Gene: Phc1 MGI:103248

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

polyhomeotic 1

Synonyms:

Mph1, rae28, Edr1, Rae-28

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Phc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Phc1 (2 diseases)
Human diseases predicted to be associated with Phc1 (1021 diseases)

The table below shows human diseases associated to Phc1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autosomal Recessive Primary Microcephaly		Thin upper lip vermilion	ORPHA:2512
Microcephaly 11, Primary, Autosomal Recessive			OMIM:615414

The table below shows human diseases predicted to be associated to Phc1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular...	OMIM:220210
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Ventricular septal defect, Fused cervical vertebrae, Short neck, Scoliosis, Clef...	OMIM:214300
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Ectopic anus, Anal atresia, Abnormal sacrum morphology, Abnormal shoul...	ORPHA:2345
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, High palate, Abnormality...	ORPHA:3098
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	High palate, Small hand, Pulmonic stenosis, Mitral valve prolapse, Clinodactyly of the 5th finger...	ORPHA:2868
3C Syndrome	Atrioventricular canal defect, Ectopic anus, Iris coloboma, Short neck, Cleft palate, Orofacial c...	ORPHA:7
Oculofaciocardiodental Syndrome	2-3 toe syndactyly, Abnormal cardiac septum morphology, Delayed eruption of teeth, Iris coloboma,...	ORPHA:2712
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Abnormal macrophage morphology, Calf muscle hyper...	ORPHA:353
Charge Syndrome	Hypothyroidism, Gonadotropin deficiency, Coloboma, Secundum atrial septal defect, Iris coloboma, ...	OMIM:214800
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Cardiomegaly, High palate, Narrow palate, Long ph...	OMIM:617022
Mesoaxial Hexadactyly And Cardiac Malformation	Patent ductus arteriosus, Ventricular septal defect, Torticollis, Hand polydactyly, Atrial septal...	OMIM:249670
Polyvalvular Heart Disease Syndrome	High palate, Pulmonic stenosis, Mitral valve prolapse, Short philtrum, Delayed skeletal maturatio...	ORPHA:228410
Digeorge Syndrome	Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Patellar dislocation, Bifid uvula, ...	OMIM:188400
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Global systolic dysfunction, Fusion of midcervical facet joints, Widening of cervical spinal cana...	OMIM:606842
Thrombocytopenia-Absent Radius Syndrome	Coxa valga, Patellar dislocation, Abnormal cardiac septum morphology, Hip dislocation, Cervical r...	ORPHA:3320
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Flexion contracture, High palate, Long philtrum, Acetabular dysplasia, E...	OMIM:616549
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ...	OMIM:615779
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Patent ductus arteriosus, Double outlet right ventricle, 2-3 toe syndactyly, High palate, Clubbin...	ORPHA:3304
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Select...	OMIM:305620
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Abnormal cardiac septum morphology, Upper limb phocomelia, Syndactyly, Abnormal hear...	ORPHA:294975
Classic Multiminicore Myopathy	High palate, Multiple joint contractures, Muscle fiber atrophy, Generalized amyotrophy, Spinal ri...	ORPHA:324604
Congenitally Uncorrected Transposition Of The Great Arteries	Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert...	ORPHA:860
Recombinant Chromosome 8 Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac...	OMIM:179613
Attrv122I Amyloidosis	Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abn...	ORPHA:85451
Cranioacrofacial Syndrome	Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect	OMIM:122850
Loeffler Endocarditis	Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard...	ORPHA:75566
Mucopolysaccharidosis, Type X	Hyperlordosis, Genu valgum, Long philtrum, Widely spaced teeth, Hip dysplasia, Thickened aortic v...	OMIM:619698
Congenital Heart Defects, Multiple Types, 2	Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec...	OMIM:614980
Craniofaciofrontodigital Syndrome	Finger joint hypermobility, Abnormal cerebral vascular morphology, Pericardial effusion, Gingival...	ORPHA:363705
Sifrim-Hitz-Weiss Syndrome	Patent ductus arteriosus, Tapered finger, Ventricular septal defect, Short femoral neck, Fused ce...	OMIM:617159
Double Outlet Right Ventricle	Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Aplas...	ORPHA:3426
Diamond-Blackfan Anemia 16	Anemia, Pulmonic stenosis, Atrial septal defect	OMIM:617408
Congenital Alveolar Capillary Dysplasia	Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Asplenia, Pulmo...	ORPHA:210122
Mucolipidosis Iii Gamma	Hyperlordosis, Genu valgum, Kyphosis, Flared iliac wing, Flat capital femoral epiphysis, Aortic r...	OMIM:252605
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Double outlet right ventricle, Vertebral fusion, Patent ductus arteriosus, Short l...	OMIM:618845
Emanuel Syndrome	Truncus arteriosus, Cleft palate, Sacral dimple, Ventricular septal defect, Atrial septal defect,...	OMIM:609029
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Gingivitis, Flexion contracture, Testicular torsion, Kyphoscoliosis, Narrow mouth, Skeletal muscl...	ORPHA:75496
8P23.1 Duplication Syndrome	Ventricular septal defect, Long philtrum, Toe syndactyly, Adrenal insufficiency, Tetralogy of Fal...	ORPHA:251076
Carpenter Syndrome 1	Precocious puberty, Coxa valga, Lateral displacement of patellae, Toe syndactyly, Flared iliac wi...	OMIM:201000
Ehlers-Danlos Syndrome, Classic-Like, 2	Shoulder dislocation, Hallux valgus, Hip dislocation, Short neck, Knee dislocation, Aortic root a...	OMIM:618000
Mucopolysaccharidosis, Type Ivb	Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ...	OMIM:253010
Ventricular Septal Defect 1	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall...	OMIM:614429
Anauxetic Dysplasia 1	Microdontia, Atlantoaxial dislocation, Elbow flexion contracture, Short neck, Limited elbow exten...	OMIM:607095
Emanuel Syndrome	Truncus arteriosus, Ectopic anus, Delayed eruption of teeth, Multiple joint contractures, Bifid u...	ORPHA:96170
Weill-Marchesani Syndrome	Ventricular septal defect, Limitation of joint mobility, Mitral regurgitation, Brachydactyly, Aor...	ORPHA:3449
Heart Defects-Limb Shortening Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Kyphosis, Death in infancy, Accelera...	ORPHA:1354
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short phalanx of finger, Ventricular hypertrophy, Shoulder dislocation, Camptodactyly of finger, ...	OMIM:143095
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spina bifida occulta, Everted lower lip vermilion, Delayed skeletal maturation, Short toe, Paroxy...	OMIM:617877
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Baraitser-Winter Syndrome 1	Patent ductus arteriosus, Cleft upper lip, Long philtrum, Wide mouth, Bicuspid aortic valve, Dupl...	OMIM:243310
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mit...	ORPHA:324410
Gaucher Disease, Type I	Pulmonary arterial hypertension, Anemia, Avascular necrosis, Erlenmeyer flask deformity of the fe...	OMIM:230800
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormality of the elbow, Deep philtrum, Thick lower lip vermilion, Hypertrophic cardiomyopathy, ...	ORPHA:2701
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed cranial suture closure, Hyperlordosis, Abnormal metaphysis morphology, Delayed eruption o...	ORPHA:2780
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Double outlet right ventricle, Patent foramen ovale, 2-3 toe syndactyly, Long philtrum, Ventricul...	ORPHA:477817
Hypoplastic Left Heart Syndrome 1	Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta	OMIM:241550
Stickler Syndrome, Type I	Arachnodactyly, Pierre-Robin sequence, Kyphosis, Arthropathy, Arthritis, Mitral valve prolapse, B...	OMIM:108300
Catel-Manzke Syndrome	Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Oral synechia, Clinodactyl...	ORPHA:1388
3P25.3 Microdeletion Syndrome	Tapered finger, 2-3 finger syndactyly, Overlapping toe, Broad hallux, Cleft palate, Sacral dimple...	ORPHA:435638
