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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Tetralogy of Fallot, Missing ribs, Atrial septal defect, Hemivertebrae, Anal atresia, Double outl... OMIM:220210
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Cleft upper lip, Scoliosis, Ventricular septal defec... OMIM:214300
Isolated Klippel-Feil Syndrome
Ectopic anus, Abnormality of the vertebral column, Abnormal sacrum morphology, Short neck, Cervic... ORPHA:2345
Catel-Manzke Syndrome
Overriding aorta, High palate, Ulnar deviation of the 2nd finger, Cleft upper lip, Short neck, Cr... OMIM:616145
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Short neck, Kyphosis, Abnormality of epiphysis morphology, Abnormal f... ORPHA:3098
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Thoracic scoliosis, Short neck, Long philtrum, Overlapping fingers... OMIM:617022
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Clinodactyly, High palate, Abnormal heart valve morphology, Short palm, Abnormality of the dentit... OMIM:126190
3C Syndrome
Abnormal hip bone morphology, Missing ribs, Abnormal mitral valve morphology, High, narrow palate... ORPHA:7
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
High palate, Abnormal heart valve morphology, Clinodactyly of the 5th finger, Pulmonic stenosis, ... ORPHA:2868
Mesoaxial Hexadactyly And Cardiac Malformation
Abnormal 3rd finger morphology, Patent ductus arteriosus, Atrial septal defect, Everted lower lip... OMIM:249670
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Abnormal macrophage morphology, Left ventricular systolic dysfunctio... ORPHA:353
Charge Syndrome
Hypothyroidism, Radial head subluxation, Cryptorchidism, Dysplastic tricuspid valve, Short thumb,... OMIM:214800
Mcdonough Syndrome
Short philtrum, Clinodactyly, Diastasis recti, Atrial septal defect, Cryptorchidism, Pulmonic ste... OMIM:248950
Digeorge Syndrome
Hypothyroidism, Bifid uvula, High, narrow palate, Ovarian cyst, Anemia, Scoliosis, Patellar dislo... OMIM:188400
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Nemaline bodies, Cervical vertebral bodies with decreased ant... OMIM:606842
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Scoliosis, Scapular winging, Ge... OMIM:305620
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Clinodactyly of the 5th finger, Scoliosis, Patellar dislocation, Tibial torsion, Apla... ORPHA:3320
Emanuel Syndrome
High palate, Kyphosis, Long philtrum, Patent ductus arteriosus, Atrial septal defect, Cryptorchid... OMIM:609029
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... ORPHA:860
Polyvalvular Heart Disease Syndrome
Short philtrum, High palate, Abnormal heart valve morphology, Aortic valve stenosis, Arrhythmia, ... ORPHA:228410
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
High palate, Cervical C2/C3 vertebral fusion, Nemaline bodies, Short neck, Long philtrum, Flexion... OMIM:616549
Mucopolysaccharidosis, Type X
Posterior scalloping of vertebral bodies, Spatulate ribs, Long philtrum, Open bite, Left ventricu... OMIM:619698
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis, Dupuytren contracture OMIM:122850
Mucopolysaccharidosis, Type Ivb
Widely spaced teeth, Osteoporosis, Pointed proximal second through fifth metacarpals, Scoliosis, ... OMIM:253010
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Thin upper lip vermilion, Atrial septal defect, Cl... OMIM:179613
Loeffler Endocarditis
T-wave inversion, Abnormal cardiomyocyte morphology, Right bundle branch block, Endocardial fibro... ORPHA:75566
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, High palate, Tetralogy of Fallot, 2-3 toe syndactyly, Patent ductus arteriosus,... ORPHA:3304
Classic Multiminicore Myopathy
High palate, Multiple joint contractures, Congenital muscular dystrophy, Muscle fiber atrophy, Co... ORPHA:324604
Mend Syndrome
High palate, Kyphosis, 2-3 toe syndactyly, Cryptorchidism, Overlapping fingers, Polydactyly, Long... OMIM:300960
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Adrenal insufficiency, Long philtrum, Pulmonic stenosis, Ven... ORPHA:251076
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal tricuspid valve morphology, Abnormal form of ... ORPHA:1354
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Absent gallbladder, Patent ductus arteriosus, Atrioventricular canal defect,... ORPHA:210122
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cholestasis, Hypertrophic cardiomyopathy, Hepatomegaly, Pulmonic stenosis, Situs... OMIM:615415
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Sacral dimple, Patent ductus ... OMIM:618845
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Narrow mouth, Flexion contracture, Osteopenia, Long toe, Abnormality of primary teeth, Skeletal m... ORPHA:75496
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Short neck, Kyphosis, Aortic regurgitation, Flared iliac wing, Jo... OMIM:252605
Nasodigitoacoustic syndrome
High palate, Enlarged epiphyses, Short phalanx of finger, Thick upper lip vermilion, Broad hallux... OMIM:255980
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Cryptorchidism, Clinodactyly of the 5th finger, Comple... OMIM:201000
Emanuel Syndrome
Bifid uvula, Long philtrum, Cryptorchidism, Scoliosis, Ventricular septal defect, Cleft palate, T... ORPHA:96170
Craniofaciofrontodigital Syndrome
Long philtrum, Gastrointestinal hemorrhage, Osteoporosis, Macroglossia, Scoliosis, Ventricular se... ORPHA:363705
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Perimembranous ventricular septal defect, Short 5th metacarpa... OMIM:617877
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Reduced ejection fraction, Arrhythmia, Congesti... ORPHA:85451
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Clinodactyly, Cryptorchidism, Anemia, Mitral regurgitation, Hypoplasia of the thymus, Lymphopenia... OMIM:612541
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Brachydactyly, Abnormal palate morphology, Cryptorchidism, Carious teeth, Thick lower lip vermili... ORPHA:2701
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Cleft upper lip, Long philtrum, Patent ductus arteriosus, Short neck, Cry... OMIM:243310
Gaucher Disease, Type I
Pancytopenia, Aortic valve stenosis, Vertebral compression fracture, Avascular necrosis, Splenome... OMIM:230800
Agenesis Of The Corpus Callosum And Congenital Lymphedema
High palate, Sacral dimple, Long philtrum, Patent ductus arteriosus, Pulmonary arterial hypertens... OMIM:613623
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Anemia, Patellar dislocation, Vent... OMIM:274000
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
3P25.3 Microdeletion Syndrome
Tapered finger, High, narrow palate, Coronary artery atherosclerosis, Scoliosis, Ventricular sept... ORPHA:435638
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Coronal cleft vertebrae, Long philtrum, Widely spaced teeth, Microdontia, N... OMIM:143095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis... OMIM:253700
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Aortic valve stenosis, Atrial flutter, Abnormal atrioventricular valve... ORPHA:324410
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Patent ductus arteriosus, Abnormal B cell morphology, Atrial septal defect,... OMIM:618223
Catel-Manzke Syndrome
Joint stiffness, Metatarsus valgus, Abnormality of epiphysis morphology, Atrial septal defect, Cl... ORPHA:1388
Osteopathia Striata-Cranial Sclerosis Syndrome
Bifid uvula, Delayed eruption of teeth, Increased bone mineral density, Hyperlordosis, High, narr... ORPHA:2780
