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Gene: Phc1 MGI:103248

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Decreased response to growth hormone stimulation test, Adr... OMIM:220210
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Short neck, Abnormal sacrum morpholog... ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, S... OMIM:214300
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Short neck, Abnormality of the humerus, Kyphosis, Preaxia... ORPHA:3098
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Dental crowding, Abnormality of the dentition, Delayed skeletal ... ORPHA:2868
3C Syndrome
Adrenal hypoplasia, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Abnormal tri... ORPHA:7
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb, Patent duct... ORPHA:2712
Charge Syndrome
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Hemivertebr... OMIM:214800
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Abnormal macrophage morphology, Lumbar hyperlordosis, Calf muscle pseudohypertr... ORPHA:353
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Overlapping fingers... OMIM:617022
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Dental crowding, Delayed skeletal matur... ORPHA:228410
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower... OMIM:249670
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... OMIM:188400
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Thrombocytopenia-Absent Radius Syndrome
Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused cervical vertebr... ORPHA:3320
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Flexion contracture, Cardiomyopath... OMIM:616549
Frontometaphyseal Dysplasia 1
Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Kne... OMIM:305620
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Spinal rigid... ORPHA:324604
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac sept... ORPHA:294975
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... ORPHA:860
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Cryptorchidism, Patent ductus arteriosus, 2-3 toe syn... ORPHA:3304
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Cryptorchidism... OMIM:179613
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Mucopolysaccharidosis, Type X
Aortic regurgitation, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Hyp... OMIM:619698
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cle... ORPHA:3426
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Tapered finger, Cryptorc... OMIM:617159
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Anomalous origin of lef... OMIM:618845
Craniofaciofrontodigital Syndrome
Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Finger jo... ORPHA:363705
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, High palate, Atrial... OMIM:609029
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmoni... ORPHA:251076
Mucolipidosis Iii Gamma
Aortic regurgitation, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Joint ... OMIM:252605
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Short neck, High palate, Atrial septal defect,... OMIM:201000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc... OMIM:618000
Emanuel Syndrome
Multiple joint contractures, Dental crowding, Congenital hip dislocation, Congenital diaphragmati... ORPHA:96170
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, Flaring of ri... OMIM:253010
Anauxetic Dysplasia 1
Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Lumbar hyperlordosis, Short... OMIM:607095
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Skeletal muscle atrophy, Osteopenia, Arachnodactyly, Kyphoscoliosis, Cryptorchidism, Fl... ORPHA:75496
Weill-Marchesani Syndrome
Ventricular septal defect, Short thumb, Limitation of joint mobility, Mitral regurgitation, Pulmo... ORPHA:3449
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Accelerated skeletal maturatio... ORPHA:1354
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, High palate, Clinodactyly of the 5th finger, Spina bifida occulta, S... OMIM:617877
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Bone pain, Pathologic fractur... OMIM:230800
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Proximal placement of thumb, High, narrow palate, Deep philtrum, Knee fl... ORPHA:435638
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Protruding tongue, Congest... ORPHA:324410
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Short neck, Cleft upper lip, Cryptorchidism, Pat... OMIM:243310
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Facial palsy, Hyperlordosis, High, nar... ORPHA:2780
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Trisomy 17P
Skeletal muscle atrophy, Prominent metopic ridge, Short neck, Tapered finger, Narrow mouth, Paten... ORPHA:261290
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Joint laxity, Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular sept... ORPHA:477817
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Carious teeth, Cryptorchidism, Deep philtrum, Thick lowe... ORPHA:2701
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Submucous cl... OMIM:108300
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Joint stiffness, Radial de... ORPHA:1388
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Short neck, D... OMIM:601808
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Metaphyseal widening, Flexion contrac... ORPHA:536471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Right... OMIM:253700
Temple-Baraitser Syndrome
Broad hallux, Proximal placement of thumb, Adducted thumb, Wide mouth, Downturned corners of mout... OMIM:611816
Scheie Syndrome
Aortic regurgitation, Short neck, Genu valgum, Aortic valve stenosis, Spondylolisthesis OMIM:607016
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... OMIM:274000
Monosomy 18Q
Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corners of mouth, High palate... ORPHA:1600
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Posterior rib fusion, Atrial septal defe... OMIM:265380
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Kyphosis, Cleft lip, Cryptorchidism, Cleft palate, Abdominal... OMIM:619123
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxity, Coloboma, Thorac... ORPHA:508498
Verheij Syndrome
Branchial cyst, Vertebral fusion, Thin upper lip vermilion, Joint laxity, Ventricular septal defe... OMIM:615583
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short neck, Abs... OMIM:609053
Nemaline Myopathy 9
Ventricular septal defect, Cleft palate, High palate, Scoliosis, Arthrogryposis multiplex congeni... OMIM:615731
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Cleft hard palate, Delayed epiphyseal ossification, Fragment... ORPHA:166016
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula OMIM:619239
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Patent... ORPHA:284169
Williams-Beuren Syndrome (WBS)
Microdontia, Aortic valve stenosis, Everted lower lip vermilion DECIPHER:3
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Thin upper lip vermilion, Prominent fingertip pads, Tricuspid regur... OMIM:612863
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Patent ductus arteriosus, Tooth... OMIM:277600
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis, Enamel hypoplasia, Joint stiffness ORPHA:2871
Kbg Syndrome
Vertebral fusion, Thin upper lip vermilion, Persistent open anterior fontanelle, Macrodontia, Sho... ORPHA:2332
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Rhizomelic Syndrome
Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip dislocation, Pulmonic stenosis, Co... OMIM:268250
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Eosinophilia, Abnormality of the dentition, Sterile abscess, Spinal canal stenosis... OMIM:618282
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Short neck, Reduced bone mineral density, Wide mouth, Pulmonic stenosi... OMIM:615279
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defect, Patent duc... OMIM:601927
Branchial Arch Syndrome, X-Linked
High, narrow palate, High palate, Pulmonic stenosis, Cryptorchidism OMIM:301950
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Cardiomegaly, Left ven... OMIM:618052
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enla... OMIM:616028
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, Coxa valga, Splenomegal... OMIM:608149
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital muscular torticollis, Congenital hip dislocation, Bicuspid a... ORPHA:457279
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Kyphosis, Cleft lip, Dysplas... ORPHA:1724
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep... OMIM:617137
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Joint stiffness, Pulmonic stenosis, Brachydactyly OMIM:614819
Legius Syndrome
High, narrow palate, Supravalvar pulmonary stenosis, High palate, Short neck OMIM:611431
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Congenital hip dislocation, Short neck, Knee flexion contracture, Cutaneou... OMIM:114300
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Bone pain, Downturned corners of mouth, Periodontitis, Decreased skull os... ORPHA:955
Cenani-Lenz Syndactyly Syndrome
Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia o... OMIM:212780
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Submucous cleft hard palate, Flexion contracture, Irregular vertebral ... OMIM:222765
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Submucous cleft hard palate, Aortic valve stenosis, Hypoplastic left heart... OMIM:617660
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Wide cranial sutures, Bicuspid aortic valve, Patent ductus arteriosus, ... OMIM:619149
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Arthritis, Abnormal cardiac septum morphology... ORPHA:1937
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Joint laxity, Carotid artery dissection, Arachnoda... OMIM:208050
Weill-Marchesani Syndrome 2
Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hyperlordo... OMIM:608328
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Cleft palate, Parathyroid hypoplasia, Abnormal heart morph... ORPHA:2237
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Hyperextensibil... OMIM:601492
Koolen-De Vries Syndrome
Bicuspid aortic valve, High palate, Widely spaced teeth, Prominent fingertip pads, Atrial septal ... OMIM:610443
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused c... ORPHA:2522
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, S... OMIM:609008
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Velopharyngeal insuf... OMIM:614701
Catel-Manzke Syndrome
Joint dislocation, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid u... OMIM:616145
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Overlapping fingers, Ventricular septal defect, Rocker bottom foot, Craniosynostosi... OMIM:301056
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Ventricular septal defect, Cleft palate, Atrial septal defect, Clinodactyly, Paten... OMIM:614261
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia... ORPHA:1436
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Geleophysic Dysplasia 2
Short palm, Hepatomegaly, Thin upper lip vermilion, Ovoid vertebral bodies, Tricuspid stenosis, J... OMIM:614185
Frontoocular Syndrome
Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, Atrial septal defect, Coronal cran... OMIM:605321
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Thick vermilion border, Pulmonic stenosis OMIM:618499
Myhre Syndrome