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis	OMIM:178651
Chromosome 18Q Deletion Syndrome	Ascending tubular aorta aneurysm, Toe syndactyly, Bifid uvula, Overlapping toe, Short neck, Cleft...	OMIM:601808
Brachydactyly, Type B1	Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Ve...	OMIM:113000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Hyperlordosis, Muscle fiber splitting, Flexion contracture, Increased variability in muscle fiber...	OMIM:253700
Spondylodysplastic Ehlers-Danlos Syndrome	Ascending tubular aorta aneurysm, Flexion contracture, Hallux valgus, Multiple joint contractures...	ORPHA:536471
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Atrioventricular canal defect, Asplenia, Butterfly vertebrae, Posterior rib fusion, Pulmonary art...	OMIM:265380
Monosomy 18Q	Hypothyroidism, Tapered finger, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Temple-Baraitser Syndrome	Long philtrum, Wide mouth, Long hallux, Atrial septal defect, Pseudoepiphysis of the thumb, Broad...	OMIM:611816
Thrombocytopenia-Absent Radius Syndrome	Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Patellar disloc...	OMIM:274000
Scheie Syndrome	Genu valgum, Aortic regurgitation, Spondylolisthesis, Short neck, Aortic valve stenosis	OMIM:607016
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Double outlet right ventricle, Narrow palate, T lymphocytopenia, Kyphos...	OMIM:618223
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Asplenia, Ventricular septal defect, Kyphosis, Camptodactyly, Clin...	OMIM:619123
Trisomy 17P	Patent ductus arteriosus, Flexion contracture, High palate, Tapered finger, Wide mouth, Thick ver...	ORPHA:261290
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis,...	OMIM:614262
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Absent thumb, Hypothyroidism, Decreased response to growth hormone stimulat...	OMIM:609053
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Right ventricular dilatation, Small hand, T...	OMIM:612863
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Atrioventricular canal defect, 2-3 toe syndactyly, Short 5th finger, Truncus arteriosus, Coloboma...	ORPHA:508498
Multiple Epiphyseal Dysplasia, Lowry Type	Knee flexion contracture, Genu valgum, Fixed elbow flexion, Fragmented epiphyses, Epiphyseal dysp...	ORPHA:166016
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Malformation of the hepatic duct...	OMIM:615415
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Broad phalanges of the hand, Tooth malposition, Narrow palate, Ventricu...	OMIM:277600
Fixed Subaortic Stenosis	Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,...	ORPHA:3092
Nemaline Myopathy 9	High palate, Ventricular septal defect, Nemaline bodies, Scoliosis, Cleft palate, Arthrogryposis ...	OMIM:615731
Williams-Beuren Syndrome (WBS)	Everted lower lip vermilion, Microdontia, Aortic valve stenosis	DECIPHER:3
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Bifid uvula, Submucous cleft hard palate, Atrial septal defect, Pulmonic stenosis	OMIM:619239
Nephronophthisis 16	Patent ductus arteriosus, Periportal fibrosis, Enlarged kidney, Hypertrophic cardiomyopathy, Situ...	OMIM:615382
Partial Atrioventricular Septal Defect	Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven...	ORPHA:1330
Kbg Syndrome	Vertebral fusion, Long philtrum, Thoracic kyphosis, Oligodontia, Cervical ribs, Thin upper lip ve...	ORPHA:2332
Atrial Septal Defect 2	Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal...	OMIM:607941
Coronary Arterial Fistula	Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ...	ORPHA:2041
Branchial Arch Syndrome, X-Linked	Cryptorchidism, High palate, Pulmonic stenosis, High, narrow palate	OMIM:301950
Pfeiffer-Palm-Teller Syndrome	Aortic valve stenosis, Enamel hypoplasia, Joint stiffness	ORPHA:2871
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Ventricular septal defect, Clinodactyly, Atrial septal defect, Short distal...	OMIM:614261
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Sterile abscess, High palate, Osteomyelitis, Spinal canal stenosis, Cutaneous abscess, Atrial sep...	OMIM:618282
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Hydrocele testis, Atrial sept...	OMIM:601927
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Wide mouth, Atrial septal defect, Hypertrophic cardiomyopathy, Short n...	OMIM:615279
Apert Syndrome	Delayed cranial suture closure, Ectopic anus, Delayed eruption of teeth, Humeroradial synostosis,...	OMIM:101200
Rhizomelic Syndrome	Bifid distal phalanx of the thumb, Complete duplication of thumb phalanx, Wide anterior fontanel,...	OMIM:268250
Truncus Arteriosus	Hypoplasia of the thymus, Truncus arteriosus, Tachycardia, Aplasia/hypoplasia involving bones of ...	ORPHA:3384
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio...	OMIM:618052
Kagami-Ogata Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Splenomegaly, Flexion contracture, Cox...	OMIM:608149
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val...	ORPHA:284169
Arthrogryposis, Distal, Type 3	Short phalanx of finger, Camptodactyly of finger, Bifid uvula, Overlapping toe, Short neck, Cleft...	OMIM:114300
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Kyphosis, Abnormal mitral valve morphology, Craniofa...	ORPHA:1724
Frontometaphyseal Dysplasia 2	Bifid uvula, Camptodactyly, Elbow contracture, Dislocated radial head, Cleft palate, Patent foram...	OMIM:617137
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Hypersplenism, Syndactyly, R...	OMIM:616028
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Joint stiffness, Pulmonic stenosis, Brachydactyly	OMIM:614819
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, High palate, Long philtrum, Ventricular septal defect, Wide anterior fontan...	ORPHA:457279
Legius Syndrome	High palate, Supravalvar pulmonary stenosis, Short neck, High, narrow palate	OMIM:611431
Cenani-Lenz Syndactyly Syndrome	Enamel hypoplasia, Hypoplasia of the radius, Hypodontia, Radioulnar synostosis, Hypoplasia of the...	OMIM:212780
Hajdu-Cheney Syndrome	Patellar dislocation, Osteolysis, Iris coloboma, Short neck, Hepatomegaly, Cleft palate, Splenome...	ORPHA:955
Weill-Marchesani Syndrome 2	Elbow flexion contracture, Ascending aortic dissection, Delayed skeletal maturation, Flexion cont...	OMIM:608328
Rhizomelic Chondrodysplasia Punctata, Type 2	Irregular vertebral endplates, High palate, Flexion contracture, Epiphyseal stippling, Submucous ...	OMIM:222765
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Mitral stenosis, Bifid uvula, Submucous cleft hard palate, Butterfly verte...	OMIM:617660
Verheij Syndrome	Vertebral fusion, Short 5th finger, Long philtrum, Abnormal cardiac septum morphology, Coloboma, ...	OMIM:615583
Eng-Strom Syndrome	Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Arthritis...	ORPHA:1937
Arterial Tortuosity Syndrome	Aortic tortuosity, Ventricular hypertrophy, Aortic root aneurysm, Flexion contracture, High palat...	OMIM:208050
Catel-Manzke Syndrome	Bifid uvula, Camptodactyly, Short femur, Hyperphalangy of the 2nd finger, Short neck, Ulnar devia...	OMIM:616145
Geleophysic Dysplasia 2	Pulmonary arterial hypertension, Long philtrum, Short foot, Mitral stenosis, Mitral valve prolaps...	OMIM:614185
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Diabetes mellitus, Parathyroid hypoplasia, Abnormal heart morphology, Hypoparathyroidism, Cleft p...	ORPHA:2237
Mucopolysaccharidosis, Type Ix	Hyperextensibility at wrists, Knee pain, Lumbar scoliosis, Finger joint hypermobility, Bifid uvul...	OMIM:601492
Atrial Fibrillation, Familial, 13	Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation	OMIM:615377
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Kyphosis, Fused cervical vertebrae, Abnormality of dental morphology, Short neck, ...	ORPHA:2522
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Vertebral clefting, 2-3 toe syndactyly, Long philtrum, Coxa vara, Short femoral neck, Velopharyng...	OMIM:614701
Marfanoid Habitus With Situs Inversus	Aortic root aneurysm, Kyphosis, Hyperextensibility of the finger joints, Mitral valve prolapse, A...	OMIM:609008