Chromosome 18Q Deletion Syndrome
Bifid uvula, Cryptorchidism, Scoliosis, Ventricular septal defect, Dysplastic pulmonary valve, Th... OMIM:601808
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Foot dorsiflexor weakness, 2-3 toe syndactyly, Long philtrum, Patent foramen ov... ORPHA:477817
Double Outlet Right Ventricle
Narrow mouth, Tetralogy of Fallot, Intestinal malrotation, Double outlet right ventricle, Pulmoni... ORPHA:3426
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Clinodactyly, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarcta... OMIM:618164
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Exocrine pancreatic insufficiency, Long philtrum, Duplication of phalanx of... ORPHA:508498
Cardiofacioneurodevelopmental Syndrome
Brachydactyly, Kyphosis, Cryptorchidism, Clinodactyly of the 5th finger, Pulmonic stenosis, Cleft... OMIM:619123
Fanconi Anemia, Complementation Group I
Absent thumb, Hypothyroidism, Short neck, Patent foramen ovale, Bone marrow hypocellularity, Atri... OMIM:609053
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Pyloric stenosis, Ventricular septal defect, Arthrogrypo... OMIM:614262
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Weill-Marchesani Syndrome
Brachydactyly, Short thumb, Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, A... ORPHA:3449
Scheie Syndrome
Short neck, Aortic regurgitation, Spondylolisthesis, Genu valgum, Aortic valve stenosis OMIM:607016
Dextrocardia With Unusual Facies And Microphthalmia
Supernumerary ribs, Dextrocardia, Vertebral fusion, Vertebral segmentation defect, Cleft palate OMIM:221950
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, A... OMIM:265380
Spondylodysplastic Ehlers-Danlos Syndrome
Coronal cleft vertebrae, Generalized osteoporosis, Long philtrum, Abnormality of finger, Radial h... ORPHA:536471
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis, Microdontia, Everted lower lip vermilion DECIPHER:3
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Cholestasis, Hypertrophic cardiomyopathy, Situs invers... OMIM:615382
Weill-Marchesani Syndrome 3
Brachydactyly, Aortic valve stenosis, Pulmonic stenosis, Joint stiffness OMIM:614819
Cardiofaciocutaneous Syndrome 3
Short neck, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Scoliosis, Vent... OMIM:615279
Trisomy 17P
Narrow mouth, High palate, Short neck, Flexion contracture, Patent ductus arteriosus, Skeletal mu... ORPHA:261290
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Kagami-Ogata Syndrome
Coxa valga, Long philtrum, Patent ductus arteriosus, Diastasis recti, Atrial septal defect, Thin ... OMIM:608149
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Hypoplastic sacrum, Atrial septal defect, Laryngotracheomalacia, Hypoplastic left he... OMIM:617660
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Eng-Strom Syndrome
Brachydactyly, Scoliosis, Ventricular septal defect, Camptodactyly of finger, Arthritis, Abnormal... ORPHA:1937
Rhizomelic Syndrome
Bifid distal phalanx of the thumb, Pulmonic stenosis, Wide anterior fontanel, Complete duplicatio... OMIM:268250
Weill-Marchesani Syndrome 1
Brachydactyly, Aortic valve stenosis, Joint stiffness, Patent ductus arteriosus, Broad ribs, Pulm... OMIM:277600
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Coronary Arterial Fistula
Coronary artery aneurysm, Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Congestiv... ORPHA:2041
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Chorioretinal coloboma, Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta, Abnorm... ORPHA:284169
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Drooling, Patent ductus arteriosus, Clinodactyly of the 5th finger, Widely spaced tee... OMIM:619717
Kbg Syndrome
Cervical ribs, Short neck, Long philtrum, Thoracic kyphosis, Cutaneous syndactyly, Macrodontia, O... ORPHA:2332
Branchial Arch Syndrome, X-Linked
Cryptorchidism, High palate, High, narrow palate, Pulmonic stenosis OMIM:301950
Monosomy 18Q
Hypothyroidism, Left-to-right shunt, Tapered finger, Atlantoaxial abnormality, Bilateral cryptorc... ORPHA:1600
Frontometaphyseal Dysplasia 2
Bifid uvula, Cryptorchidism, Scoliosis, Ulcerative colitis, Decreased muscle mass, Cleft palate, ... OMIM:617137
Verheij Syndrome
Clinodactyly, Short neck, Long philtrum, Short 5th finger, Coloboma, Scoliosis, Vertebral fusion,... OMIM:615583
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Vascular ring, ... OMIM:601927
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Clinodactyly, Patent foramen ovale, Atrial septal defect, Short distal phalanx of ... OMIM:614261
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis, Left atrial enlargement OMIM:615377
Apert Syndrome
Bifid uvula, Cryptorchidism, Cervical C5/C6 vertebrae fusion, Ventricular septal defect, Cleft pa... OMIM:101200
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Short neck, Kyphosis, Hyperlordosis, Abnormal rib morphology, Abnor... ORPHA:2522
Mosaic Trisomy 20
Clinodactyly, Craniofacial asymmetry, Kyphosis, Cryptorchidism, Abnormal mitral valve morphology,... ORPHA:1724
Adams-Oliver Syndrome 5
Brachydactyly, Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, E... OMIM:616028
Hajdu-Cheney Syndrome
Long philtrum, Open bite, Osteoporosis, Decreased skull ossification, Partial absence of toe, Sco... ORPHA:955
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Short thumb, Flexion contracture of the... ORPHA:2712
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Block vertebrae, Dextrocardia, Situs inversus totalis, Abnormal rib morphology, Ver... OMIM:613686
Weill-Marchesani Syndrome 2
Scoliosis, Spinal canal stenosis, Ventricular septal defect, Mitral regurgitation, Tooth malposit... OMIM:608328
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Geleophysic Dysplasia 2
Aortic valve stenosis, Long philtrum, Short palm, Ovoid vertebral bodies, Joint stiffness, Cone-s... OMIM:614185
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Open mouth, Clinodactyly of... OMIM:619149
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Cor pulmonale, Hypertension, Right ventricular hypertrophy OMIM:268500
Noonan Syndrome 8
Short neck, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Hypertrophic cardiomy... OMIM:615355
Marfanoid Habitus With Situs Inversus
Kyphosis, Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Pulmonic stenosis, ... OMIM:609008
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Thick vermilion border OMIM:618499
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Skeletal muscle atrophy, Atrial septal defect, Coarctation of aor... OMIM:614300
Dominant Beta-Thalassemia
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocyto... ORPHA:231226
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Long philtrum, Joint laxity, Cone-shaped epiphysis, Pseudoepiph... OMIM:157800
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Hypoparathyroidism, Diabetes mellitus, Cleft palate, Parathyroid hypop... ORPHA:2237
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Jaundice, Giant cell hepatitis, Ventricular septal defect, Arthrogryposis m... OMIM:208085
Congenital Amegakaryocytic Thrombocytopenia
Short neck, Abnormal form of the vertebral bodies, Decreased skull ossification, Anemia, Scoliosi... ORPHA:3319
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Abnormal hip bone morphology, Tetralogy of Fallot, Joint stiffness, C... ORPHA:1166
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Abnormal sacrum morphology, Anal atresia, Scoliosis, Short middle phalanx of finge... ORPHA:1436
Myhre Syndrome
