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Gene: Megf8 MGI:2446294

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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:
multiple EGF-like-domains 8
Synonyms:
b2b288Clo,  m687Ddg,  Egfl4,  b2b1702Clo

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 Megf8 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 Megf8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Patent ductus arteriosus, Postaxial hand polydacty... ORPHA:65759
Carpenter Syndrome 2
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Knee flexi... OMIM:614976

The table below shows human diseases predicted to be associated to Megf8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... OMIM:270100
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... OMIM:605376
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Abnorm... ORPHA:294975
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:615524
Meacham Syndrome
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Congeni... OMIM:608978
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal mal... OMIM:619657
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... OMIM:615415
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp... OMIM:231060
Tricuspid Atresia
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... ORPHA:1209
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly... OMIM:615996
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... OMIM:619702
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Hypoglossia With Situs Inversus
Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia OMIM:612776
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac... OMIM:314390
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... ORPHA:261243
Holt-Oram Syndrome
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen... ORPHA:392
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thu... ORPHA:1120
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... ORPHA:860
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic left heart OMIM:236110
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Hypopla... OMIM:619142
Meacham Syndrome
Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus t... ORPHA:3097
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal r... ORPHA:1354
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... OMIM:618300
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... OMIM:217085
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal... OMIM:616589
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal... ORPHA:185
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... OMIM:613807
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Dextrocardia
Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inve... ORPHA:1666
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, C... OMIM:619123
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Micrognathia, Bifid nasal tip... OMIM:619343
Cat Eye Syndrome
Biliary atresia, Atrial septal defect, Vesicoureteral reflux, Patent ductus arteriosus, Total ano... OMIM:115470
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia ORPHA:66630
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, A... OMIM:201000
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pan... ORPHA:1926
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Fetal Trimethadione Syndrome
Ventricular septal defect, Depressed nasal bridge, Micrognathia, High palate, Transposition of th... ORPHA:1913
Pentalogy Of Cantrell
Absent gallbladder, Hypospadias, Renal agenesis, Abnormal pericardium morphology, Ventricular sep... ORPHA:1335
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, High palate, Atrial septal ... OMIM:612946
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Micrognathia, Patent ductus... ORPHA:2863
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Pseudotrisomy 13 Syndrome
Renal agenesis, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, ... OMIM:264480
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Depressed nasal ridge, Cleft palate, Hypoplas... ORPHA:1727
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Asplenia, Abnormal lung lobation, Finger clinodactyly, High pala... ORPHA:99776
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Arthritis, Abnormal cardiac... ORPHA:1937
Double Outlet Right Ventricle
Hypoparathyroidism, Cyanosis, Ventricular septal defect, Intestinal malrotation, Depressed nasal ... ORPHA:3426
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Parachute mitral valve, Prominent nose, Short philtrum, Gastroesophageal reflux,... OMIM:618316
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Short... OMIM:164280
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno... OMIM:617478
Chromosome 16P13.3 Deletion Syndrome, Proximal
Broad hallux, Abnormality of the kidney, Hypoplastic left heart, High palate, Polysplenia, Clinod... OMIM:610543
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenita... OMIM:614294
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Pulmonary artery atresia, Atrial ... OMIM:601186
Pseudo-Torch Syndrome 1
Microretrognathia, Hepatomegaly, Anteverted nares, Petechiae, Cleft lip, Patent ductus arteriosus... OMIM:251290
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... OMIM:610205
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Bilateral choanal ... ORPHA:1200
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Exaggerated cupid's bow, Ventricular septal defect, Micrognathia, Deep ph... ORPHA:261120
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Posterolateral diaphragmatic hernia, Sand... OMIM:613177
Distal Duplication 17Q
Hallux valgus, Accessory spleen, Rhizomelia, Overlapping toe, Arachnodactyly, Cleft palate, Genu ... ORPHA:3379
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose ORPHA:2015
Adams-Oliver Syndrome 4
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Short toe, Absent middle ph... OMIM:615297
Down Syndrome
Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov... OMIM:190685
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... OMIM:249670
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplication of thumb phalanx... OMIM:617926
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Anencephaly 2
Anophthalmia, Median cleft lip, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate OMIM:619452
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Micrognathia, High palate, Pa... OMIM:619699
Meckel Syndrome, Type 1
Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation of the hepatic ductal plat... OMIM:249000
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Patent ductus arteriosus, Postaxial hand polydacty... ORPHA:65759
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect, Rhizomelia, Micrognathia, Wide nasal bridge, Downturned c... ORPHA:93267
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Lo... OMIM:613630
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo... ORPHA:261183
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi... ORPHA:2256
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia OMIM:611884
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... OMIM:301068
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Overlapping toe, Ventricular septal defect, Unilateral renal agenesis, High... OMIM:618494
Gombo Syndrome
Microphthalmia, Delayed puberty, Abnormal heart morphology OMIM:233270
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Abnormality of the urinary system, Tetralogy of Fallot, Anomalous pulmo... ORPHA:2184
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Wide nasal bridge, Orofacial cleft, Perimembranous ventricula... OMIM:618804
Megabladder, Congenital
Multiple glomerular cysts, Bicuspid aortic valve, Ventricular septal defect, Left ventricular non... OMIM:618719
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Dextrocardi... OMIM:615994
Prune Belly Syndrome
Congenital hip dislocation, Atrial septal defect, Vesicoureteral reflux, Multicystic kidney dyspl... ORPHA:2970
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:614679
Meckel Syndrome
Accessory spleen, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, P... ORPHA:564
Acropectoral Syndrome
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... OMIM:605967
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis, A... ORPHA:1759
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease, Renal hy... OMIM:617661
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Thin upper lip vermilion, Dental crowding, Anteverted nares, Short toe, Pierre-... OMIM:617877
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Acetabular dysplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Ab... OMIM:179613
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch m... ORPHA:2059
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... OMIM:613759
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Protruding tongue, Respiratory tract infe... ORPHA:93400
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... OMIM:619910
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Metata... ORPHA:1388
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,... OMIM:173800
8P23.1 Microdeletion Syndrome
Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Patent duc... ORPHA:251071
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventricular septal defect, Microvesicul... OMIM:619418
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Polyhydramnios, Lateral clavicle ho... OMIM:615503
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Pericardial effusion, Depressed nasal ridge, Cleft palate, Microph... OMIM:613885
17Q21.31 Microduplication Syndrome
Anteverted nares, Abnormality of the dentition, Micrognathia, High palate, Short philtrum, Malar ... ORPHA:217340
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Paten... OMIM:618142
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Petechiae, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial... OMIM:620296
Chops Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, High, narrow palate, Horseshoe... OMIM:616368
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Atrial septal defect... OMIM:617063
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Prolidase Deficiency
Hepatomegaly, Depressed nasal bridge, Petechiae, Micrognathia, Splenomegaly, Recurrent pneumonia,... OMIM:170100
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan... OMIM:600001
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Petechiae, C... OMIM:608013
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Tooth agenesis, Mesomelia, Abnormal mitral valve morphology, Convex nasal ridge, Ab... ORPHA:1277
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... OMIM:620005
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cle... ORPHA:3434
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Long nose, Wide na... OMIM:619995
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilion, Velopharyngeal ... ORPHA:363444
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Anteverted nares, Depresse... OMIM:608149
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Single transverse palmar crease, Dextrocar... ORPHA:2437
Even-Plus Syndrome
Epiphyseal dysplasia, Recurrent urinary tract infections, Atrial septal defect, Renal hypoplasia,... OMIM:616854
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis OMIM:244400
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Cyanosis, Micrognathia, Cryptorchidism, Patent ductus... ORPHA:3304
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft OMIM:611638
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, A... OMIM:145420
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short thumb, Short middle phalanx of ... ORPHA:391646
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide nose, Prominent nose, Broad nasal tip, Bulbous nose, Wide mouth, E... OMIM:617982
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... OMIM:614326
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Ellis Van Creveld Syndrome
Micromelia, Epispadias, Atrial septal defect, Atrioventricular canal defect, Emphysema, Synostosi... ORPHA:289
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Cryptorchidism, Bulbous nose, Wide mouth, Macroglossia, Everted lower lip... OMIM:616789
Lethal Congenital Contracture Syndrome 10
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow pala... OMIM:617022
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... OMIM:618845