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Patent ductus arteriosus, Double outlet right ventricle, Asplenia, High palate, Unbalanced atriov...	OMIM:619657
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Abdominal sit...	OMIM:306955
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S...	OMIM:618469
Frontoocular Syndrome	High palate, Coronal craniosynostosis, Narrow philtrum, Atrial septal defect, Narrow mouth, Pulmo...	OMIM:605321
Lessel-Kreienkamp Syndrome	Patent ductus arteriosus, Dental malocclusion, Patent foramen ovale, Bicuspid aortic valve, Clino...	OMIM:619149
Myhre Syndrome	2-3 toe syndactyly, Pericardial effusion, Camptodactyly, Overlapping toe, Short neck, Radial devi...	OMIM:139210
Koolen-De Vries Syndrome	Hip dislocation, Everted lower lip vermilion, Slender finger, Cleft palate, Prominent metopic rid...	OMIM:610443
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Intrahepatic biliary atresia, Patent foramen ovale, Ventricular septal defect, Death in infancy, ...	OMIM:208085
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular septal defect, Vertebral s...	ORPHA:1166
Intellectual Developmental Disorder, Autosomal Recessive 73	Thick upper lip vermilion, Patent ductus arteriosus, Ventricular septal defect, Deep philtrum, Wi...	OMIM:619717
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Double outlet right ventricle, Leukopenia, Coxa valga, Ventricular septal defect, Pulmonary arter...	OMIM:301056
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Fused cervical vertebrae, Type II diabetes mellitus, Anal atresia, Abnorm...	ORPHA:1436
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Volvulus, Decreased testicular size, Left ventricular hypertrophy, Club...	ORPHA:335
Dominant Beta-Thalassemia	Hypothyroidism, Adrenal insufficiency, Extramedullary hematopoiesis, Hepatocellular carcinoma, Hy...	ORPHA:231226
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, High palate, Widely spaced teeth, Perimembranous ventricular septal defect, Ta...	OMIM:618205
Congenital Gerbode Defect	Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Vascular dilatati...	ORPHA:99095
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Thick vermilion border	OMIM:618499
Tyshchenko Syndrome	High palate, Narrow palate, Ventricular septal defect, Supernumerary nipple, Atrial septal defect...	OMIM:615102
Chops Syndrome	Patent ductus arteriosus, Patent foramen ovale, Splenomegaly, Long philtrum, Ventricular septal d...	OMIM:616368
Noonan Syndrome 8	Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Atrial septal ...	OMIM:615355
Kniest Dysplasia	Dumbbell-shaped long bone, Short neck, Enlarged joints, Delayed patellar ossification, Cleft pala...	ORPHA:485
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Int...	OMIM:616201
Frontometaphyseal Dysplasia	Short diaphyses, Short phalanx of finger, Camptodactyly of finger, Wrist flexion contracture, Elb...	ORPHA:1826
Jacobsen Syndrome	Abnormality of the anus, Ectopic anus, Toe syndactyly, Hip dislocation, Iris coloboma, Short neck...	ORPHA:2308
Cardiac Diverticulum	Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,...	ORPHA:1686
Dandy-Walker Malformation With Postaxial Polydactyly	Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation, Postaxial hand polydactyly	OMIM:220220
Duane-Radial Ray Syndrome	Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Iris colob...	OMIM:607323
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, He...	OMIM:612541
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Lymphopenia, Abnormal aortic...	ORPHA:2306
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap...	ORPHA:370010
Beta-Thalassemia Major	Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hypoplasia of the musculature, H...	ORPHA:231214
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Fused cervical vertebrae, Butterfly vertebrae, Submucous cleft hard palate, S...	OMIM:619227
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent ductus arteriosus, Patent foramen ovale, Anemia, Delayed eruption of teeth, Elliptocytosis...	OMIM:300990
Lymphoid Interstitial Pneumonia	Cor pulmonale, Aortic valve stenosis, Clubbing	OMIM:247610
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Pulmonary insufficiency, Portal vein hypoplasia, Death in infancy, Po...	OMIM:619433
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve	OMIM:615599
Noonan Syndrome 2	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, High pa...	OMIM:605275
Noonan Syndrome 14	Long philtrum, Kyphosis, Wide mouth, Mitral valve prolapse, Clinodactyly, Lymphopenia, Aortic reg...	OMIM:619745
Costello Syndrome	Narrow palate, Ventricular septal defect, Thickened Achilles tendon, Thick lower lip vermilion, M...	ORPHA:3071
Myhre Syndrome	Precocious puberty, Abnormal cardiac septum morphology, Large iliac wing, Abnormal lip morphology...	ORPHA:2588
Multiple Pterygium Syndrome, Escobar Variant	Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b...	OMIM:265000
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Death in infancy, Hip dysplasia, Jaundice, Nephrogenic diabetes insipi...	OMIM:613404
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy	ORPHA:79159
Noonan Syndrome 10	Patent ductus arteriosus, High palate, Ventricular septal defect, Mitral stenosis, Mitral valve p...	OMIM:616564
Shashi-Pena Syndrome	Patent ductus arteriosus, Kyphosis, Short metacarpal, Dilation of Virchow-Robin spaces, Limb hype...	OMIM:617190
Noonan Syndrome 4	Dental malocclusion, Ventricular septal defect, Wide mouth, Atrial septal defect, Hypertrophic ca...	OMIM:610733
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Delayed closure of the anterior fontanelle, Short 5th finger, Toe syndactyly, Microdontia, Short ...	OMIM:610759
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Long philtrum, Thick lower lip vermilion, Accelerated skeletal maturation, Thin upper lip vermili...	ORPHA:137634
Microphthalmia, Syndromic 2	2-3 toe syndactyly, Hypothyroidism, Flexion contracture, Delayed eruption of teeth, Adrenal insuf...	OMIM:300166
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Genu varum, Arteriovenous malformation, Abnormal aortic arch morphology, Downturned corners of mo...	ORPHA:1110
Aortic Valve Disease 3	Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Death in infancy, Jaundice, Epiphyseal stippling, Hepatomegaly, Glosso...	OMIM:614876
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Abnormality of the lymphatic system, Pulmonic stenosis, Cryptorchidism	ORPHA:638
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Pineal cyst, Left ventricular noncompaction, Submucous cleft soft palate, Synostos...	OMIM:300967
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Facial telangiectasia, Hallux valgus, Elbow flexion contracture, Camptod...	OMIM:602782
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Sacral dimple, Ventricular septal defect, Thick lower lip vermilion, Short philtrum, Atrial septa...	OMIM:608227
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C3/C4 vertebral fusion, Iris coloboma, Chorioretinal coloboma, Thoracic scoliosis, Cervi...	OMIM:613702
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Foot polydactyly, Vertebral segmentation def...	ORPHA:3186
Right Atrial Isomerism	Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr...	OMIM:208530
Chromosome 1P36 Deletion Syndrome, Proximal	Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ...	OMIM:619343
Holoprosencephaly 13, X-Linked	Vertebral clefting, Patent foramen ovale, Double outlet right ventricle, Patent ductus arteriosus...	OMIM:301043
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow extension, Abno...	ORPHA:93359
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Hepatic bridging fibrosis, L...	OMIM:613759
Noonan Syndrome 12	11 pairs of ribs, Decreased response to growth hormone stimulation test, Ventricular septal defec...	OMIM:618624
Noonan Syndrome 9	Ventricular septal defect, Coarctation of aorta, Short neck, Cryptorchidism, Pulmonic stenosis	OMIM:616559
Teebi-Shaltout Syndrome	Ventricular septal defect, Wide mouth, High, narrow palate, Caudal appendage, Oligodontia, Campto...	OMIM:272950