Clinodactyly, Generalized muscle hypertrophy, Cryptorchidism, Radial deviation of finger, Cone-sh... OMIM:139210
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventr... OMIM:306955
Cardiac Diverticulum
Tricuspid atresia, Diastasis recti, Pulmonary artery hypoplasia, Premature ventricular contractio... ORPHA:1686
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Abnormal joint morphology, Delayed patellar ossifica... ORPHA:485
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, High palate, Solitary median maxillary central incisor, Patent ductus arteriosus,... OMIM:619657
Frontometaphyseal Dysplasia
Limitation of knee mobility, Bifid uvula, Scoliosis, Metaphyseal widening, Short diaphyses, Cleft... ORPHA:1826
Frontoocular Syndrome
Narrow mouth, High palate, Narrow philtrum, Coronal craniosynostosis, Atrial septal defect, Pulmo... OMIM:605321
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Leukopenia, Postaxial foot polydactyly, Coxa valga, Abnormal left ventricular f... OMIM:301056
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Bifid uvula, Atrial septal defect, Pulmonic stenosis, Submucous cleft hard palate OMIM:619239
Dandy-Walker Malformation With Postaxial Polydactyly
Postaxial hand polydactyly, Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus OMIM:220220
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Arterial Tortuosity Syndrome
Hiatus hernia, High palate, Flexion contracture, Long philtrum, Aortic regurgitation, Generalized... OMIM:208050
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Short distal phalanx of the... ORPHA:370010
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Flexion contracture, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Beta-Thalassemia Major
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Osteoporosis, Diabetes melli... ORPHA:231214
Jacobsen Syndrome
Missing ribs, Long philtrum, Cryptorchidism, Hypoplastic left heart, Scoliosis, Ventricular septa... ORPHA:2308
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Mitral regurgitation, Patent ductus arteriosus... OMIM:612561
Koolen-De Vries Syndrome
Cryptorchidism, Everted lower lip vermilion, Widely spaced teeth, Scoliosis, Vertebral fusion, Ve... OMIM:610443
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Clubbing, Cor pulmonale OMIM:247610
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Gingival bleeding, Internal hemorrhage, Volvulus, Righ... ORPHA:335
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Giant cell hepatitis, Ventricular septal defect, Arthrogryposis multiplex congenita, Ri... OMIM:613404
Tyshchenko Syndrome
High palate, Atrial septal defect, Cryptorchidism, Supernumerary nipple, High, narrow palate, Pul... OMIM:615102
Noonan Syndrome 2
High palate, Short neck, Leukemia, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism... OMIM:605275
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Cryptorchidism, Widely spaced teeth, High, narrow palate, Scolios... OMIM:300967
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Noonan Syndrome 14
Clinodactyly, Short neck, Long philtrum, Kyphosis, Aortic regurgitation, Cryptorchidism, Hypertro... OMIM:619745
Duane-Radial Ray Syndrome
Small thenar eminence, Sandal gap, Short thumb, Scoliosis, Ventricular septal defect, Aplasia of ... OMIM:607323
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Submucous clef... OMIM:619227
Noonan Syndrome 4
Thick vermilion border, Short neck, Atrial septal defect, Cryptorchidism, Hypertrophic cardiomyop... OMIM:610733
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Hypertrophic cardiomyopathy, Abnormality of the lymphatic system, Pulmonic stenosis ORPHA:638
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Hepatic bridging fibrosis, Portal i... OMIM:613759
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Histiocytosis, Ventricular septal defect, Hallux valgus, Tibial torsion, Cardiomega... OMIM:602782
Noonan Syndrome 10
High palate, Short neck, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Hypertro... OMIM:616564
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Vertebral segmentation defect, Tetralogy of Fallot, Missing ribs, Foot polydact... ORPHA:3186
Costello Syndrome
Short neck, Cryptorchidism, Thickened Achilles tendon, Thick lower lip vermilion, Hypertrophic ca... ORPHA:3071
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyopathy, Death in in... OMIM:619433
Pfeiffer-Palm-Teller Syndrome
Joint stiffness, Aortic valve stenosis, Enamel hypoplasia OMIM:261560
Microphthalmia, Syndromic 2
Hypothyroidism, Bifid uvula, Long philtrum, Hammertoe, Cryptorchidism, Sandal gap, Radiculomegaly... OMIM:300166
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 verte... OMIM:613702
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Sacral dimple, Atrial septal defect, Thick lower lip vermilion, Widely-spaced max... OMIM:608227
Meckel Syndrome, Type 7
Biliary cirrhosis, Hepatosplenomegaly, Postaxial foot polydactyly, Patent ductus arteriosus, Panc... OMIM:267010
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Unilateral cryptorchidism, Accelerated skeletal maturation, ... ORPHA:137634
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Hepatomegaly, Jaundice, Glossoptosis, Ventricular septal defect, Death in i... OMIM:614876
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Long philtrum, Cryptorchidism, Clinodactyly of the 5th finger, Microdontia, Ventricular septal de... OMIM:610759
Takenouchi-Kosaki Syndrome
Clinodactyly, Short philtrum, Dental malocclusion, Long philtrum, Patent ductus arteriosus, Crypt... OMIM:616737
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Thakker-Donnai Syndrome
Narrow mouth, Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Tetralogy of Fallot, Short n... ORPHA:1780
Noonan Syndrome 9
Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Narrow mouth, Genu varum, Abnormal hip bone morphology, Overriding aorta, Abnormal aortic arch mo... ORPHA:1110
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Robinow Syndrome
Missing ribs, Long philtrum, Tricuspid atresia, Cryptorchidism, Syndactyly, Scoliosis, Ventricula... ORPHA:97360
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Clinodactyly, High palate, Dilated cardiomyopathy, Patent... OMIM:619343
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Popov-Chang syndrome
Long philtrum, Clinodactyly of the 5th finger, Pulmonic stenosis, Scoliosis, Hypertension, Small ... OMIM:618428
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cryptorchidism, Clinodactyly of the 5th finger, Scoliosis, Camptodactyly of toe, Cle... OMIM:619110
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Hip dysplasia, Cleft palate, Long upper lip, Hip dislocation, High palate, Abnormality... ORPHA:93359
Femoral-Facial Syndrome
Missing ribs, Long philtrum, Cryptorchidism, Scoliosis, Ventricular septal defect, Thin upper lip... OMIM:134780
Noonan Syndrome 12
Tetralogy of Fallot, 11 pairs of ribs, Thrombocytopenia, Supravalvular aortic stenosis, Proximal ... OMIM:618624
Noonan Syndrome 5
Thick vermilion border, Short neck, Arrhythmia, Atrial septal defect, Cryptorchidism, Hypertrophi... OMIM:611553
Microphthalmia, Syndromic 9
Hypoplastic spleen, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Cryptorc... OMIM:601186
Multiple Pterygium Syndrome, Escobar Variant
Long philtrum, Cryptorchidism, Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposi... OMIM:265000
Holt-Oram Syndrome
Abnormal rib morphology, Hypoplastic left heart, Scoliosis, Ventricular septal defect, Atrioventr... ORPHA:392
Roifman Syndrome