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Abnormal heart morphology ORPHA:91412
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog... ORPHA:3266
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am... OMIM:253300
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, High, narrow palate, Flexion contracture, Aortic isthmus hypopla... OMIM:180849
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Wide nose, Wide nasal bridge, Dysphagia, Atrial septal defect, Hypoplastic spl... ORPHA:89844
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Cutis marmorata, Mediastinal lymphade... ORPHA:91138
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar... ORPHA:228190
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Ventricular septal defect, Intestinal malrotation, Ectopi... ORPHA:401935
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Mitral valve prolapse, Atypical scarring of skin, Bruising susceptibility, Pete... OMIM:225310
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Birk-Aharoni Syndrome
Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricular septal defect, Long nasal b... OMIM:620071
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Asplenia, Long fingers, Patent ductus art... OMIM:617746
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... OMIM:613095
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nas... OMIM:601927
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Diabetes insipidus, Petechiae, Splenomegaly, Vasculitis, Erythema, Multiple gastric... OMIM:225750
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Postaxial hand polydactyly, Renal hypoplasi... ORPHA:75389
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Atrial se... OMIM:607323
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:614876
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Small hand, Mitral valve prolapse, Joint hyperflexibility, Pulmo... ORPHA:2868
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphol... ORPHA:2257
Congenital Factor Xiii Deficiency
Post-partum hemorrhage, Inflammation of the large intestine, Delayed onset bleeding, Ecchymosis, ... ORPHA:331
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:606763
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Fucosidosis
Recurrent respiratory infections, Wide nose, Hepatomegaly, Depressed nasal bridge, Angiokeratoma,... OMIM:230000
Verheij Syndrome
Renal agenesis, Truncus arteriosus, Ventricular septal defect, Hip dislocation, Renal hypoplasia,... OMIM:615583
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Hypoplasia of the thymus, Leukocytosis, Hematochezia, Congenital pulmonary airway ... OMIM:243150
Marden-Walker Syndrome
Inguinal hernia, Anteverted nares, Dextrocardia, Micrognathia, High, narrow palate, Pyloric steno... OMIM:248700
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... ORPHA:95430
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of live... OMIM:619463
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... ORPHA:1832
Triploidy
Omphalocele, Hepatomegaly, Intestinal malrotation, Micrognathia, Cryptorchidism, Non-midline clef... ORPHA:3376
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Micrognathia, Carious teeth, Pericardial effusion, Multiple muscular ventricular septal defects, ... OMIM:620070
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Broad nasal tip, Bifid nasal tip... OMIM:136760
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect, Cleft palate OMIM:617616
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, High palate, Everted lower lip vermilion, Short nose, Aplas... ORPHA:1695
Phenobarbital Embryopathy
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Unilateral ... ORPHA:1919
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... OMIM:313850
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Burn-Mckeown Syndrome
Ventricular septal defect, Unilateral renal agenesis, 2-3 toe syndactyly, Renal hypoplasia, Cleft... OMIM:608572
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Sandal gap, Patent ductus arteriosus, Dysplastic tricuspid valve, Small han... OMIM:612863
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Complete... OMIM:617925
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Small hand, Abnormal left ... OMIM:300845
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... OMIM:212093
Trisomy 1Q
Omphalocele, Microretrognathia, Wide nose, Anophthalmia, Ventricular septal defect, Depressed nas... ORPHA:261344
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnorma... ORPHA:2311
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the... ORPHA:2255
Fetal Valproate Spectrum Disorder
Omphalocele, Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion bor... ORPHA:1906
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Wide nasal bri... OMIM:618067
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Short nose OMIM:300577
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Chromosome 9P Deletion Syndrome
Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Anteverted n... OMIM:158170
Houge-Janssens Syndrome 3
Inguinal hernia, Broad nasal tip, Muscular ventricular septal defect, High palate, Short philtrum... OMIM:618354
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninf... OMIM:603909
Trisomy 13
Median cleft lip, Ventricular septal defect, Anophthalmia, Abnormality of the dentition, High, na... ORPHA:3378
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Ventricular septal defect, Preaxial hand polydactyly, Postaxial ha... OMIM:236680
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Micrognathia, Flexion co... OMIM:263210
Emanuel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux... OMIM:609029
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc... OMIM:614034
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Complete atrioventricula... ORPHA:476126
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Desmosterolosis
Renal agenesis, Intestinal malrotation, Micromelia, Renal hypoplasia/aplasia, Metatarsus adductus... ORPHA:35107
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Absent thumb, Short thumb, Patent foramen ovale,... OMIM:609053
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Bicuspid aortic valve, Cleft soft palate, Anteverted nares, Abnormal... OMIM:618529
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,... OMIM:601357
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... OMIM:273800
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cleft palat... ORPHA:1166
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Perimembrano... OMIM:611376
Transaldolase Deficiency
Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarc... ORPHA:101028
Ehlers-Danlos Syndrome, Periodontal Type, 2
Prominent superficial veins, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Colon ... OMIM:617174
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Ventricular septal defect, Congenital diaphragmatic hernia, ... ORPHA:2143
Floating-Harbor Syndrome
Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Atrial septal de... OMIM:136140
Floating-Harbor Syndrome
Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Gastroesophageal reflux, Atrial septal defe... ORPHA:2044
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypospadias, Renal dysplasia, Postaxial polydactyly OMIM:615985
Hamamy Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Complete atrioventricular canal defect,... OMIM:611174
Cutaneous Small Vessel Vasculitis
Cutis marmorata, Erythema, Vasculitis, Urticaria, Abnormal oral cavity morphology, Purpura ORPHA:889
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... ORPHA:84064
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Upper limb muscle weakness, Stroke, Total ... ORPHA:494424
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Depressed nasal bridge, Cleft upper lip, Deep philtrum, ... OMIM:206920
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Renal hypoplasia, Abnormal heart morphology, Anal atresia OMIM:276950
C Syndrome
Omphalocele, Hepatomegaly, Short metacarpal, Ventricular septal defect, Anteverted nares, Accesso... OMIM:211750
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Flexion contracture, Ventricular septal defect OMIM:619306
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Petechiae, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytope... ORPHA:520
Fanconi Anemia, Complementation Group F
Atrial septal defect, Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia ... OMIM:603467
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral renal hypoplas... ORPHA:508488
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... OMIM:314050
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Preaxial p... OMIM:243605
Sonoda Syndrome
High axial triradius, Ventricular septal defect OMIM:270460
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem... OMIM:229850
Sotos Syndrome
Mandibular prognathia, Atrial septal defect, Ventricular septal defect, Anteverted nares, Depress... OMIM:117550
Maternal Phenylketonuria
Ventricular septal defect, Anteverted nares, Micrognathia, Esophageal atresia, Wide nasal bridge,... ORPHA:2209
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Ectopic kidney, Hypoplasia of t... OMIM:212780
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Congenit... ORPHA:2260
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hy... ORPHA:824
Marden-Walker Syndrome
Skeletal muscle atrophy, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney d... ORPHA:2461
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... OMIM:267010
Noonan Syndrome 3
Atrial septal defect, Ventricular septal defect, Sagittal craniosynostosis, Polyhydramnios, Pectu... OMIM:609942
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Mitral valve prolapse, S... OMIM:211960
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrot... ORPHA:2326
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Ventricular ... OMIM:618619
Coronary Artery Dissection, Spontaneous
Cystic medial necrosis, Coronary artery dissection OMIM:122455
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... OMIM:263630
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Pulmo... OMIM:616894
Hydrolethalus
Anophthalmia, Micromelia, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft... ORPHA:2189
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect OMIM:235750
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip... ORPHA:411986
Pallister-Hall Syndrome
Ectopic kidney, Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Micropenis, Distal sh... OMIM:146510
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Ventricular septal defect, Narrow chest, Polyhydramnios OMIM:615731
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Epistaxis, Cerebral hemorrhage, Leukopenia,... ORPHA:99828
Boudin-Mortier Syndrome
Joint laxity, Mallet finger, Long toe, Arachnodactyly, Pectus excavatum, Long fingers, Pseudoepip... OMIM:619543
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Single transverse palmar crease, Renal hypoplasia, High palate, Hypertro... OMIM:619053
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Mosaic Trisomy 1
Omphalocele, Hepatic agenesis, Microretrognathia, Ventricular septal defect, Depressed nasal brid... ORPHA:1692
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Microgna... ORPHA:96097
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Genu valgum, High palate, Atri... ORPHA:1035
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Abnormal ... ORPHA:2538
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Thakker-Donnai Syndrome
Ventricular septal defect, Anteverted nares, Congenital diaphragmatic hernia, Bulbous nose, Trach... ORPHA:1780
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Long philtrum, Atrial septal defect, Mi... OMIM:300887
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Short palm, Patent foramen ovale, Hepatomegaly, Hamartoma o... OMIM:269860
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Mirage Syndrome
Hypergonadotropic hypogonadism, Petechiae, Adrenal hypoplasia, Cryptorchidism, Esophageal strictu... OMIM:617053
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion, Mediastinal lymphadenopathy OMIM:234810
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Renal... OMIM:614815
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatospl... OMIM:618955
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ... ORPHA:3138
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Truncus arte... OMIM:611867