Short neck, Short philtrum, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral f... OMIM:139210
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic ... OMIM:619657
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Death in infancy, Ventricular septal defect, Hepatic melanin-like lysosomal... OMIM:208085
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced tee... OMIM:619717
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Snijders Blok-Campeau Syndrome
Joint laxity, Perimembranous ventricular septal defect, High palate, Widely spaced teeth, Pulmoni... OMIM:618205
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Joint stiffness, Cryptorchidism, Clef... ORPHA:1166
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Oligodontia, Spina bifida occulta... ORPHA:1826
Tyshchenko Syndrome
Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Narrow pala... OMIM:615102
Congenital Fibrinogen Deficiency
Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Splenic rupture, Clubbing of fi... ORPHA:335
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Atelis Syndrome 2
Sacral dimple, Remnants of the hyaloid vascular system, Diastema, Kyphosis, Patent ductus arterio... OMIM:620185
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Chops Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, High, narrow palate, Cryptorch... OMIM:616368
Noonan Syndrome 8
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Mitral regurgita... OMIM:615355
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Long hallux, Iris coloboma, Abnormality of the... ORPHA:2308
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Upper limb... OMIM:607323
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped dis... ORPHA:370010
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Postaxial hand polydactyly, Vascular dilatation OMIM:220220
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale, Clubbing OMIM:247610
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu... OMIM:612541
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Joint hypermob... OMIM:300990
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... OMIM:619227
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Death in infancy, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyo... OMIM:619433
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Accelerated skeleta... OMIM:617190
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Short neck, Kyphosis, High, narrow palate, Cryptorchidism... OMIM:619745
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Cubitus ... OMIM:605275
Myhre Syndrome
Short palm, Large iliac wing, Bifid uvula, Precocious puberty, Cryptorchidism, Abnormal rib morph... ORPHA:2588
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Short neck, Abnormality of the dent... ORPHA:3071
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Giant cell hepatitis, Death in infancy, Ventricular septal defect, Nephrogenic diab... OMIM:613404
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Unilateral cryptorchidism, Abnormal pulmonary valve morphology, Acceler... ORPHA:137634
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Short philtrum, Widely spaced te... OMIM:300967
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... OMIM:300166
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Noonan Syndrome 10
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Mitral valve pro... OMIM:616564
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Proximal placement of thumb, Short neck, Limited elbow movement, Downturne... OMIM:610759
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Noonan Syndrome 4
Ventricular septal defect, Short neck, Cryptorchidism, Delayed skeletal maturation, Dental malocc... OMIM:610733
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturned corners of mouth, Ar... ORPHA:1110
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Death in infancy, Ventricular septal defect, Jaundice, Glossoptosis, Epiphyseal sti... OMIM:614876
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... OMIM:613702
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Sacral dimple, Ventricular septal defect, Delayed skeletal maturation, Thick lower lip vermilion,... OMIM:608227
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Hypertrophic cardiomyopathy, Abnormality of the lymphatic system, Pulmonic stenosis ORPHA:638
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... OMIM:618624
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Cyclopia, Patent ductus arteriosus, Vertebral clefti... OMIM:301043
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Median cleft lip, Hypoplas... ORPHA:3186
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Left superior vena cava drai... OMIM:613759
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Takenouchi-Kosaki Syndrome
Smooth philtrum, Thin upper lip vermilion, Overlapping toe, Increased mean platelet volume, Proxi... OMIM:616737
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... OMIM:267010
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft upper ... OMIM:312150
Teebi-Shaltout Syndrome
Syndactyly, Ventricular septal defect, Rocker bottom foot, Metatarsus adductus, High, narrow pala... OMIM:272950
Noonan Syndrome 9
Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Hepatomegaly, Ventricular septal defect, Joint stiffness, Splenomegaly, Cleft ... OMIM:620210
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Jejunal atresia, Tapered finger, High, narrow palate, Narrow palate, Type 1 muscle fiber predomin... OMIM:612949
Robinow Syndrome
Dental crowding, Hemivertebrae, Orofacial cleft, Atrial septal defect, Fused thoracic vertebrae, ... ORPHA:97360
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Broad hallux, Cryptorchidism, Velopharyngeal insufficiency, Sub... OMIM:619314
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tracheoeso... ORPHA:1780
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Tarp Syndrome
Finger syndactyly, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial polydactyly, Crypt... ORPHA:2886
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Cleft uppe... OMIM:612561
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ... ORPHA:2414
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sagittal craniosynostosis, Small hand, Cleft palate, Widely spaced teeth, Camptodactyly, Atrial s... ORPHA:459061
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... OMIM:601186
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Limited elbow movement, ... ORPHA:268
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, Submucous cleft hard palate... OMIM:619103
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... OMIM:208540
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Maternal diabetes, Hemivertebrae, Dysplastic sac... OMIM:134780
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Accelerated skeletal maturation, Vertebral segmentation defect, ... OMIM:312870
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Protruding tongue, Cryptorchidism, Conotruncal defect, Coarctation of aorta... ORPHA:96147
Noonan Syndrome 5
Short neck, Cryptorchidism, Wide mouth, Thick vermilion border, Arrhythmia, Pulmonic stenosis, At... OMIM:611553
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm... OMIM:192430
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Asymmetry of the mouth, Kyphosis, Cryptorchidism, L... ORPHA:401973
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Ventricular septal defect, Exaggerated cupid's bow, Patent duct... ORPHA:261120
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Patent foramen ovale, Joi... OMIM:157800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... ORPHA:99147
Singleton-Merten Syndrome 2
Osteopenia, Aortic valve calcification, Osteolytic defects of the phalanges of the hand, Joint su... OMIM:616298
Cardiofaciocutaneous Syndrome 4
Joint laxity, Decreased response to growth hormone stimulation test, Ventricular septal hypertrop... OMIM:615280
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypoplas... OMIM:108720
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Toriello-Carey Syndrome
Aganglionic megacolon, Short neck, Cryptorchidism, Patent ductus arteriosus, Wide anterior fontan... ORPHA:3338
Noonan Syndrome 7
Joint hypermobility, Short neck, Thick vermilion border, Pulmonic stenosis, Scoliosis, Atrial sep... OMIM:613706
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... ORPHA:3097
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Short neck, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Patent foramen... OMIM:617506
Roifman Syndrome
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hepatomegaly, Ventricular septal defect,... OMIM:616651
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Short neck, Cryptorchidism, Pulmonic stenosis, Hypertrophic car... OMIM:613224
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block, Trip... ORPHA:392
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Anteriorly placed anus, High palate, Short philt... OMIM:619148
Intellectual Developmental Disorder, Autosomal Dominant 43
Thin upper lip vermilion, Tapered finger, Gingival overgrowth, Hip dysplasia, High palate, Short ... OMIM:616977
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Williams Syndrome
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascula... ORPHA:904
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Coloboma, Atr... ORPHA:353281
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane... OMIM:178110
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic aneurysm, Bifid uvula, Joint l... ORPHA:284984
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Short neck, Open bite, Splenomegaly, Abnorma... OMIM:115150
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Osteolysis, Fused c... OMIM:612852
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Downturned corn... OMIM:617796
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiph... OMIM:114290
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Dental... OMIM:130720
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Sh... ORPHA:466791
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Pulmonic stenosis, Scoliosis... OMIM:620141
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Short philtru... ORPHA:96121
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Facial palsy, Limited wrist e... ORPHA:98915
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, High palate, Atrial septal defect, Patent foramen ovale, ... ORPHA:280633
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, Thrombocytopenia, Lumbar kyphosis, Leukopenia, High pal... OMIM:620184
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Joint hypermobility, Downturned corners of mouth, Wide mouth, Short philtrum, Narrow mouth, Cervi... OMIM:617333
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Marden-Walker Syndrome
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Bifid uvula, Arachnodactyly, Abno... ORPHA:2461
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Abnormal heart morphology, Scoliosis, Thoracic ... ORPHA:1445
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Joint stiffness, High, narrow palate, Cleft palate, Abnorm... ORPHA:2516
Kabuki Syndrome 2
Joint laxity, Natal tooth, Prominent fingertip pads, Lower lip pit, Dental malocclusion, Hip disl... OMIM:300867
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Short neck, Atrial septal defect, Microd... OMIM:613458
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Ce... OMIM:118100
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... ORPHA:139466
