cleft upper lip, Short neck, C... |
OMIM:243310 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin... |
OMIM:615502 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Vertebral segmentatio... |
OMIM:612530 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... |
ORPHA:2712 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Clinodactyly, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Hepatomegaly, ... |
OMIM:280000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Cleft upper lip, Precocious puberty, Bulbous nose, Wide nasal bridge, Cleft pal... |
OMIM:300958 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum |
ORPHA:438178 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebral vascular morphology... |
ORPHA:363705 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, Re... |
ORPHA:904 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis, Cleft palate, Thin ribs, Slender long bone, Brachydactyly |
OMIM:618265 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Ventricular septal defect, Postaxial polydactyly, Kyphoscoliosis, Cleft... |
OMIM:614815 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double outlet... |
OMIM:618164 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Premature birth, Polyhydramnios, Oligohydramnios |
ORPHA:3033 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Hepatomegaly, Tented upper lip vermilion, Anteverted nares, Overlapping toe,... |
OMIM:619383 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners of mouth, Vertebral s... |
ORPHA:1507 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger, High, narrow palate, Ce... |
OMIM:617926 |
Cln3 Disease |
|
Left ventricular hypertrophy, Vacuolated lymphocytes, Increased circulating androgen concentration |
ORPHA:228346 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Diastasis rect... |
OMIM:608149 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Prominent nose, Short neck, Flexion contracture, Preaxial polydactyly, Knee flexion c... |
OMIM:210710 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Anteverted nares, Polyhydramnios, Preaxial hand polydactyl... |
OMIM:263630 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Prominent fingertip pads, Decreased response to growth hormone stimulation test, T... |
ORPHA:485405 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Gas... |
ORPHA:84064 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Abnormal ao... |
ORPHA:1596 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilion, Short philtrum, Scol... |
ORPHA:2429 |
Vici Syndrome |
|
Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, Neutropenia, Atrial septa... |
OMIM:242840 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Broad nasal tip, Clinodactyly, Recurrent upper respiratory tract infections, F... |
ORPHA:391372 |
Perlman Syndrome |
|
Hepatomegaly, Anteverted nares, High, narrow palate, Open mouth, Cryptorchidism, Hyperinsulinemia... |
ORPHA:2849 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Antevert... |
OMIM:619762 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Depressed... |
ORPHA:1529 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Splenomegaly, Esophageal varix, Foot oligodactyly, Truncus... |
OMIM:616589 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cleft upper lip, Complete atrioventr... |
OMIM:264480 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... |
ORPHA:1335 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Polyhydramnios, Kyphoscoliosis, Patent ductus arteriosus, Wide nasal bridge, Joint contracture, H... |
OMIM:618005 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Depressed nasal bridge, Overlapping toe, Post... |
OMIM:618142 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Pulmonary artery stenosis, A... |
ORPHA:75389 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... |
OMIM:265000 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... |
OMIM:300166 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Flexion contracture, Cleft palate, Talipes equinovarus, Open mouth, Sl... |
OMIM:147800 |
Alg8-Cdg |
|
Premature birth, Edema, Thrombocytopenia, Hydrops fetalis, Oligohydramnios, Macroglossia, Talipes... |
ORPHA:79325 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Hyp... |
OMIM:617450 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Peripheral edema, Right ventricular... |
ORPHA:1677 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Anteverted nares, Congenital diaphragmatic hernia, Short neck, Bulbous... |
ORPHA:1780 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Dehydration, C... |
ORPHA:1667 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Wide nasal bri... |
OMIM:618067 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Bulbous nose, Wide nasal bridge, Postaxial polydactyly |
OMIM:612913 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Polyhydramnios, Cardiomegaly, High, narrow palate, A... |
ORPHA:3472 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Spinal c... |
ORPHA:93476 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Open mouth, Bulbous nose, Pierre-Robin sequence, Wide... |
OMIM:613604 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... |
ORPHA:139466 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Edema, Cleft upper lip, Polyhydramnios, Fetal akin... |
OMIM:312150 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Po... |
OMIM:235255 |
Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Epistaxis, Lymphedema, Abnormality o... |
ORPHA:137667 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Short neck, Patent ductus art... |
ORPHA:52055 |
Filippi Syndrome |
|
Finger syndactyly, Wide nose, Ventricular septal defect, Prominent nasal bridge, Supernumerary ni... |
ORPHA:3255 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... |
ORPHA:69735 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Widely-spaced maxillary central incisors, Partial duplication of the pr... |
ORPHA:363417 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... |
OMIM:174300 |
Robinow Syndrome |
|
Dental crowding, Hemivertebrae, Orofacial cleft, Atrial septal defect, Fused thoracic vertebrae, ... |
ORPHA:97360 |
Fabry Disease |
|
Transient ischemic attack, Lymphedema, Ventricular septal hypertrophy, Delayed puberty, Left vent... |
OMIM:301500 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Short neck, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft pal... |
OMIM:618571 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Ex... |
ORPHA:261236 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Ventricular s... |
ORPHA:500159 |
Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar... |
ORPHA:3093 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short neck, Wide mouth, Pulmonic stenosis, Scoliosis, Atrial septal de... |
OMIM:615279 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Shor... |
OMIM:244300 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Hydrops fetalis |
ORPHA:834 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Metaphyseal cupping, Cupped ribs, Metaphyseal widening, Hypoplastic ilia, Hypop... |
OMIM:614524 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Ca... |
ORPHA:2008 |
Melanocytic Nevus Syndrome, Congenital |
|
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion... |
OMIM:137550 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Ventricular septal defect, Arachnodactyly, Edema, Kyphoscoliosis, Cleft lip, Parti... |
OMIM:618348 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Polydactyly, Leukemia, Smooth phil... |
OMIM:602501 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Prominent nasal bridge, Broad nasal tip, Bilateral crypt... |
OMIM:613544 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Short neck, Bulbous nose, Patent ductus arteri... |
ORPHA:2328 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Short neck, Tibial bowing, High palate, Short philtrum, Microdontia, Clinodactyl... |
ORPHA:251028 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Prominent nasal bridge, Overl... |
OMIM:617452 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Decreased fetal movement, Ventricular septal defect, Edema, Polyhydramni... |
OMIM:607598 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Symphalangism affecting the ph... |
ORPHA:2547 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Underdeveloped nasal ala... |
ORPHA:83617 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Scapular winging, Hypoplasia of the musculature, Carious teeth, Crypto... |
OMIM:278250 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Cryptorchid... |
ORPHA:329224 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Patent ductus arteriosus, Cle... |
ORPHA:1790 |
Coffin-Siris Syndrome 4 |
|
Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Pulmonary artery atresia,... |
OMIM:614609 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Long nose, Carious teeth, Velopharyngeal insufficiency, Patent ductus ... |
OMIM:613680 |
Holoprosencephaly 14 |
|
Median cleft lip, Anteverted nares, Ventricular septal defect, Proboscis, Cleft lip, Aortic valve... |
OMIM:619895 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Polyhydramnios, Short neck, Flexion contracture, Hydrops fetalis, Knee flexion contracture, Downt... |
OMIM:300868 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Short neck, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of the th... |
ORPHA:567 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate p... |
OMIM:224120 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Congenital diaphragmatic hernia, Polyhydramnios, Orofacial cleft, Finger clin... |
ORPHA:1692 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Enlarged epiphyses, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Pierre-Robin ... |
OMIM:184840 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Nephrogenic diabetes in... |
OMIM:620167 |
Zechi-Ceide Syndrome |
|
Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cleft palate, Abnormal hea... |
ORPHA:217017 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Arachnodactyly, Cryptorchidism, Aortic root aneurysm, Short philtrum, ... |
OMIM:301039 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Abnormal placental membrane morphology, Polyhydramni... |
ORPHA:79500 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Flexion contracture, Scoliosis |
OMIM:618379 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Decreased fetal movement, Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad... |
OMIM:614207 |
Tangier Disease |
|
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... |
ORPHA:31150 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:2919 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Bulbous... |
OMIM:192430 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Downturne... |
OMIM:613443 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Thin upper lip vermilion, Hyperextensibility of the finger joints, Macroorch... |
OMIM:309520 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Brachydactyly, Ventricular septal defect, Dextrocardia, Prominent nasal b... |
ORPHA:96097 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Peripheral edema, Left vent... |
ORPHA:57777 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Prominent... |
ORPHA:363528 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertroph... |
OMIM:619167 |
Hamamy Syndrome |
|
Microcytic anemia, High palate, Clinodactyly of the 5th finger, Atrial septal defect, Long toe, S... |
OMIM:611174 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Genu valgum, Anal atresia, Tetralogy of Fallot, Abnormal palate morphology |
ORPHA:1381 |
Fetal Encasement Syndrome |
|
Decreased fetal movement, Congenital diaphragmatic hernia, Upper limb undergrowth, Lower limb und... |
OMIM:613630 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Anteverted nares, Choanal atresia, Proximal placement of thumb, Esopha... |
OMIM:610536 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Intestinal malrotation, Congenital diaphragmat... |
ORPHA:2143 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Paten... |
OMIM:617751 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va... |
ORPHA:2831 |
Coffin-Siris Syndrome 3 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Central diaphragmatic hernia, Short distal p... |
OMIM:614608 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Leukocytosis, Ischemic stroke, Left ventricular hypertrophy, Hypopituitarism... |
ORPHA:90065 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Diabetes mellitus, Dextrocardia, Edema, Underdeveloped nasal alae, Abn... |
ORPHA:2315 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d... |
OMIM:615508 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I... |
ORPHA:1473 |
Bamforth-Lazarus Syndrome |
|
Choanal atresia, Polyhydramnios, Thyroid agenesis, Cleft palate, Congenital hypothyroidism |
ORPHA:1226 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr... |
OMIM:143200 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress, Maternal diabetes |
ORPHA:45452 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, Polydactyly, High p... |
OMIM:300484 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Wide nose, Hyperextensibility of the finger joints, Ventricular septal ... |
ORPHA:505237 |
Acrodysostosis |
|
Micromelia, Depressed nasal ridge, Short metatarsal, Hypoplasia of the ulna, Short metacarpal, An... |
ORPHA:950 |
Emanuel Syndrome |
|
Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, High palate, Atria... |
ORPHA:96170 |
Arthrogryposis, Distal, Type 2A |
|
Dental crowding, Polyhydramnios, Short neck, Knee flexion contracture, High palate, Spina bifida ... |
OMIM:193700 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Coxa valga, Short neck, Cleft p... |
ORPHA:163649 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger... |
OMIM:300558 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy,... |
OMIM:618839 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Short neck, Cr... |