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Narrow greater sciatic notch... OMIM:312870
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Brachydactyly, Overlapping toe, Single transverse palmar cre... ORPHA:221120
Xk Aprosencephaly Syndrome
Ventricular septal defect, Abnormal nostril morphology, Narrow mouth, Atrial septal defect, Micro... ORPHA:3469
Distal Duplication 15Q
Omphalocele, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Cryptorchidism, Downt... ORPHA:1707
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... ORPHA:373
Vater/Vacterl Association
Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachus, Vesicoureteral reflux,... OMIM:192350
Pseudo-Torch Syndrome 2
Hepatomegaly, Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteri... OMIM:617397
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalan... OMIM:618419
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the spleen, Abnormal tibia morphology, Abnormality of the ureter, Hypospadias ORPHA:2487
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot, Hydronephrosis ORPHA:251076
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hypoplasia of the iris, Gastroesophageal reflux, Hernia, Abnorma... ORPHA:2092
Chime Syndrome
Short palm, Abnormal dental morphology, Ventricular septal defect, Aplastic clavicle, Abnormality... ORPHA:3474
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Intestinal malrotation, Adrenal hypoplasia, Micrognathia, Hypoplasia of the premaxil... ORPHA:2166
Distal Deletion 19P
Long toe, Ventricular septal defect, Arachnodactyly, Joint hyperflexibility, Tricuspid valve prol... ORPHA:96129
Renpenning Syndrome
Mandibular prognathia, Macrodontia, Prominent nose, High, narrow palate, Cleft palate, Heterotaxy... ORPHA:3242
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Microphthalmia, Cutaneous photosensitivity, Arthrogryposis multiplex ... OMIM:616570
Fanconi Anemia, Complementation Group W
Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Polysplenia, Abnormal radial ray morpho... OMIM:617784
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Epistaxis, Splenomegaly... OMIM:612840
Cranioectodermal Dysplasia 2
Cholangitis, Renal cyst, High palate, Atrial septal defect, Patent foramen ovale, Syndactyly, Hep... OMIM:613610
Li-Campeau Syndrome
Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus, Gastrointes... OMIM:619189
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Glossitis, Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Pate... OMIM:277380
Lowry-Maclean Syndrome
Delayed eruption of teeth, Convex nasal ridge, Cleft palate, Abnormal heart morphology OMIM:600252
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Joint contracture of the... OMIM:618914
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... ORPHA:1329
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li... OMIM:147250
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Atrial septal defect, ... ORPHA:93946
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Cl... ORPHA:261197
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Bilateral single transverse palmar creases, Ventricular septal defect, Renal hypo... ORPHA:2516
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Dextrocardia, Malabsorption, Abnormality of the pancreas, Anter... ORPHA:2315
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Abnormal hemidiaphragm mor... ORPHA:980
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Abnormal rib morphology, Abnormal shoulder morphology, C... ORPHA:2345
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Single transverse palmar crease, Gastroesophageal reflux, Atrial septal de... OMIM:194190
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Neu... OMIM:612541
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... OMIM:615981
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Anophthalmia Plus Syndrome
Anophthalmia, Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi... ORPHA:1104
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... ORPHA:280779
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Short philtrum, Widely spaced teeth, Hepatomegaly, Depressed nasal bridge, Cleft lip, Pulmonary a... OMIM:280000
Mckusick-Kaufman Syndrome
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... ORPHA:2473
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Cleft ala nasi, Cleft palate OMIM:164180
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Micrognathia, Short philtrum, Patent foramen ovale, Anteverted n... OMIM:618454
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Macroglossia, D... OMIM:275100
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruptio... OMIM:618506
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged... ORPHA:849
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Gl... OMIM:618021
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asple... OMIM:185070
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Holoprosencephaly
Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, Deep philtrum, Panhypop... ORPHA:2162
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibility, Abnorma... OMIM:613235
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Boutonneuse Fever
Petechiae, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Thrombocytopenia ORPHA:83313
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... OMIM:619534
Emanuel Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Truncus arteriosus, Ventricular sep... ORPHA:96170
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... OMIM:142900
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Notched primary central incisor, Muscular ventricular septal defect OMIM:620062
Esophageal Atresia
Bronchitis, Maternal diabetes, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal ... ORPHA:1199
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Patent foramen ... ORPHA:2745
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal defect, Phocomelia, Wrist f... OMIM:268300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Secundum atr... OMIM:619758
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... ORPHA:2911
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Postaxial polydactyly, Vascular ring, Knee fl... OMIM:603387
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Ventricular s... OMIM:620210
8P Inverted Duplication/Deletion Syndrome
Anteverted nares, Dextrocardia, Micrognathia, Precocious puberty, High, narrow palate, Cryptorchi... ORPHA:96092
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, Secundum atrial septal def... OMIM:600987
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Omphalocele, Increased T3/T4 ratio, Congenital hypothyroidism, Macrogl... OMIM:614450
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Esophageal atresia, Patent ductus arte... ORPHA:77298
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus,... OMIM:619717
Snakebite Envenomation
Abnormal bleeding, Epistaxis, Angioedema, Erythema, Neuromuscular dysphagia, Intracranial hemorrh... ORPHA:449285
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology... ORPHA:1842
Trigonocephaly 1
Omphalocele, High, narrow palate, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum OMIM:190440
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Stroke, Anomalous pulmonary venous return ORPHA:99105
Feingold Syndrome Type 1
Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Ne... ORPHA:391641
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Depressed nasal bridge, Cutis marmorata, Hernia, Microphthalmia, Leuke... OMIM:602501
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Preaxial hand polydacty... OMIM:175700
9q subtelomeric deletion syndrome
Short nose, Abnormal heart morphology, Anteverted nares, Protruding tongue DECIPHER:52
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Prominent nose, Micrognathia, High, narrow palate, Deep philtrum, Knee fle... ORPHA:435638
Alagille Syndrome 1
Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Hypoplasia of ... OMIM:118450
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:300991
Tick-Borne Encephalitis
Stiff neck, Facial palsy, Abnormal glossopharyngeal nerve morphology, Polyneuritis, Abnormal auto... ORPHA:297
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... ORPHA:1959
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Broad nas... OMIM:222448
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Sandal gap, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... ORPHA:2515
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Short thumb, Patent ductus... OMIM:612561
Thrombocytopenia 5
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... OMIM:616216
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hyp... OMIM:200995
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... OMIM:613686
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Congenital diaphragmatic hernia, Prominent nose... OMIM:301022
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Choanal atresia, Esophageal atresia, Muscular ventricular septal defect, Submucous cle... OMIM:619227
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... ORPHA:290
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Anteverted nar... OMIM:247200
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Short thumb, Patent ductus arteriosus, Abnormal cardiac septum morpholo... ORPHA:2712
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bifid uvula, Cleft palate OMIM:258320
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disea... ORPHA:540
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... OMIM:614922
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly OMIM:607539
Miller-Dieker Syndrome
Omphalocele, Abnormal upper lip morphology, Short nose, Anteverted nares ORPHA:531
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysgenesis, Tetral... OMIM:615542
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Depressed nasal bridge, Ventricular septal defect, Micromelia, Hypoplasia of the rad... OMIM:617895
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, Beta 2-microg... OMIM:611555
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral c... OMIM:618652
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Submucous cleft hard palate, Renal hypoplasia, Aortic valve stenosis, Hypop... OMIM:617660
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... OMIM:300972
Temple-Baraitser Syndrome
Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Pulmonic stenosis, Atrial... OMIM:611816
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Atrial septal defect, Anteverted nares, Micrognathia, Delayed erupti... OMIM:619356
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Patent ductus arteriosus, Deviation of finger, Joint hyperflexibility... ORPHA:2412
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad... OMIM:613792
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Prominent nose, Micrognathia, Widely spaced teeth, ... OMIM:612474
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Pericardial effusion, Anemia, Thrombocytopenia ORPHA:231111
Catel-Manzke Syndrome
Micrognathia, Glossoptosis, High palate, Bifid uvula, Short metacarpal, Overriding aorta, Cleft u... OMIM:616145
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Pulmonary sequestration, Atrial... OMIM:618330
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Tetralogy Of Fallot
Abnormal nasal morphology, Cryptorchidism, Thin vermilion border, Tetralogy of Fallot ORPHA:3303
8Q12 Microduplication Syndrome
Short foot, Atrial septal defect, Ventricular septal defect, Abnormal cranial nerve morphology ORPHA:228399
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene... ORPHA:487796
White Forelock With Malformations
Atrial septal defect, Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinoda... ORPHA:2475
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis OMIM:619881
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Premature graying of hair, H... ORPHA:79477
Bilateral Polymicrogyria
Arthrogryposis multiplex congenita, Facial diplegia, Talipes equinovarus, Abnormal glossopharynge... ORPHA:268940
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... OMIM:301043
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Schwannoma ORPHA:221098
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... ORPHA:508498
3C Syndrome
Hypoplasia of penis, High, narrow palate, Abnormal tricuspid valve morphology, Gastroesophageal r... ORPHA:7