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Anal stenosis, Vertebral artery hypoplasia, Abnormal odontoid process morpholog... OMIM:613686
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Posterolateral diaphragmatic hernia, Osteopenia, Joint laxity, Sandal gap, Deat... OMIM:613177
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Short neck, Splenomegaly, ... OMIM:613563
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Generali... OMIM:619472
Contractural Arachnodactyly, Congenital
Osteopenia, Bicuspid aortic valve, Short neck, Knee flexion contracture, High palate, Atrial sept... OMIM:121050
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils, Abnormality of ... OMIM:169400
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Abnormality of the dentition, Osteoporosis, Cleft palate, Mitral v... ORPHA:90354
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Transaldolase Deficiency
Short neck, Deep philtrum, Hepatic fibrosis, Short philtrum, Atrial septal defect, Patent foramen... OMIM:606003
Koolen-De Vries Syndrome
Vertebral fusion, Bicuspid aortic valve, Abnormal dental enamel morphology, Arachnodactyly, Abnor... ORPHA:96169
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Hip dysplasia, Thick vermilion border, Thoracic kyphosis, Scoliosis ORPHA:530983
Zttk Syndrome
Flexion contracture, Hemivertebrae, Downturned corners of mouth, High palate, Short philtrum, Atr... OMIM:617140
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Thin upper lip vermilion, Brachydactyly, Limited elbow extension and supination, Ve... ORPHA:401935
Desmosterolosis
Increased bone mineral density, Intestinal malrotation, Metatarsus adductus, Splenomegaly, Patent... ORPHA:35107
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Tented upper lip vermilion, Decreased response to growth hormone stimula... ORPHA:488632
Geleophysic Dysplasia 1
Short palm, Hepatomegaly, Osteopenia, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Jo... OMIM:231050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Biliary hyperplasia, Pyl... ORPHA:83617
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal... ORPHA:3201
Mmep Syndrome
Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft, Split foot, Triphal... ORPHA:3434
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Feingold Syndrome Type 2
Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short thumb, Short middle phalanx of ... ORPHA:391646
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Abnormality of thumb phalanx, Rectal... ORPHA:235
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Myocardial infarction, Osteoarthritis, Reduced bone mine... ORPHA:740
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Precocious puberty, Cleft palate, Scoliosis, Dysplastic pulmonary valve, Bifid u... OMIM:300958
Hypophosphatemic Rickets, Autosomal Recessive, 2
Coxa valga, Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of teeth, Pulmoni... OMIM:613312
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Persistence of pr... OMIM:259710
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... OMIM:607155
Craniosynostosis 1
Sagittal craniosynostosis, Craniosynostosis, Right unicoronal synostosis, Aortic valve stenosis, ... OMIM:123100
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Downturned corners of mouth, Atrial septal defect, Patent for... OMIM:620186
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Branchial anomaly, High palate, Pulmonic stenosis, Abnormal mitral valve morpholo... ORPHA:1131
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
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Short neck, Secundum atrial septal defect, Abnormality of the dentition,... OMIM:615802
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double outlet right ventricle, Supravalva... OMIM:618164
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala... OMIM:613795
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... OMIM:614326
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Right ventricular failure, Right ventricular hypertrophy ORPHA:70589
Adams-Oliver Syndrome 1
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upp... OMIM:100300
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Abnormal morphology of ulna, Short neck, Cryptorchidism, Submuco... ORPHA:1340
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal jugular vein morphology, Ankle swelling, Increased pulmonary va... ORPHA:275766
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Pulmonic stenosis, Scoliosis, Protruding tongue OMIM:614325
Desbuquois Syndrome
Ventricular septal defect, Camptodactyly of finger, Genu recurvatum, Short neck, Coxa valga, Acce... ORPHA:1425
Microcephaly-Cardiomyopathy Syndrome
Sandal gap, Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... ORPHA:2515
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Intellectual Developmental Disorder, Autosomal Dominant 45
Arachnodactyly, Heart murmur, Pulmonic stenosis, Scoliosis OMIM:617600
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Scolios... OMIM:616276
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4t... OMIM:618914
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Supernumerary nipple, Submucous cleft hard palate, Unilateral cleft lip, Supern... OMIM:619122
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High ... ORPHA:93315
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Clinodactyly, Pierre-Robin seque... OMIM:619980
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Aarskog-Scott Syndrome
Delayed eruption of teeth, Short palm, Finger syndactyly, Genu recurvatum, Camptodactyly of finge... ORPHA:915
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Tapered finger, Kypho... ORPHA:464311
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... ORPHA:178303
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d... ORPHA:2729
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Coloboma, Hig... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Coloboma, Hig... ORPHA:353277
Mosaic Variegated Aneuploidy Syndrome 1
Short neck, Cryptorchidism, Triangular mouth, Cleft palate, Embryonal rhabdomyosarcoma, Short ste... OMIM:257300
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hallux valgus, Multiple joint contractures, Ventricular septal defect, Ante... ORPHA:464306
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta... OMIM:150250
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Sagittal craniosynostosis, Cryptorch... OMIM:609942
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
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Ventricular septal defect, Proximal placement of thumb, Short neck, Abn... ORPHA:93267
Leopard Syndrome 1
Bundle branch block, Scapular winging, Kyphoscoliosis, Short neck, Missing ribs, Complete atriove... OMIM:151100
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Accelerated skeletal maturation, Finger joint hypermobility, Atrial septal def... OMIM:618870
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Type II ... ORPHA:3191
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Thin upper lip vermilion, Otosclerosis, Decreased response to growth hormo... ORPHA:529962
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Camptoda... OMIM:300963
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Cholestasis, Coarctation of aorta, Portal... OMIM:614300
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Prominent fingertip pads, Ventricular septal defect, Overlapping toe, H... OMIM:618494
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Pa... OMIM:600001
Cerebrofacioarticular Syndrome
Osteopenia, Irregular dentition, Anal stenosis, Syndactyly, Absence of pubertal development, Abno... ORPHA:314679
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Clinodactyly of the 5t... OMIM:607872
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Dental crowding, Joint hypermobility, Vascular dilatation, Long fingers, Varic... OMIM:618343
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Centrally nucleated ... OMIM:619542
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Short neck, High, narrow palate, High palate, Atrial septal def... OMIM:163950
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... OMIM:615297
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Bicuspid aortic valve, Premature thelarche, Osteolysis involving bones o... ORPHA:371428
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Eruption failure, Joint subluxatio... OMIM:182250
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Bicuspid aortic valve, Exaggerated cupid's bow, Tapered finger, Wide mouth, Macroglossia, High pa... OMIM:614501
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidis... OMIM:615524
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean pl... OMIM:222470
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Ventricular septal defect, Camptodactyly of finger, Thyro... ORPHA:3047
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Abnormal odontoid process morphology, Cleft upper lip, Short neck, Cle... OMIM:609654
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Proximal placement of thumb... ORPHA:90650
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Apert Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Es... ORPHA:87
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, A... ORPHA:2255
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... ORPHA:313892
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Fasting h... ORPHA:79474
Joubert Syndrome 18
Joint laxity, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Kyphoscoliosis... OMIM:614815
Cantu Syndrome
Bicuspid aortic valve, Short neck, Cardiomegaly, Metaphyseal widening, Thick upper lip vermilion,... OMIM:239850
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... OMIM:265400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Alagille Syndrome 2
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te... OMIM:610205
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Abnormal sacrum morphology, Aplasia/Hypop... ORPHA:1926
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Parachute mitral valve, Short philtrum, Atrial septal defect, Pulmonary artery a... OMIM:618316
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Spinal rigidity, Dilated cardiomyopathy, Flexion contracture, Myocardial... OMIM:253800
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Dental crowding, Asplenia, Cleft hard palate, Flexion contracture, Calcane... ORPHA:261537
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Delayed skeletal maturation, Thick lower lip ... OMIM:612946
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Limitati... ORPHA:93476
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Cryptorchidism, Long fingers, 2-3 toe syn... OMIM:300960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... OMIM:231060
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Basal Cell Nevus Syndrome 1
Hemivertebrae, Cardiac fibroma, Iris coloboma, Vertebral fusion, Odontogenic keratocysts of the j... OMIM:109400
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Gastrointestinal angiodysplasia, A... OMIM:193400
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... ORPHA:1458
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia... ORPHA:290
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Pulmonary carcinoi... ORPHA:363618
Mowat-Wilson Syndrome
Bicuspid aortic valve, Dental crowding, Asplenia, Cleft hard palate, Flexion contracture, Calcane... ORPHA:2152
Wildervanck Syndrome