Meckel Syndrome, Type 7	Patent ductus arteriosus, Pancreatic cysts, Biliary cirrhosis, Atrial septal defect, Hepatospleno...	OMIM:267010
Takenouchi-Kosaki Syndrome	Patent ductus arteriosus, Dental malocclusion, Tapered finger, Long philtrum, Wide mouth, Widely ...	OMIM:616737
Aortic Valve Disease 2	Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of...	OMIM:614823
Multiple Pterygium Syndrome, X-Linked	Increased susceptibility to fractures, Vertebral fusion, Cleft upper lip, Flexion contracture, Ab...	OMIM:312150
Tarp Syndrome	Short sternum, Pierre-Robin sequence, Postaxial polydactyly, Finger syndactyly, Tongue nodules, A...	ORPHA:2886
Thakker-Donnai Syndrome	Ventricular septal defect, Anal atresia, Tracheoesophageal fistula, Congenital diaphragmatic hern...	ORPHA:1780
Robinow Syndrome	Marked delay in eruption of permanent teeth, Bifid tongue, Gingival overgrowth, Orofacial cleft, ...	ORPHA:97360
Buratti-Harel Syndrome	High palate, Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Bifid uvula, Submuco...	OMIM:619314
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Cr...	OMIM:619103
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Tapered finger, Narrow palate, Jejunal atresia, T...	OMIM:612949
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Diamond-Blackfan Anemia 6	Patent ductus arteriosus, Ventricular hypertrophy, Cleft upper lip, Triphalangeal thumb, Ventricu...	OMIM:612561
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Scoliosis, Prominent metopic ridg...	OMIM:309620
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Hyperlordosis, Limited knee flexion/extension, Right bundle branch block, Limited elbow movement,...	ORPHA:268
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hyperechogen...	OMIM:208540
Femoral-Facial Syndrome	Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo...	OMIM:134780
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Pulmonic stenosis, Chylopericardium, Congestive heart failure, H...	ORPHA:2414
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sagittal craniosynostosis, Small hand, Widely spaced teeth, Camptodactyly, Atrial septal defect, ...	ORPHA:459061
Noonan Syndrome 5	Wide mouth, Atrial septal defect, Hypertrophic cardiomyopathy, Short neck, Cryptorchidism, Arrhyt...	OMIM:611553
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Supernumerary nipple,...	OMIM:312870
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Left ventricular outflow tract obstruction, Right aortic arch, Hyp...	OMIM:613854
Cardiospondylocarpofacial Syndrome	Pseudoepiphyses, Delayed skeletal maturation, Patent foramen ovale, Fusion of middle ear ossicles...	OMIM:157800
Mend Syndrome	Sacral dimple, 2-3 toe syndactyly, High palate, Wide anterior fontanel, Kyphosis, Limb hypertonia...	ORPHA:401973
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Abnormal cardiac septum morphology, Abnormal testis morphology, Macroglossia,...	ORPHA:96147
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Deep philtrum, Ventricular septal defect, T...	ORPHA:261120
Atelosteogenesis, Type I	Vertebral hypoplasia, Distal tapering femur, Short femur, Elbow dislocation, Short neck, Cleft pa...	OMIM:108720
Meacham Syndrome	Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co...	ORPHA:3097
Acquired Von Willebrand Syndrome	Hypotension, Normocytic anemia, Intracranial hemorrhage, Epistaxis, Aortic regurgitation, Melena,...	ORPHA:99147
Singleton-Merten Syndrome 2	Osteolytic defects of the phalanges of the hand, Scoliosis, Osteopenia, Arrhythmia, Joint subluxa...	OMIM:616298
Roifman Syndrome	Biconvex vertebral bodies, Short toe, Irregular vertebral endplates, Hip contracture, Long philtr...	OMIM:616651
Velocardiofacial Syndrome	Pierre-Robin sequence, Ventricular septal defect, Interrupted aortic arch, Velopharyngeal insuffi...	OMIM:192430
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Diaphragmatic eventratio...	OMIM:601186
Holt-Oram Syndrome	Atrioventricular canal defect, Absent thumb, Phocomelia, Abnormal rib morphology, Ventricular sep...	ORPHA:392
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tapered finger, Delayed eruption of teeth, Camptodactyly, Overlapping toe, P...	OMIM:619148
Cardiofaciocutaneous Syndrome 4	Decreased response to growth hormone stimulation test, Abnormal aortic valve morphology, Joint la...	OMIM:615280
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia...	OMIM:615285
Noonan Syndrome 7	Atrial septal defect, Joint hypermobility, Hypertrophic cardiomyopathy, Short neck, Abnormal esop...	OMIM:613706
Noonan Syndrome 6	Hypertrophic cardiomyopathy, Short neck, Juvenile myelomonocytic leukemia, Cryptorchidism, Pulmon...	OMIM:613224
Cat Eye Syndrome	Patent ductus arteriosus, Biliary atresia, Rectal fistula, Ventricular septal defect, Volvulus, A...	OMIM:115470
Williams Syndrome	Sudden cardiac death, Peptic ulcer, Hypothyroidism, Aortic arch aneurysm, Colonic diverticula, Ha...	ORPHA:904
Spinal Muscular Atrophy, Type I	Proximal amyotrophy, Ventricular septal defect, Spinal muscular atrophy, Atrial septal defect, To...	OMIM:253300
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Intervertebral disc degeneration, Osteochondritis dissecans, Bifid uvula...	ORPHA:284984
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Arthrogryp...	OMIM:178110
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Stomatitis, Osteolysis, Osteopenia, Hepato...	OMIM:612852
Cardiofaciocutaneous Syndrome 1	Dental malocclusion, Splenomegaly, High palate, Deep philtrum, Hyperextensibility of the finger j...	OMIM:115150
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Bifid uvula, Short neck, Delayed skeletal maturation, Smooth philtrum, Peripheral pulmonary arter...	OMIM:617506
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Tracheomalacia, Short neck, Sacral dimple, Ventricular septal defect, Aor...	ORPHA:96121
Lateral Meningocele Syndrome	Patent ductus arteriosus, Biconcave vertebral bodies, Vertebral fusion, High palate, Long philtru...	OMIM:130720
Multiple Pterygium Syndrome, Lethal Type	Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ...	OMIM:253290
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Pulmonic stenosis, Facial te...	OMIM:620141
Coffin-Siris Syndrome 4	Patent ductus arteriosus, Mitral atresia, Short 5th finger, Everted upper lip vermilion, Long phi...	OMIM:614609
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tapered finger, Short neck, Smooth philtrum, Peripheral pulmonary artery stenosis, Thin lower lip...	ORPHA:280633
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Abnormal rib morphology, Cleft...	OMIM:118100
Campomelic Dysplasia	Irregular dentition, Short phalanx of finger, Hallux valgus, Hip dislocation, Tracheomalacia, Met...	OMIM:114290
Beta-Thalassemia Intermedia	Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr...	ORPHA:231222
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Hallux valgus, Small cervical vertebral bodies, Widely spaced teeth, Short 1s...	OMIM:135100
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Pulmonary artery ...	OMIM:185500
Chromosome 16P13.3 Duplication Syndrome	Tapered finger, Microdontia, Bifid uvula, Hip dislocation, Camptodactyly, Short neck, Smooth phil...	OMIM:613458
Intellectual Developmental Disorder, Autosomal Dominant 43	High palate, Tapered finger, Hip dysplasia, Short philtrum, Thin upper lip vermilion, Narrow mout...	OMIM:616977
Marden-Walker Syndrome	Camptodactyly of finger, Bifid uvula, Metatarsus adductus, Aplasia/Hypoplasia involving the skele...	ORPHA:2461
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Supernumerary nipple, Tricuspid regurgitation, Patent foramen ovale, Abnormal card...	ORPHA:466791
Kabuki Syndrome 2	Dental malocclusion, Atrioventricular canal defect, High palate, Lower lip pit, Natal tooth, Shor...	OMIM:300867
Serkal Syndrome	Ventricular septal defect, Malrotation of small bowel, Congenital diaphragmatic hernia, Abnormali...	ORPHA:139466
Intellectual Developmental Disorder, Autosomal Dominant 52	Hypothyroidism, High palate, Lumbar scoliosis, Bilateral cryptorchidism, Short philtrum, Downturn...	OMIM:617796
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Short neck, Short dist...	ORPHA:2516