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder, Aplasia/Hypoplasia of the thumb, Median cleft lip, Overriding ao... ORPHA:3186
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... ORPHA:158029
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Abnorm... ORPHA:83473
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Atr... OMIM:620024
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus, Short dis... OMIM:601355
Alg12-Cdg
Redundant skin, Micrognathia, Short philtrum, Gastroesophageal reflux, Patent foramen ovale, Recu... ORPHA:79324
Velocardiofacial Syndrome
Ventricular septal defect, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft... OMIM:192430
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Natal tooth, Microretrognathia, Rhizomelia, Hamartoma of tongue, Prominent nose, Cle... OMIM:616300
Cerebrooculonasal Syndrome
Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p... ORPHA:66625
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Anteverted nares, Femoral hernia, Micrognathia, High, narrow palat... ORPHA:2849
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Anteverted nares, De... ORPHA:404440
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Recurrent respiratory infections, Median cleft palate, Hepatomegaly ORPHA:2432
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibili... OMIM:609821
Complement Component 4A Deficiency
Cutaneous photosensitivity, Vasculitis, Purpura OMIM:614380
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Short nose, Thin vermilion border, Narrow mouth ORPHA:2370
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,... ORPHA:99104
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality... ORPHA:1046
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypo... OMIM:236500
Melnick-Needles Syndrome
Short humerus, Hypoplastic scapulae, Coxa valga, Pectus excavatum, Flared metaphysis, Hip disloca... OMIM:309350
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal ... ORPHA:477817
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... OMIM:619902
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Preaxial ... ORPHA:2549
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Tufted Angioma
Petechiae, Thrombocytopenia, Hemangioma of the lip, Anemia, Purpura ORPHA:1063
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Abnormal localization of kidney, Uln... ORPHA:921
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Thrombocytopenia, Abnorm... ORPHA:464329
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ... OMIM:614576
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropath... ORPHA:3033
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, High palate, Micropenis, Atrioventricular canal defect OMIM:618929
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla... ORPHA:2842
Microphthalmia, Syndromic 2
Anophthalmia, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of... OMIM:300166
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Thin upper lip vermilion, Prominent nose, Micrognathia, Cryptorchidism, Patent ductu... OMIM:609625
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Bulbous... ORPHA:369891
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Micromelia, Polyhydramnios, Aplastic clavicle, Hydrocephalus, Preaxial pol... OMIM:616546
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Missing ribs, ... OMIM:617866
Fetal Alcohol Syndrome
Thin upper lip vermilion, Atrial septal defect, Anteverted nares, Congenital diaphragmatic hernia... ORPHA:1915
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Patent ductus arteriosus, ... ORPHA:171839
Fibrochondrogenesis 1
Omphalocele, Short palm, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Rhizomel... OMIM:228520
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Wide nose, Bicuspid aortic valve, Ventricular septal defect, Aortic roo... OMIM:616652
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... ORPHA:2847
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocyto... OMIM:153670
Tetrasomy 15Q26
Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High palate,... OMIM:614846
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Isolated Atp Synthase Deficiency
Hepatomegaly, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Hypertrophic... ORPHA:254913
Contractural Arachnodactyly, Congenital
Osteopenia, Bicuspid aortic valve, Knee flexion contracture, Pectus carinatum, Atrial septal defe... OMIM:121050
22Q11.2 Deletion Syndrome
Micrognathia, Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Short p... ORPHA:567
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Mesomelic Limb Shortening And Bowing
Micrognathia, Mesomelic arm shortening, Cleft palate, Mesomelic leg shortening, Retrognathia OMIM:249710
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint laxity, Atrial septal defect, Scapular winging, Ventricular septal defect, Single transvers... OMIM:618870
Leopard Syndrome 1
Scapular winging, Hypospadias, Limited elbow movement, Unilateral renal agenesis, Complete atriov... OMIM:151100
Grange Syndrome
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Increased susceptibility to frac... ORPHA:79094
Lowry-Maclean Syndrome
Inguinal hernia, Choanal atresia, Delayed eruption of primary teeth, Congenital diaphragmatic her... ORPHA:2409
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastrointestinal dysmotili... OMIM:270400
Temtamy Syndrome
Micrognathia, Short toe, Thick lower lip vermilion, Microphthalmia, Convex nasal ridge, Abnormal ... ORPHA:1777
Penile Agenesis
Urethral atresia, male, Hydroureter, Ventricular septal defect, Rectal fistula, Fetal pyelectasis... ORPHA:49
Congenital Fibrinogen Deficiency
Abnormal bleeding, Cyanosis, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Abno... ORPHA:335
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Dysplastic tricuspid valve, ... ORPHA:1724
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Abn... ORPHA:861
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Patent ductus arteriosus, Flexi... OMIM:613870
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent ductus arteriosus after premature birth, Postaxial polydactyly, Rena... OMIM:618460
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Duodenal stenosis, Microphthalmi... ORPHA:2547
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Abnormal bleeding, Hematemesis, Pr... ORPHA:274
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Congenital Myopathy 11
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Weakness of facial... OMIM:619967
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... OMIM:274000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Chronic kidney... OMIM:615630
Cofs Syndrome
Camptodactyly of finger, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Hypogonadism... ORPHA:1466
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Hypoplastic spleen, Slender long bone, Micropenis, Ankyloglossia, Br... OMIM:602361
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis... OMIM:615993
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Limitation of j... ORPHA:3098
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged ble... OMIM:231200
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Long philtrum OMIM:125700
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Abnormal palate morphology ORPHA:1450
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplasti... ORPHA:2876
Noonan Syndrome 11
Atrial septal defect, Pectus excavatum, Pulmonic stenosis, Palmoplantar cutis laxa, Hypertrophic ... OMIM:618499
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura OMIM:604250
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ... OMIM:115197
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Increased RBC distributi... OMIM:187900
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Campomelia, Cumming Type
Bowing of the long bones, Polycystic liver disease, Pancreatic cysts, Polysplenia, Polycystic kid... OMIM:211890
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anem... OMIM:187800
Carpenter Syndrome 2
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Knee flexi... OMIM:614976
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, High pa... OMIM:617602
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Anteverted nares, Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary... OMIM:601163
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Ecchymosis, Bruising su... OMIM:614201
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal ... ORPHA:183
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Pr... OMIM:619503
Cardioacrofacial Dysplasia 2
Common atrium, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Lim... OMIM:619143
Congenital Heart Defects And Ectodermal Dysplasia
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Premature loss of primary teeth... OMIM:617364
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Anteverted nares, Micrognathia, Biliary tract abnormality, Membranous subvalvula... ORPHA:3191
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Bilateral single transverse palmar creases, Ventricular septal defect, Renal hypoplasia/aplasia, ... ORPHA:1770
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplas... ORPHA:2141
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, High, n... OMIM:122470
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Coarctation o... ORPHA:371428
Weill-Marchesani Syndrome
Ventricular septal defect, Short thumb, Limitation of joint mobility, Pulmonic stenosis, Aortic v... ORPHA:3449
10Q22.3Q23.3 Microdeletion Syndrome
Curved middle phalanx of the 4th toe, Arachnodactyly, Patent ductus arteriosus, Joint hyperflexib... ORPHA:276413
Townes-Brocks Syndrome 1
Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Vesicoureteral reflux, Atrial sep... OMIM:107480
Pierpont Syndrome
Smooth philtrum, Wide nose, Broad nasal tip, Short toe, Broad philtrum, Prominent median palatal ... OMIM:602342
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Vasculitis, Eryth... ORPHA:343
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Optic nerve hypoplasia, Cryptorchid... OMIM:301056
Trisomy 18
Omphalocele, Microretrognathia, Ventricular septal defect, Choanal atresia, Congenital diaphragma... ORPHA:3380
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V... ORPHA:90308
Anti-Glomerular Basement Membrane Disease
Purpura, Vasculitis, Anemia, Persistence of primary teeth ORPHA:375
Alagille Syndrome
Hypoplasia of the ulna, Atrial septal defect, Hepatomegaly, Ventricular septal defect, Renal hypo... ORPHA:52
Roifman Syndrome
Hip contracture, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Singl... OMIM:616651
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Abnormal capillary morphology, Cutis marmorata, Poor wound heali... ORPHA:542643
Thanatophoric Dysplasia Type 2
Encephalocele, Micromelia, Polyhydramnios, Patent ductus arteriosus, Limitation of joint mobility... ORPHA:93274
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Wrist swelling, Bone cyst, Knee osteoarthritis, Osteoporos... ORPHA:2848
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Alg9-Cdg
Villous atrophy, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Abnormal lef... ORPHA:79328
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Atrial septal defect, Giant cell hepatitis, Ventricular septal def... OMIM:208085
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... ORPHA:2008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... OMIM:253800
Frank-Ter Haar Syndrome
Redundant neck skin, Abnormally large globe, Secundum atrial septal defect, Micrognathia, High pa... OMIM:249420
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morph... ORPHA:141127
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Missing ribs, Abnormality of the sple... ORPHA:1834
Diets-Jongmans Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic he... OMIM:618846
Lambert Syndrome
Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Flexion contracture, Osteolysis involving bones of the upper limbs, Short thorax, Ost... ORPHA:88630
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Choanal... OMIM:241310
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperf... ORPHA:2772
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Ritscher-Schinzel Syndrome 2
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... OMIM:300963
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, High palate, Narrow mouth, Microphthalmia, Retrognathia ORPHA:2528