OMIM:217980 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Short neck, Knee flexion contracture, High palate, Atrial septal defect, W... |
OMIM:121050 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... |
OMIM:614749 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, High palate, Atrial septal defect,... |
OMIM:201000 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Hypoplasia of the thymu... |
OMIM:300400 |
Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Ventricular septal defect, Prominent nose, Absent thumb, Cryptorchidism, Patent du... |
OMIM:617516 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Nonimmune hydrops fetalis |
ORPHA:477774 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, J... |
ORPHA:436252 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Poly... |
ORPHA:1770 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Hypertrophic ca... |
OMIM:618835 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Ventricular septal defect, Convex nasal ridge, Narrow mouth |
OMIM:245552 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cleft lip, Cryptorchidism, Kyphosis, Cleft palate, Pulmonic ... |
OMIM:619123 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Distal Deletion 12Q |
|
Short neck, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clin... |
ORPHA:96149 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Micromelia, Cryptorchidism, Single umbilical artery, Hypoplastic left ... |
ORPHA:2772 |
Mucolipidosis Type Ii |
|
Hip contracture, Depressed nasal bridge, Abnormal mitral valve morphology, Diastasis recti, Splen... |
ORPHA:576 |
Aneurysm-Osteoarthritis Syndrome |
|
High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial tortuosity, Patent ... |
ORPHA:284984 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly, Brachycephaly, Midface retrusion |
ORPHA:35099 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Spondylolis... |
OMIM:613795 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Tapered finger, Patent duc... |
ORPHA:65286 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Polyhydramnios, Esophage... |
OMIM:619859 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Depressed nasal bridge, Anteverted nares, Rhizomelia, Submucous cleft hard palate,... |
OMIM:222765 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Cryptorchidis... |
ORPHA:171839 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Anteverted nares, Exaggerated cupid's bow... |
OMIM:615879 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d... |
OMIM:619769 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Shorten... |
OMIM:615716 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly |
ORPHA:3449 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Hemolytic anemia, Edema, Pericardial effusion, Hepatosplenomegaly, Lo... |
OMIM:619487 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:613801 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... |
OMIM:619854 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Prominent nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Long nose, Pulmon... |
OMIM:137940 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Campto... |
ORPHA:1327 |
Morm Syndrome |
|
Micropenis, Cataract, Retinal atrophy |
ORPHA:75858 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Thin upper lip vermilion, Cardiomegaly |
OMIM:613576 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, W... |
OMIM:618950 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Abnormality of the dentition, Unilateral radial aplasia, Complete at... |
ORPHA:476126 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... |
OMIM:619910 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Micromelia, Situs ... |
ORPHA:1908 |
Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Accesso... |
OMIM:608978 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft... |
OMIM:618021 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ... |
OMIM:300863 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Cardiomyopathy, Short philtrum, Short nose, Open mouth |
OMIM:618437 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Dilat... |
OMIM:616730 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Hypogonadism, Short nose, Short nasal sept... |
OMIM:302950 |
Keutel Syndrome |
|
Wide nose, Ventricular septal defect, Depressed nasal bridge, Underdeveloped nasal alae, Pulmonar... |
ORPHA:85202 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Short philt... |
OMIM:188400 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Edema, Polyhydramnios, Fetal akinesia sequence, Fl... |
OMIM:253290 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital muscular torticollis, Bicuspid aortic valve, Ventricular sep... |
ORPHA:457279 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose,... |
OMIM:612563 |
Trisomy 12P |
|
Thickened nuchal skin fold, Supernumerary nipple, Wide nasal bridge, Cleft palate, Downturned cor... |
ORPHA:1699 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, D... |
ORPHA:163966 |
Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Polyhydramnios, Short neck, Abnormal... |
ORPHA:2059 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... |
OMIM:311300 |
Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Open mouth, Downturned corn... |
OMIM:614744 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Delayed eruption of primary teeth, Congenital diaphragmatic hernia, Bilateral cr... |
ORPHA:2409 |
Fetal Akinesia Deformation Sequence 2 |
|
Decreased fetal movement, Tented upper lip vermilion, Fetal akinesia sequence, Cryptorchidism, Wi... |
OMIM:618388 |
Mosaic Trisomy 16 |
|
Syndactyly, Single coronary artery origin, Ventricular septal defect, Premature birth, Maternal d... |
ORPHA:1708 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Brachydactyly, Ventricular septal defect, Depressed nasal bridge, Broad hall... |
OMIM:620073 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Lambert Syndrome |
|
Wide mouth, Ventricular septal defect |
ORPHA:1296 |
Down Syndrome |
|
Depressed nasal ridge, Downturned corners of mouth, Clinodactyly of the 5th finger, Microdontia, ... |
ORPHA:870 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Hypoplas... |
ORPHA:1782 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Absent thumb, Short n... |
OMIM:300514 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Thrombocytopenia... |
ORPHA:290 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly |
OMIM:309545 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Oligodontia, Depressed nasal bridge, Anteverted nares, Cleft soft palate, Crypto... |
OMIM:616331 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Ventricular septal defect, Elbow contracture, Tarsal synostosi... |
OMIM:178110 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Flexion contracture, High palate, Short philtrum, Patent foramen ovale, Hepatomegaly, Depressed n... |
OMIM:619127 |
Chops Syndrome |
|
Anteverted nares, Ventricular septal defect, High, narrow palate, Splenomegaly, Patent ductus art... |
OMIM:616368 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Short philtrum, Clinodactyly of th... |
OMIM:618454 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Right ventricular hypertrophy |
ORPHA:217563 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of F... |
ORPHA:2184 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose |
OMIM:300581 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Thin upper lip vermilion, Skeletal muscle atrophy, Cryptorchidism, Wide mouth, Join... |
OMIM:615419 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Bifid u... |
OMIM:200990 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... |
OMIM:249270 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect,... |
ORPHA:49827 |
Apparent Mineralocorticoid Excess |
|
Stroke, Abnormality of circulating cortisol level, Left ventricular hypertrophy, Decreased circul... |
ORPHA:320 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus, Absent pulm... |
OMIM:600460 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Overlapping toe, Underdeveloped nasal alae, Carious teeth, Cryptorchidism, Wide... |
OMIM:613026 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Protruding tongue, Cryptorchidism, Conotruncal defect, Coarctation of aorta, Do... |
ORPHA:96147 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Open mouth, Broad nasal tip |
OMIM:613670 |
Ogden Syndrome |
|
Everted upper lip vermilion, Torticollis, Ventricular septal defect, Broad hallux, Underdeveloped... |
ORPHA:276432 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Hypoparathyroidism, Palpebral edema, Polyhydramnios, Micromelia, Fetal pyelecta... |
ORPHA:50810 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, Wide mouth, High palate, Clinodactyly of the 5th f... |
OMIM:613398 |
Costello Syndrome |
|
Thickened nuchal skin fold, Ventricular septal defect, Depressed nasal bridge, Abnormal dental en... |
ORPHA:3071 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Short neck, Atrial septal defect, Microd... |
OMIM:613458 |
Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Scoliosis, Prominent nasal tip, Short nose, Smooth philtrum |
OMIM:618218 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... |
ORPHA:177907 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Hypoplasia of teeth,... |
OMIM:249620 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange... |
OMIM:615550 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Ventricular septal defect, Decreased response to growth hormone stimulati... |
OMIM:614114 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Cryptorchidism, Wide nasal bridge, Broad philtrum, Long philtrum, Clinodactyly,... |
OMIM:618577 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose, Postaxial hand polydactyly, Abnormal palate morphology, Long philtrum |
ORPHA:1389 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly |
OMIM:618618 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Peho Syndrome |
|
Tented upper lip vermilion, Edema of the dorsum of feet, Edema, Tapered finger, Edema of the dors... |
OMIM:260565 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,... |
OMIM:611812 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Atrial se... |
OMIM:617063 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, High, narrow palate, Hypoplasia of the abdominal wall musculature, Anterio... |
OMIM:612289 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Long fingers, Ulnar deviation of finger, Downturned corners of... |
ORPHA:1895 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventr... |
OMIM:619312 |
Galactosialidosis |
|
Visceromegaly, Cherry red spot of the macula, Nonimmune hydrops fetalis, Hepatosplenomegaly |
OMIM:256540 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose, Camptodactyly of finger, Abnormal palate morphology, Narrow mouth |
ORPHA:1495 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thin upper lip vermilion, Pericarditis, Villous atrophy, Depressed nasal bridge, Hepatomegaly, Ed... |
OMIM:212065 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Rhabdomyolysis, Dilated cardiomyopathy, Hydrops fetalis, Myopathy, Abnormality of the amniotic fluid |
OMIM:609015 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous return, Right aort... |
OMIM:617478 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Abnormality of the dentition, Cryptorchidism, Postaxial hand polydactyly, Thin ve... |
ORPHA:1702 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Treacher-Collins Syndrome |
|
Glossoptosis, High palate, Hypoplasia of the thymus, Abnormal dental morphology, Abnormal dental ... |
ORPHA:861 |
Fetal Akinesia Deformation Sequence 1 |
|
Polyhydramnios, Fetal akinesia sequence, High, narrow palate, High palate, Ulnar deviation of the... |
OMIM:208150 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Short palm, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, ... |
ORPHA:254346 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Clinodactyly... |
OMIM:620113 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma |
OMIM:618220 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Pedal edema, Dilatation of the cerebral arte... |
ORPHA:615 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Long nose, Increased intervertebral space, Thoracolumbar kyphosis, T lymphocytope... |
ORPHA:508533 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Punctate ve... |
ORPHA:1914 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Tented upper lip vermilion, Bicuspid aortic valve, Anteverted nares, V... |
ORPHA:261494 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Farber Disease |
|
Skeletal muscle atrophy, CNS foam cells, Thrombocytopenia, Short toe, Recurrent upper respiratory... |
ORPHA:333 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Crypto... |
ORPHA:3121 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Short lingual frenul... |
OMIM:617360 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Cle... |
OMIM:239300 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent fetal na... |
OMIM:608022 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Atrial septal defect,... |
OMIM:164200 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Cleft u... |
OMIM:106260 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Short neck, Patent ductus arteriosus, Bilateral cleft lip and palate, Abn... |
ORPHA:2001 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula |
OMIM:619083 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Premature birth, Polyhydramnios, Postaxial polydactyly, Fetal pericard... |
OMIM:219730 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Facial hypotonia, Ventricular septal defect, Short neck,... |
ORPHA:85194 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Muscular dystrophy, Hydrops fetalis, Abnormality of the dentition |
ORPHA:88618 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Equinus calcaneus, Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Left ve... |