Fused cervical vertebrae, Facial palsy, Short neck ORPHA:3456
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
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation... ORPHA:250999
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Short neck, Protruding tongue, Cryptorchidism, Patent ductus arteriosu... OMIM:612938
Fanconi Anemia, Complementation Group B
Death in infancy, Aplastic anemia, Ventricular septal defect, Hypergonadotropic hypogonadism, Sho... OMIM:300514
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ... ORPHA:2876
Mungan Syndrome
Tricuspid regurgitation, Intestinal pseudo-obstruction, Barrett esophagus, Perimembranous ventric... OMIM:611376
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Diastema, Cryptorchid... ORPHA:329224
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segmentation and ... ORPHA:90652
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, Ventricular septal defect ORPHA:1918
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
16P13.11 Microduplication Syndrome
Arachnodactyly, Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Joint hyperfle... ORPHA:261243
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Dental crowding, Asplenia, Cleft hard palate, Flexion contracture, Calcane... ORPHA:261552
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Clinodactyly o... OMIM:244600
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Secundum atr... OMIM:612562
Li-Campeau Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypothyroidism, Patellar hyp... OMIM:619189
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of ... OMIM:620393
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Adrenal hypoplasia, Wide... OMIM:275210
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Short neck, Cleft upp... OMIM:244300
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Facial ... OMIM:259720
Diaphanospondylodysostosis
Missing ribs, Short neck, Cleft palate, Narrow pelvis bone, Absent or minimally ossified vertebra... ORPHA:66637
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia... ORPHA:1120
Adams-Oliver Syndrome 6
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly... OMIM:616589
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Acc... ORPHA:373
Alkaptonuria
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Coronary artery calcifi... OMIM:203500
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalanges of the han... ORPHA:2658
Grange Syndrome
Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial s... ORPHA:79094
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Cleft lip, Cleft palate, Scoliosis, Narrow mouth, Broad philtrum ORPHA:398156
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Gi... ORPHA:313855
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Ventricular septal defect, Rocker bottom foot, Wide mouth, Delayed erupt... OMIM:618506
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Thoracic scoliosis, Diabetes mellitus, Bicuspid aortic valve, Abnormal joint... OMIM:176690
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Flexion contracture, Generalized limb muscle atrophy, Ankle clonus, ... OMIM:618891
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Cryptorchidism, Subvalvular aortic stenosis OMIM:250951
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Car... OMIM:616897
Peters-Plus Syndrome
Short lingual frenulum, Bilobate gallbladder, Proximal placement of thumb, Short neck, Limited el... OMIM:261540
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Adrenal calcification, Cardiomegaly, Abnormal retinal art... ORPHA:51608
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
2Q31.1 Microdeletion Syndrome
Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Coloboma, Vert... ORPHA:251014
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, High palate, Bilateral coxa va... OMIM:615582
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... OMIM:615996
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S... OMIM:192445
Prune Belly Syndrome
Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Pa... ORPHA:2970
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor... OMIM:618067
Trisomy 13
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, Kyphosis, Patent ductu... ORPHA:3378
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl... ORPHA:404440
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo... ORPHA:363958
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism... ORPHA:500159
Degcags Syndrome
Osteopenia, Leukopenia, Iron deficiency anemia, High palate, Atrial septal defect, Diaphragmatic ... OMIM:619488
Acrocardiofacial Syndrome
Joint dislocation, Atrial septal defect, Finger syndactyly, Death in infancy, Hyperthyroidism, Cl... ORPHA:2008
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Joint laxity, Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Toe syndactyly, Bic... OMIM:300707
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... OMIM:618652
Microphthalmia, Syndromic 3
Vertebral fusion, Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypo... OMIM:206900
W Syndrome
Hypoplasia of the ulna, Radial bowing, Metatarsus adductus, Elbow dislocation, Clinodactyly, Subm... ORPHA:2804
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Char Syndrome
Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Supernumerary nipple, Pers... ORPHA:46627
19P13.12 Microdeletion Syndrome
Short neck, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Hepatic steatosis, ... ORPHA:254346
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Syndactyly, Ventricular septal defect, Polydactyly, Leukemia, Smooth philtrum OMIM:602501
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Macrodontia, Abnormal dental enamel morphology... ORPHA:2916
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Abnormal rib morphology, Abno... ORPHA:2790
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Kury-Isidor Syndrome
Finger syndactyly, Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Rocker b... OMIM:619762
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Sagittal craniosynostosis, High palate, Broad alveolar ridges, Lambdoi... OMIM:314320
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Scoliosis, Atrial se... ORPHA:1913
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... ORPHA:1335
15Q14 Microdeletion Syndrome
Ventricular septal defect, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, ... ORPHA:261190
Jansen-De Vries Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Centra... OMIM:617450
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Metopic suture patent to nas... ORPHA:3369
Holoprosencephaly 2
Median cleft lip and palate, Cyclopia, Remnants of the hyaloid vascular system, Adrenal hypoplasi... OMIM:157170
Ileal Neuroendocrine Tumor
Intestinal fistula, Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepat... ORPHA:100078
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Natal tooth, Multiple joint contractures, Dextrocardia, Camp... ORPHA:1662
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... OMIM:617201
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
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
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive he... ORPHA:49827
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnor... ORPHA:2671
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Broad hallux, Sa... OMIM:600987
Cohen Syndrome
High, narrow palate, Short philtrum, Neutropenia, Clinodactyly of the 5th finger, Iris coloboma, ... ORPHA:193
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Mitral regurgitation, Abnormal cardiac sep... ORPHA:83473
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Joint laxity, Ventricular septal defect, Short neck, Cryptorchidism, High p... OMIM:607721
Encephalocraniocutaneous Lipomatosis
Osteolysis, Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid ... ORPHA:2396
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Increased variability in ... OMIM:619461
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... OMIM:213980
Scimitar Syndrome
Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing... ORPHA:185
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners... OMIM:194190
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Clinodactyly of th... OMIM:117650
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, High pal... ORPHA:124
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Facial hypotonia, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hi... OMIM:618106
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Overlapping toe, Down-sloping... OMIM:617452
Chromosome 5Q12 Deletion Syndrome
Long toe, Sacral dimple, Ventricular septal defect, Short neck, Long fingers, Patent ductus arter... OMIM:615668
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... OMIM:174300
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High pal... OMIM:611209
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short neck, Hemivertebrae, Short palm, Thoracic hemi... OMIM:268310
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... OMIM:142900
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Chronic gastritis, Bicuspid aortic valve, Myocardial infarction, Cerebral arterioveno... OMIM:150230
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Cleft palate, Short distal phalanx of finger OMIM:601355
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint laxity, Ventricular septal defect, Arachnodactyly, Cryptorchidism, Mitral regurgitation, Ao... OMIM:301039
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... OMIM:217085
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Hyperlordosis, ... ORPHA:169186
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenita... OMIM:614294
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners of mouth, Vertebral s... ORPHA:1507
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Atrial septal defect, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Ca... ORPHA:79345
Peters Plus Syndrome
Short neck, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely spaced teeth, Cl... ORPHA:709
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Cryptorchidism, Myopathy, Increased variability in muscle fiber diamet... OMIM:616816
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Small thenar eminen... OMIM:239800
Mosaic Trisomy 9
Short neck, Asplenia, Hemivertebrae, Finger clinodactyly, High palate, Endocardial fibroelastosis... ORPHA:99776
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Scoliosis ORPHA:357225
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Sandal gap, Cong... OMIM:612530
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Abnormal tibia morphology, Abnormal hea... ORPHA:363700
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
17Q11 Microdeletion Syndrome
Osteopenia, Bowing of the legs, Abnormal internal carotid artery morphology, Elevated circulating... ORPHA:97685
Monosomy 13Q34
Epistaxis, Postaxial hand polydactyly, Hematochezia, Postaxial foot polydactyly, Pulmonic stenosi... ORPHA:96168
3Q29 Microdeletion Syndrome
Dental crowding, Abnormality of the dentition, Tapered finger, Patent ductus arteriosus, Orofacia... ORPHA:65286
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Cherry red spot of the macula, Hyperlordosis, Patent ductu... ORPHA:354
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Downturned corners of mouth... OMIM:618974
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint dislocation, Dental crowding, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal ... ORPHA:230851