Clark-Baraitser Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Down... OMIM:617752
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Overlapping toe, Polyhydramnios, Tapered finger, Pectus excavatum, Long ... OMIM:618371
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Inguinal hernia, Hypogonadotropic hypogonadism, Choanal at... ORPHA:1135
Thanatophoric Dysplasia
Micromelia, Joint stiffness, Polyhydramnios, Abnormal sacroiliac joint morphology, Patent ductus ... ORPHA:2655
Desbuquois Syndrome
Ventricular septal defect, Camptodactyly of finger, Coxa valga, Elbow dislocation, Small hand, Co... ORPHA:1425
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Ventricular septal defect, Minimal chan... OMIM:616730
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Cryptorchid... ORPHA:1519
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Polyhydramnios, Proximal placement of thumb, Pectus ... OMIM:618624
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Short tibia, Short... ORPHA:2756
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis OMIM:615451
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Gastroesophageal reflux,... OMIM:300373
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Micrognathia, High palate, Long philtrum ORPHA:2598
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Rhizomelia, Proteinuria, Glomerulonephritis, Short iliac bones, Metaphyseal widenin... OMIM:614376
Split-Hand/Foot Malformation 3
Split hand, Renal hypoplasia, Cleft palate, High palate, Camptodactyly OMIM:246560
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Short ... OMIM:277450
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Dysphagia, Hypertrop... OMIM:616276
Cardiospondylocarpofacial Syndrome
Joint laxity, Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Muscular ventri... OMIM:157800
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth OMIM:613670
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... OMIM:617201
Mirror Movements 3
Situs inversus totalis OMIM:616059
Pierpont Syndrome
Smooth philtrum, Thin upper lip vermilion, Wide nasal ridge, Cryptorchidism, Abnormal subcutaneou... ORPHA:487825
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... ORPHA:94066
Neonatal Marfan Syndrome
Long toe, Arachnodactyly, Long fingers, Abnormal cardiac ventricle morphology, Flexion contractur... ORPHA:284979
German Syndrome
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Cryptorchidism, Wide nasal bridge,... ORPHA:2077
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P... ORPHA:85450
Okamoto Syndrome
Tented upper lip vermilion, Redundant neck skin, Abnormally large globe, Primum atrial septal def... ORPHA:2729
Stevenson-Carey Syndrome
Prominent nasal tip, Anteverted nares, Underdeveloped nasal alae, Pierre-Robin sequence, Downturn... OMIM:611961
Acalvaria
Omphalocele, Abnormal lung lobation, Cleft palate ORPHA:945
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Petechiae OMIM:611490
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact... ORPHA:380
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Syndactyly, Meckel diverticulum, Hypospadias, Single t... ORPHA:1708
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus... OMIM:606003
Non-Syndromic Metopic Craniosynostosis
Omphalocele, Wide nasal bridge ORPHA:3366
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clino... OMIM:618974
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p... ORPHA:2429
Knobloch Syndrome
Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Vesicoureteral reflux, Lymphangioma, Bi... ORPHA:1571
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Mitral valve prolapse, Long philtrum, Short nose ORPHA:90653
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... OMIM:613091
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency, Skin ulcer, Subcutaneous hemorrhage,... ORPHA:743
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Micrognathia, Cryptorchidism, Jaundice, Cleft pala... OMIM:214110
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Secundum atria... OMIM:214800
Melnick-Needles Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Omphalocele, Craniofacial hyperostos... ORPHA:2484
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... OMIM:301000
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia... OMIM:113000
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Overlapping toe, Polyhydramnios, Reduced bone mineral density ORPHA:466926
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Wide nasal bridge, Atrial... OMIM:614886
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Ap... ORPHA:2470
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
1-2 toe syndactyly, Broad hallux, Ventricular septal defect, Tapered finger, Congenital diaphragm... OMIM:301044
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Autoimmune thrombocytopenia, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urin... OMIM:601389
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... OMIM:614744
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender fi... OMIM:620393
Restrictive Dermopathy
Multiple joint contractures, Micrognathia, Scaling skin, Atrial septal defect, Aplasia/Hypoplasia... ORPHA:1662
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge... ORPHA:284169
Formiminoglutamic Aciduria
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic... ORPHA:51208
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Umbilical hernia ORPHA:254534
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Oral ulcer, Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Portal hypert... OMIM:615688
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pectus excavatum, Reduced bone mineral density, Pulmonic stenosis, Atr... OMIM:615279
Marshall-Smith Syndrome
Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short philtr... OMIM:602535
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone... OMIM:615633
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Inflammation of the large intes... OMIM:203300
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Cutis marmorata, Epistaxis, Abnorma... ORPHA:33226
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Cle... OMIM:619736
Oculoauriculofrontonasal Syndrome
Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal tip, Cleft lip, Micr... ORPHA:398156
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios ORPHA:3405
Woods Syndrome
Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Opti... OMIM:615236
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Polyhydramnios, Cardiomegaly, Multiple prenatal fractures, Beaded ribs, Flexion contr... OMIM:616897
Acromicric Dysplasia
Short palm, Short metacarpal, Anteverted nares, Bulbous nose, Thick lower lip vermilion, Small ha... ORPHA:969
Neurooculorenal Syndrome
Hypoplasia of the bladder, Dextrocardia, Short hallux, Unilateral renal agenesis, Intestinal malr... OMIM:620305
Vacterl/Vater Association
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Non-midline cleft lip, Anorectal an... ORPHA:887
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Prolonged bleeding time, Gastritis, ... ORPHA:809
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils, Thrombocytopeni... OMIM:169400
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Mesomelic/rhizomelic ... ORPHA:2347
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Bulbous nose, Orofac... ORPHA:2328
Pseudodiastrophic Dysplasia
Omphalocele, Malar flattening, Rhizomelia ORPHA:85174
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnor... ORPHA:2357
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Cleft upper lip, Cryptorchidis... OMIM:243310
Neu-Laxova Syndrome 1
Wide nose, Ventricular septal defect, Micromelia, Cleft upper lip, Swollen lip, Cryptorchidism, P... OMIM:256520
Degcags Syndrome
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p... OMIM:619488
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Palpebral ... ORPHA:261337
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Cyanosis, Petechiae, Thrombocytopenia, Leukocytosis, Gastrointes... ORPHA:90051
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Bilateral cry... OMIM:613544
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Atrial septal defect, Ecchymosis, Long philtrum, Microretrognathia, Scarring, Hiatus... OMIM:601776
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the nose ORPHA:1681
Autosomal Recessive Amelia
Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septum morphology, Amelia ... ORPHA:1027
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Acquired Purpura Fulminans
Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Acroc... ORPHA:49566
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Hypospadia... ORPHA:2438
Meningococcal Meningitis
Stroke, Petechiae, Purpura ORPHA:33475
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleura... OMIM:615355
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t... OMIM:619769
Mosaic Trisomy 14
Anteverted nares, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Cleft palate, Wide mou... ORPHA:1703
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Rocker bottom foot, Anisocytosis, Flexion contracture, Renal hypoplasia, Lacticacid... OMIM:604273
Galloway-Mowat Syndrome 7
Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Single transverse palmar crease, Prot... OMIM:618348
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Cerebral hemorrhage, Purpura OMIM:614514
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis OMIM:617092
Distal Triplication 15Q
Arachnodactyly, Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dil... ORPHA:314588
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Inguinal hernia, Petechiae, Recurrent bronchitis, Poor wound healing, Cryptorchidis... OMIM:620331
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Diabetes mellitus, Broad nasal tip, Recurrent upper respiratory tract infe... ORPHA:391372
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Ventricular septal defect, Single transverse palmar crease, Pol... OMIM:618950
Bardet-Biedl Syndrome 5
Syndactyly, Micropenis, Polydactyly, Brachydactyly OMIM:615983
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... OMIM:601349
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Common atrium, Genu valgum, Postaxial foot po... OMIM:225500
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Warfarin-induced skin necrosis, Abnormal cerebral vascular morphology, Purpura ORPHA:745
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Cockayne Syndrome Type 2
Mandibular prognathia, Hepatomegaly, Anophthalmia, Scarring, Delayed eruption of primary teeth, P... ORPHA:90322
Bardet-Biedl Syndrome 11
Polydactyly, Abnormality of the kidney OMIM:615988
Cerebrofacioarticular Syndrome
Syndactyly, Anal stenosis, Hypospadias, Renal hypoplasia, Abnormal heart morphology, Anteriorly p... ORPHA:314679
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Desmosterolosis
Rhizomelia, Patent ductus arteriosus, Cleft palate, Bilateral talipes equinovarus, Total anomalou... OMIM:602398
20Q13.33 Microdeletion Syndrome
Hallux valgus, Dilation of Virchow-Robin spaces, Hypospadias, Facial hypotonia, Tapered finger, A... ORPHA:261311
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Holoprosencephaly 11
Cleft palate, Polysplenia OMIM:614226
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Short thumb... OMIM:618821
Holoprosencephaly 7
Hypoplastic nasal septum, Median cleft palate, Bilateral cleft lip, Hypoplasia of the premaxilla,... OMIM:610828
Diamond-Blackfan Anemia 1
Reticulocytopenia, High palate, Triphalangeal thumb, Neutropenia, Atrial septal defect, Congenita... OMIM:105650
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cryptorchidism, Anal atresia, Tetralogy of Fallot, Abnormal palat... ORPHA:1381
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h... OMIM:602782
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... ORPHA:1908
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Hypertrophic cardiomyo... ORPHA:2701
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Single naris, Anosmia... ORPHA:2250
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Inguinal hernia, Dental crowding, Poor wound healing, Narrow mouth, Mitral valve prolapse, Atroph... OMIM:615539
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Bartsocas-Papas Syndrome 1
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Patent fo... OMIM:263650
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jeju... ORPHA:436252