ORPHA:746 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Underdeve... |
OMIM:272950 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Ky... |
OMIM:603387 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Abnormality of the dentition, Short neck, ... |
ORPHA:251038 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Bicuspid aortic valve, Cerebral arteriovenous malformation, Prominent nose, Bi... |
OMIM:150230 |
Coffin-Siris Syndrome |
|
Papillary thyroid carcinoma, Atrial septal defect, Thick nasal alae, Depressed nasal bridge, Ante... |
ORPHA:1465 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Unilateral cryptorchidism, Kyphoscoliosis, Underdeveloped nasal alae, ... |
ORPHA:447980 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy |
OMIM:613731 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Stage 5 chronic kidney dis... |
ORPHA:3156 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Natal tooth, Absent gallbladder, Depressed nasal bridge, Postaxial polydactyly, Ham... |
OMIM:617925 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Syndac... |
OMIM:305400 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Diabetes mellitus, Dental crowding, Aganglionic megacolon,... |
OMIM:209900 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Depressed nasal bridge, Sandal gap, Proximal placement of thumb, Short ... |
ORPHA:90650 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Short nose, Distal amyotrophy, Scoliosis |
OMIM:617183 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Depressed nasal bridge, Sandal gap, Micromelia, Cervical kyphosis, Short ne... |
OMIM:256050 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Ventricular septal ... |
OMIM:609942 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Cardiomegaly, Abnormal thumb morphology, Protrudi... |
ORPHA:324410 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Colitis, Cardiomegaly |
ORPHA:88643 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Scoliosis, Lon... |
OMIM:619179 |
Fetal Hydantoin Syndrome |
|
Thickened nuchal skin fold, Cryptorchidism, Depressed nasal ridge, Cleft palate, Wide mouth, Ever... |
ORPHA:1912 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Polyhydramn... |
OMIM:300998 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Short neck, Cryptorchidism, Patent ductus arteriosus, Clinodactyly, Cleft ... |
ORPHA:3338 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Depressed nasal bridge, Anteverted na... |
ORPHA:2311 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Thoracic scoliosis,... |
OMIM:142900 |
Trisomy 17P |
|
Skeletal muscle atrophy, Wide nose, Prominent nose, Tapered finger, Short neck, Patent ductus art... |
ORPHA:261290 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericard... |
ORPHA:77261 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Decreased response to growth... |
OMIM:615866 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Intestinal malrotati... |
ORPHA:457193 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, High pa... |
OMIM:608670 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Dental... |
OMIM:130720 |
Trigonocephaly 1 |
|
High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Long philtrum, Short nose, Meckel d... |
OMIM:190440 |
Chromosome 18Q Deletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Prominent nos... |
OMIM:601808 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
Geleophysic Dysplasia 2 |
|
Short palm, Thin upper lip vermilion, Hepatomegaly, Mitral stenosis, Tricuspid stenosis, Ovoid ve... |
OMIM:614185 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Tented upper lip vermilion, High palate, Bilateral coxa valga, Atrial sept... |
OMIM:615582 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Sh... |
OMIM:614613 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Ventricular septal defect, Depressed nasal bridge, Hypogonadotropic hypogonadism, ... |
OMIM:301030 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... |
ORPHA:364577 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Anosmia, Cleft palate, Bifid nose, Hyposmia, Clinodacty... |
OMIM:614838 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Short... |
ORPHA:264450 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Cryptorchidism, Polydactyly, Short nose, Hypoplastic ischia |
OMIM:616910 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Hurthle cell thyroid adenoma, Preaxial hand polydac... |
ORPHA:210548 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Maternal diabetes, Hemivertebrae, Dysplastic sacrum, Cryptorchidism, Hum... |
OMIM:134780 |
X Small Rings |
|
Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Anteverted nares, Ventricular se... |
ORPHA:96201 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Proximal placement of thumb, Short neck, Downturned corners of mouth, High... |
OMIM:610759 |
Marshall Syndrome |
|
Clinodactyly of the 5th finger, Small proximal tibial epiphyses, Thick upper lip vermilion, Bifid... |
OMIM:154780 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High palate, Widely spaced teeth, Prominent fingertip pads, Atrial septal ... |
OMIM:610443 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Tented upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Dental ... |
OMIM:612582 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Premature birth, Maturity-onset diabetes of ... |
ORPHA:96184 |
Parietal Foramina 1 |
|
Parietal foramina, Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Premature ... |
ORPHA:261330 |
Long Qt Syndrome 3 |
|
Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:603830 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Patent ... |
OMIM:617159 |
Lethal Kniest-Like Dysplasia |
|
Polyhydramnios, Edema, Mesomelic/rhizomelic limb shortening, Breech presentation, Short neck, Fla... |
ORPHA:2347 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Rocker bottom foot, Recurrent upper respiratory tract infections, Calc... |
ORPHA:3078 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Difficu... |
ORPHA:308552 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Cervical kyphosis, High palate, Abnormality of the cervical spine, Tapered... |
ORPHA:2953 |
Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short th... |
OMIM:600325 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High, narrow palate, Vertebral segmentation defect, Microdontia, Thick nas... |
ORPHA:96169 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Anteverted nares, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:1488 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Short neck, Bilateral cryptor... |
OMIM:300472 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Metaphyseal widening, Anterior atlanto-occipital dislocation, High p... |
ORPHA:536467 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Aganglionic megacolon, Tarsal synostosis, Cryptorch... |
ORPHA:2473 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Non-midline cleft lip, Postaxial hand polydactyl... |
ORPHA:2075 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Short philtrum, Short nose, Open mouth |
ORPHA:228384 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, D... |
OMIM:615398 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Preaxial hand polydactyly, Cleft palate, Atrial septal defect, Short nose |
ORPHA:79113 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, H... |
ORPHA:453499 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
Feingold Syndrome 1 |
|
Polyhydramnios, Asplenia, High palate, Accessory spleen, Anteverted nares, Esophageal atresia, Pa... |
OMIM:164280 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... |
ORPHA:884 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P... |
OMIM:213980 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Depressed nasal bridge, Rhizomelia, Cryptorchidism, Short palm, Short nose, Short ... |
ORPHA:93328 |
Giant Cell Arteritis |
|
Pericarditis, Diabetes insipidus, Epistaxis, Recurrent pharyngitis, Mediastinal lymphadenopathy, ... |
ORPHA:397 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... |
ORPHA:3097 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Anteverted nares, Abnormal cardiac ventricle morphology, Patent ductus art... |
ORPHA:2306 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Opsismodysplasia |
|
Hepatomegaly, Depressed nasal bridge, Tapered finger, Splenomegaly, Squared iliac bones, Hypoplas... |
ORPHA:2746 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Decreased fetal movement, Sacral dimple, Ant... |
OMIM:247200 |
Immunodeficiency 9 |
|
Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenesis imper... |
OMIM:612782 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Depressed nasal bridge, Anteverted nares, Edema, Overlapping toe, Pericardia... |
OMIM:617822 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Choanal atresia, Proximal pla... |
ORPHA:1896 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenita... |
OMIM:614294 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Depressed nasal bridge, Polyhydramnios, Short neck, Cryptorchidism, De... |
OMIM:610733 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Patent duct... |
ORPHA:1519 |
Oculodentodigital Dysplasia |
|
Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Broad columella, Finger sy... |
ORPHA:2710 |
Distal Deletion 10Q |
|
Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, Prominent fingertip ... |
ORPHA:96148 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma |
OMIM:120433 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Broad nasal ti... |
ORPHA:1655 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormal sweat g... |
OMIM:607823 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Alagille Syndrome |
|
Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Butterfly vertebral arch, Long n... |
ORPHA:52 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, In... |
OMIM:244450 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Congenital contracture, High palate, Scoliosis, Short nose |
OMIM:615042 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Shor... |
OMIM:605275 |
Opsismodysplasia |
|
Short metacarpal, Depressed nasal bridge, Anteverted nares, Anterior rib cupping, Edema, Metaphys... |
OMIM:258480 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Diabetes mellitus, Ventricular septal defect, Sandal gap, Narrow mouth,... |
OMIM:270450 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Facial palsy, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, C... |
ORPHA:2316 |
Stickler Syndrome, Type I |
|
Depressed nasal bridge, Anteverted nares, Arachnodactyly, Kyphosis, Irregular femoral epiphysis, ... |
OMIM:108300 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Broad columella, Long hallux, Abnormality of t... |
ORPHA:2308 |
Pde4D Haploinsufficiency Syndrome |
|
Prominent nose, Short metatarsal, Elevated circulating parathyroid hormone level, Short philtrum,... |
ORPHA:439822 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Premature birth, Cardiomegaly, Thrombocytopenia, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
Tetrasomy 18P |
|
Large hands, Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Long philtrum |
ORPHA:3307 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Wide nose, Diabetes mellitus, Anteverted nares, Down-sloping shoulders,... |
ORPHA:391408 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... |
OMIM:614416 |
Bohring-Opitz Syndrome |
|
Polyhydramnios, Flexion contracture, Atrial septal defect, Dislocated radial head, Syndactyly, De... |
OMIM:605039 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Cutaneous syndactyl... |
OMIM:617666 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... |
ORPHA:3282 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Lymphedema, Metaphyseal widening, Flexion contracture, Abnormal fing... |
ORPHA:536471 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Pancytopenia, Dilated cardiomyopathy, Cerebral edema |
OMIM:618321 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Lymphatic Malformation 5 |
|
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Cleft palate |
OMIM:153200 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Facial palsy, Pierre... |
ORPHA:1358 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brachycephaly, Cone-shap... |
OMIM:602849 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Anteverted nares, Short... |
ORPHA:1517 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... |
OMIM:601186 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Edema, Recurrent pharyngitis, Myocardit... |
ORPHA:2331 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arteries, P... |
OMIM:620025 |
Sweeney-Cox Syndrome |
|
Polyhydramnios, Asplenia, Bilateral cryptorchidism, High palate, Short philtrum, 2-5 toe syndacty... |
OMIM:617746 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Anteverted nares, Choanal atresia, Camptodactyly of finger, Abnormal rib morpholo... |
ORPHA:83 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl... |
OMIM:616580 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segmentation and ... |
ORPHA:90652 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Vertebral segm... |
ORPHA:251014 |
Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Clubbing of toes, Right ventricular dilatation, Clubbing of fingers, Per... |
ORPHA:99106 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Hypogonadotropic hypogonadism, Anosmia, Genu valgum, Abn... |
ORPHA:1295 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Nasal congestion |
OMIM:616037 |
Codas Syndrome |
|
Polyhydramnios, Proximal placement of thumb, Atrial septal defect, Atrioventricular canal defect,... |
OMIM:600373 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho... |
ORPHA:254534 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Ventricular septal defect, Increased overbite |