Brachydactyly, Eosinophilia, Long philtrum, Short metacarpal, Clinodactyly of the 5th finger, Sho... OMIM:616651
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced ejection fraction, Lower limb muscle weakness, P... ORPHA:268
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to f... OMIM:312150
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pulmonary arterial hyper... ORPHA:2414
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Death in chil... OMIM:253300
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve, Aortic root aneurysm OMIM:618496
Hypercalcemia, Infantile, 1
Thick lower lip vermilion, Aortic valve stenosis, Pulmonic stenosis OMIM:143880
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Anal atresia, Scoliosis, Short middle phalanx of finger, Fused cervical ... OMIM:309620
Noonan Syndrome 6
Short neck, Cryptorchidism, Hypertrophic cardiomyopathy, Juvenile myelomonocytic leukemia, Pulmon... OMIM:613224
Tarp Syndrome
Pierre-Robin sequence, Clinodactyly, Tongue nodules, Hypoplasia of proximal radius, Finger syndac... ORPHA:2886
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hepatoblastoma, Short greater sciatic notch, Total anomalous pu... OMIM:312870
Teebi-Shaltout Syndrome
Narrow mouth, Rocker bottom foot, Oligodontia, Caudal appendage, Prominent palatine ridges, Metat... OMIM:272950
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Cryptorchidism, 11 pairs of ribs, Thoracic platysp... OMIM:108720
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Atrial septal defect, Cryptorc... ORPHA:3097
Cardiofaciocutaneous Syndrome 4
Joint laxity, Abnormal aortic valve morphology, Pulmonic stenosis, Scoliosis, Ventricular septal ... OMIM:615280
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Cryptorchidism, Tapered finger, Short thumb, Tented upper lip vermilion, L... OMIM:619148
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Mmep Syndrome
Cryptorchidism, Triphalangeal thumb, Ventricular septal defect, Oral cleft, Split foot, Median cl... ORPHA:3434
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Short long bone, Abnormality of t... ORPHA:93316
Noonan Syndrome 7
Short neck, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Joint hypermobi... OMIM:613706
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Widely spaced teeth, Small hand, Sagittal craniosynostosis, Camptodactyly, ... ORPHA:459061
14Q11.2 Microdeletion Syndrome
Narrow mouth, Toe syndactyly, High palate, Toe clinodactyly, Long philtrum, Patent ductus arterio... ORPHA:261120
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic ... OMIM:185500
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
7Q11.23 Microduplication Syndrome
Tracheomalacia, Cryptorchidism, Ventricular septal defect, Thin upper lip vermilion, Diastema, He... ORPHA:96121
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Neutrophilia, Splenomegaly, Hepatomegaly, Abscess, Flaring of rib cage, Osteomyelitis... OMIM:612852
Sonoda Syndrome
Narrow mouth, Ventricular septal defect OMIM:270460
Aneurysm-Osteoarthritis Syndrome
Bifid uvula, Osteoporosis, Protrusio acetabuli, Scoliosis, Atrial fibrillation, Mitral regurgitat... ORPHA:284984
Acquired Von Willebrand Syndrome
Hypochromic anemia, Epistaxis, Normocytic anemia, Gastrointestinal hemorrhage, Aortic regurgitati... ORPHA:99147
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Aortic valve stenosis, Aortic regurgitation, Conotruncal defect, Cryptorchid... ORPHA:96147
Transaldolase Deficiency
Pancytopenia, Anemia, Ventricular septal defect, Thrombocytopenia, Short neck, Patent foramen ova... OMIM:606003
Mend Syndrome
High palate, Kyphosis, 2-3 toe syndactyly, Sacral dimple, Cryptorchidism, Overlapping fingers, As... ORPHA:401973
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu varum, Coxa valga, Carious teeth, Hypophosphatemic rickets, Hypoplasia of teeth, Pulmonic st... OMIM:613312
Asymmetric Short Stature Syndrome
Dental crowding, Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Williams Syndrome
Hypothyroidism, Long philtrum, Open bite, Cryptorchidism, Clinodactyly of the 5th finger, Everted... ORPHA:904
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnorma... OMIM:253290
Serkal Syndrome
Malrotation of small bowel, Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septa... ORPHA:139466
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short neck, Joint stiffness, High, narrow palate, Short distal phalanx of finger, Ventricular sep... ORPHA:2516
Ring Chromosome 21 Syndrome
Clinodactyly, Diabetes insipidus, Abnormal heart morphology, Scoliosis, Fused thoracic vertebrae,... ORPHA:1445
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Long philtrum, Cryptorchidism, Widely spaced teeth, Right bundle branch block, Scoli... OMIM:617506
Synaptic Congenital Myasthenic Syndromes
Type 2 muscle fiber atrophy, High palate, Skeletal muscle atrophy, Limited wrist extension, Hand ... ORPHA:98915
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Long philtrum, Dislocated radial head, Intestinal malrotation, Atrial septal defec... ORPHA:401935
Viss Syndrome
Hypothyroidism, Bifid uvula, Carotid artery tortuosity, Generalized joint laxity, High, narrow pa... OMIM:619472
Beta-Thalassemia Intermedia
Hypothyroidism, Osteoporosis, Diabetes mellitus, Persistence of hemoglobin F, Cholelithiasis, Jau... ORPHA:231222
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone morphology, Abnormal rib mo... OMIM:118100
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Biliary cirrhosis, Patent ductus arteriosus, Pancreatic cysts, Atrial septal def... OMIM:208540
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Hepatomegaly, ... ORPHA:822
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Short 5th metacarpal, Median cleft palate, Kyphosis, Short 4th metacar... OMIM:169400
Kabuki Syndrome 2
Brachydactyly, High palate, Lower lip pit, Atrial septal defect, Hypodontia, Short 5th finger, Jo... OMIM:300867
Geleophysic Dysplasia 1
Joint stiffness, Coxa valga, Short palm, Irregular capital femoral epiphysis, Camptodactyly of fi... OMIM:231050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Coloboma, Patellar dislocation, Ventricular septal defect, Patent ductus arterios... ORPHA:353281
Stickler Syndrome, Type I
Pierre-Robin sequence, Bifid uvula, Kyphosis, Beaking of vertebral bodies, Osteoarthritis, Platys... OMIM:108300
Lamb-Shaffer Syndrome
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae, Hip dysplasia, Thick vermilion border ORPHA:530983
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Clinodactyly, High palate, Bifid uvula, Kyphosis, F... OMIM:618658
Congenital Aortic Valve Stenosis
Abnormal T-wave, Aortic valve atresia, Thoracic aortic aneurysm, Endocardial fibroelastosis, Dysp... ORPHA:3093
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Narrow mouth, Cholelithiasis, Cleft vertebral arch, Coronal craniosynostosis, Contracture of the ... ORPHA:83617
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Scoliosis, Patellar dislocation, Ventricular septal defect, Mitral regurgi... OMIM:121050
Desbuquois Syndrome
Accelerated skeletal maturation, Coxa valga, Short neck, Clinodactyly of the 5th finger, Elbow di... ORPHA:1425
Fgfr2-Related Bent Bone Dysplasia
Brachydactyly, Bowing of the legs, Hypoplastic ischia, Decreased calvarial ossification, Hepatosp... ORPHA:313855
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Widely spaced teeth, High, narrow palate, Ventric... ORPHA:466791
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Split foot, Hypoplastic right heart OMIM:601348
Tbck-Related Intellectual Disability Syndrome