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cholestasis, O... OMIM:615630
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Kyphoscoliosis, Precocious puberty, Long fi... ORPHA:447980
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Supernumerary nipple... OMIM:235730
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Sacral dimple, Aplastic anemia, Carious teeth, Cryptorchid... OMIM:223370
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cleft upper lip, C... OMIM:264480
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Coloboma, Vertebral segmentation ... ORPHA:453499
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Sacral dimple, Hyperextensibility of the finger joints, Ventricular sep... ORPHA:505237
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchidism, H... ORPHA:377
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Proximal pla... ORPHA:1488
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Clino... OMIM:617602
Hydrolethalus
Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, Gingival c... ORPHA:2189
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Bicuspid aortic valve, Deep philtrum, Atrial septal defect, Hypothyroidism, Patent fo... ORPHA:438213
Galloway-Mowat Syndrome 7
Hallux valgus, Ventricular septal defect, Arachnodactyly, Kyphoscoliosis, Cleft lip, Partial dupl... OMIM:618348
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Thiam... OMIM:249270
Walker-Warburg Syndrome
Skeletal muscle atrophy, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Muscular dyst... ORPHA:899
Diamond-Blackfan Anemia 1
Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal thumb,... OMIM:105650
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition... ORPHA:96167
Skraban-Deardorff Syndrome
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... OMIM:617616
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Rickets, Cholestasis,... ORPHA:79303
Filippi Syndrome
Ventricular septal defect, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger clino... OMIM:272440
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Optic disc coloboma, Cleft palat... ORPHA:52055
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Diaphragmatic ... OMIM:608978
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Narrow mouth, Atrial septal defect,... ORPHA:3469
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Short neck, Cryptorchidism, Clinodactyly, Abnormal heart m... ORPHA:369891
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the knee,... ORPHA:93316
Dysosteosclerosis
Delayed eruption of teeth, Increased bone mineral density, Ventricular septal defect, Abnormal de... ORPHA:1782
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Hip contracture, Supernumerary nipple, Short neck, Broad distal phalanx... OMIM:619194
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Tracheoesophag... ORPHA:93941
16Q24.3 Microdeletion Syndrome
Smooth philtrum, Ventricular septal defect, Proximal placement of thumb, Kyphosis, Cryptorchidism... ORPHA:261250
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, High palate, S... ORPHA:3306
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Ventricular septal defect, Dextrotransposition of the great arteries, Ankle clonus... OMIM:619995
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Atria... OMIM:618330
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Wide mouth, Branchial anomaly, Intrahepatic bil... ORPHA:1296
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Scapular winging, Brachydactyly, Ventricular septal defect, Dental crow... OMIM:617061
Intellectual Developmental Disorder, Autosomal Dominant 47
Joint laxity, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Wide mouth, Scolio... OMIM:617635
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Short neck, Generalized joint laxity, Tibial bowing, Coloboma, High ... ORPHA:251028
Alagille Syndrome
Hepatomegaly, Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Ventricular septal de... ORPHA:52
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Short neck, Abnormal finger morphology, Abno... ORPHA:2636
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Cleft soft palate, Broad hallux, Abnormality of the dentition, Sandal gap,... OMIM:618529
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Crypto... ORPHA:77298
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Ventricular septal defect, Facial hypotonia, Short neck,... ORPHA:85194
Acro-Renal-Ocular Syndrome
Coloboma, Vertebral segmentation defect, Triphalangeal thumb, Chorioretinal coloboma, Iris colobo... ORPHA:959
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Short neck, Anteriorly placed anus, Downturned corners of mouth, Pulmona... OMIM:616894
C Syndrome
Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Fused sternal ossifica... OMIM:211750
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Recurrent fractures, Cryptorchidism, Abnormal rib morphology, Joint hy... ORPHA:2772
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis ORPHA:306550
Down Syndrome
Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular canal defect, Patent f... OMIM:190685
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Ventricular septal defect, Broad hallux, Short neck, Clinodactyly of the 2nd to... OMIM:620073
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Paten... OMIM:618142
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thin upper lip vermilion, Death in infancy, Ventricular septal defect, Thyroid lymp... OMIM:235255
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, 2-3 finger syndactyly, Subvalvular... ORPHA:1338
Woods Syndrome
Ventricular septal defect, Supernumerary nipple, 3-4 finger cutaneous syndactyly, Thin vermilion ... OMIM:615236
Costello Syndrome
Hyperextensibility of the finger joints, Ventricular septal defect, Rhabdomyosarcoma, Short neck,... OMIM:218040
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Chromosome 9P Deletion Syndrome
Short neck, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Long toe, Tape... OMIM:158170
Chime Syndrome
Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clavicle, Supernume... ORPHA:3474
8Q12 Microduplication Syndrome
Ventricular septal defect, Narrow mouth, Short foot, Everted lower lip vermilion, Long philtrum, ... ORPHA:228399
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Abnormality of the vertebral spinous processes, Absent nipple, ... ORPHA:1299
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect, Flexion contracture, Cleft palate, Open mouth, Slend... OMIM:147800
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Thick lower lip ve... OMIM:220500
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... OMIM:122600
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Hypothy... OMIM:601005
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Broad toe, Tented upper lip vermilion, Ventricular septal defect, Dental crowding, ... OMIM:612582
Yuan-Harel-Lupski Syndrome
Joint laxity, Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Sandal ... OMIM:616652
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Acc... OMIM:245600
Intellectual Developmental Disorder, Autosomal Dominant 48
Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Tracheo... OMIM:617751
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Narro... OMIM:164220
Arboleda-Tham Syndrome
Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corners of mouth, Short philt... OMIM:616268
3Mc Syndrome 1
Conjunctival telangiectasia, Dental crowding, Clinodactyly of the 5th finger, Atrial septal defec... OMIM:257920
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Adducted thumb ORPHA:89844
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Mosaic Trisomy 1
Thoracic scoliosis, Congenital diaphragmatic hernia, Orofacial cleft, Finger clinodactyly, Pulmon... ORPHA:1692
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,... ORPHA:261272
Limb-Mammary Syndrome
Syndactyly, Absent nipple, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syn... ORPHA:69085
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Patent foramen oval... OMIM:269860
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Short neck, Patent ductus arteriosus, Bilateral cleft lip and palate, Abn... ORPHA:2001
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus arteriosus, Orofacia... ORPHA:2328
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Joint laxity, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneur... OMIM:617168
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Elbow dislocation, Cryptorchidism, Irregular femoral epiphysis, Submucou... OMIM:613805
Lateral Meningocele Syndrome
Prominent metopic ridge, Ventricular septal defect, Dental crowding, Hyperlordosis, Short neck, K... ORPHA:2789
Coffin-Siris Syndrome 12
Joint laxity, Facial palsy, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submuco... OMIM:619325
Keutel Syndrome
Ventricular septal defect, Miscarriage, Short hallux, Premature fusion of phalangeal epiphyses, D... OMIM:245150
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ... ORPHA:261330
Burn-Mckeown Syndrome
Ventricular septal defect, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Thin vermilion bord... OMIM:608572
3Q29 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Short neck, Abnormality ... ORPHA:251038
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d... OMIM:619769
Legius Syndrome
Acute monocytic leukemia, Paroxysmal atrial tachycardia, Mitral valve prolapse, Ovarian neoplasm,... ORPHA:137605
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Tapered finger, Submucous cleft hard palate, Downturned co... OMIM:619680
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital hip dislocation, Congenital diaphragmatic hernia, Short ne... OMIM:601803
Cleft Soft Palate
Cleft soft palate OMIM:119570
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Death in infancy, Ventricular septal defect, Postaxial polydactyly, S... OMIM:614576
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Leukocytosis, Hema... OMIM:243150
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, D... OMIM:618950
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, High, narrow pal... ORPHA:2554
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Congenital malformation of the... ORPHA:3455
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d... OMIM:615508
Williams-Beuren Syndrome
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Early onset of sexual ma... OMIM:194050
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Tricuspid regurgitation, Ventricular septal defect, Exaggerated cupi... OMIM:615879
Orofaciodigital Syndrome Type 4
Joint dislocation, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingi... ORPHA:2753
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Tapered finger, Patent ductus arte... OMIM:613870
Ogden Syndrome
Everted upper lip vermilion, Torticollis, Ventricular septal defect, Broad hallux, High, narrow p... ORPHA:276432
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Non-midline cleft lip, Abnormality of the p... ORPHA:3429
Stankiewicz-Isidor Syndrome
Sacral dimple, Ventricular septal defect, Absent thumb, Cryptorchidism, Patent ductus arteriosus,... OMIM:617516
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Ky... OMIM:603387
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Joint laxity, Aganglionic megacolon, Hyperlordosis, Kyphosis, High, narrow p... OMIM:162300
Myopathy With Extrapyramidal Signs