OMIM:618504 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Smith-Magenis Syndrome |
|
Tented upper lip vermilion, Abnormal form of the vertebral bodies, Short philtrum, Clinodactyly o... |
ORPHA:819 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Deep philtrum, Abnormal hea... |
ORPHA:314655 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Polyhyd... |
OMIM:614080 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Broad hallux, Depressed nasal bridge, Anteverted nares, Bulbous nose,... |
OMIM:614105 |
Seckel Syndrome 9 |
|
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic her... |
OMIM:616777 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Thick vermilion border, Long philtrum |
ORPHA:833 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Atrial septal defect, Spina bifida occulta, Hypoplastic cerv... |
OMIM:150250 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Cerebral edema |
OMIM:619355 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Patent ductus arteriosus... |
OMIM:277600 |
Cohen Syndrome |
|
High, narrow palate, Short philtrum, Neutropenia, Clinodactyly of the 5th finger, Finger syndacty... |
ORPHA:193 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Aplasia/Hypoplasia of the distal phalanges o... |
ORPHA:1234 |
Tarp Syndrome |
|
Meckel diverticulum, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of t... |
OMIM:311900 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Cleft pala... |
ORPHA:1135 |
Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal... |
OMIM:101600 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism |
OMIM:613730 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... |
OMIM:604757 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Decreased response to growth... |
OMIM:614732 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Submucous cleft ... |
OMIM:619103 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Palpebral edema, Kyphosis, Bulbous nose, Macr... |
ORPHA:261144 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryp... |
OMIM:613457 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Orofacial clef... |
OMIM:615630 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Cryptorchidism, Hemivert... |
ORPHA:77298 |
Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Narrow mouth, Wide nasal bridge, Cleft palate, Hypodontia, Tricuspid v... |
ORPHA:1973 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Overlappin... |
OMIM:612394 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Cryptorchidism, Thrombo... |
ORPHA:261250 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Scoliosis, Delayed puberty, Hypertrophic cardiomyopathy, Lower limb amyotrophy, S... |
ORPHA:496790 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital diaphragmatic hernia, Polyhydramnios, Short neck, High, narrow palate, Vertebral segme... |
ORPHA:373 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Increased fibular d... |
OMIM:258315 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Tented upper lip vermilion, Dental crowding, Macroorchidism, Short nose, Open mouth |
OMIM:300143 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Amniotic constriction ring, Cutaneous finger syndactyly, Aplasia... |
ORPHA:2369 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory sp... |
OMIM:618280 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tapered finger, Long fingers, Flexion contracture, Wide nasal bridge, Li... |
OMIM:218000 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Tapered finger, Short neck, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, ... |
OMIM:620250 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Facial palsy, Hyperlordosis, High, narrow palate, Submucous cleft hard... |
ORPHA:2780 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Underdeveloped nasal alae, Metatarsus a... |
ORPHA:436003 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Kyphosis, 2-3 toe syndac... |
OMIM:616449 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Knee flexion contracture, I... |
OMIM:305620 |
Congenital Myopathy 8 |
|
High palate, Cardiomegaly |
OMIM:618654 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Adrenal calcification, Edema, Cardiomegaly, Polyhydramnio... |
ORPHA:51608 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Lim... |
OMIM:619909 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Wide nose, Nonimmune hydrops fetalis, Short toe, Cutane... |
OMIM:617667 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... |
OMIM:614069 |
Agnathia-Otocephaly Complex |
|
Wide nose, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft... |
OMIM:202650 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi... |
OMIM:301044 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Arterial Tortuosity Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia, Pulmonary artery stenos... |
ORPHA:3342 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... |
ORPHA:2557 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypothyroidism |
OMIM:619908 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Primum atrial septal defect, Downturned corners of mouth, Exaggerated... |
ORPHA:2729 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hyperthyroidism, Diabetes mellitus, Facial palsy, Edema, Goiter, Quadriceps muscle weakness, Dila... |
ORPHA:254892 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Abnormal nasopharynx morphology, Ventricular septal defect, Anteverted ... |
OMIM:300000 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Prominent nasal bridge, Long nose, Pierre-Robin sequence, Cleft palate, Oligodon... |
OMIM:619184 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Neutropenia,... |
ORPHA:699 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... |
ORPHA:96191 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Talipes equinovarus, Tented upper lip vermilion, Brachycephaly, Long philtrum |
OMIM:619972 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Cleft palate, Bi... |
OMIM:611134 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Osteopathia striata, High palate, Atrial septal defect, Clinodac... |
OMIM:300373 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropenia, Lumbar interpedicular narrowing,... |
OMIM:271510 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Genu valgum, Downturned corners of mouth, Thin vermilion border, Short phil... |
ORPHA:2983 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Hydrops fetalis... |
ORPHA:288 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, Triangular mouth... |
OMIM:257300 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palat... |
OMIM:105650 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Premature birth, Abnormality of the dentition, Carious teeth, Cryptorchidism, ... |
ORPHA:1786 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bri... |
OMIM:616430 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Ventricular septal defect, Camptodactyly of finger, Polyh... |
ORPHA:3047 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Anteverted nares, Dextrocardia, Short neck, Precocious puberty, High, ... |
ORPHA:96092 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Thrombocytopenia, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops feta... |
ORPHA:79282 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Depressed nasal bridge, Polyhydramnio... |
OMIM:615503 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, High, narrow palate, Short philtrum, Atrial septal defect, Finger syn... |
ORPHA:464738 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Edema of the dorsum of feet, Edema of the dorsum of hands, Tapered finger, F... |
ORPHA:544503 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Micromelia, Postaxial polydactyly,... |
OMIM:617895 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Deep philtrum, High palate, ... |
OMIM:115150 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Pontocerebellar Hypoplasia, Type 8 |
|
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Talipes equinovarus, Sco... |
OMIM:614961 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop... |
ORPHA:3261 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Thin vermilion border, C... |
OMIM:610015 |
Leopard Syndrome 1 |
|
Scapular winging, Kyphoscoliosis, Short neck, Delayed menarche, Complete atrioventricular canal d... |
OMIM:151100 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy |
OMIM:613835 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Short neck... |
OMIM:615673 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Polyhydramnios, Contracture of the proximal interphalangeal joint of the 4th fin... |
OMIM:615485 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Short nose, Anteverted nares, Hypoplasia of teeth |
OMIM:234050 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Supernumerary nipple, Underdevelope... |
ORPHA:217346 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Patent ductus arteriosus, Alveolar ridge ... |
OMIM:602398 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Aplasia/Hypoplasia... |
ORPHA:2255 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ... |
OMIM:613038 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Prominent nasal bridge, Macrodontia, Protruding tongue, Diastema, Prox... |
OMIM:212066 |
Desmosterolosis |
|
Depressed nasal bridge, Intestinal malrotation, Micromelia, Abnormality of the nose, Metatarsus a... |
ORPHA:35107 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infec... |
OMIM:252920 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Rhizomelia, Bowing of the legs, Coxa valga, Cryptorchidism, Metaphysea... |
OMIM:617164 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Tapered... |
OMIM:618430 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prominent superficial veins, Dental crowding, Narrow nasal ridge, Insulin-resistant diabetes mell... |
OMIM:608612 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Thoracic scoliosis, Micromelia, Short neck, Cleft maxillary alveolar... |
ORPHA:508488 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Short nose, Abnormal vertebral morphology, Anemia |
ORPHA:99688 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal bridg... |
OMIM:616007 |
Chime Syndrome |
|
Short palm, Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, ... |
ORPHA:3474 |
Triploidy |
|
Hepatomegaly, Finger syndactyly, Intestinal malrotation, Polyhydramnios, Short neck, Cryptorchidi... |
ORPHA:3376 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, O... |
OMIM:616638 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Splenomegaly, Hydrocele t... |
OMIM:605309 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Cleft lip, Cryptorchidism, Dysplastic tricuspid valv... |
ORPHA:1724 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Short neck, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect... |
OMIM:617506 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Split hand, Foot polydactyly, Phocomelia, Duodenal atresia |
ORPHA:3004 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Depressed ... |
OMIM:252100 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Prominent nose, Atrial septal defect, Bifid uvula, Depressed nasal bridge, Tapered finger, Patent... |
OMIM:300968 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Fabry Disease |
|
Abnormal endocardium morphology, Transient ischemic attack, Malabsorption, Lymphedema, Thick lowe... |
ORPHA:324 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Tented upper ... |
OMIM:616723 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Ventricular septal defect, Polyhydramnios, Complete atriovent... |
OMIM:236680 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Polyhydramnios, Coxa... |
OMIM:619833 |
Alagille Syndrome 2 |
|
Long nose, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary art... |
OMIM:610205 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Cryptorchidism, Patent ductus ar... |
ORPHA:452 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... |
OMIM:618775 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abno... |
OMIM:258865 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Clinodactyly of the 5t... |
OMIM:274000 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Wide nose, Neoplasm of the adrenal cortex, Antever... |
ORPHA:109 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Short metatarsal, Tibial bowing, Short metacarpal, Radial bowing, Depressed nasal... |
OMIM:108720 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Peau d'orange, Pancytopenia, Ventricular septal defect, Postaxial polydactyly, Sple... |
OMIM:614576 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,... |
OMIM:618774 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Dental crowding, Short neck, Hyperlordosis, High, narrow palate, Crypt... |
ORPHA:2789 |
Dend Syndrome |
|
Anteverted nares, Elevated hemoglobin A1c, Dehydration, Downturned corners of mouth, Long philtru... |
ORPHA:79134 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Choanal atresia, Congenital diaphragmatic hernia, M... |
OMIM:613309 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... |
ORPHA:1791 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig... |
ORPHA:314575 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Polyhydramnios, Cleft upper lip, Short neck, Hemivertebrae, Cleft palate, Wide mouth, ... |
ORPHA:1394 |
Zttk Syndrome |
|
Flexion contracture, Hemivertebrae, Downturned corners of mouth, High palate, Short philtrum, Atr... |
OMIM:617140 |
Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect, Cryptorchidism |
OMIM:218350 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, High, narrow palate,... |
ORPHA:957 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Choanal stenosis, Triphalangeal thumb, Atr... |
OMIM:607323 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Premature birth, Dumbbell-shaped long bone, Micromelia, Rhizom... |
ORPHA:440354 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Short nose |