Cutis Laxa, Autosomal Recessive, Type Ic	Patent foramen ovale, Vascular dilatation, Hypoplasia of the thymus, Long philtrum, Morgagni diap...	OMIM:613177
Geleophysic Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Long philtrum, Wide mouth, Short ...	OMIM:231050
Sonoda Syndrome	Narrow mouth, Ventricular septal defect	OMIM:270460
Contractural Arachnodactyly, Congenital	Wrist flexion contracture, Patellar dislocation, Patellar subluxation, Elbow flexion contracture,...	OMIM:121050
Synaptic Congenital Myasthenic Syndromes	Pulmonary arterial hypertension, Abnormality of the knee, High palate, Limited wrist extension, T...	ORPHA:98915
Asymmetric Short Stature Syndrome	Fused cervical vertebrae, Dental crowding, Lumbar scoliosis	OMIM:108450
Pelger-Huet Anomaly	Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Ventricular septal defect, Kyphosis, S...	OMIM:169400
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Long philtrum, Deep philtrum, Finger joint hypermobility, Bicuspid aortic valve, Joint laxity, He...	OMIM:613563
Viss Syndrome	Aortic tortuosity, Hypothyroidism, Ascending tubular aorta aneurysm, Bifid tongue, Cleft soft pal...	OMIM:619472
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Coloboma, Patellar dislocation, Broad hallux, Delayed skeletal maturation, Talon cusp, Narrow pal...	ORPHA:353281
Congenital Aortic Valve Stenosis	Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,...	ORPHA:3093
Mmep Syndrome	Triphalangeal thumb, Ventricular septal defect, Median cleft lip, Split foot, Cryptorchidism, Oro...	ORPHA:3434
Koolen-De Vries Syndrome	Hypothyroidism, Vertebral fusion, Narrow palate, Kyphosis, Abnormal cardiac septum morphology, Ve...	ORPHA:96169
Palatopharyngeal Incompetence	Cleft palate, Velopharyngeal insufficiency	OMIM:167500
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Long philtrum, Ventricular septal defect, Joint laxity, Atrial septal defect,...	ORPHA:401935
Spondylocostal Dysostosis 4, Autosomal Recessive	Unilateral vertebral artery hypoplasia, Vertebral fusion, Ectopic anus, Block vertebrae, Aplasia ...	OMIM:613686
Ring Chromosome 21 Syndrome	Diabetes insipidus, Small hand, Thoracic hemivertebrae, Clinodactyly, Syndactyly, Abnormal heart ...	ORPHA:1445
Transaldolase Deficiency	Hepatosplenomegaly, Short neck, Hepatomegaly, Thrombocytopenia, Splenomegaly, Patent foramen oval...	OMIM:606003
Cardiac Valvular Dysplasia 2	Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i...	OMIM:620067
Brittle Cornea Syndrome	Increased susceptibility to fractures, Hallux valgus, Hip dysplasia, Mitral valve prolapse, Campt...	ORPHA:90354
Lamb-Shaffer Syndrome	Thoracic kyphosis, Fused cervical vertebrae, Hip dysplasia, Scoliosis, Thick vermilion border	ORPHA:530983
Tbck-Related Intellectual Disability Syndrome	2-3 toe syndactyly, Hypothyroidism, Short neck, Delayed skeletal maturation, Prominent metopic ri...	ORPHA:488632
Desmosterolosis	Patent ductus arteriosus, Increased bone mineral density, Bifid uvula, Submucous cleft hard palat...	ORPHA:35107
Zttk Syndrome	Flexion contracture, Bifid uvula, Cervical ribs, Intestinal atresia, Ventricular septal defect, A...	OMIM:617140
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Short toe, Joint dislocation, Tapered finger, Short 4th metacarpal, Hypo...	ORPHA:3201
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Perimembranous ventricular septal ...	ORPHA:83617
Hereditary Spherocytosis	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti...	ORPHA:822
X-Linked Mandibulofacial Dysostosis	High palate, Branchial anomaly, Abnormal mitral valve morphology, Abnormality of the pulmonary ar...	ORPHA:1131
Hypophosphatemic Rickets, Autosomal Recessive, 2	Genu varum, Genu valgum, Coxa valga, Hypophosphatemic rickets, Delayed skeletal maturation, Cario...	OMIM:613312
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Coxa valga, Left ventricular diastolic dysfunction, Pubertal development...	ORPHA:740
Complete Atrioventricular Septal Defect	Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir...	ORPHA:1329
Osteopetrosis, Autosomal Recessive 2	Anemia, Genu valgum, Osteomyelitis, Recurrent fractures, Pancytopenia, Hepatosplenomegaly, Diaphy...	OMIM:259710
Craniosynostosis 1	Sagittal craniosynostosis, Systolic heart murmur, Right unicoronal synostosis, Aortic valve steno...	OMIM:123100
Dubowitz Syndrome	Delayed cranial suture closure, Delayed eruption of teeth, Toe syndactyly, Acute lymphoblastic le...	ORPHA:235
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Congenital muscular dystrophy...	OMIM:607155
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Cleft upper lip, Precocious puberty, Bifid uvula, Scoliosis, Dysplastic pulmonary valve, Cleft pa...	OMIM:300958
Feingold Syndrome Type 2	Jejunal atresia, Ventricular septal defect, Toe syndactyly, Brachydactyly, Short thumb, Short mid...	ORPHA:391646
Cardiofaciocutaneous Syndrome	Genu valgum, High palate, Long philtrum, Submucous cleft hard palate, Abnormal heart valve morpho...	ORPHA:1340
Feingold Syndrome 2	2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short midd...	OMIM:614326
Loeys-Dietz Syndrome 3	Aortic tortuosity, Ventricular hypertrophy, Hip osteoarthritis, Intervertebral disc degeneration,...	OMIM:613795
Congenitally Corrected Transposition Of The Great Arteries	Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve...	ORPHA:216694
Adams-Oliver Syndrome 1	Pulmonary arterial hypertension, Cleft upper lip, Ventricular septal defect, Toe syndactyly, Bicu...	OMIM:100300
Idiopathic Pulmonary Arterial Hypertension	Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge...	ORPHA:275766
Pitt-Hopkins-Like Syndrome 2	Pulmonic stenosis, Protruding tongue, Scoliosis, Wide mouth	OMIM:614325
Desbuquois Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Coxa valga, Ventri...	ORPHA:1425
Bronchopulmonary Dysplasia	Tracheobronchomalacia, Right ventricular failure, Right ventricular hypertrophy	ORPHA:70589
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hip subluxation, Hypothyroidism, Hypoplasia of proximal radius, Glossoptosis, Aortic root aneurys...	ORPHA:444077
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis	OMIM:264140
Combined Oxidative Phosphorylation Defect Type 23	Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric...	ORPHA:444013
Microcephaly-Cardiomyopathy Syndrome	Ventricular septal defect, Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Hi...	ORPHA:2515
Noonan Syndrome With Multiple Lentigines	Atrioventricular canal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dil...	ORPHA:500
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enamel hypoplasia, Wide mouth, Secundum atrial septal defect, Bifid uvula, Short neck, Skeletal m...	OMIM:615802
Noonan Syndrome 3	Patent ductus arteriosus, Patent foramen ovale, Sagittal craniosynostosis, High palate, Ventricul...	OMIM:609942
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Clinodactyly, Coarctatio...	OMIM:618164
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie...	ORPHA:93315
Aarskog-Scott Syndrome	Camptodactyly of finger, Cleft upper lip, Abnormality of the cervical spine, Long philtrum, Short...	ORPHA:915
Braddock-Carey Syndrome 1	Hyperlordosis, Enamel hypoplasia, Pierre-Robin sequence, Ventricular septal defect, Small hand, A...	OMIM:619980
Vertebral Hypersegmentation And Orofacial Anomalies	Supernumerary ribs, Submucous cleft hard palate, Supernumerary nipple, Joint hypermobility, Six l...	OMIM:619122
Intellectual Developmental Disorder, Autosomal Dominant 45	Pulmonic stenosis, Scoliosis, Heart murmur, Arachnodactyly	OMIM:617600
Familial Congenital Mirror Movements	Hypogonadotropic hypogonadism, Fused cervical vertebrae	ORPHA:238722
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom...	OMIM:616276
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Patent foramen ovale, 2-3 toe syndactyly, Lens coloboma, Sandal gap, Joint contracture of the 5th...	OMIM:618914
Ritscher-Schinzel Syndrome 2	Patent ductus arteriosus, Ventricular septal defect, Clinodactyly, Short philtrum, Camptodactyly,...	OMIM:300963
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Anal atresia, Atrial septal defect, Anter...	OMIM:309801