Joint laxity, Hepatomegaly, Tented upper lip vermilion, Ventricular septal defect, Short neck, Sp... OMIM:615673
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Secundum atrial septal defect, High palate,... OMIM:249420
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Patent ... OMIM:300472
Caudal Regression Syndrome
Decreased muscle mass, Maternal diabetes, Missing ribs, Joint stiffness, Cryptorchidism, Aplasia/... ORPHA:3027
Neuroocular Syndrome
Hyperextensibility of the finger joints, Sacral dimple, Scapular winging, Genu recurvatum, Remnan... OMIM:619539
Hurler Syndrome
Short neck, Endocardial fibroelastosis, Abnormal vertebral morphology, Hepatomegaly, Death in inf... ORPHA:93473
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Meier-Gorlin Syndrome 7
Bowing of the legs, Heart block, Anteriorly placed anus, Vertebral segmentation defect, High pala... OMIM:617063
Neurofibromatosis-Noonan Syndrome
Short neck, Secundum atrial septal defect, Cryptorchidism, Thick vermilion border, Pulmonic steno... OMIM:601321
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hemivertebrae, Widely-spaced maxillary central incisors, Tapered finger, Diastema, Cryptorchidism... OMIM:301040
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea... OMIM:314390
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Abnormal heart morphology, Abnormality of the vertebral column, S... OMIM:276950
Mosaic Trisomy 16
Syndactyly, Single coronary artery origin, Ventricular septal defect, Maternal diabetes, Short th... ORPHA:1708
Tolchin-Le Caignec Syndrome
Arachnodactyly, Diastasis recti, Precocious puberty, Submucous cleft hard palate, Cardiac rhabdom... OMIM:618971
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly, Accelerated skeletal maturation, Hip d... OMIM:618798
Nephrotic Syndrome, Type 11
Ventricular septal defect, Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Dilat... OMIM:616730
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Clinodactyly, Short philtrum, Widely spaced teeth, Chorioretinal coloboma, Clinodactyly of the 5t... OMIM:280000
Heart And Brain Malformation Syndrome
Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, High, narrow palate,... OMIM:616920
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... OMIM:235510
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned... ORPHA:352665
Birk-Barel Syndrome
Sacral dimple, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft pala... OMIM:612292
Hajdu-Cheney Syndrome
Osteopenia, Short neck, High palate, Premature loss of teeth, Iris coloboma, Dislocated radial he... OMIM:102500
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Sagittal craniosynost... OMIM:618027
Mirage Syndrome
Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal hypoplasia, Thrombocytopenia, Patent ... OMIM:617053
X Small Rings
Joint laxity, Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Bicuspid aorti... ORPHA:96201
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short distal phalanx of finger OMIM:609166
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Esophageal atresia, Atrial septal defect, Broad thumb, Smoot... OMIM:614526
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Stiff neck, Fused cervical vertebrae, Scoliosi... ORPHA:268882
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Atrial septal ... OMIM:600373
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Sacral dimple, Dental crowding, Cleft soft palate, Kyphoscoliosis, Abno... OMIM:616331
Elsahy-Waters Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Brachydactyly, Bilateral cryp... OMIM:211380
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Thin upper lip vermilion, Hyperextensibility of the finger joints, Macroorchidism, ... OMIM:309520
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... OMIM:235750
Cerebrocostomandibular Syndrome
Death in infancy, Ventricular septal defect, Tracheomalacia, Kyphosis, Posterior rib gap, Cleft p... ORPHA:1393
Steinfeld Syndrome
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypopl... OMIM:184705
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Death in infancy, Ventricular septal defect, Cryptorchidism, Neonatal death OMIM:613730
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Bilateral c... OMIM:300998
Weiss-Kruszka Syndrome
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bo... OMIM:618619
Bohring-Opitz Syndrome
Joint dislocation, Flexion contracture, Atrial septal defect, Dislocated radial head, Syndactyly,... OMIM:605039
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragm... OMIM:613309
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:614114
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Finger syndactyly, Abnormality of the thyroid gland, Kyphosis, Scoliosis... ORPHA:1969
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Conical incisor, Atrial septal defect, Microdontia, Atrioventric... ORPHA:289
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Ventricular septal defect... ORPHA:79329
Short Stature-Micrognathia Syndrome
Joint laxity, Ventricular septal defect, Bowing of the legs, Coxa valga, Cryptorchidism, Metaphys... OMIM:617164
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Ventricular septal defect, Non-midline cleft lip, Delayed skeletal m... ORPHA:1770
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Supernumerary nipple, Cryptorch... ORPHA:3255
Sotos Syndrome
Joint laxity, Ventricular septal defect, Accelerated skeletal maturation, High, narrow palate, Mu... OMIM:117550
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Microdontia, Clin... OMIM:618268
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Diabetes mellitus, Ventricular septal defect, Sandal gap, Narrow mouth,... OMIM:270450
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, High, narrow palate, Short philtrum, Atrial septal defect, Finger syn... ORPHA:464738
Holoprosencephaly
Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep philtrum, Abnormal f... ORPHA:2162
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Asplenia, Dextrotransposition of the great arteries, Atrial septal de... OMIM:270100
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hamartoma of tongue, Med... OMIM:263520
Chromosome 2Q37 Deletion Syndrome
Short fourth metatarsal, Short metacarpal, Hypothyroidism, Short toe, Subvalvular aortic stenosis... OMIM:600430
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the f... ORPHA:2256
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defec... OMIM:614921
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:609192
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... OMIM:619705
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Vertebral segmentation defect, High palate, Atrial septal defect... ORPHA:2745
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Osteopathia striata, Craniofacial osteosclerosis, High palate, Atrial septal def... OMIM:300373
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Abnormality of the anterior pituitary, Pul... ORPHA:75389
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Absent gallbladder, Thin upper lip vermilion, Hyperextensibility of the finger joints, ... ORPHA:163979
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Craniosynostosis, Cr... ORPHA:457193
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Ventricular septal defect, Kyphosis, 2-3 toe syndactyly, Cleft palate... OMIM:616449
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Hip dysplasia, Scoliosis, C... ORPHA:494344
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Trisomy 1Q
Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hern... ORPHA:261344
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Flexion cont... OMIM:180849
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Short neck, Splenomegaly, Panc... ORPHA:1655
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Short neck, Deep philtrum, Flexion contracture, Hemivertebrae, Abnorm... ORPHA:96334
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Joint laxi... ORPHA:653
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Hip dislocation OMIM:619083
Cerebellofaciodental Syndrome
Ventricular septal defect, Short neck, Tapered finger, Cryptorchidism, Delayed skeletal maturatio... OMIM:616202
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus, Split hand,... OMIM:600460
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Dental malocclusion, Diaphyseal sclerosis, Hepatosplenomegaly, Oste... OMIM:259730
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Proximal placement of thumb, Clinodactyly of the 5th toe, Patent ductu... OMIM:620113
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Aganglionic megacolon, Tarsal synostosis, Cryptorch... ORPHA:2473
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, High, narrow palate, Do... OMIM:122470
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Joint hypermobility,... OMIM:617360
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Brachydactyly, Ventricular septal defect, Dental crowding, Tapered fing... OMIM:619312
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... ORPHA:84064
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Chorioretinal coloboma, Iris coloboma, Finger syndactyly, Abnorm... ORPHA:2092
Van Esch-O'Driscoll Syndrome
Sacral dimple, Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulm... OMIM:301030
De Barsy Syndrome
Delayed eruption of teeth, Osteopenia, Decreased muscle mass, Congenital hip dislocation, Ventric... ORPHA:2962
Warsaw Breakage Syndrome
Ventricular septal defect, Optic disc coloboma, 2-3 toe syndactyly, Wide mouth, High palate, Clin... OMIM:613398
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Wide anterior... ORPHA:2143
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Lim... OMIM:619909
Kleefstra Syndrome
Delayed eruption of teeth, Tented upper lip vermilion, Ventricular septal defect, Bicuspid aortic... ORPHA:261494
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... OMIM:171480
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Dental crowding, Decreased response to growth hormone st... OMIM:619503
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal... OMIM:602535
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Osteoarthritis, Bone pain, Abnormal form of the verte... ORPHA:828
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Cryptorchidism... ORPHA:452
Distal Duplication 5Q
Hypoplasia of the ulna, Brachydactyly, Ventricular septal defect, Dextrocardia, Craniosynostosis,... ORPHA:96097
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Sagittal crani... OMIM:145420
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Ventricular septal defect, Joint stiffness, Scoliosis, Arthrogryposis... OMIM:614961
Methimazole Embryofetopathy
Ventricular septal defect, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophagea... ORPHA:1923
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Cleft u... OMIM:106260
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Sacral dimple, Ventricular septal defect, Misc... ORPHA:2438
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Orofacial ... ORPHA:268249
Aicardi Syndrome
Intestinal polyposis, Block vertebrae, Cleft upper lip, Hiatus hernia, Malabsorption, Missing rib... ORPHA:50
Feingold Syndrome 1
Asplenia, High palate, Accessory spleen, Esophageal atresia, Patent ductus arteriosus, Short toe,... OMIM:164280
Developmental Delay With Or Without Dysmorphic Facies And Autism
Thin upper lip vermilion, Ventricular septal defect, Congenital diaphragmatic hernia, Supernumera... OMIM:618454
Alg9-Cdg