ORPHA:1514 |
Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Choanal atresia, Intestinal malrotation, Polyhydram... |
ORPHA:1199 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the 5th finger, Sho... |
OMIM:618828 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Short metatarsal, Hydrops fetalis, Short philtrum, Ab... |
OMIM:216340 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Geleophysic Dysplasia 1 |
|
Short palm, Hepatomegaly, Mitral stenosis, Anteverted nares, Tricuspid stenosis, Camptodactyly of... |
OMIM:231050 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Flexion contracture, Glossoptosis, High palate, Depressed nasal bridge, ... |
OMIM:254940 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Bilateral cryptorchidism, Distal widening of metacarpals... |
OMIM:602535 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop... |
ORPHA:158687 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Absent thumb, S... |
OMIM:609053 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Tibial bowing, Smooth tongue, Short tibia, Short phalanx of finger, Pursed lips, ... |
OMIM:601559 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Abnormal heart morphology, Abnormality of the vertebral column, A... |
OMIM:276950 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Leukodystrophy, Hypomyelinating, 10 |
|
Arachnodactyly, Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Short nose,... |
OMIM:616420 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Vertebral segmentation defect, High palate, Atrial septal defect... |
ORPHA:2745 |
Trisomy 20P |
|
Short neck, Abnormal form of the vertebral bodies, Downturned corners of mouth, Vertebral segment... |
ORPHA:261318 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Lymphedema, Premature ... |
ORPHA:1340 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, Anosmia, Cleft palate |
OMIM:612370 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d... |
ORPHA:163979 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, F... |
OMIM:619306 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
19P13.13 Microdeletion Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ... |
ORPHA:357001 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Choanal atresia, Cleft upper lip, Cryptorchidism, Anosmia, Cleft p... |
OMIM:147950 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Short n... |
OMIM:609460 |
Hajdu-Cheney Syndrome |
|
Short neck, High palate, Premature loss of teeth, Dislocated radial head, Anteverted nares, Crypt... |
OMIM:102500 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Hypo... |
OMIM:264090 |
Peho Syndrome |
|
Anteverted nares, Palpebral edema, Tapered finger, Open mouth, Gingival overgrowth, Pedal edema, ... |
ORPHA:2836 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Conge... |
OMIM:222448 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Short thumb, Ventricular septal defect, Short neck |
OMIM:610832 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Rec... |
OMIM:602450 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Tented upper lip vermilion, Decreased response to growth hormone stimula... |
ORPHA:488632 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Short metatarsal,... |
OMIM:617137 |
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 |
20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Palpebral edema, Periorbita... |
ORPHA:363659 |
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 |
Monosomy 22 |
|
Finger syndactyly, Wide nose, Aplasia of the thymus, Clubbing, Hypochromic microcytic anemia, Hep... |
ORPHA:96123 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Elevated circulating thyroid-stimulating hormone concentration, Tibial... |
OMIM:601812 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, High palate, Widel... |
OMIM:143095 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Thickened nuchal skin fold, Camptodactyly of finger, Prominent nasal bridge, Underdeveloped nasal... |
ORPHA:2083 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Dep... |
ORPHA:2753 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... |
OMIM:602875 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep philtrum, Depressed ... |
ORPHA:2162 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Hemivertebrae, Short palm, Thoracic hemi... |
OMIM:268310 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
3Mc Syndrome 1 |
|
Sacral dimple, Ventricular septal defect, Dental crowding, Diastasis recti, Cleft upper lip, Supe... |
OMIM:257920 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Polyhydramnios, Downturned corners of mouth, High palate, Widely spaced teeth, M... |
OMIM:618268 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Hepatomegaly, Polyhydramnios, Deep philtrum, Dental malocclusion, Contr... |
ORPHA:329178 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Ascites, Oligo... |
OMIM:614702 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Wide nose, Arachnodactyly, Cardiomegaly, Thin metatarsal cortices, Abnormal columella morphology,... |
ORPHA:2463 |
Ivic Syndrome |
|
Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, Hypoplasia of the ulna, L... |
OMIM:147750 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Choanal atresia, Cryptor... |
OMIM:300712 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect, Depressed nasal bridge |
OMIM:616901 |
Zellweger Syndrome |
|
Thickened nuchal skin fold, Hepatomegaly, Ventricular septal defect, Depressed nasal bridge, Prem... |
ORPHA:912 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Polyhydramnios, Bowing of the legs, Short neck, Lobulated tongue, Short palm, Patent foram... |
OMIM:269860 |
Trisomy 18 |
|
Ventricular septal defect, Choanal atresia, Congenital diaphragmatic hernia, Camptodactyly of fin... |
ORPHA:3380 |
Trisomy 10P |
|
Absent gallbladder, Decreased muscle mass, Thumb contracture, Depressed nasal bridge, Anteverted ... |
ORPHA:171929 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Ventricular septal defect, Palpebral edema, Lymphedema, Bulbous nose, Patent ductu... |
OMIM:606232 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Anteverted nares, Foot joint contracture, Tapered finger, Short neck, ... |
ORPHA:444072 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Distal Duplication 17Q |
|
Accessory spleen, Thin upper lip vermilion, Hallux valgus, Depressed nasal bridge, Arachnodactyly... |
ORPHA:3379 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal... |
ORPHA:355 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Kyphoscoliosis, Underdeveloped nasal alae, Tapered finger, Cryptorchidi... |
OMIM:615803 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ... |
ORPHA:60015 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem... |
OMIM:600920 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... |
OMIM:616602 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Congenital diaphragmatic hernia, Broad nasal... |
OMIM:618846 |
Lathosterolosis |
|
Bilobate gallbladder, High palate, Thick upper lip vermilion, Anteverted nares, Increased mean pl... |
OMIM:607330 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Wide nose, Villous atrophy, Anteverted nares, Ventricular septal defect, Polyhydram... |
OMIM:222470 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Foot oligodactyly, Triphalangea... |
OMIM:154400 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Swollen lip, Fetal akinesia sequence, Micromelia, Short neck, Calcaneovalgus defo... |
OMIM:256520 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Postaxial polydact... |
OMIM:614424 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Prematur... |
OMIM:615873 |
16P11.2P12.2 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Long nose... |
ORPHA:261211 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Thickened nuchal skin fold, Congenital muscular torticollis, Vertebral fusion, Macrodontia, Abnor... |
ORPHA:2916 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, High palate, Broad metacarpals, Short metacarpal, Lumbar hyperlordosis, Depress... |
OMIM:608328 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrow... |
ORPHA:561 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Ascending ... |
ORPHA:141127 |
Orofaciodigital Syndrome Type 2 |
|
Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity, Finger clinod... |
ORPHA:2751 |
Prolidase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Splenomegaly, Thrombocytopenia, Concave nasal ridge, High p... |
OMIM:170100 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Ctcf-Related Neurodevelopmental Disorder |
|
Short philtrum, Joint contracture of the 5th finger, Prominent fingertip pads, Atrial septal defe... |
ORPHA:363611 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Sandal gap, Depressed nasal bridge, Abnormal dental enamel morphology, Polyhydramnios, Supernumer... |
ORPHA:1812 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Decreased fetal movement, Decreased muscle mass, Ventricular septal de... |
ORPHA:2962 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Cleft lip, Cleft palate, Abnormal heart morphology, Abnormality of the sense of ... |
ORPHA:91412 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... |
OMIM:147891 |
Hajdu-Cheney Syndrome |
|
Short neck, Downturned corners of mouth, Periodontitis, Partial absence of toe, Hepatomegaly, Ant... |
ORPHA:955 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Anteverted nares, Choanal atresia, Cryptorchidism, Abnormal heart morp... |
ORPHA:494344 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Ventricular septal defect, Underdeveloped nasal alae, Abnormalit... |
ORPHA:166035 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Anal stenosis, Ventricular septal defect, Cleft soft palate, Polyhydramnios, Cario... |
OMIM:117650 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Short nose, Thick nasal alae, Supernumerary ribs |
ORPHA:163961 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Tapered finger, Short neck, Cryptorchidism, Dental malocclusion, Short... |
OMIM:616202 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Fasting hyperinsulinemia, High palate, Atrial septal defect, Advanced eruption o... |
ORPHA:769 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... |
OMIM:277170 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Non-midline cleft lip, Abnormality of the p... |
ORPHA:3429 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Thrombocytopenia, Patent ductus arteriosus, Flexion contracture... |
ORPHA:505248 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi... |
OMIM:617865 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Thickened nuchal skin fold, Bicuspid aortic valve, Anteverted nares, Mitral atresia, Aortic valve... |
OMIM:220111 |
Myhre Syndrome |
|
Short neck, Short philtrum, Atrial septal defect, Vertebral fusion, Pericardial effusion, Cleft l... |
OMIM:139210 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Hypoplastic nipples,... |
OMIM:603543 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Conical tooth, Abnormality of the dentition, Brachycephaly, Coron... |
ORPHA:228390 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Anteverted nares... |
OMIM:147791 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Premature birth, Congenital diaphragm... |
ORPHA:887 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Thin upper lip vermilion, Sandal gap, Prominent nose, Bulbous nose, Depressed nasal ridge, Hemive... |
OMIM:156200 |
Distal 22Q11.2 Microduplication Syndrome |
|
Depressed nasal ridge, High palate, Short philtrum, Camptodactyly of toe, Tapered finger, Cryptor... |
ORPHA:261337 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Villous atrophy, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Malabsorp... |
OMIM:557000 |
Osteoglophonic Dysplasia |
|
Short metatarsal, Eruption failure, High palate, Short palm, Short phalanx of finger, Pseudoarthr... |
OMIM:166250 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy, Chapped lip, Anal fissure, Perianal dermatitis |
ORPHA:294023 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Und... |
OMIM:300912 |
Distal Deletion 9P |
|
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose, B... |
ORPHA:1642 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Pedal edema, Abnormal heart morpho... |
ORPHA:2041 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Thick vermilion border, Cardiomegaly |
ORPHA:3137 |
Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly, Cleft p... |
ORPHA:1784 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Patent ductus arteriosus after premature birth, Postax... |
OMIM:618460 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... |
OMIM:614921 |
Kleefstra Syndrome 1 |
|
Natal tooth, Anteverted nares, Protruding tongue, Persistence of primary teeth, Cryptorchidism, C... |
OMIM:610253 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Glossoptosis, Atrial septal defect, Finger syndactyly, Anteverted n... |
ORPHA:2886 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Postax... |
ORPHA:2519 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Dilated cardiomyo... |
OMIM:603736 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Depressed nasal ridge, Gonadotropin deficiency, Hemivertebrae, Atrial septal ... |
ORPHA:672 |
Steinfeld Syndrome |
|
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ra... |
OMIM:184705 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Sacral dimple, Ventricular septal defect, Shor... |
ORPHA:2438 |
Distal Deletion 19P |
|
Long toe, Ventricular septal defect, Arachnodactyly, Cleft palate, Short philtrum, Tricuspid valv... |
ORPHA:96129 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Peters Plus Syndrome |
|
Polyhydramnios, Micromelia, Short neck, Bicuspid pulmonary valve, Abnormal pulmonary vein morphol... |
ORPHA:709 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Arachnodactyly, Bicuspid aortic valve, Transient ischemic attack, Cardiomegaly, Subarachnoid hemo... |