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ... ORPHA:857
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen... OMIM:610198
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Boomerang Dysplasia
Omphalocele, Decreased response to growth hormone stimulation test, Micromelia, Aplasia/Hypoplasi... ORPHA:1263
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... ORPHA:2754
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Mucopolysaccharidosis-Plus Syndrome
Metaphyseal widening, Flexion contracture, Leukopenia, Macrovesicular hepatic steatosis, Neutrope... OMIM:617303
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Nephrocalcinosis, Cholelit... OMIM:240300
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Inguinal hernia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the ... ORPHA:1101
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum ORPHA:438178
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Abnor... OMIM:618571
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Anteverted nares... OMIM:612530
Heart And Brain Malformation Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Hig... OMIM:616920
Thrombocytopenia-Absent Radius Syndrome
Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger s... ORPHA:3320
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Ehlers-Danlos Syndrome, Classic Type, 2
Cigarette-paper scars, Atrophic scars, Hernia, Recurrent sinusitis, Bruising susceptibility, Frag... OMIM:130010
Geleophysic Dysplasia 1
Osteopenia, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Joint stiffness, Coxa v... OMIM:231050
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Ehlers-Danlos Syndrome, Hypermobility Type
Joint laxity, Osteoarthritis, Joint hypermobility, Mitral valve prolapse OMIM:130020
Meckel Syndrome, Type 4
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Renal cyst, Clef... OMIM:611134
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly OMIM:615991
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... OMIM:239300
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Isolated Anencephaly
Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Congenital diaphragmatic ... ORPHA:563609
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal... ORPHA:1225
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septa... OMIM:613404
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Abnormal coronary ar... ORPHA:488618
3Mc Syndrome 1
Omphalocele, Conjunctival telangiectasia, Dental crowding, Ventricular septal defect, Supernumera... OMIM:257920
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteriosus, Abnormal rib mor... ORPHA:2519
Aortic Aneurysm, Familial Thoracic 9
Pectus excavatum, Pectus carinatum, Arachnodactyly, Mitral valve prolapse OMIM:616166
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd toe, Short thumb, Muscular ventricular septal defect, Wide nasal bridge, Short 4th meta... OMIM:618569
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Atrial septal defect, Tapered finger, 2-3 toe syndactyly, Abnormal heart morpholog... ORPHA:485405
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ... ORPHA:439
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palat... OMIM:188400
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse, Abnormal morphology of ulna, Abnormal metacarpal morphology ORPHA:2233
Cerebrooculonasal Syndrome
U-Shaped upper lip vermilion, Anophthalmia, Anteverted nares, Prominent nasal bridge, Proboscis, ... OMIM:605627
Non-Distal Duplication 13Q
Abnormality of the dentition, Micrognathia, Thin vermilion border, High palate, Everted lower lip... ORPHA:1702
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Downturned corners of mouth, Thin vermilion bord... ORPHA:1895
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
Trisomy 12P
Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Aplasia/Hypoplasia of... ORPHA:1699
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Cleft palate, Micrognathia OMIM:243440
Schisis Association
Omphalocele, Congenital diaphragmatic hernia, Micromelia, Tracheoesophageal fistula, Cleft palate... ORPHA:63862
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Tapered finger, Patent duct... OMIM:617159
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614009
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T... ORPHA:1307
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Cleft lip, Short metatarsal, Wide nasal bridge, Cleft palate, A... ORPHA:217017
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Cutis marmorata, Velopharynge... OMIM:614701
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Flexion contracture... OMIM:210710
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Wide nasal bridge, Buphthalmos, Joint contracture, High palate, Limb un... OMIM:618005
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Tubular luminal dilatation... OMIM:219730
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Microphthalmia, Thrombocytopenia ORPHA:858
Joubert Syndrome 22
Postaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia OMIM:615665
Mass Syndrome
Pectus carinatum, Arachnodactyly, Mitral valve prolapse OMIM:604308
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, Underdevelop... ORPHA:163956
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Arterial Tortuosity Syndrome
Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hi... OMIM:208050
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d... OMIM:612562
Colonic Atresia
Omphalocele, Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inve... ORPHA:1198
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... ORPHA:139466
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of... OMIM:143095
Tarp Syndrome
Single transverse palmar crease, Glossoptosis, High palate, Atrial septal defect, Deep palmar cre... OMIM:311900
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Peripheral axonal neuropathy, Polyhydramnios, Multiple prenatal fractures, Patent ductus arterios... OMIM:616867
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Intestinal malrotation, Micrognathia, Splenomegaly, Pulmonary hypoplasia, Lower limb... ORPHA:3035
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... ORPHA:1529
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab... ORPHA:1488
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis OMIM:614874
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Agnathia-Otocephaly Complex
Wide nose, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft p... OMIM:202650
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Mitral valve pro... OMIM:609008
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum ORPHA:1389
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis OMIM:613193
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia, Purpura ORPHA:529
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... ORPHA:91387
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615504
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Periodontitis, Ecchymosis, Emphysema, Premature loss of teeth,... OMIM:130050
Distal Deletion 15Q
Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, 2-3 toe ... ORPHA:1596
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Cryp... OMIM:244300
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint laxity, Arachnodactyly, Ventricular septal defect, Pectus excavatum, Pectus carinatum, Tali... OMIM:301039
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615505
Omphalocele
Omphalocele ORPHA:660
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia ORPHA:49827
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Unilateral renal agenesis, 2-3 toe syndactyly, High palate, Talipes eq... ORPHA:3306
Polyvalvular Heart Disease Syndrome
Dental crowding, Abnormal heart valve morphology, Prominent nose, Micrognathia, Mitral valve prol... ORPHA:228410
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Hypoplasia of the ulna, Anteverted nares, Micrognathia, Shortening of a... OMIM:619135
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Joint laxity, Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly,... OMIM:619721
Codas Syndrome
Delayed eruption of teeth, Omphalocele, Short metacarpal, Short humerus, Ventricular septal defec... OMIM:600373
Braddock-Carey Syndrome 2
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia, Thro... OMIM:619981
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Preaxial hand polydactyly, Interphalangeal joint contracture of finger, Knee flexion contracture OMIM:606242
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge, Cleft palate OMIM:612913
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Microphthalmia, Smooth... OMIM:614526
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Wi... OMIM:613604
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cleft ala nasi, Abnormal thymus m... OMIM:219000
Meckel Syndrome, Type 2
Omphalocele, Intestinal malrotation, Cleft palate, Bile duct proliferation, Microphthalmia OMIM:603194
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Portal vein thrombosis, Hypersplenism, Splenomegaly, Esophageal varix,... OMIM:616028
17Q12 Microduplication Syndrome
Atrial septal defect, Finger syndactyly, Toe syndactyly, Polyhydramnios ORPHA:261272
Megalencephaly
Atrial septal defect, Long penis, Genu valgum ORPHA:2477
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Truncus arteriosus, Ventricular septal defect, Absent thumb, S... OMIM:617516
Odontochondrodysplasia
Delayed eruption of teeth, Depressed nasal bridge, Micromelia, Patent ductus arteriosus, Short pa... ORPHA:166272
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Micrognathia, Abnormal palate morphology, Narrow mouth ORPHA:1495
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Dextrocardia, Cleft palate, Hand polydactyly, Foot polydactyly ORPHA:220493
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Calcaneovalgus deformit... ORPHA:261537
Wrinkly Skin Syndrome
Delayed eruption of teeth, Microretrognathia, Inguinal hernia, Redundant skin, Progeroid facial a... OMIM:278250
Waardenburg Syndrome Type 3
Atrial septal defect, Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutan... ORPHA:896
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Mi... OMIM:616648
Otopalatodigital Syndrome, Type I
Omphalocele, Selective tooth agenesis, Short hallux, Absent frontal sinuses, Wide nasal bridge, C... OMIM:311300
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Atrial ... OMIM:250220
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal thoracic spine morphol... ORPHA:85438
Constricting Bands, Congenital
Omphalocele, Cleft upper lip, Abnormal lung lobation, Cleft palate, Gastroschisis, Ectopia cordis... OMIM:217100
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma... OMIM:303600
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Recurrent f... ORPHA:1782
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... OMIM:619148
Lessel-Kreienkamp Syndrome
Atrial septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Gastroesophageal reflux, P... OMIM:619149
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Polyhydramnios, Abnormal sacr... ORPHA:1860
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... OMIM:613426
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Abnormality of the hand, Frontal encephalocele, Abnormality of the upper li... ORPHA:521308
Autosomal Dominant Omodysplasia
Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Short palm, Malar flattening, Sh... ORPHA:93328
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Thin vermilion border, High palate, Short philtrum, Long philtrum... OMIM:617991
Coffin-Siris Syndrome 3
Wide nose, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Central diaphragmatic herni... OMIM:614608
Alg3-Cdg
Abnormality of the gastrointestinal tract, Metaphyseal chondrodysplasia, Abnormal limb bone morph... ORPHA:79321
Atelis Syndrome 1
Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Leukopenia, High palate, Atrial sept... OMIM:620184
Intellectual Developmental Disorder, Autosomal Dominant 21
Single transverse palmar crease, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, At... OMIM:615502
Cach Syndrome
Flexion contracture, Renal hypoplasia, Hepatosplenomegaly, Dysphagia, Arthrogryposis multiplex co... ORPHA:135
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly OMIM:616622
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate, Right ventricular hypertrophy, Ves... OMIM:614261