Clinodactyly, Hypothyroidism, Long philtrum, Diastasis recti, Cryptorchidism, 11 pairs of ribs, T... ORPHA:488632
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Long toe, Cutaneous syndactyly, Patent ductus arterios... OMIM:618316
Koolen-De Vries Syndrome
Hypothyroidism, Kyphosis, Joint hyperflexibility, Cryptorchidism, Hypodontia, Microdontia, Everte... ORPHA:96169
Brittle Cornea Syndrome
Abnormality of epiphysis morphology, Osteoporosis, Increased susceptibility to fractures, Pulmoni... ORPHA:90354
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures, Persistence of prima... OMIM:259710
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Arrhythmia, Cryptorchidism,... ORPHA:500
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Scoliosis, Precocious puberty, Dysplastic pulmonary valve, Cleft pa... OMIM:300958
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Short neck, Long philtrum, Cryptorchidism, Joint laxity, Deep philtrum, Juvenile myelomonocytic l... OMIM:613563
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proportionate shortening of all digits, Tapered finger, Tented upper lip vermilion, Small hand, T... ORPHA:280633
Feingold Syndrome Type 2
Brachydactyly, Toe syndactyly, Short thumb, Jejunal atresia, Short middle phalanx of finger, Vent... ORPHA:391646
Pitt-Hopkins-Like Syndrome 2
Drooling, Pulmonic stenosis, Scoliosis, Protruding tongue, Wide mouth OMIM:614325
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Short toe OMIM:615297
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Inte... OMIM:614326
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Loeys-Dietz Syndrome 3
Bifid uvula, Protrusio acetabuli, Scoliosis, Atrial fibrillation, Ventricular hypertrophy, Mitral... OMIM:613795
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Short neck, Abnormality of epiphysis morphology, Decrea... ORPHA:93267
Adams-Oliver Syndrome 1
Brachydactyly, Toe syndactyly, Tetralogy of Fallot, Cleft upper lip, Atrial septal defect, Supern... OMIM:100300
Bronchopulmonary Dysplasia
Right ventricular failure, Tracheobronchomalacia, Right ventricular hypertrophy ORPHA:70589
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Abnormal mitral valve morphology, Avascular necrosis, Abno... ORPHA:740
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Pelvic girdle muscle weakness, Kyphosis, Con... OMIM:607155
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Brachydactyly, Small thenar eminence, 2-3 toe syndactyly, Patent foramen ovale, Sandal gap, Joint... OMIM:618914
Storm Syndrome
Fat malabsorption, Myxomatous mitral valve degeneration, Aortic valve stenosis, Polyarticular art... OMIM:185069
Cardiofaciocutaneous Syndrome 1
High palate, Short neck, Osteopenia, Open bite, Atrial septal defect, Open mouth, Clinodactyly of... OMIM:115150
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Death in infancy, Vertebral fusion, Abnormality of the od... OMIM:277300
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae ORPHA:238722
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, High palate, Butterfly vertebrae, Vertebral segmentation defect, Short nec... OMIM:611209
Filippi Syndrome
Short philtrum, Cutaneous syndactyly, Cryptorchidism, Hypodontia, Microdontia, 2-4 toe syndactyly... OMIM:272440
Autosomal Recessive Centronuclear Myopathy
Narrow mouth, High palate, Bifid uvula, Abnormal heart valve morphology, Scapular winging, Genera... ORPHA:169186
Sc phocomelia syndrome
Clinodactyly, Wormian bones, Cleft upper lip, Phocomelia, Absent radius, Short thumb, Knee flexio... OMIM:269000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Long philtrum, Tracheomalacia, Fibular hypoplasia, Macroglossia, Ventricular sept... ORPHA:444077
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Severely r... ORPHA:444013
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Abnormality ... OMIM:612840
X-Linked Mandibulofacial Dysostosis
High palate, Cryptorchidism, Abnormal mitral valve morphology, Pulmonic stenosis, Abnormality of ... ORPHA:1131
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Chromosome 8Q22.1 Duplication Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Joint stiffness, Short palm, Short metacarpal, Li... OMIM:151200
Noonan Syndrome 3
High palate, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism... OMIM:609942
Okamoto Syndrome
Exaggerated median tongue furrow, Abnormal left ventricle morphology, Aortic valve stenosis, Open... ORPHA:2729
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Sandal gap, Clinodactyly of the 5th finger, High, narrow palate, Ventricu... ORPHA:2515
Ritscher-Schinzel Syndrome 2
Clinodactyly, Short philtrum, Protruding tongue, Patent ductus arteriosus, Atrial septal defect, ... OMIM:300963
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Short neck, Kyphosis, Arrhythmia, Subvalvular aortic stenosis, Microd... ORPHA:3191
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Aortic regurgitation, Patent ductus arteriosus, Abnormality of the cervical spine, Cryp... ORPHA:464311
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Long philtrum, Scoliosis, Ventricular septal defect, Scapular winging, G... OMIM:618870
Lateral Meningocele Syndrome
High palate, Wormian bones, Short neck, Long philtrum, Patent ductus arteriosus, Kyphosis, Crypto... OMIM:130720
17Q24.2 Microdeletion Syndrome
Short philtrum, Short neck, Pineal cyst, Otosclerosis, Upper limb undergrowth, Pulmonic stenosis,... ORPHA:529962
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Carpal osteolysis, Osteoporosis, Double outlet right ventricle, Hypertension, Ventricu... ORPHA:371428
Aarskog-Scott Syndrome
Finger syndactyly, Short palm, Long philtrum, Cleft upper lip, Abnormality of the dentition, Clin... ORPHA:915
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Right ventricular dilatation, Long philtrum, Patent ductus arteriosus, Atrial septal... OMIM:612863
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Kyphosis, Multiple joint contractures, Patent ductus arteriosus, Abnormality of t... ORPHA:464306
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Short neck, Enamel hypoplasia, Skeletal muscle atrophy, Pulmonic stenosis, Secundum ... OMIM:615802
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Abnormal bone ossification, Iron deficiency anemi... ORPHA:93315
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Thoracic scoliosis, Thoracic kyphosis, Absent muscle dystrophin expressio... ORPHA:206546
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Syst... ORPHA:555874
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormality of toe, Hypothyroidism, Cryptorchidism, Posterior pituitary hypoplasia, Tapered finge... ORPHA:268261
Cantu Syndrome
Long philtrum, Broad first metatarsal, Osteoporosis, Metaphyseal widening, Cardiomegaly, Short ne... OMIM:239850
Heart Defects, Congenital, And Other Congenital Anomalies
Ventricular septal defect, Diabetes mellitus, Interrupted aortic arch, Cervical ribs, Patent fora... OMIM:600001
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Abn... ORPHA:290
Mungan Syndrome
Megaduodenum, Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic stenosi... OMIM:611376
Leopard Syndrome 1
Missing ribs, Short neck, Delayed puberty, Subvalvular aortic stenosis, Cryptorchidism, Third deg... OMIM:151100
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Long philtrum, Patent foramen ovale, Atrial septal defect, Supernumerary nipple, Con... ORPHA:457279
Alagille Syndrome 2
Tetralogy of Fallot, Cholestasis, Atrial septal defect, Peripheral pulmonary artery stenosis, Pul... OMIM:610205