8Q22.1 Microdeletion Syndrome	Camptodactyly of finger, Long philtrum, Finger syndactyly, Hypogonadism, Submucous cleft hard pal...	ORPHA:178303
Mosaic Variegated Aneuploidy Syndrome 1	Short sternum, Long philtrum, Leukemia, Embryonal rhabdomyosarcoma, Atrial septal defect, Short n...	OMIM:257300
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Epistaxis, Leukocytosis, Extramedulla...	OMIM:612840
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect, Short philtrum, Downturned corners of mouth, Short neck, Proximal plac...	ORPHA:93267
Okamoto Syndrome	Polydactyly, Splenomegaly, Ventricular septal defect, Abnormal mitral valve morphology, Exaggerat...	ORPHA:2729
Larsen Syndrome	Spatulate thumbs, Hip dislocation, Tracheomalacia, Elbow dislocation, Spina bifida occulta, Bipar...	OMIM:150250
Aortic Valve Disease 1	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp...	OMIM:109730
Leopard Syndrome 1	Subvalvular aortic stenosis, Third degree atrioventricular block, Limited elbow movement, Aplasia...	OMIM:151100
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary...	OMIM:618780
Subaortic Stenosis-Short Stature Syndrome	Subvalvular aortic stenosis, Kyphosis, Microdontia, Synostosis of carpal bones, Type II diabetes ...	ORPHA:3191
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Portal fibrosis, Coarctation of aorta, Hepatic steatosis, Skeletal...	OMIM:614300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Patent ductus arteriosus, Short toe, Abnormality of the cervical spine, Ventricular septal defect...	ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome	Patent ductus arteriosus, Polydactyly, Anterior pituitary hypoplasia, Abnormality of the cervical...	ORPHA:464306
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	2-3 toe syndactyly, Finger joint hypermobility, Butterfly vertebrae, Limited elbow extension, Sca...	OMIM:618870
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Hypothyroidism, Premature thelarche, Tapered finger, Cleft soft palate, Hallux valgu...	ORPHA:268261
King-Denborough Syndrome	High palate, Ventricular septal defect, Deep philtrum, Muscle fiber atrophy, Thoracic kyphosis, C...	OMIM:619542
Orofaciodigital Syndrome Type 5	Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p...	ORPHA:2919
Chromosome 8Q22.1 Duplication Syndrome	Short phalanx of finger, Hallux valgus, Short metacarpal, Limitation of joint mobility, Joint sti...	OMIM:151200
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Hypothyroidism, Delayed closure of the anterior fontanelle, Short 5th fi...	OMIM:607872
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Patent foramen ovale, Long philtrum, Ventricular septal defect, Hip dysplasia, Atrial septal defe...	OMIM:618494
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Hypertrophic cardiomyopathy, Short neck, Radial deviation of fi...	OMIM:163950
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Short toe, Aplasia of the distal phalanges of the toes, Ventricular sep...	OMIM:615297
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Premature thelarche, Nodular goiter, Osteolysis, Iris coloboma, Abnormal form of the vertebral bo...	ORPHA:371428
Heterotaxy, Visceral, 12, Autosomal	Abdominal situs ambiguus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal...	OMIM:619702
Cerebrofacioarticular Syndrome	Irregular dentition, Caudal appendage, Camptodactyly, Anteriorly placed anus, Syndactyly, Narrow ...	ORPHA:314679
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polydactyly, Coloboma, Patellar dislocation, Broad hallux, Abnormal subclavian artery morphology,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polydactyly, Coloboma, Patellar dislocation, Broad hallux, Abnormal subclavian artery morphology,...	ORPHA:353277
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Gingival recession, Vascular dilatation, Short philtrum, Camptodactyly, Aortic dissection, Joint ...	OMIM:618343
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp...	ORPHA:555874
Singleton-Merten Syndrome 1	Subvalvular aortic stenosis, Osteolytic defects of the phalanges of the hand, Hip subluxation, Co...	OMIM:182250
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Patent ductus arteriosus, Neoplasm of the tongue, Atrioventricular canal defect, Camptodactyly of...	ORPHA:3047
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Death in infancy, Vertebral segmentation defect, Ky...	OMIM:277300
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, High palate, Ventricular septal defect, Cervical ribs, Short neck, Cleft palate,...	OMIM:609654
17Q24.2 Microdeletion Syndrome	Patent ductus arteriosus after birth at term, Upper limb undergrowth, Decreased response to growt...	ORPHA:529962
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	High palate, Tapered finger, Wide mouth, Bicuspid aortic valve, Macroglossia, Broad thumb, Short ...	OMIM:614501
Diabetic Embryopathy	Abnormal aortic morphology, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall...	ORPHA:1926
Otopalatodigital Syndrome Type 1	Abnormality of the tarsal bones, Increased bone mineral density, Oligodontia, Anodontia, Synostos...	ORPHA:90650
Atypical Werner Syndrome	Osteolytic defects of the phalanges of the hand, Abnormal testis morphology, Abnormal cerebral va...	ORPHA:79474
Trichohepatoenteric Syndrome 1	Splenomegaly, Hepatic fibrosis, Cirrhosis, Long philtrum, Wide mouth, Villous atrophy, Ventricula...	OMIM:222470
Heart Defects, Congenital, And Other Congenital Anomalies	Truncus arteriosus, Microcolon, Hypoplastic tricuspid valve, Cervical ribs, Pulmonary artery sten...	OMIM:600001
Pulmonary Hypertension, Primary, 5	Pulmonary arterial hypertension, Syncope, Angina pectoris, Right ventricular failure, Right ventr...	OMIM:265400
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Narrow palate, Finger syndactyly, Ectopic anus, Delayed eruption...	ORPHA:87
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Overlapping toe, Smooth philtrum, Cutaneous syndactyly, Patent foramen ovale, Double outlet right...	OMIM:618316
Primary Myelofibrosis	Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc...	ORPHA:824
Criss-Cross Heart	Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Supravalvular aorti...	ORPHA:1461
Cantu Syndrome	Thick upper lip vermilion, Broad first metatarsal, Coxa valga, Erlenmeyer flask deformity of the ...	OMIM:239850
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Non-midline cleft lip, Ventricular septal defect, Finger syndactyly, Delayed erupt...	ORPHA:1071
Alagille Syndrome 2	Hypertension, Atrial septal defect, Cholestasis, Peripheral pulmonary artery stenosis, Cholestati...	OMIM:610205
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Cleft upper lip, Ventricular septal defect, Coloboma, Bilateral cleft lip, Foot oligodactyly, Sho...	OMIM:601357
Hadziselimovic Syndrome	Ventricular hypertrophy, High palate, Ventricular septal defect, Pulmonary artery atresia, Thick ...	OMIM:612946
Genitopalatocardiac Syndrome	Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Cleft palate, Transpos...	OMIM:231060
Mend Syndrome	Sacral dimple, 2-3 toe syndactyly, Polydactyly, High palate, Kyphosis, Overlapping toe, Broad hal...	OMIM:300960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Congenital muscular dystrophy...	OMIM:606612
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Ventricular septal defect, Bifid uvula, Hypertrophic cardiomyopathy, Sh...	OMIM:612938
Hurler-Scheie Syndrome	Abnormal heart valve morphology, Spinal canal stenosis, Abnormal vertebral morphology, Limitation...	ORPHA:93476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Flexion contracture, Calf muscle hypertrophy, Spinal rigidity, Congenital muscular dystrophy, Dil...	OMIM:253800
Codas Syndrome	Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Extrahepatic biliary duct...	ORPHA:1458
Chromosome 15Q14 Deletion Syndrome	Ventricular septal defect, Short philtrum, Atrial septal defect, Everted lower lip vermilion, Cle...	OMIM:616898
Atrial Septal Defect 1	Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi...	OMIM:108800
Von Willebrand Disease, Type 1	Mitral valve prolapse, Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, A...	OMIM:193400