ORPHA:91387 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... |
OMIM:258860 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:609192 |
Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interphalangeal joints, ... |
OMIM:601358 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Rocker bottom foot, Congenital di... |
ORPHA:1272 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardi... |
OMIM:235200 |
Nablus Mask-Like Facial Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Short hallux... |
OMIM:608156 |
Degcags Syndrome |
|
Polyhydramnios, Prominent nose, Leukopenia, Iron deficiency anemia, High palate, Atrial septal de... |
OMIM:619488 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... |
OMIM:613091 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... |
OMIM:618748 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Conical incisor, Atrial septal defect, Microdontia, ... |
ORPHA:289 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Malan Syndrome |
|
Coxa valga, Long fingers, Gingival overgrowth, Everted lower lip vermilion, Narrow mouth, Advance... |
OMIM:614753 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:560 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Edema, Underdeveloped nasal alae, Carious teeth, Splenomegaly, Neutropeni... |
OMIM:604173 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, T lymph... |
OMIM:242860 |
Rhombencephalosynapsis |
|
Finger syndactyly, Anteverted nares, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal... |
ORPHA:59315 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Premature birth, Cardiomegaly, Esophageal atresia, Patent ductus arter... |
ORPHA:95430 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ... |
ORPHA:268261 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,... |
ORPHA:77301 |
Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underdeveloped nasal alae, Wi... |
ORPHA:894 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... |
OMIM:180700 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula... |
ORPHA:95699 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct... |
ORPHA:980 |
Vater/Vacterl Association |
|
Syndactyly, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, Absent r... |
OMIM:192350 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Thin vermilion border, H... |
OMIM:601853 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Downturned corners of mouth, Glossoptosis,... |
ORPHA:444077 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma |
OMIM:212550 |
Fryns Syndrome |
|
Tented upper lip vermilion, Ectopic pancreatic tissue, Polyhydramnios, Proximal placement of thum... |
OMIM:229850 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transpo... |
OMIM:313850 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Coxa vara... |
ORPHA:3107 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upp... |
OMIM:100300 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Hemivertebrae, Orofacial cleft, Abnormal form of the vertebral b... |
ORPHA:2322 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Wide nose, Depressed nasal bridge, Micromelia, Cleft upper lip, Preaxial hand polydactyly, Abnorm... |
ORPHA:93271 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abnormal rib morphology, Cleft pal... |
ORPHA:2167 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Downturned corners of mouth, Slender long bone, Thick vermilion border, Short nose |
ORPHA:1185 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Polyhydramnios, Proximal placement of thumb, Short neck, Abnorma... |
ORPHA:818 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Underdeveloped... |
OMIM:250410 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
Toluene Embryopathy |
|
Tapered finger, Cryptorchidism, Thin vermilion border, Short nose, Smooth philtrum |
ORPHA:1920 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal phalanges of the ... |
OMIM:271665 |
Ring Chromosome 7 Syndrome |
|
Short philtrum, Clinodactyly of the 5th finger, Median cleft palate, Bifid uvula, Anteverted nare... |
ORPHA:1449 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Depressed nasal ridge, Abnormal form of the vertebral bodies, Glossoptos... |
ORPHA:828 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Depressed nasal bridge, Anteverted nares, Denta... |
OMIM:619005 |
Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Situs inversus totalis, Bulbous... |
OMIM:309500 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Tented upper lip vermilion, Edema of the dorsum of feet,... |
ORPHA:521426 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Aganglionic megacolon, Polyhydramnios, Tapered finger, Intraventricular hemorrhage... |
OMIM:613603 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Polyhy... |
OMIM:619004 |
Meier-Gorlin Syndrome 6 |
|
Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal alae, Decreased respon... |
OMIM:616835 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Flexion contracture, Ventricular septal defect, Low APGAR score |
ORPHA:79243 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Premature birth, Sanda... |
OMIM:619229 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epiphyses ... |
ORPHA:93357 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
Tetrasomy 5P |
|
Anteverted nares, Overlapping toe, Short hallux, Short neck, Long fingers, Aplasia/Hypoplasia of ... |
ORPHA:3309 |
Cerebrooculonasal Syndrome |
|
U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial poly... |
OMIM:605627 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... |
ORPHA:3138 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Open bite, D... |
ORPHA:1974 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Rocker bottom foot, Edema, Postaxial polydactyly, Long fingers, Kypho... |
OMIM:617527 |
Mend Syndrome |
|
Thickened nuchal skin fold, Sacral dimple, Broad hallux, Prominent nasal bridge, Overlapping toe,... |
ORPHA:401973 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Hypoplasia of fi... |
OMIM:269150 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Depressed nasal bridge |
OMIM:618325 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Micromel... |
ORPHA:2021 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Metatarsus adductus... |
OMIM:227330 |
Distal Deletion 3P |
|
Sacral dimple, Anteverted nares, Short neck, Cryptorchidism, Postaxial hand polydactyly, Cleft pa... |
ORPHA:1620 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder, Cataract |
OMIM:617370 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Premature birth, Ankle flexion contracture, Breech presentat... |
OMIM:617802 |
Lathosterolosis |
|
Hepatomegaly, Toe syndactyly, Anteverted nares, Bulbous nose, Postaxial hand polydactyly, Gingiva... |
ORPHA:46059 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Unilateral cleft ... |
OMIM:610828 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Ventricular septa... |
ORPHA:2461 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Narrow mout... |
OMIM:601353 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:2117 |
Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Toe syndactyly... |
ORPHA:1512 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Bu... |
OMIM:619268 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Epistaxis, Microcytic anemia, Thrombocytopenia,... |
ORPHA:906 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Spinal rigidity, Dilated cardiomyopathy, Flexion contracture, Myocardial... |
OMIM:253800 |
Unilateral Ocular Duplication |
|
Encephalocele, Frontal bossing, Median cleft lip, Polyhydramnios, Cleft palate, Dolichocephaly |
ORPHA:3374 |
Craniotubular Dysplasia, Ikegawa Type |
|
Short palm, Metaphyseal dysplasia, Ventricular septal defect, Anteverted nares, Increased interve... |
OMIM:619727 |
Atelosteogenesis Type Ii |
|
Polyhydramnios, Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha... |
ORPHA:56304 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Micromelia, Proximal placement of thumb, High, narrow palate, Sh... |
OMIM:122470 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcane... |
ORPHA:522077 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cleft ... |
OMIM:251230 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hyp... |
OMIM:200995 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Slender... |
OMIM:618590 |
Penile Agenesis |
|
Ventricular septal defect, Depressed nasal bridge, Maternal diabetes, Rectal fistula, Cryptorchid... |
ORPHA:49 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Brachycephaly, Plagiocephaly, Short foot, Short palm, Car... |
ORPHA:53271 |
Pseudo-Torch Syndrome 3 |
|
Premature birth, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital throm... |
OMIM:618886 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Kyphoscoliosis, Flexion contracture, Narrow palate, Downturned corners of ... |
OMIM:614222 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated cardiomyopathy... |
OMIM:208000 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... |
OMIM:616300 |
Raine Syndrome |
|
Natal tooth, Bowing of the long bones, Depressed nasal bridge, Choanal atresia, Micromelia, Protr... |
OMIM:259775 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal fe... |
OMIM:271640 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Micromelia, Proximal placement of thumb, Short neck, Downturned ... |
ORPHA:199 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Prominent nasal bridge, Ankle flexion contracture, Polyhydramnios, Tap... |
ORPHA:464311 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Polyhydramnios, Clinodactyly of the 5th finger, Atrial septal defect, Tapered finger, Cryptorchid... |
ORPHA:459070 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Cardiomegaly, Long nose, Fetal akinesia seq... |
OMIM:618143 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Clinodactyly of the 5th finger, Abnor... |
ORPHA:464306 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Anteverted nares, Open bite, Splenomegaly, Abnormality of the parathyroid gla... |
ORPHA:2969 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Bilateral cryptorchidism, Flexion contracture, Short phalanx of finger, Patent forame... |
OMIM:263650 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Papillorenal Syndrome |
|
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o... |
OMIM:120330 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
3Mc Syndrome 2 |
|
Torticollis, Prominent nasal bridge, Hypoplasia of the musculature, Cleft upper lip, Partial abdo... |
OMIM:265050 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Dehydration, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic... |
OMIM:212140 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Lymphedema, Short neck, High, narrow palate, High palate, Atria... |
OMIM:163950 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Bowed humeru... |
OMIM:211350 |
Hardikar Syndrome |
|
Premature rupture of membranes, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Cleft s... |
OMIM:301068 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... |
OMIM:616682 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Wide nose, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal translucency,... |
ORPHA:1052 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Anteverted nares, Choanal atresia, Ventricular septal defect, C... |
OMIM:616975 |
Gapo Syndrome |
|
Hepatomegaly, Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Facial palsy, Reti... |
OMIM:230740 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Broad hallux, Accessory oral frenulum, Hamartoma of tongue, Bilateral ... |
ORPHA:434179 |
Restrictive Dermopathy |
|
Multiple joint contractures, Premature delivery because of cervical insufficiency or membrane fra... |
ORPHA:1662 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Ventricular septal defect, Butterfly vertebral ar... |
OMIM:118450 |
Micro Syndrome |
|
Anteverted nares, Cryptorchidism, Kyphosis, Wide nasal bridge, High palate, Short philtrum, Scoli... |
ORPHA:2510 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Clinodactyly of the 5th finger, Short ... |
ORPHA:2031 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Short lingual frenulum, Conge... |
ORPHA:96121 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Carpenter Syndrome 2 |
|
Short neck, Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Knee ... |
OMIM:614976 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Prominent nose, Aplasia of the epiglottis, High palate, Clinodactyly... |
OMIM:268305 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Finger syndactyly, Coarse metaphyseal trabecularization, Toe syndactyly, Abn... |
ORPHA:2092 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... |
OMIM:616468 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Atrial septa... |
OMIM:619522 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Carious teeth, High palate, Narrow mouth, Short nos... |
OMIM:219200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Amniotic constriction ring, Lip pit |
ORPHA:1072 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Ulnar deviation of the hand, Ventricular septal defect, Anteverted nares, Adrenal h... |
OMIM:214100 |
Myhre Syndrome |
|
Short palm, Precocious puberty, Cryptorchidism, Submucous cleft hard palate, Gingival cleft, Clef... |
ORPHA:2588 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Decreased fetal movement, Thymus hyperplasia, Arachnodactyly, Polyhydramnios, Type 1 muscle fiber... |
OMIM:619036 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Atrial septal defect, Long philtrum, Arachnodactyly, Hiatus hernia, Cryptorchidism, ... |
OMIM:601776 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal septum, High palate, Widely... |
OMIM:303600 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... |
OMIM:311200 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Kyphosis, Cleft palate, Glossoptosis, Clinodactyly of the 5th finger, ... |