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Inguinal hernia, Anteverted nares, Underdeveloped nasal alae... OMIM:613026
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... OMIM:614669
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Inguinal hernia, Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge,... OMIM:222765
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Depressed nasal bridge, Decreased proportion of CD8-positive T cells, Bronchiolitis obliterans, H... OMIM:617241
Loeys-Dietz Syndrome 4
Inguinal hernia, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tort... OMIM:614816
Purpura Simplex
Bruising susceptibility, Menorrhagia, Epistaxis, Purpura OMIM:179000
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Prominent superficial blood v... OMIM:619472
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Depressed nasal bridge, Mic... OMIM:617061
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Recurrent bronchitis, Autoimmune t... ORPHA:1572
Renpenning Syndrome 1
Atrial septal defect, Hypospadias, Ventricular septal defect, Phimosis, Situs inversus totalis, R... OMIM:309500
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Bardet-Biedl Syndrome 3
Renal hypoplasia, Postaxial polydactyly, Brachydactyly OMIM:600151
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Autoimmune hemolytic anemia, Impaired neutrophil ch... OMIM:619374
Bresek Syndrome
Hypoplasia of the bladder, Aganglionic megacolon, Postaxial hand polydactyly, Renal hypoplasia, C... ORPHA:85284
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Gastrointestinal dysmot... ORPHA:2152
Endocrine-Cerebroosteodysplasia
Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si... OMIM:612651
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Renal agenesis, Ventricu... OMIM:220500
Methimazole Embryofetopathy
Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio... ORPHA:1923
Central Core Disease
Joint laxity, Congenital hip dislocation, Multiple joint contractures, Mitral valve prolapse, Tal... ORPHA:597
Arnold-Chiari Malformation Type I
Stiff neck, Areflexia of upper limbs, Myelopathy, Cranial nerve compression, Abnormality of the t... ORPHA:268882
Orofaciodigital Syndrome V
Recurrent respiratory infections, Sandal gap, Ventricular septal defect, Postaxial polydactyly, H... OMIM:174300
Autism Spectrum Disorder Due To Auts2 Deficiency
Decreased palmar creases, Narrow palm, Abnormal heart morphology, Congenital contracture, Umbilic... ORPHA:352490
Al-Raqad Syndrome
Joint laxity, Atrial septal defect, Sandal gap, Brachydactyly OMIM:616459
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Joint laxity, Calcaneovalgus deformity, Pectus excavatum, Mitral valve prolapse OMIM:225320
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Recurre... OMIM:616449
Peho-Like Syndrome
Short nose, Retrognathia, Open mouth OMIM:617507
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Pagod Syndrome
Omphalocele, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality of the spleen, ... ORPHA:991
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Hypospadias, Metatarsus adductus, Short thumb, High, narrow pala... ORPHA:436003
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopathy, Renal hypoplasia, Micropenis, ... OMIM:616541
Filippi Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Optic atrophy, Cu... OMIM:272440
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Maternal diab... ORPHA:280200
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
20P12.3 Microdeletion Syndrome
Atrial septal defect, Broad hallux phalanx, Broad thumb, Pectus carinatum ORPHA:261295
Giant Cell Arteritis
Pericarditis, Diabetes insipidus, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, M... ORPHA:397
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Fanconi Anemia, Complementation Group B
Renal agenesis, Ventricular septal defect, Aplastic anemia, Absent thumb, Esophageal atresia, Pat... OMIM:300514
9Q21.13 Microdeletion Syndrome
Gastrointestinal dysmotility, Abnormal tongue morphology, Abnormal heart morphology, Hip dysplasi... ORPHA:531151
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Redundant neck skin, Exaggerated cupid's bow, Anteverted nares, Dep... ORPHA:254528
Vacterl With Hydrocephalus
Absence of the sacrum, Inguinal hernia, Anophthalmia, Femoral hernia, Micrognathia, Esophageal at... ORPHA:3412
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Atrial septal defect, Toe syndactyly, Hydroureter, Single transverse p... OMIM:300707
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Bicuspid aortic valve, Single transverse palmar crease, Ventricular septal ... ORPHA:329224
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effusion, Abn... ORPHA:781
Buratti-Harel Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Broad hallux, Hypospadias, Velopharyngeal... OMIM:619314
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect, Urinary incontinence OMIM:620094
Geleophysic Dysplasia 2
Tricuspid stenosis, Joint stiffness, Limitation of joint mobility, Mitral valve prolapse, Short f... OMIM:614185
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Sup... OMIM:618164
Ehlers-Danlos Syndrome, Classic Type, 1
Inguinal hernia, Poor wound healing, Cigarette-paper scars, Irregularly spaced teeth, Mitral valv... OMIM:130000
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Atrial septal defect, Clinodactyly of the 5th finger, Patent foramen ovale... OMIM:607872
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Calcaneovalgus deformit... ORPHA:261552
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polyd... OMIM:263520
Tetrasomy 9P
Myositis, Biliary atresia, High palate, Clinodactyly of the 5th finger, Micropenis, Patent forame... ORPHA:3310
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Atrial septal def... ORPHA:79113
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve OMIM:617744
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... OMIM:608670
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Short toe, Wide nasal bridge, Cleft palate, Short foot, Narrow mo... OMIM:614078
Musculocontractural Ehlers-Danlos Syndrome
Redundant skin, High palate, Abnormal bleeding, Microretrognathia, Cleft lip, Cryptorchidism, Mal... ORPHA:2953
Kasabach-Merritt Syndrome
Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, P... ORPHA:2330
Fragile X Syndrome
Joint laxity, Pectus excavatum, Metacarpophalangeal joint hyperextensibility, Mitral valve prolapse OMIM:300624
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Broad nasal tip, Micrognathia, Cleft palate, Abnormal heart morphology, Short 5t... OMIM:239800
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... OMIM:614582
Recombinant 8 Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Cleft upper lip, Abnormality... ORPHA:96167
Noonan Syndrome 2
Atrial septal defect, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Cubitus valgus,... OMIM:605275
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Secundum atrial septal defect, Rhizomelic arm shortening, Abnormal fibular epiphy... ORPHA:96190
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Recurrent upper respiratory tract infectio... OMIM:614075
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Redundant neck skin, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Pate... OMIM:217980
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Small hand, Cleft... OMIM:619980
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Short 4th metacarpal, Mitral valve prolapse ORPHA:2183
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter... ORPHA:90324
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Anteverted nares, Femoral hernia, Protruding tongue, Cryptorchidism, Conotruncal... ORPHA:96147
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Hypoplastic ac... OMIM:620076
Thomas Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip ORPHA:3316
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Pectus excavatum, Joint hyperflexibility, Atrial septal ... ORPHA:776
Cardiac Valvular Dysplasia, X-Linked
Joint laxity, Bicuspid aortic valve, Joint stiffness, Short chordae tendineae of the tricuspid va... OMIM:314400
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Frank-Ter Haar Syndrome
Camptodactyly of finger, Joint stiffness, Osteolysis, Mitral valve prolapse, Abnormal metacarpal ... ORPHA:137834
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Tetralogy of Fallot, Abnormality of the philtrum, Abnormality of the dentition ORPHA:276422
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura OMIM:605432
Wolcott-Rallison Syndrome
Acute hepatic failure, Metaphyseal dysplasia, Renal insufficiency, Hepatomegaly, Elevated hepatic... ORPHA:1667
Mitral Valve Prolapse 1
Pectus excavatum, Mitral valve prolapse OMIM:157700
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Intestinal malrotation, Ectopic kidney, Abnormality of the spleen, Renal... ORPHA:94063
Camurati-Engelmann Disease, Type 2
Osteopenia, Hip contracture, Mitral valve prolapse, Knee flexion contracture, Hyperostosis OMIM:606631
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Holoprosencephaly 9
Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft... OMIM:610829
Achondrogenesis, Type Ib
Edema, Polyhydramnios, Micromelia, Hypoplastic ilia, Hydrops fetalis, Stillbirth, Short ribs, Abs... OMIM:600972
Achondrogenesis
Inguinal hernia, Anteverted nares, Micromelia, Micrognathia, Aplasia/Hypoplasia of the lungs, Lon... ORPHA:932
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis OMIM:612444
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, T... ORPHA:192
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Anterior pi... OMIM:206900
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Tapered finger, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux, Hip dyspla... OMIM:617219
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Patent ductus arteriosus, Cleft palate,... OMIM:153400
Delpire-Mcneill Syndrome
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia OMIM:619083
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Anteverted nares, Cutis marmorata, Protruding tongue, Cryptorchidism, ... OMIM:612938
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... ORPHA:364577
Pallister-Hall-Like Syndrome
Median cleft lip, Depressed nasal bridge, Micromelia, Micrognathia, Cleft palate, Short ribs, Mic... OMIM:241800
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, Prominent superficial veins, Inguinal hernia, Prematurely aged appearance, Redund... OMIM:618000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enteropathy, Hypopla... OMIM:235510
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cutis marmorata, Abnormal pulmonary valve morphology, Portal hyperte... ORPHA:974
17P13.3 Microduplication Syndrome
Wide nose, High palate, Short nose, Narrow mouth ORPHA:217385
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Cutaneo... OMIM:601005
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, T... OMIM:249620
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Micrognathia, Hypoplasia ... ORPHA:96334
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... ORPHA:411709
Kleefstra Syndrome
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Downturned corners of m... ORPHA:261494
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Cardiomegaly, Pectus carinatum, Shoulder dislocation, Narrow c... OMIM:245600
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasi... ORPHA:141099
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis OMIM:614017
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn... OMIM:300400
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Bicuspid aortic valve, Single transverse palmar crease, Cerebral arteriovenous... OMIM:150230
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Fetal pyelectasis, Limb hypertonia OMIM:301058
Exstrophy-Epispadias Complex
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... ORPHA:322
Tyshchenko Syndrome
Ventricular septal defect, Polyhydramnios, Pectus excavatum, Narrow chest, Pulmonic stenosis, Atr... OMIM:615102
Manitoba Oculotrichoanal Syndrome
Omphalocele, Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anu... OMIM:248450
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Microvesicular hepatic steatosis, Muscular ventricular septal defect, D... ORPHA:66634
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, Ventricular septal defect, Lambdoidal craniosynostosis, Sagittal ... OMIM:314320