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Cerebrofacioarticular Syndrome
Narrow mouth, Osteopenia, Tracheomalacia, Anal stenosis, Caudal appendage, Pulmonic stenosis, Abs... ORPHA:314679
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Supravalvular aortic stenosis, Pulmonic ste... ORPHA:1461
Cleft Palate, Cardiac Defects, And Mental Retardation
Short 2nd finger, Cleft upper lip, 2-3 toe syndactyly, Cutaneous syndactyly, Atrial septal defect... OMIM:600987
King-Denborough Syndrome
High palate, Minicore myopathy, Thoracic kyphosis, Short neck, Cryptorchidism, Deep philtrum, Typ... OMIM:619542
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cryptorchidism, Coloboma, Patellar dislocation, Ventricular septal defect, Deviation of the hallu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cryptorchidism, Coloboma, Patellar dislocation, Ventricular septal defect, Deviation of the hallu... ORPHA:353277
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, Small hypothenar eminence, Bifid uvula, Contracture of the proximal interphalange... ORPHA:2872
Noonan Syndrome 1
Clinodactyly, Cryptorchidism, Juvenile myelomonocytic leukemia, High, narrow palate, Ventricular ... OMIM:163950
Diabetic Embryopathy
Abnormal sacrum morphology, Tetralogy of Fallot, Abnormality of the pancreas, Cryptorchidism, Abn... ORPHA:1926
Short Stature And Facioauriculothoracic Malformations
High palate, Cervical ribs, Cleft upper lip, Short neck, Ventricular septal defect, Abnormality o... OMIM:609654
Orofaciodigital Syndrome Type 5
Bifid uvula, High, narrow palate, Ectopic accessory finger-like appendage, Scoliosis, Accessory o... ORPHA:2919
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Splenomegaly, Abnormal vertebral morphology, Hepatomegaly, Spina... ORPHA:93476
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Right ventricular hypertrophy, Syncope, Angina pectoris, Right v... OMIM:265400
Fetal Minoxidil Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Ventricular septal defect ORPHA:1918
Loeys-Dietz Syndrome 4
High palate, Bifid uvula, Broad uvula, Aortic root aneurysm, Joint laxity, Ascending tubular aort... OMIM:614816
Atrial Septal Defect 1
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:108800
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Kyphosis, Postaxial foot polydactyly, 2-3 toe syndactyly, Long philtrum, Cryptorchid... ORPHA:404440
Apert Syndrome
Toe syndactyly, Ectopic anus, Bifid uvula, Finger syndactyly, Delayed eruption of teeth, Aplasia/... ORPHA:87
Lmna-Related Cardiocutaneous Progeria Syndrome
Mitral regurgitation, Pulmonary carcinoid tumor, Aortic root aneurysm, Congestive heart failure, ... ORPHA:363618
Atypical Werner Syndrome
Sclerosis of hand bone, Osteoporosis, Coronary artery atherosclerosis, Telangiectasia of the skin... ORPHA:79474
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect, Wolff-Parkinson-White syndrome OMIM:614947
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Knee flexion cont... ORPHA:166016
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Arterial intimal fibrosi... OMIM:178600
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Congenital hypothyroidism, Hypoplasia of right ventricle, Vent... ORPHA:2255
Codas Syndrome
Brachydactyly, Coronal cleft vertebrae, Abnormality of pelvic girdle bone morphology, Delayed eru... ORPHA:1458
Wildervanck Syndrome
Facial palsy, Short neck, Fused cervical vertebrae ORPHA:3456
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Genitopalatocardiac Syndrome
Cleft upper lip, Double outlet right ventricle, Right aortic arch, Ventricular septal defect, Tra... OMIM:231060
Phaver Syndrome
Butterfly vertebrae, Pterygium, Abnormal form of the vertebral bodies, Joint stiffness, Triphalan... ORPHA:2876
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Short palm, Increased bone mineral density,... ORPHA:90650
Fanconi Anemia, Complementation Group B
Absent thumb, Bilateral radial aplasia, Short neck, Patent ductus arteriosus, Tracheoesophageal f... OMIM:300514
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Hadziselimovic Syndrome
High palate, Tetralogy of Fallot, Atrial septal defect, U-Shaped upper lip vermilion, Thick lower... OMIM:612946
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Craniosynostosis, Atrial septal defect, Hand polydactyly, Coarctation of aor... ORPHA:261243
Trichohepatoenteric Syndrome 1
Narrow mouth, Tetralogy of Fallot, Bifid uvula, Long philtrum, Aortic regurgitation, Cholestasis,... OMIM:222470
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Arrhythmia, Patent ductus arteriosus, Hypertension, Ventricular septal defe... OMIM:617021
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Slender finger, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Clinodactyl... ORPHA:329224
Temple Syndrome
Clinodactyly, High palate, Bifid uvula, Short philtrum, Flexion contracture, Cryptorchidism, Join... OMIM:616222
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Mitral valve prolapse, Joint hemorrhage, Aortic valve stenosis, Epis... OMIM:193400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Congenital muscular dystrophy, Shoulder girdle muscle atro... OMIM:606612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Flexion contracture, Congenital muscular dystrophy, Skeletal muscle atrop... OMIM:253800
Coffin-Siris Syndrome 10
Clinodactyly, Persistence of primary teeth, Ventricular septal defect, Wide mouth OMIM:618506
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Short distal phalanx of finger, Fused cervical vertebrae, Broad thu... OMIM:184460
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Grange Syndrome
Short palm, Patent ductus arteriosus, Aortic regurgitation, Increased susceptibility to fractures... ORPHA:79094
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, High palate, Hyp... OMIM:612350
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Short palm, Tapered finger, Macroglossia, Bicuspid aortic valve, Broad thumb, Aortic valve stenos... OMIM:614501
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Brachydactyly, Bifid uvula, Short neck, Patent ductus arteriosus, Cryptorchidism, Hypertrophic ca... OMIM:612938
Basal Cell Nevus Syndrome
Cardiac fibroma, Ovarian carcinoma, Bifid ribs, Scoliosis, Vertebral fusion, Hemivertebrae, Cleft... OMIM:109400
Arthrogryposis, Distal, Type 3
Bifid uvula, Distal arthrogryposis, Cryptorchidism, Camptodactyly of toe, Arthrogryposis multiple... OMIM:114300
Cardiofaciocutaneous Syndrome
High palate, Abnormality of the ulna, Abnormal heart valve morphology, Long philtrum, Short neck,... ORPHA:1340
Kapur-Toriello Syndrome
Cleft upper lip, Short neck, Patent ductus arteriosus, Retinal coloboma, Atrial septal defect, Ov... OMIM:244300
Alkaptonuria
Limitation of knee mobility, Kyphosis, Intervertebral disc degeneration, Thickened Achilles tendo... OMIM:203500
Progeroid Short Stature With Pigmented Nevi
Thoracic scoliosis, Hypodontia, Irregular dentition, Bicuspid aortic valve, Diabetes mellitus, Ab... OMIM:176690
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Patent ductus arteriosus, Atrial septal defect, Triphalangeal thumb, S... ORPHA:1120
Loeys-Dietz Syndrome 5
Bifid uvula, Tented upper lip vermilion, Ventricular septal defect, Mitral regurgitation, Decreas... OMIM:615582
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachydactyly, Tetralogy of Fallot, Vertebral clefting, 2-3 toe syndactyly, Short femoral neck, L... OMIM:614701
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Sacral dimple, Long phil... OMIM:616331