ORPHA:1393 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Metaphyseal widening, Progressive alveolar ridge hypertropy, Hepatomegaly, Depresse... |
OMIM:252500 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Depressed nasal bridge, Premature birt... |
OMIM:619418 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Polyhydramnios, Short neck, Deep philtrum, Flexion contracture, Hemiv... |
ORPHA:96334 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha... |
OMIM:603116 |
Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Skeletal muscle atrophy, Anteverted nares, Wide mouth, Long philtrum, S... |
OMIM:103050 |
Renal Agenesis |
|
Ventricular septal defect, Talipes equinovarus, Anal atresia, Oligohydramnios |
ORPHA:411709 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Absent thumb, Absent rad... |
OMIM:227645 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Kyphosis, Triangular mouth, Talipes equinovarus, Scoliosis, Hand clenchin... |
OMIM:617988 |
Ayme-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Tapered finger, Abnormality of th... |
OMIM:601088 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Anteverted nares, Broad nasal tip, Carious teeth, Prominent veins on trunk... |
ORPHA:357074 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners... |
OMIM:194190 |
You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Kyphoscoliosis, Cleft palate, Coarctation of aorta, Vascular ring, Clino... |
OMIM:616954 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal thumb morphology,... |
ORPHA:500095 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
C Syndrome |
|
Congenital diaphragmatic hernia, Polyhydramnios, Micromelia, Short neck, High palate, Clinodactyl... |
ORPHA:1308 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Per... |
OMIM:613001 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Tapered toe, Cardiomegaly, Tapered finger, Long fingers, Bulbous nose, Di... |
OMIM:608836 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Abnormality of the dent... |
ORPHA:90154 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Atrial septal... |
ORPHA:353281 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, Thin vermilion border, High pa... |
OMIM:619869 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Clinodactyly, Syndactyly, Short nose |
OMIM:618087 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Meckel Syndrome, Type 1 |
|
Adrenal hypoplasia, Short neck, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Cleft u... |
OMIM:249000 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Short neck, Cryptorchidism, Patent ductus arteriosus, Wide n... |
ORPHA:2282 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... |
OMIM:610978 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Short nose, Short distal phalanx of finger |
OMIM:277450 |
Refsum Disease, Classic |
|
Cardiomyopathy, Short fourth metatarsal, Anosmia, Cardiomegaly |
OMIM:266500 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Depressed nasal bridge, Cardiomegaly, Lymphedema, Lip telangie... |
ORPHA:79280 |
Fanconi Anemia |
|
Abnormal femur morphology, Leukopenia, High palate, Triphalangeal thumb, Atrial septal defect, Cl... |
ORPHA:84 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High pa... |
ORPHA:1106 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypo... |
OMIM:206900 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Polyhydramnios, Adrenal hypoplasia, Cryptorchidism, Postaxial hand polyda... |
ORPHA:2166 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormality of the dentition, Congenit... |
ORPHA:261112 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... |
OMIM:268315 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Depressed nasal bridge, Anteverted nares, Abnormal thumb morphology, Cryptorchidi... |
ORPHA:2719 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Prominent nose, Abnormal periodontium morphology, High palate, Atrial septal defect, Depressed na... |
ORPHA:480880 |
Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate, Hypoplastic ... |
OMIM:119600 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Aplasia/Hypoplasia of the abdo... |
ORPHA:646 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Thick lower lip vermilion, Cranial asymmetry, Long philtrum |
ORPHA:137634 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect,... |
ORPHA:513456 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Cryptorchi... |
ORPHA:1300 |
Menke-Hennekam Syndrome 1 |
|
Deep philtrum, Depressed nasal ridge, Cutaneous syndactyly of toes, High palate, Short philtrum, ... |
OMIM:618332 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
Keutel Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Cartilaginous ossification of nose, Short hall... |
OMIM:245150 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Overlapping toe, Supernumerary nipple, Crypt... |
OMIM:613884 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Breech presentation, Flexion contracture, High palate, Talipes equinov... |
OMIM:614653 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platysp... |
OMIM:259770 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, High, narrow palate, Abnormal curvature of the vertebral column... |
OMIM:619475 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Breech presentation, Increased myocardial glycogen content, B... |
OMIM:261740 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Convex nasal ridge, Peripheral pulmonary artery stenosis, Long philtrum |
OMIM:123700 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Cataract |
OMIM:146200 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis... |
ORPHA:85199 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Genu valgum, Wide... |
OMIM:617798 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Kabuki Syndrome 1 |
|
Premature thelarche, High palate, Prominent fingertip pads, Atrial septal defect, Abnormal verteb... |
OMIM:147920 |
Renal Agenesis, Bilateral |
|
Fetal polyuria, Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft pa... |
ORPHA:1848 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral valve p... |
OMIM:617107 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Short philtrum,... |
OMIM:135900 |
Schinzel-Giedion Syndrome |
|
Short neck, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Choanal stenosis, ... |
ORPHA:798 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, D... |
ORPHA:26793 |
Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Polyhydramnios, Hypo... |
ORPHA:3144 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bridge, Short thumb, Super... |
OMIM:268400 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic ... |
ORPHA:465508 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Wide nasal bridge, High palate, Scoliosis, Long philtrum... |
OMIM:300749 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis, Hyperaldosteronism |
OMIM:602522 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Microcytic anemia,... |
OMIM:619525 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... |
OMIM:231005 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplas... |
OMIM:208900 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Genitopatellar Syndrome |
|
Polyhydramnios, Prominent nose, Knee flexion contracture, Anteriorly placed anus, Atrial septal d... |
OMIM:606170 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal... |
ORPHA:209905 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Microphthalmia, Meningocele, Anencephaly |
OMIM:603194 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, Polyhydramnios, Abnormal curvature of the vertebral colum... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, Polyhydramnios, Abnormal curvature of the vertebral colum... |
ORPHA:353277 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Dental crowding, Broad... |
OMIM:617157 |
Charge Syndrome |
|
Polyhydramnios, Abnormal tibia morphology, Hemivertebrae, Clinodactyly of the 5th finger, Depress... |
ORPHA:138 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly |
ORPHA:1129 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Depressed nasal bridge, High, narrow palate, Short philtrum, Caesarian... |
OMIM:619575 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hemivertebrae, Downturned corners of mouth, Short philtrum, Atrial septal defect, Bifid uvula, Ab... |
ORPHA:500150 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Atrial se... |
OMIM:270400 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Short nose, Anteverted nares, Narrow mouth |
OMIM:613735 |
Craniosynostosis And Dental Anomalies |
|
Flat occiput, Dental crowding, Brachycephaly, Coronal craniosynostosis, High palate, Short phalan... |
OMIM:614188 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Str... |
OMIM:603903 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Flexion contracture, Oligodontia, High palate, Short philtrum, Depressed... |
OMIM:309590 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... |
ORPHA:263479 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Flexion contracture, Scoliosis, Short nose |
OMIM:615851 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Early onset of sexual maturation, At... |
OMIM:194050 |
Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Hepatomegaly, Abnormal morphology of ulna, Abnormality of the dentit... |
ORPHA:93 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Ventricular se... |
OMIM:218040 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Polyhydra... |
OMIM:613406 |
Constricting Bands, Congenital |
|
Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, Scoliosis, Ecto... |
OMIM:217100 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corners of mouth, Short philt... |
OMIM:616268 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Thin upper lip vermilion, Rhizomelia, Decreased response to growt... |
ORPHA:319182 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cleft upper li... |
OMIM:615849 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Erythrodontia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of t... |
ORPHA:95159 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Achard Syndrome |
|
Broad skull, Arachnodactyly, Brachycephaly |
OMIM:100700 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Absent nipple, Depressed nasal bridge, Abnormal oral mucosa morpholo... |
OMIM:305100 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, Sandal gap, Broad nasal ti... |
OMIM:620330 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Finger clino... |
ORPHA:306542 |
Fucosidosis |
|
Hepatomegaly, Wide nose, Depressed nasal bridge, Coxa valga, Cardiomegaly, Splenomegaly, Thick lo... |
OMIM:230000 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Cryptorchidism, Short nose, Clinodactyly of the 4th toe,... |
OMIM:614225 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Depressed nasal ridge, Orofacial cleft, High palate, Atrial septal defect,... |
OMIM:607872 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly |
ORPHA:2189 |
Floating-Harbor Syndrome |
|
Short neck, Long nose, Oligodontia, Humeral pseudarthrosis, Short philtrum, Atrial septal defect,... |
ORPHA:2044 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Polyhydramnios, Short neck, Cryptorchidism, High palate, Pulmonic sten... |
OMIM:607721 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Palpebral edema, Metatarsus adductus, Splenomegaly, Cryp... |
OMIM:614866 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Erythrodontia, Nonimmune hydrops fetalis, Edema, Anisocytosis,... |
ORPHA:79277 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Ventricular septal defect, Broad hallux, Hamartoma of tongue, Cleft lip, Supernumera... |
OMIM:615948 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pulmonary artery sli... |
OMIM:235730 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Atr... |
OMIM:620024 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Edema of the dorsum of feet, Congenital diaphragmatic hernia, Polyhyd... |
OMIM:601803 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Unilateral cleft palate, Craniosynostosis, Abnormality of the d... |
ORPHA:1299 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Oculoauricular Syndrome |
|
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... |
OMIM:612109 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Thickened nuchal skin fold, Short femur, Cardiomegaly, Talipes equinovarus, Short tibia |
OMIM:620306 |
Eisenmenger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Clubbing, Pedal edema, Aortopu... |
ORPHA:97214 |
Proteus Syndrome |
|
Decreased muscle mass, Lymphedema, Neoplasm of the thymus, Abnormal finger morphology, Abnormal f... |
ORPHA:744 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Abnormal tibia morphology, Abnormal hea... |
ORPHA:363700 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia |
ORPHA:370959 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Arterial calcification, Coronary artery calcification, Cardiomegaly |
OMIM:614473 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Anteverted nares, Polyhydramnios, Short palm, Short nose, Brachydactyly |
ORPHA:3339 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Subarachnoid hemorrhage, Cardiomegaly, Splenomegaly, Macroglossia, Dilatation of th... |
OMIM:232300 |
Bohring-Opitz Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cardiomegaly, Cleft lip, Wide nasal bridge, Cleft palat... |
ORPHA:97297 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Stroke-like episode, Polycys... |
ORPHA:137675 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... |
OMIM:619426 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Talipes equ... |
OMIM:609128 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Cataract, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Anterior l... |
OMIM:308940 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Cherry red spot of the macula |