Congenital Rubella Syndrome	Patent ductus arteriosus, Anemia, Ventricular septal defect, Jaundice, Abnormality of the pulmona...	ORPHA:290
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Cervical ribs, Hypoplasia of right ventricle, Pulmonary artery steno...	ORPHA:2255
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Flexion contracture, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodacty...	ORPHA:261537
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic root aneurysm, Ventricular hypertrophy, Aortic atherosclerotic lesion, Pulmonary carcinoid...	ORPHA:363618
Wildervanck Syndrome	Fused cervical vertebrae, Short neck, Facial palsy	ORPHA:3456
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Ventricular septal defect, Cryptorchidism	ORPHA:1918
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Hyposegmentation of neutrophil nuclei, Congenital diaphragmatic hern...	ORPHA:250999
Pulmonary Hypertension, Primary, 1	Pulmonary arterial hypertension, Telangiectasia, Pulmonary arterial medial hypertrophy, Arterial ...	OMIM:178600
Cardiac Valvular Dysplasia 1	Arteria lusoria, Patent foramen ovale, Left aortic arch with cervical origin of the right subclav...	OMIM:212093
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Short distal phalanx of the thumb, Iris c...	OMIM:109400
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Ventricular septal defect, Sideroblastic anemia, Hypertension, Arrhythm...	OMIM:617021
Developmental And Speech Delay Due To Sox5 Deficiency	2-3 toe syndactyly, Vertebral fusion, Narrow palate, Exaggerated median tongue furrow, Butterfly ...	ORPHA:313892
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Hypogonadism, Esophageal atres...	OMIM:300514
Mungan Syndrome	Barrett esophagus, Perimembranous ventricular septal defect, Megaduodenum, Intestinal pseudo-obst...	OMIM:611376
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corners of mouth, Aplasia/Hyp...	ORPHA:94066
Phaver Syndrome	Camptodactyly of finger, Triphalangeal thumb, Ventricular septal defect, Pulmonary artery atresia...	ORPHA:2876
Joubert Syndrome 18	Intrahepatic biliary atresia, Lobulated tongue, Ventricular septal defect, Camptodactyly, Joint l...	OMIM:614815
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia...	OMIM:604169
Mowat-Wilson Syndrome	Asplenia, Flexion contracture, Tapered finger, Hallux valgus, Abnormal cardiac septum morphology,...	ORPHA:2152
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Wide mouth, Coloboma, ...	ORPHA:329224
Kapur-Toriello Syndrome	Patent ductus arteriosus, Camptodactyly of finger, Cleft upper lip, Ventricular septal defect, Jo...	OMIM:244300
Tricuspid Atresia	Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept...	ORPHA:1209
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Abnormal cardiac septum morphology, Increased bone mineral density, Flar...	ORPHA:90652
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth...	OMIM:613424
Li-Campeau Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Patellar hypoplasia, Long philtru...	OMIM:619189
Keratoconus Posticus Circumscriptus	Cleft upper lip, Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Shor...	OMIM:244600
Diamond-Blackfan Anemia 7	Patent ductus arteriosus, Triphalangeal thumb, Ventricular septal defect, Neutropenia, Secundum a...	OMIM:612562
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Missing ribs, Narrow pelvis bone, Abnormal vertebr...	ORPHA:66637
Grange Syndrome	Patent ductus arteriosus, Increased susceptibility to fractures, Ventricular septal defect, Hyper...	ORPHA:79094
Stapes Ankylosis With Broad Thumbs And Toes	Proximal/middle symphalangism of 5th finger, Toe syndactyly, Fused cervical vertebrae, Broad hall...	OMIM:184460
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Flexion contracture, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodacty...	ORPHA:261552
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Increased bone mineral density, Bifid uvula, Delayed skeletal mat...	ORPHA:2658
Fgfr2-Related Bent Bone Dysplasia	Metopic depression, Natal tooth, Coronal craniosynostosis, Hypoplastic ischia, Hepatosplenomegaly...	ORPHA:313855
Adams-Oliver Syndrome 6	Hepatic fibrosis, Foot oligodactyly, Ventricular septal defect, Truncus arteriosus, Syndactyly, B...	OMIM:616589
Osteopetrosis, Autosomal Recessive 5	Hip subluxation, Anemia, Long philtrum, Limb hypertonia, Increased bone mineral density, Pancytop...	OMIM:259720
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Toe syndactyly, Supernumerary nipple, Hepatoblastoma, Short neck, Hepato...	ORPHA:373
Oculoauriculofrontonasal Syndrome	Ventricular septal defect, Narrow mouth, Scoliosis, Cleft lip, Cleft palate, Broad philtrum	ORPHA:398156
Prune Belly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Volvulus, Vertebral segmentation defect, Dec...	ORPHA:2970
3-Methylglutaconic Aciduria, Type Iv	Subvalvular aortic stenosis, Biventricular hypertrophy, Cryptorchidism	OMIM:250951
Alkaptonuria	Mitral valve calcification, Vertebral fusion, Thickened Achilles tendon, Kyphosis, Arthropathy, L...	OMIM:203500
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Triphalangeal thumb, Preaxial hand polyd...	ORPHA:1120
Developmental And Epileptic Encephalopathy 66	Anemia, Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Vent...	OMIM:618067
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
16P13.11 Microduplication Syndrome	Ventricular septal defect, Craniosynostosis, Hand polydactyly, Atrial septal defect, Coarctation ...	ORPHA:261243
Trisomy 13	Patent ductus arteriosus, Long philtrum, Kyphosis, Ventricular septal defect, Atrial septal defec...	ORPHA:3378
Bardet-Biedl Syndrome 19	Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Atrial septal defect, Hypoplas...	OMIM:615996
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect, Wide mouth, Clinodactyly of the 5th finger, Delayed eruption of perman...	OMIM:618506
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Esophageal ulceration, Hypodontia, Bicuspid aortic valve, Diabetes mellitus,...	OMIM:176690
Restrictive Dermopathy 1	Patent ductus arteriosus, Overtubulated long bones, Flexion contracture, Wide anterior fontanel, ...	OMIM:275210
Timothy Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Microd...	OMIM:601005
Megabladder, Congenital	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,...	OMIM:618719
Peters-Plus Syndrome	Short lingual frenulum, Biliary tract abnormality, Iris coloboma, Short neck, Conical incisor, Cl...	OMIM:261540
Familial Idiopathic Dilatation Of The Right Atrium	Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal...	ORPHA:1677
Acrocardiofacial Syndrome	Camptodactyly of finger, Truncus arteriosus, Hallux valgus, Toe syndactyly, Cleft palate, Ventric...	ORPHA:2008
Loeys-Dietz Syndrome 5	Cleft soft palate, Bifid uvula, Ascending aortic dissection, Smooth philtrum, Cleft palate, Scapu...	OMIM:615582
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Fractured radius, Ventricular septal defect, Flexion contracture, Short ribs, Multi...	OMIM:616897
Degcags Syndrome	Polydactyly, Toe syndactyly, Hepatosplenomegaly, Tachycardia, Delayed skeletal maturation, Smooth...	OMIM:619488
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Pericardial effusion, Hypophosphatemic rickets, Hepatic calcification, M...	ORPHA:51608
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Cleft palate, Bifid uvula, Submucous cleft hard palate	ORPHA:2521
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent ductus arteriosus, Patent foramen ovale, Tracheobronchomalacia, Short 5th finger, Ventricu...	ORPHA:500159
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Flexion contracture, Ankle clonus, Talipes valgus, Type II diabetes mellitu...	OMIM:618891
Duodenal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Palpitations, Hematemesis, Increased circulating ACTH level, Insu...	ORPHA:100076
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Tapered finger, Coloboma, Toe syndactyly, Everted lower lip vermilion, I...	ORPHA:251014
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Pierre-Robin sequence, Syncope, Submucous cleft hard palate, Posteriorly placed tongue, Premature...	OMIM:192445