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Small hypothenar eminence, Osteopenia, Patent ductus arteriosus, Triphalange... OMIM:612562
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Biventricular hypertrophy, Cryptorchidism OMIM:250951
Li-Campeau Syndrome
Hypothyroidism, Long philtrum, Patellar hypoplasia, Patent ductus arteriosus, Patent foramen oval... OMIM:619189
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Histiocytoid cardiomyopathy, Arrhythmia, Atrial septal defect, Anal atresia, Co... OMIM:309801
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Hypothyroidism, Patent foramen ovale, Patent ductus arteriosus... OMIM:601005
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Oculoauriculofrontonasal Syndrome
Narrow mouth, Cleft lip, Scoliosis, Ventricular septal defect, Broad philtrum, Cleft palate ORPHA:398156
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Coloboma, Foot oligodactyly, Scoliosis, Bilateral cleft lip and palate, Ventricu... OMIM:601357
Trisomy 13
Abnormality of pelvic girdle bone morphology, Kyphosis, Long philtrum, Patent ductus arteriosus, ... ORPHA:3378
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Otopalatodigital Syndrome Type 2
Carpal synostosis, Short thumb, Abnormal rib morphology, Scoliosis, Cleft palate, Synostosis of c... ORPHA:90652
Steinfeld Syndrome
Abnormality of the vertebral column, Absent gallbladder, Hypoplasia of the ulna, Missing ribs, Ph... OMIM:184705
Orofaciodigital Syndrome V
High palate, Tetralogy of Fallot, Bifid uvula, Unilateral cryptorchidism, Postaxial foot polydact... OMIM:174300
Legius Syndrome
Clinodactyly of the 5th finger, Pulmonic stenosis, Polydactyly, Ovarian neoplasm, Scoliosis, Acut... ORPHA:137605
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Joint laxity, Polydactyly, Ventricular septal defect, Smooth philtrum, Syndactyly OMIM:602501
Kbg Syndrome
Clinodactyly, Cervical ribs, Thoracic kyphosis, Long philtrum, Cryptorchidism, Oligodontia, Verte... OMIM:148050
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Cryptorchidism, Clinodactyly of the 5th finger, Pancreatic islet-cell hyperplasia... ORPHA:373
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, Open mouth, Joint laxity, Short 5... ORPHA:500159
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Ankle swelling, Pulmonary arte... ORPHA:275766
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tapered finger, Short phalanx of finger, Long fingers, Proximal placement o... OMIM:613458
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Increased bone mineral density, Splenomegaly, Hepatomegaly, Flared me... OMIM:259720
Holt-Oram Syndrome
Small thenar eminence, Aplasia of the ulna, Hypoplastic left heart, Ventricular septal defect, Ap... OMIM:142900
Prune Belly Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Intestinal malrotation, Cryp... ORPHA:2970
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Iron deficiency anemia, Hematemesis, Arrhythmia, Increased hematocrit, Intr... ORPHA:100076
Acrocardiofacial Syndrome
Foot polydactyly, Cryptorchidism, Mitral stenosis, Ventricular septal defect, Hallux valgus, Deat... ORPHA:2008
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, 2-3 toe syndactyly, Atrial septal def... OMIM:608572
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypophosphatemic rickets, Osteomalacia, Stippled calcifica... ORPHA:51608
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Everted lower lip vermilion, Tented upper lip vermilion, Cl... OMIM:616898
Van Esch-O'Driscoll Syndrome
Bifid uvula, Atrial septal defect, Scoliosis, Pulmonary valve atresia, Ventricular septal defect,... OMIM:301030
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Coloboma, Ventricular septa... OMIM:618652
Singleton-Merten Syndrome 1
Expanded phalanges with widened medullary cavities, Tendon rupture, Osteoporosis, Hypoplasia of t... OMIM:182250
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Long philtrum, Cryptorchidism, Sandal gap, Clinodactyly of the 5th finge... ORPHA:251014
Peters-Plus Syndrome
Long philtrum, Diastasis recti, Cryptorchidism, Clinodactyly of the 5th finger, Widely spaced tee... OMIM:261540
Koolen-De Vries Syndrome Due To A Point Mutation
Hypothyroidism, Primary adrenal insufficiency, Tracheomalacia, Cryptorchidism, Everted lower lip ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypothyroidism, Primary adrenal insufficiency, Tracheomalacia, Cryptorchidism, Everted lower lip ... ORPHA:363958
Degcags Syndrome
Pancytopenia, Long philtrum, Tracheomalacia, Cholestasis, Cryptorchidism, Short thumb, Iron defic... OMIM:619488
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Aortic regurgitation, Coarctation of aorta, Hy... ORPHA:402075
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypothyroidism, Bifid uvula, Cryptorchidism, Macroglossia, Coloboma, Scoliosis, Ventricular septa... ORPHA:453499
Joubert Syndrome 18
Joint laxity, Polydactyly, Ventricular septal defect, Kyphoscoliosis, Camptodactyly OMIM:614815
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Bifid uvula, Short neck, Delayed eruption of teeth, Patent ductus arteriosus, Paten... OMIM:300990
Ileal Neuroendocrine Tumor
Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Extrahepatic c... ORPHA:100078
Jejunal Neuroendocrine Tumor
Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Extrahepatic c... ORPHA:100077
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Ectopic anus, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hyp... ORPHA:94066
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Thoracic kyphoscoliosis, 2-3 toe syndactyly, Lumbar hyperlordos... ORPHA:313892
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Abnormality of the dentition, Craniosynostosis, Ventricular septal defect OMIM:616901
Myhre Syndrome
Bifid uvula, Cryptorchidism, Abnormal rib morphology, Hypertension, Gingival cleft, Cleft palate,... ORPHA:2588
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Pentalogy Of Cantrell
Tetralogy of Fallot, Absent gallbladder, Abnormal pericardium morphology, Non-midline cleft lip, ... ORPHA:1335
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Ventricular septal defect, Truncus arteriosus OMIM:601355
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Median cleft palate, Patent foramen ovale, Patent duct... OMIM:301043
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Short neck, Flexion contracture, Multiple prenatal fractures, Osteopenia, Short ri... OMIM:616897
Keratoconus Posticus Circumscriptus
Brachydactyly, Short neck, Cleft upper lip, Clinodactyly of the 5th finger, Limited elbow extensi... OMIM:244600
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Supernumerary ribs, Missing ribs, Vertebral hypoplasia, Patent duc... OMIM:206900
Kleefstra Syndrome 2
Scoliosis, Bifid uvula, Everted lower lip vermilion, Kyphosis OMIM:617768
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Pulmonic stenosis,... ORPHA:70474
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Hypoplastic left heart, Scoliosis, Ventricular septal defect, Smooth philtru... ORPHA:1727
15Q14 Microdeletion Syndrome
Short philtrum, Kyphosis, Long philtrum, Atrial septal defect, Scoliosis, Ventricular septal defe... ORPHA:261190
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Anencephaly 2
Cleft of alveolar ridge of maxilla, Median cleft palate, Median cleft lip OMIM:619452
19P13.12 Microdeletion Syndrome
Hypothyroidism, Long philtrum, Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Scolio... ORPHA:254346
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Scoliosis, Ventricular septal defect ORPHA:357225