OMIM:268800 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Cardiomegaly, Eruption failure, Subvalvular aortic stenosis,... |
OMIM:182250 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Polyhydramnios, Proximal placement of thumb, Short ... |
OMIM:261540 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Abnormality of prenatal development or bi... |
ORPHA:33364 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Precocious puberty, Cleft pa... |
ORPHA:1934 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... |
OMIM:181450 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the dentition, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Short neck, Knee flexion contracture, High palate, Atrial septal defect, Wrist fl... |
OMIM:268300 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... |
OMIM:229400 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose |
OMIM:256600 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Necrotizing enterocolitis, Cardiomegaly |
OMIM:201475 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Cleft soft palate, Intestinal malrotation, Leukocytosis, Genu valgum, ... |
OMIM:619321 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Small hand |
OMIM:614947 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Adenoiditis, Avascular necrosis of the capital femoral epiphysis, Abn... |
ORPHA:581 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria... |
OMIM:619534 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide... |
OMIM:154500 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Atrial septal defect, Hypothyroidism, 2-4 finger syndactyl... |
OMIM:107480 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Cryptorchidism, Wide mouth, High palate, Short nose, Convex nasal ridge |
OMIM:300661 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Short nose |
OMIM:266810 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Flexion contracture, Triangular mouth, Hypogonadism, Short... |
OMIM:601675 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Stroke-like episode, Cardiomyopathy, Pulmonary edema, Cardiomegaly |
OMIM:105210 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Downturned corners of mouth, Atrial septal defect, Hypoplasia of the prim... |
OMIM:243800 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Hypoplasia of facial musculature, Block vertebrae, Cleft upper lip, Pa... |
OMIM:164210 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia |
ORPHA:2505 |
Cadds |
|
Short nose, Adrenal hypoplasia |
ORPHA:369942 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Prominent nose, Microcytic anemia, Elevated circulating thyroid-stimulating hormone... |
OMIM:256040 |
Proboscis Lateralis |
|
Ventricular septal defect, Choanal atresia, Proboscis, Agenesis of canine, Patent ductus arterios... |
ORPHA:141099 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Calcane... |
ORPHA:261552 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Thyroiditis, Lymphad... |
ORPHA:83471 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... |
OMIM:619991 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious... |
ORPHA:438213 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Myopathy, Neutro... |
ORPHA:506 |
Craniorachischisis |
|
Bifid sternum, Anal atresia, Sirenomelia |
ORPHA:63260 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:974 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Short nose, Adrenal insufficiency |
OMIM:614863 |
Beckwith-Wiedemann Syndrome |
|
Polyhydramnios, Cardiomegaly, Subchorionic septal cyst, Polycythemia, Hypothyroidism, Hepatomegal... |
ORPHA:116 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Developmental cataract |
OMIM:620185 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Abnormal finger morphology, Abnormality of dental color, Cranial asymmetry |
OMIM:163200 |
Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Pedal edema, Atrial septal defect, Hypothyroidism, A... |
ORPHA:821 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, High, narrow palate, Cardiomyopathy, Abnormal myocardium morphology |
ORPHA:228308 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele |
OMIM:613150 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Short nose, Thick vermilion border, Long philtrum |
OMIM:252160 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose, Thick vermilion border, Long philtrum |
OMIM:252150 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia |
OMIM:613451 |
Genitourinary And/Or Brain Malformation Syndrome |
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Syndactyly, Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Ileal atresia, Kyphoscolios... |
OMIM:618820 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Ad... |
OMIM:130650 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Microphthalmia |
OMIM:257850 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
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Microphthalmia |
OMIM:156610 |
1P21.3 Microdeletion Syndrome |
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Wide mouth, Short nose, Broad nasal tip |
ORPHA:293948 |
Vacterl With Hydrocephalus |
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Microphthalmia, Anophthalmia, Spina bifida |
ORPHA:3412 |
Joubert Syndrome 2 |
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Encephalocele, Microphthalmia |
OMIM:608091 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:615877 |
Curry-Jones Syndrome |
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Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
Lipodystrophy, Familial Partial, Type 7 |
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Narrow nasal ridge, Pulmonary arteriovenous malformation, Narrow mouth, Type I diabetes mellitus,... |
OMIM:606721 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia |
OMIM:236670 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Microphthalmia |
OMIM:302960 |
Aicardi-Goutières Syndrome |
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Diabetes mellitus, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Calcification of the aorta... |
ORPHA:51 |
Full Nf2-Related Schwannomatosis |
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Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Meckel Syndrome 14 |
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Microphthalmia, Occipital encephalocele |
OMIM:619879 |
Microphthalmia, Lenz Type |
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Microphthalmia |
ORPHA:568 |
Pelvis-Shoulder Dysplasia |
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Hydranencephaly, Bilateral microphthalmos, Spina bifida |
ORPHA:2839 |
8Q21.11 Microdeletion Syndrome |
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Microphthalmia |
ORPHA:284160 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Microphthalmia |
OMIM:618727 |
Xeroderma Pigmentosum, Complementation Group B |
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Microphthalmia |
OMIM:610651 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia |
OMIM:278730 |
Chromosome 8Q21.11 Deletion Syndrome |
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Microphthalmia |
OMIM:614230 |
Abetalipoproteinemia |
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Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Talipes equinovarus, Steatorrhea, Fa... |
ORPHA:14 |
Galloway-Mowat Syndrome 1 |
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Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Microphthalmia |
OMIM:300952 |
Incontinentia Pigmenti |
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Microphthalmia, Spina bifida occulta, Umbilical hernia |
ORPHA:464 |
Galloway-Mowat Syndrome 3 |
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Microphthalmia |
OMIM:617729 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia |
OMIM:110100 |
Stromme Syndrome |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Neuroocular Syndrome |
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Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
Cousin Syndrome |
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Hydranencephaly, Microphthalmia |
OMIM:260660 |
Hallermann-Streiff Syndrome |
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Microphthalmia, Spina bifida |
OMIM:234100 |
Ohdo Syndrome, X-Linked |
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Microphthalmia |
OMIM:300895 |
Fanconi Anemia, Complementation Group F |
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Microphthalmia |
OMIM:603467 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2250 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
1Q21.1 Microdeletion Syndrome |
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Microphthalmia |
ORPHA:250989 |
Fanconi Anemia, Complementation Group E |
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Microphthalmia |
OMIM:600901 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Momo Syndrome |
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Bilateral microphthalmos |
ORPHA:2563 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Microphthalmia |
ORPHA:85167 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Microphthalmia |
ORPHA:1236 |
Fanconi Anemia, Complementation Group A |
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Microphthalmia |
OMIM:227650 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Unilateral microphthalmos |
OMIM:618874 |
Dubowitz Syndrome |
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Hypoplasia of the iris, Microphthalmia |
OMIM:223370 |
Basal Cell Nevus Syndrome 1 |
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Microphthalmia, Spina bifida |
OMIM:109400 |
Incontinentia Pigmenti |
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Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Meckel Syndrome |
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Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:564 |
Linear Nevus Sebaceus Syndrome |
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Microphthalmia |
ORPHA:2612 |
Acro-Renal-Ocular Syndrome |
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Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Acrofrontofacionasal Dysostosis 1 |
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Microphthalmia |
OMIM:201180 |
Holoprosencephaly 9 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Oculocerebrorenal Syndrome Of Lowe |
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Buphthalmos, Microphthalmia, Umbilical hernia |
ORPHA:534 |
Microgastria-Limb Reduction Defect Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2538 |
Fanconi Anemia, Complementation Group D2 |
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Microphthalmia |
OMIM:227646 |
Fanconi Anemia, Complementation Group L |
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Microphthalmia |
OMIM:614083 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2526 |
Aicardi Syndrome |
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Microphthalmia, Spina bifida |
OMIM:304050 |
Hallermann-Streiff Syndrome |
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Microphthalmia |
ORPHA:2108 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia |
OMIM:127000 |
Cockayne Syndrome B |
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Hypoplasia of the iris, Microphthalmia |
OMIM:133540 |
Aicardi Syndrome |
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Microphthalmia |
ORPHA:50 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Microphthalmia |
OMIM:620005 |
Cockayne Syndrome Type 3 |
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Microphthalmia |
ORPHA:90324 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Microphthalmia |
OMIM:601552 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Frontal bossing, Natal tooth, Thin upper lip vermilion, Short femur, Camptodactyly of f... |
ORPHA:3455 |
Focal Dermal Hypoplasia |
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Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta |
OMIM:305600 |
Microphthalmia With Linear Skin Defects Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2556 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Roberts Syndrome |
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Microphthalmia |
ORPHA:3103 |
Cockayne Syndrome |
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Microphthalmia |
ORPHA:191 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
Fraser Syndrome |
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Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia |
OMIM:603457 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Microphthalmia |
OMIM:616734 |
Monosomy 13Q14 |
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Microphthalmia |
ORPHA:1587 |
Tetraamelia Syndrome 1 |
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Microphthalmia |
OMIM:273395 |
Fraser Syndrome 1 |
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Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Bilateral microphthalmos |
ORPHA:93325 |
Lowe Oculocerebrorenal Syndrome |
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Microphthalmia |
OMIM:309000 |
Branchiooculofacial Syndrome |
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Microphthalmia, Branchial anomaly, Anophthalmia |
OMIM:113620 |
Holoprosencephaly 1 |
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Microphthalmia |
OMIM:236100 |
Microphthalmia, Syndromic 6 |
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Microphthalmia, Anophthalmia |
OMIM:607932 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Townes-Brocks Syndrome |
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Microphthalmia |
ORPHA:857 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Microphthalmia |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Microphthalmia |
ORPHA:2152 |
Microphthalmia, Syndromic 1 |
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Microphthalmia, Anophthalmia |
OMIM:309800 |