Villous atrophy, Short neck, Right ventricular dilatation, Abnormal left ventricular outflow trac... ORPHA:79328
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Camptodactyly of fi... ORPHA:261236
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange... OMIM:615550
Distal Deletion 19P
Long toe, Ventricular septal defect, Arachnodactyly, Cleft palate, Joint hyperflexibility, Short ... ORPHA:96129
Mucolipidosis Type Ii
Knee flexion contracture, Abnormal long bone morphology, Patent foramen ovale, Telangiectases of ... ORPHA:576
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Pierre-Robin sequence... OMIM:620183
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal at... OMIM:615709
Maffucci Syndrome
Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary... ORPHA:163634
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Absent thumb, Absent rad... OMIM:227645
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Carious teeth, Patent ductus arteriosus, Velopharyngeal insufficiency,... OMIM:613680
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ... OMIM:154400
Kbg Syndrome
Short palm, Vertebral fusion, Syndactyly, Tented upper lip vermilion, Macrodontia, Short neck, Cr... OMIM:148050
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Postax... ORPHA:2519
Zellweger Syndrome
Hepatomegaly, Death in infancy, Ventricular septal defect, Malabsorption, Pyloric stenosis, Jaund... ORPHA:912
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Short neck, S... OMIM:300855
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Ventricular septal defect, Thoracolumbar kyphoscoliosis, Macrodontia, Short neck, Dia... OMIM:212066
Fryns Syndrome
Ectopic pancreatic tissue, Tented upper lip vermilion, Proximal placement of thumb, Short neck, A... OMIM:229850
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Situs inversus tot... ORPHA:1908
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... OMIM:224300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the... OMIM:617895
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Intestinal polyposis, Rhabdomyosarcoma, Osteolysis, Cleft palate, Coarctati... ORPHA:1052
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Death in infancy, Ventricular septal defect, Sagittal craniosynostosis, Death in chi... OMIM:616901
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Foot joint contracture, Short neck, Tapered finger, Cryptorchidism, De... ORPHA:444072
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Meckel Syndrome, Type 4
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Cleft palate, Bi... OMIM:611134
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous ... OMIM:617478
Fanconi Anemia, Complementation Group N
Aplastic anemia, Short thumb, Ventricular septal defect, Short neck OMIM:610832
Joubert Syndrome 14
Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Cleft palate, Intra... OMIM:614424
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
Orofaciodigital Syndrome Type 2
Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Short tibia, Atriov... ORPHA:2751
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory sp... OMIM:618280
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... ORPHA:217085
Gracile Bone Dysplasia
Death in infancy, Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Hypoplasti... OMIM:602361
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hepatomegaly, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Hypoplastic aceta... OMIM:620076
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, High palate, Atrial septal defect, Intrahepatic biliary dysg... OMIM:614866
Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Patent d... OMIM:300712
Oculodentodigital Dysplasia
Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Finger syndactyly, Abnorma... ORPHA:2710
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Hepatomegaly, Diaphragmatic eventration, Finger syndactyly, Ventricular septal ... OMIM:620025
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Failure of eruption of p... ORPHA:2250
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Clinodactyly, A... ORPHA:2209
Tetraamelia Syndrome 2
Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft... OMIM:618021
Alveolar Echinococcosis
Low back pain, Liver abscess, Abnormal pelvis bone morphology, Abnormal pericardium morphology, E... ORPHA:284
22Q11.2 Deletion Syndrome
Short neck, Abnormal aortic arch morphology, Hypoplasia of the thymus, Short philtrum, Atrial sep... ORPHA:567
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal... OMIM:144750
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... ORPHA:217093
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Ventricular septal defect, Overlapping toe, Lower extremit... ORPHA:163956
Esophageal Atresia
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Maternal diabetes, Cleft li... ORPHA:1199
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect, Cryptorchidism OMIM:218350
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Sacral dimple, Tricuspid regurgitation, Ventricular septal defect, Camptodacty... ORPHA:261337
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Ventricular septal defect, Ovoid vertebral ... OMIM:244450
Watson Syndrome
Pulmonic stenosis OMIM:193520
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... ORPHA:422
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... OMIM:618775
Duane Retraction Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial han... ORPHA:233
Lambotte Syndrome
Preaxial foot polydactyly, Ventricular septal defect, Narrow mouth OMIM:245552
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Supernu... ORPHA:217346
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Abnormal finger morphology, Abnormality of the wrist, Abn... ORPHA:3138
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Adr... OMIM:214100
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal thumb morphology,... ORPHA:500095
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormal form of the ve... ORPHA:818
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Omodysplasia 1
Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Increased fibular diameter,... OMIM:258315
Jacobsen Syndrome
U-Shaped upper lip vermilion, Ventricular septal defect, Short neck, Missing ribs, Pyloric stenos... OMIM:147791
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Ectopic posterior pituitary, Congenital hip dislocation, Shor... ORPHA:508488
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Ventricular septal defect, Increased overbite OMIM:618504
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Limitation of joint mobility, Bone pain, Osteoarthritis, Ec... ORPHA:2762
Cranioectodermal Dysplasia 2
Cholangitis, Short neck, Fused teeth, High palate, Widely spaced teeth, Microdontia, Atrial septa... OMIM:613610
Turnpenny-Fry Syndrome
Dental crowding, Prominent interphalangeal joints, Downturned corners of mouth, High palate, Wide... OMIM:618371
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Ventricular septal defect, Hep... ORPHA:1465
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Kyphosis, Patent ductus arteriosus, Cleft palate, Var... OMIM:153400
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Short neck, Duplication of thumb phalanx, Tarsal syno... ORPHA:2756
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Lumbar hyperlordosis, Ventricular septal defect, Cleft lip, Patent ductus arteriosus,... OMIM:616975
Tarp Syndrome
Meckel diverticulum, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Subdura... OMIM:311900
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Vascular dilatation, Pa... OMIM:606519
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Premature thelarche, High palate, Prominent finger... OMIM:147920
Opitz Gbbb Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectourethral fistula, Cryp... OMIM:300000
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Sandal gap, Joint hype... OMIM:619229
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Esophageal a... ORPHA:3380
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Joint hypermobility, Splenomegaly, Mic... OMIM:619418
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Short neck, Orofacial cleft, Downturned corners of mouth... OMIM:180700
Limb Body Wall Complex
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Broad hallux, Aplasi... ORPHA:2369
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Deep p... OMIM:227330
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Knee flex... OMIM:210710
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Proximal placement of thumb, Esophageal atresia, Deep philtrum, Preaxi... OMIM:610536
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Anemia, M... OMIM:185070
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cry... OMIM:613457
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Cleft upper lip, Hiatus hernia, Missing ribs, Preco... OMIM:304050
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Pallister-Hall Syndrome
Adrenal hypoplasia, Hemivertebrae, Gonadotropin deficiency, Atrial septal defect, Atrioventricula... ORPHA:672
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Flexion contracture, High palate, Macrovesicular hepatic steatosis, Short philtrum, D... OMIM:619127
Renpenning Syndrome 1
Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Situs inversus totalis, Cleft p... OMIM:309500
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Short neck, Tapered finge... OMIM:609460
Phelan-Mcdermid Syndrome
Sacral dimple, Ventricular septal defect, Patent ductus arteriosus, Dental malocclusion, 2-3 toe ... OMIM:606232
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... ORPHA:3078
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,... OMIM:611812
Rabson-Mendenhall Syndrome
Dental crowding, Fasting hyperinsulinemia, High palate, Atrial septal defect, Advanced eruption o... ORPHA:769
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT interval, Primary hype... ORPHA:99880
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect, Short dist... ORPHA:85202
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT interval, Primary hype... ORPHA:143
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, F... OMIM:619306
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Aort... ORPHA:805
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect, Hypothyroidism OMIM:619908
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Skeletal muscle atrophy, Tricuspid regurgitation, Cleft soft palate, Kyphoscoliosis, ... OMIM:614557
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... OMIM:607598
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Wide anterior... OMIM:222448
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Craniosynostosis, Abnormality of the ... ORPHA:166035
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Ventricular septal defect, Diastasis recti, Abnormal heart morphology ORPHA:254534
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Broad hallux, Accessory oral frenulum, Short neck, Hamartoma of tongue... ORPHA:434179
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Postaxial polydactyly, Preaxial polyd... OMIM:615503
Smith-Lemli-Opitz Syndrome
Dental crowding, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Atrial septal defect,... OMIM:270400
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
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
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Cardiomegaly, High, narrow palate, Abnormal finger m... ORPHA:3472