Blackfan-Diamond Anemia
Short thumb, Ventricular septal defect, Persistence of hemoglobin F, Thrombocytopenia, Macrocytic... ORPHA:124
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Megaloblastic anemia, Ventricular... ORPHA:49827
Fetal Trimethadione Syndrome
High palate, Tetralogy of Fallot, Atrial septal defect, Scoliosis, Ventricular septal defect, Tra... ORPHA:1913
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Cli... ORPHA:2916
Char Syndrome
Toe syndactyly, Thick vermilion border, Short philtrum, Patent ductus arteriosus, Clinodactyly of... ORPHA:46627
Trigonocephaly With Short Stature And Developmental Delay
Broad alveolar ridges, Lambdoidal craniosynostosis, High palate, Clinodactyly of the 5th finger, ... OMIM:314320
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Epiphyseal stippling of toe phalanges, Ca... ORPHA:79345
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Right atrial enlargement, T lymphocytopenia, Endocardial fibroelastosis, Impa... OMIM:619313
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Patent ductus arteriosus, Atrial septal defect, Posterior rib fusion, Pulmonary arterial hyperten... OMIM:608406
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, Long philtrum, Radial head subluxation, 11 pairs of ribs, Osteopo... OMIM:271640
Monosomy 13Q34
Hematochezia, Hepatic steatosis, Postaxial foot polydactyly, Osteochondrosis, Pulmonic stenosis, ... ORPHA:96168
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... OMIM:613751
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Metopic suture patent to nasal root, Multiple suture craniosynostosis, Fifth finger ... ORPHA:3369
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Coarctation of aorta, Tricuspid valve prolapse, Pulmonary arterial hypertension,... ORPHA:2396
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Cryptorchidism, Scoliosis, Hallux valgus, Submucous cleft of soft and hard palate, G... ORPHA:261537
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, Bifid uvula, 2-3 toe syndactyly, Postaxial foot polydac... OMIM:263540
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Postaxial hand polydactyly, Ventricular septal defect, Mitral regurgitation, Abnorm... ORPHA:83473
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation OMIM:114065
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft lip, Hypoplastic left heart, Ventricular septal defect, Cleft pal... ORPHA:2476
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Brachydactyly, Cholestasis, Short ribs, Cone-shaped epiphyses of the phalanges of the hand, Splen... OMIM:615630
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Bifid uvula, Sandal gap, Flared femoral... ORPHA:1427
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
High palate, Short neck, Aortic regurgitation, Atrial septal defect, Cryptorchidism, Joint laxity... OMIM:607721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Flexion contracture, Congenital muscular dystrophy, Crypto... OMIM:613156
Scimitar Syndrome
Abnormality of the vertebral column, Tricuspid atresia, Pulmonary artery hypoplasia, Left-to-righ... ORPHA:185
Mosaic Trisomy 9
Endocardial fibroelastosis, Cryptorchidism, Dextrocardia, Scoliosis, Ventricular septal defect, H... ORPHA:99776
Diaphanospondylodysostosis
Missing ribs, Short neck, Absent or minimally ossified vertebral bodies, Narrow pelvis bone, Abno... ORPHA:66637
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Clinodactyly of the 5th finger, Ventricular septa... OMIM:618974
Gm1 Gangliosidosis
Cherry red spot of the macula, Long philtrum, Macroglossia, Scoliosis, Ventricular septal defect,... ORPHA:354
Meacham Syndrome
Accessory spleen, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Death in infan... OMIM:608978
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Cleft upper lip, Postaxial foot polydactyly, 2-3 toe synd... OMIM:264480
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Recurrent fractures, Cryptorchidism, Abnormal rib morphology, H... ORPHA:2772
Dysosteosclerosis
Delayed eruption of teeth, Hypoplastic vertebral bodies, Increased bone mineral density, Recurren... ORPHA:1782
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Subvalvular aortic stenosis, Increased variability in muscle fiber diameter, Ankle flexion contra... OMIM:619461
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Short philtrum, Aortic root aneurysm, Atrial septal defect, Open mouth, Cryptorchidism, Joint lax... OMIM:301039
Diamond-Blackfan Anemia 1
Colon cancer, 11 pairs of ribs, Short thumb, Ventricular septal defect, Thrombocytopenia, Cleft p... OMIM:105650
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Ventricular septal defect, Truncus arteriosus, Neonatal death, Syndactyly OMIM:228940
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Anemia, Intestinal atresia, Ventricular septal defect, Abnor... ORPHA:3405
Gorlin Syndrome
Brachydactyly, Hypogonadotropic hypogonadism, Cryptorchidism, Vertebral wedging, Carious teeth, A... ORPHA:377
Spondylo-Ocular Syndrome
Thoracic kyphosis, Short neck, Long philtrum, Facial hypotonia, Osteoporosis, Platyspondyly, Vent... ORPHA:85194
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Open mouth, Increased variability in muscle fiber diameter, Myopathy, Ventricular... OMIM:616816
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothyroidism, Abnormality of the anterior pituitary, Cryptorchidism, Osteoporosis, Increased ci... ORPHA:438213
Hardikar Syndrome
Cholestasis, Cholangitis, Bile duct proliferation, Osteoporosis, Hypertension, Ventricular septal... OMIM:301068
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Mowat-Wilson Syndrome
Bifid uvula, Cryptorchidism, Tapered finger, Everted lower lip vermilion, Widely spaced teeth, Sc... ORPHA:2152
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal hip bone morphology, Cryptorchidism, Sandal gap, Clino... ORPHA:193
Alagille Syndrome
Short philtrum, Hypoplasia of the ulna, Abnormal form of the vertebral bodies, Cholestasis, Atria... ORPHA:52
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Bifid uvula, Short neck, Patent ductus arteriosus, Thoracolumbar scoliosis, Ventricu... OMIM:300472
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, High palate, Bifid uvula, Craniosynostosis, Short femoral neck, Cholesta... OMIM:266920
Acrofacial Dysostosis, Palagonia Type
Cleft upper lip, Oligodontia, Unilateral cleft lip, Hypoplasia of the odontoid process, Abnormal ... OMIM:601829
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Arrhythmia, Atrial septal defect, Cryptorchidism, Situs inversus totalis, C... OMIM:249270
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Abnormal rib morphology, Congenital diaphragmatic her... ORPHA:1488
Wolf-Hirschhorn Syndrome
Accessory spleen, Cryptorchidism, Short thumb, Scoliosis, Vertebral fusion, Ventricular septal de... OMIM:194190
Galloway-Mowat Syndrome 7
Clinodactyly, High palate, Dilated cardiomyopathy, Partial duplication of thumb phalanx, Cleft li... OMIM:618348
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Recombinant 8 Syndrome
Tetralogy of Fallot, Cleft upper lip, Gingival overgrowth, Patent ductus arteriosus, Abnormality ... ORPHA:96167
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Peters Plus Syndrome
Long philtrum, Abnormal pulmonary vein morphology, Cryptorchidism, Clinodactyly of the 5th finger... ORPHA:709
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Long philtrum, Cryptorchidism, Bifid distal phalanx of toe, Macroglos... OMIM:268310