Neurooculocardiogenitourinary Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coloboma, Bilateral cr...	OMIM:618652
Ileal Neuroendocrine Tumor	Intestinal fistula, Hypotension, Extrahepatic cholestasis, Arterial occlusion, Cardiogenic shock,...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Intestinal fistula, Hypotension, Extrahepatic cholestasis, Arterial occlusion, Cardiogenic shock,...	ORPHA:100077
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Vertebral fusion, Anterior pituitary hypoplasia, Vertebral hypoplasia, ...	OMIM:206900
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Patent foramen ovale, Valvular pulmonary stenosis, Toe syndactyly, Bicuspid aortic valve, Cranios...	OMIM:300707
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Cleft palate, Ventricular septal defect, Truncus arteriosus, Short distal phalanx of finger	OMIM:601355
Koolen-De Vries Syndrome Due To A Point Mutation	Hypothyroidism, Precocious puberty, Pineal cyst, Primary adrenal insufficiency, Everted lower lip...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypothyroidism, Precocious puberty, Pineal cyst, Primary adrenal insufficiency, Everted lower lip...	ORPHA:363958
19P13.12 Microdeletion Syndrome	Hypothyroidism, Precocious puberty, Hepatic steatosis, Short neck, Cleft palate, Short palm, Arth...	ORPHA:254346
W Syndrome	Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,...	ORPHA:2804
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Heart murmur, Bicuspid aortic valve, Abnormal left ventricular outflow trac...	ORPHA:402075
Trigonocephaly With Short Stature And Developmental Delay	Sagittal craniosynostosis, High palate, Ventricular septal defect, Broad alveolar ridges, Clinoda...	OMIM:314320
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Ventricular septal defect, Joint laxity, Syndactyly, Smooth philtrum, Leukemia	OMIM:602501
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Patellar dislocation, Kyphosis, Hypodontia, Macrodontia, Clinodactyly of the 5t...	ORPHA:2916
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	2-3 toe syndactyly, Long philtrum, Kyphosis, Deep philtrum, Ventricular septal defect, Bifid uvul...	ORPHA:404440
Char Syndrome	Patent ductus arteriosus, Mesoaxial foot polydactyly, Ventricular septal defect, Short middle pha...	ORPHA:46627
Fetal Trimethadione Syndrome	High palate, Ventricular septal defect, Atrial septal defect, Scoliosis, Tetralogy of Fallot, Tra...	ORPHA:1913
Cardiomyopathy, Familial Hypertrophic, 1	Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia	OMIM:192600
Pentalogy Of Cantrell	Abnormal pericardium morphology, Non-midline cleft lip, Absent gallbladder, Ventricular septal de...	ORPHA:1335
Endosteal Hyperostosis, Worth Type	Torus palatinus, Generalized osteosclerosis, Clavicular sclerosis, Abnormal rib morphology, Diaph...	ORPHA:2790
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Metopic suture patent to nasal root, High palate, Broad secondary alveolar ridge, Ventricular sep...	ORPHA:3369
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho...	OMIM:619313
Kury-Isidor Syndrome	Sacral dimple, High palate, Long philtrum, Ventricular septal defect, Widely spaced teeth, Finger...	OMIM:619762
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Ventricular septal defect, Paroxysmal atrial tachycardia, Cardiac arrest, C...	ORPHA:49827
Leigh Syndrome With Cardiomyopathy	Anemia, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral reg...	ORPHA:70474
15Q14 Microdeletion Syndrome	Long philtrum, Kyphosis, Ventricular septal defect, Short philtrum, Atrial septal defect, Scolios...	ORPHA:261190
Holoprosencephaly 2	Diabetes insipidus, Bifid uvula, Submucous cleft hard palate, Median cleft lip and palate, Solita...	OMIM:157170
Cohen Syndrome	Tapered finger, Iris coloboma, Tooth agenesis, Gingival overgrowth, Genu valgum, Ventricular sept...	ORPHA:193
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	High palate, Ventricular septal defect, Joint laxity, Atrial septal defect, Aortic regurgitation,...	OMIM:607721
22Q11.2 Duplication Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Hypoplastic...	ORPHA:1727
Neu-Laxova Syndrome	Abnormality of the philtrum, Flexion contracture, Hypogonadism, Osteomalacia, Muscular dystrophy,...	ORPHA:2671
Brachycephaly, Trichomegaly, And Developmental Delay	High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t...	OMIM:617412
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Narrow mouth, Mitral regurgitation...	ORPHA:83473
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Coarctation...	ORPHA:2396
Wolf-Hirschhorn Syndrome	Precocious puberty, Hip dislocation, Biliary tract abnormality, Metatarsus adductus, Iris colobom...	OMIM:194190
Filippi Syndrome	Ventricular septal defect, Hypodontia, Microdontia, Abnormality of dental morphology, Short philt...	OMIM:272440
Orofaciodigital Syndrome V	Optic disc coloboma, Lobulated tongue, Bifid tongue, High palate, Ventricular septal defect, Hypo...	OMIM:174300
Jansen-De Vries Syndrome	Hyperlordosis, Central diaphragmatic hernia, Ventricular septal defect, Wide mouth, Small hand, B...	OMIM:617450
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Hypoplastic left heart, Aplasia/H...	ORPHA:2476
Periventricular Nodular Heterotopia 7	Knee flexion contracture, 2-3 toe syndactyly, 1-4 toe syndactyly, Pierre-Robin sequence, Ventricu...	OMIM:617201
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip subluxation, Flexion contracture, Coxa valga, Hallux valgus, Advanced ossification of carpal ...	OMIM:271640
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Subvalvular aortic stenosis, Increased variability in muscle fiber diameter, Knee flexion contrac...	OMIM:619461
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di...	OMIM:612158
Chromosome 15Q25 Deletion Syndrome	Cleft upper lip, Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery f...	OMIM:614294
Diamond-Blackfan Anemia 1	Delayed cranial suture closure, Absent thumb, Hypoplastic sacral vertebrae, Short neck, Cleft pal...	OMIM:105650
Robinow Syndrome, Autosomal Recessive 1	Delayed cranial suture closure, Bifid tongue, Dislocated radial head, Short neck, Absent uvula, R...	OMIM:268310
Holt-Oram Syndrome	Absent thumb, Abnormal carpal morphology, Secundum atrial septal defect, Phocomelia, Limited elbo...	OMIM:142900
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy, Cryptorchidi...	OMIM:616816
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve stenosis, Aortic valve calcification	OMIM:114065
Trichorhinophalangeal Syndrome, Type Ii	Hip subluxation, Coxa valga, Scapular winging, Avascular necrosis of the capital femoral epiphysi...	OMIM:150230
Cerebrocostomandibular Syndrome	Cleft soft palate, Elbow flexion contracture, Posterior rib gap, Cleft palate, Glossoptosis, Rib ...	OMIM:117650
Mosaic Trisomy 9	Camptodactyly of finger, Asplenia, Hip dislocation, Elbow dislocation, Short neck, Cleft palate, ...	ORPHA:99776
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Sacral dimple, Flexion contracture, High palate, Long philtrum, Ventricular septal defect, Tapere...	OMIM:617452
Scimitar Syndrome	Truncus arteriosus, Hypoplasia of the diaphragm, Heart block, Abnormal vena cava morphology, Abno...	ORPHA:185
Restrictive Dermopathy	Patent ductus arteriosus, Camptodactyly of finger, Ascending tubular aorta aneurysm, Multiple joi...	ORPHA:1662
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Ventricular septal defect, Short philtrum, Camptodactyly, Atrial septal def...	OMIM:301039
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Hypothyroidism, Anemia, Long philtrum, Perimembranous ventricular septa...	OMIM:608104
Chromosome 1Q41-Q42 Deletion Syndrome	Cleft upper lip, High palate, Ventricular septal defect, Deep philtrum, Widely spaced teeth, Vert...	OMIM:612530
Congenital Disorder Of Glycosylation, Type Iig	Butterfly vertebrae, Camptodactyly, Short neck, Posterior rib gap, Smooth philtrum, Cleft palate,...	OMIM:611209
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Elbow dislocation, Short nec...	ORPHA:1507

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