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver,... ORPHA:97214
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Per... OMIM:613001
Craniofacial Microsomia 1
Block vertebrae, Ventricular septal defect, Hypoplasia of facial musculature, Cleft upper lip, Pa... OMIM:164210
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate ORPHA:99742
Craniotubular Dysplasia, Ikegawa Type
Short palm, Metaphyseal dysplasia, Ventricular septal defect, Increased intervertebral space, Thi... OMIM:619727
Trichothiodystrophy
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Ventr... ORPHA:33364
Neu-Laxova Syndrome 1
Short neck, Swollen lip, Calcaneovalgus deformity, Neonatal death, Pterygium, Patent foramen oval... OMIM:256520
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... OMIM:607634
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, High, narrow palate, Reduce... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, High, narrow palate, Reduce... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, High, narrow palate, Reduce... ORPHA:99226
Turner Syndrome
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, High, narrow palate, Reduce... ORPHA:881
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect ORPHA:79243
Native American Myopathy
Cleft palate, Abnormal curvature of the vertebral column, Downturned corners of mouth, High palat... ORPHA:168572
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Ventricular septal defect, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal... OMIM:259770
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hemivertebrae, Downturned corners of mouth, Short philtrum, Atrial septal defect, Bifid uvula, Ab... ORPHA:500150
Orofaciodigital Syndrome Xiv
Natal tooth, Ventricular septal defect, Broad hallux, Hamartoma of tongue, Cleft lip, Patent duct... OMIM:615948
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... ORPHA:26793
Paternal Uniparental Disomy Of Chromosome 6
Joint laxity, Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellit... ORPHA:96191
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Macr... OMIM:617107
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal de... OMIM:619534
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Short philtrum,... OMIM:135900
Roberts-Sc Phocomelia Syndrome
Short neck, Tetraphocomelia, Knee flexion contracture, Coloboma, High palate, Atrial septal defec... OMIM:268300
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Hypoplasti... OMIM:616682
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Sacral dimple, Cleft soft palate, Hyperlordosis, Short neck, ... OMIM:619950
Congenital Tracheomalacia
Ventricular septal defect, Tracheomalacia, Cardiomegaly, Esophageal atresia, Patent ductus arteri... ORPHA:95430
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Genu valgum, Wide... OMIM:617798
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Overlapping toe, Supernumerary nipple, Crypt... OMIM:613884
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal... ORPHA:209905
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Bone pain, Rickets, Hypophosphatemic rickets, Elevated circulating parathyro... OMIM:612089
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... OMIM:620024
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc... OMIM:218600
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Thin upper lip vermilion, Sacral dimple, Toe syndactyly, Ventricular septal defect, Tapered finge... ORPHA:459070
Alagille Syndrome 1
Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Ventricular septal defect, Hepatoce... OMIM:118450
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... OMIM:181450
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Hepatoblast... OMIM:269150
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Cryptorchidism, Coloboma, ... OMIM:606851
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Cyclopia, Cleft lip, Aortic valve atresia, Cleft pal... OMIM:619895
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Thrombocytopenia, Splenomegaly, Super... OMIM:619525
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Rectal prolapse, High palate, Widely spaced teeth, Short... OMIM:303600
Microsporidiosis
Brain abscess, Myositis, Osteomyelitis, Cholangitis, Myocarditis, Abnormality of the spleen, Lymp... ORPHA:2552
Vater/Vacterl Association
Syndactyly, Ventricular septal defect, Absent radius, Esophageal atresia, Patent ductus arteriosu... OMIM:192350
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Hepatitis, Intest... ORPHA:436252
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Short toe... ORPHA:1519
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Craniosynostos... OMIM:250410
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short neck, Secundum atrial septal defect, Metaphyseal widening, Sub... ORPHA:99646
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Tangier Disease
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... ORPHA:31150
Proteus-Like Syndrome
Thymus hyperplasia, Genu recurvatum, Open bite, Splenomegaly, Abnormality of the parathyroid glan... ORPHA:2969
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... OMIM:610978
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor... OMIM:614653
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Achilles tendon calcification, Elevated circulating parathyroid hormone level, Parath... OMIM:617994
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Peptic ulcer, Myocardial infarction, Splenomegaly, Increased ... ORPHA:90041
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... OMIM:618748
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal ... OMIM:154500
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Ventricular septal defect, Complete atrioventricular canal de... OMIM:236680
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bicuspid aortic valve, High, narrow palate, Abnormal curvature of the vertebral column... OMIM:619475
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Metatarsus adductus, Abnormality of the g... ORPHA:513456
Bangstad Syndrome
Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ... ORPHA:1227
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Short neck, Cryptorchidism, Patent ductus arteriosus, Submucous cleft soft pal... ORPHA:2282
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Short phi... OMIM:216340
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Gitelman Syndrome
Maternal diabetes, Iron deficiency anemia, Prominent U wave, Abnormal T-wave, Hashimoto thyroidit... ORPHA:358
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Downturned corners of m... ORPHA:199
Seckel Syndrome 9
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Congenital diaphrag... OMIM:616777
Glucagonoma
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno... ORPHA:97280
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Patent ductus... ORPHA:141127
Diets-Jongmans Syndrome
Thin upper lip vermilion, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchid... OMIM:618846
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Hypoplasia of teeth OMIM:234050
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... ORPHA:70591
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Joint hypermobility, High, narrow palate, Hematochezia, Short philtrum... OMIM:619575
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Ventricular septal defect, Postaxial polydactyly OMIM:219730
Hyperparathyroidism 4
Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma OMIM:617343
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neoplasm of the ... ORPHA:97282
Sotos Syndrome
Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Atrial septal defec... ORPHA:821
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcino... OMIM:145001
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula... OMIM:606170
Solitary Median Maxillary Central Incisor
Cyclopia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent media... OMIM:147250
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... OMIM:123700
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Ventricular septal defect, Tapered finger, Carious teeth, Cryptorchidism, Patent ductu... OMIM:619522
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Narrow philtrum, P... OMIM:619268
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... OMIM:601992
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Small hand, Ven... OMIM:614947
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Coarctation of aorta OMIM:140850
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, Chorioretinal coloboma, Atrial septal defect, Hypothyroidi... OMIM:107480
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Death in childhood, Atrial... OMIM:243800
Proboscis Lateralis
Ventricular septal defect, Patent ductus arteriosus, Agenesis of canine, Optic disc coloboma, Oro... ORPHA:141099
Immunodeficiency 17
Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T ly... OMIM:615607
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... OMIM:171400
Familial Isolated Hyperparathyroidism
Osteopenia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Parathyr... ORPHA:99879
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cleft upper... OMIM:610829
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Leukocytosis, Flexion contracture, Genu valgum, Downtu... OMIM:619321
Grfoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Intestinal obstruction, Elev... ORPHA:97261
Proximal Renal Tubular Acidosis
Malabsorption, Enamel hypomineralization, Hypovolemia, Reduced bone mineral density, Coloboma, Su... ORPHA:47159
Ppoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Intestinal obstruction, Elev... ORPHA:97278
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Precocious puberty, Cleft palate, Short finger, Broad finger, Broad ph... ORPHA:1934
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, Sandal gap, ... OMIM:620330
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Renal Agenesis
Hypertension, Ventricular septal defect, Anal atresia ORPHA:411709
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma OMIM:608266
Birt-Hogg-Dubé Syndrome
Parathyroid adenoma, Medullary thyroid carcinoma ORPHA:122
Neurofibromatosis, Type I
Rhabdomyosarcoma, Tibial pseudarthrosis, Genu valgum, Hypertension, Pheochromocytoma, Renal arter... OMIM:162200
Primrose Syndrome
Skeletal muscle atrophy, Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture,... OMIM:259050
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Warty Dyskeratoma
Abnormality of the alveolar ridges, Oral mucosa nodule, Abnormal hard palate morphology, Focal ep... ORPHA:69745
Craniorachischisis
Bifid sternum, Congenital diaphragmatic hernia, Anal atresia ORPHA:63260
Penile Agenesis
Ventricular septal defect, Maternal diabetes, Rectal fistula, Cryptorchidism, Tracheoesophageal f... ORPHA:49
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis OMIM:145980
Autosomal Recessive Primary Microcephaly
Thin upper lip vermilion ORPHA:2512
Microcephaly 11, Primary, Autosomal Recessive
OMIM:615414

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Phc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Phc1.

No publications found that use IMPC mice or data for Phc1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Phc1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Phc1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Phc1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Phc1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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