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Sandal gap, Macrodactyly, Splenomegaly, Renal hypoplasia, Nephroblastoma, Venous malformation OMIM:612918
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Cleft palate, Abnormal oral frenulum morphology, Short philtrum, Microph... ORPHA:1617
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... ORPHA:2791
Isolated Splenogonadal Fusion
Abnormal penis morphology, Ectopia of the spleen, Polysplenia ORPHA:457083
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Monosomy 18Q
Arachnodactyly, Abnormal palmar dermatoglyphics, Absence of the pulmonary valve, Tapered finger, ... ORPHA:1600
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Depressed nasal ridge, Wide mouth, Short foot, Short philtrum, Short pa... ORPHA:163966
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Congenital Myopathy 17
Ureteropelvic junction obstruction, Diaphragmatic eventration, Overlapping toe, Tapered finger, R... OMIM:618975
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Ventricular septal defect, Abnormal dental morpholog... ORPHA:1458
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Stickler Syndrome, Type Ii
Depressed nasal bridge, Anteverted nares, Micrognathia, High, narrow palate, Pierre-Robin sequenc... OMIM:604841
Tetraamelia Syndrome 1
Renal agenesis, Congenital diaphragmatic hernia, Asplenia, Peripheral pulmonary vessel aplasia, C... OMIM:273395
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Renal hypoplasia, Patellar hypoplasia, Vesicoureteral reflux, Brachydactyly ORPHA:464288
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Frontoocular Syndrome
Atrial septal defect, Coronal craniosynostosis, Pectus excavatum, Pulmonic stenosis OMIM:605321
Classical Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Incisional hernia, Rectal prolapse, Gastroesophageal ... ORPHA:287
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis, Absent thumb OMIM:619239
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Wide nasal ... ORPHA:1352
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Poor wound heali... ORPHA:2072
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Anal stenosis, Broad hallux, Aganglionic megacolon, Shortening of all dista... OMIM:614749
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ... OMIM:601224
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Cleft palate, Choan... ORPHA:1790
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Patent ductus arteriosus, Vesicoureteral reflux, Short foot... ORPHA:250989
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... OMIM:611878
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Depressed nasal bridge, Pericardial effusion, Hepatosplenomegaly, Wide mouth, Abnor... OMIM:608776
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Recurrent respiratory infections, Hepatomegaly, Tented upper lip vermilion, ... OMIM:619383
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... OMIM:305620
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal dental morphology, Carious te... ORPHA:1716
Craniofacioskeletal Syndrome
Atrial septal defect, Absent gallbladder, Hypospadias, Ventricular septal defect, Patent ductus a... OMIM:300712
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... OMIM:615716
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615500
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss... OMIM:608612
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent duct... ORPHA:452
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Micrognathia, Knee flexion contracture, Widely spaced teeth, Camptod... OMIM:619694
Achondrogenesis Type 1A
Short palm, Femoral hernia, Anteverted nares, Micromelia, Micrognathia, Aplasia/Hypoplasia of the... ORPHA:93299
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Poor wound healing, Mi... ORPHA:536545
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Down-sloping shoulders, Renal hypoplasia OMIM:616817
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... ORPHA:363705
Cardiospondylocarpofacial Syndrome
Short palm, Brachydactyly, Mitral valve prolapse, Synostosis of carpal bones ORPHA:3238
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Viral hepat... ORPHA:91139
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Incr... OMIM:616564
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, Vesicoureteral reflux, Broa... ORPHA:353281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Macroglossia, Flexion contracture, Cardiomyopathy OMIM:613155
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Wide nasal bridge, Long philtrum, Short nose, Broad philtrum OMIM:618577
Achondrogenesis Type 1B
Femoral hernia, Anteverted nares, Micromelia, Micrognathia, Aplasia/Hypoplasia of the lungs, Shor... ORPHA:93298
Developmental And Epileptic Encephalopathy 89
Omphalocele, Thin upper lip vermilion, Microretrognathia, Anteverted nares, Depressed nasal bridg... OMIM:619124
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Arterial Tortuosity Syndrome
Redundant skin, Gastroesophageal reflux, Femoral hernia, Prematurely aged appearance, Hiatus hern... ORPHA:3342
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Le... ORPHA:2331
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Small hand, 2-3 toe syndactyly, Renal hypoplasia, Short foot, Renal tubul... ORPHA:37553
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Prominent... ORPHA:363528
Epidermolysis Bullosa Simplex 5A, Ogna Type
Skin fragility with non-scarring blistering, Bruising susceptibility OMIM:131950
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose OMIM:300581
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Normochromic anemia, Gast... OMIM:614857
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Micrognathia, Long nose, Carious teeth, Velopharyngeal insufficiency, ... OMIM:613680
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nose, Anophthalmia, Anteverted nares, Wide nasal bridge, Skin ulcer, Dry skin, Panniculitis,... ORPHA:2526
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Ventricular septal defect, Postaxial hand polydactyly, Opt... OMIM:615948
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Central Y-shaped metacarpal, F... OMIM:277170
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Ventricular septal defect, Micrognathia, Esophageal atresia, D... OMIM:610536
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Large hands ORPHA:85287
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the endocrine system, Esophageal atr... ORPHA:95706
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... ORPHA:46627
Chromosome 5Q12 Deletion Syndrome
Long toe, Ventricular septal defect, Long fingers, Patent ductus arteriosus, Increased nuchal tra... OMIM:615668
Warburg Micro Syndrome 1
Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Thin vermilion border, Narrow ... OMIM:600118
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Flexion contracture, Inguinal hernia OMIM:618379
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Short nose, Open mouth OMIM:300143
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Gastroesophageal reflux, Patent foramen ovale OMIM:617182
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... ORPHA:884
Coffin-Siris Syndrome 5
Sandal gap, Atrial septal defect, Arachnodactyly, Short distal phalanx of finger OMIM:616938
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Downturned corners of mouth... ORPHA:163649
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb ORPHA:2091
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyl... OMIM:603671
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult... OMIM:615508
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Coffin-Siris Syndrome 1
Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Prominent inter... OMIM:135900
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom... ORPHA:163979
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Recurren... ORPHA:500159
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
3Q29 Microduplication Syndrome
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft ... ORPHA:251038
Silver-Russell Syndrome 1
Syndactyly, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal phalanx of the 5... OMIM:180860
Facial Clefting, Oblique, 1
Microphthalmia, Cleft palate, Cleft upper lip OMIM:600251
Charge Syndrome
Anophthalmia, Gastroesophageal reflux, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cle... ORPHA:138
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Pyloric stenosis, Patent ductus arteriosus, Horseshoe kidney OMIM:218350
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Micrognathia, Cleft palate, Malar flattening, Short nose, Convex nasal ridge ORPHA:2145
Fibular Hemimelia
Anophthalmia, Short femur, Short toe, Fibular hypoplasia, Abnormal heart morphology, Proximal fem... ORPHA:93323
Cutis Marmorata Telangiectatica Congenita
Cutis marmorata, Telangiectasia of the skin, Micrognathia, Patent ductus arteriosus, Arterial ste... ORPHA:1556
Basel-Vanagaite-Smirin-Yosef Syndrome
Prominent nasal tip, Mandibular prognathia, Inguinal hernia, Tented upper lip vermilion, Exaggera... ORPHA:464738
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone ... ORPHA:1110
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:612650
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Kabuki Syndrome 2
Natal tooth, Broad nasal tip, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, Dep... OMIM:300867
Peters Plus Syndrome
Ureteral duplication, Micromelia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, C... ORPHA:709
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Micrognathia, Prominent nose OMIM:616171
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Splenomegaly, Renal hypoplasia, Nep... OMIM:617913
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Omphalocele, Intestinal malrotation, Hypoperistalsis, ... ORPHA:2241
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Thin upper lip vermilion, Micrognathia, Wide mouth, Short nose, Smooth philtrum OMIM:615419
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Pectus excavat... OMIM:618162
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Met... OMIM:271640
Temtamy Syndrome
Dental crowding, Micrognathia, Hypoplasia of teeth, Short 2nd toe, Long philtrum, Microphthalmia,... OMIM:218340
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... OMIM:269200
Spondyloocular Syndrome
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Lymphedema, Long fingers, ... OMIM:605822
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol... ORPHA:324636
Tarp Syndrome
Finger syndactyly, Extramedullary hematopoiesis, Single transverse palmar crease, Rocker bottom f... ORPHA:2886
Immunodeficiency 9
Ectodermal dysplasia, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelog... OMIM:612782
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Purpura OMIM:612336
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft palate, Gastro... ORPHA:457193
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:616481
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Short nose, Aplasia/Hypo... ORPHA:1914
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Cohen Syndrome
Short metacarpal, Thoracic scoliosis, Single transverse palmar crease, Tapered finger, Short meta... OMIM:216550
Lujo Hemorrhagic Fever
Excessive bleeding after a venipuncture, Myocarditis, Odynophagia, Atelectasis, Leukocytosis, Ful... ORPHA:319213
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Cardiomyopathy, Short philtrum, Prolonged neonatal jaundice,... OMIM:618437
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Hallux valgus, Secundum atrial septal defect, Long hallux, Pectus carinatum, Clinodac... OMIM:620194
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Short distal phalanx of finger, Ventricular septal defect, Opti... ORPHA:79345
Limb Body Wall Complex
Atrial septal defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones... ORPHA:2369
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Gastroesophageal r... OMIM:194050
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Large hands, Abnormal cardiac septum morphology,... OMIM:615009
Atelis Syndrome 2
Prominent nose, Diastema, Thrombocytopenia, Patent ductus arteriosus, Thick lower lip vermilion, ... OMIM:620185
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Atrial septal defect, Anteverted nares, Depressed... ORPHA:97360
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... OMIM:614300
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Purpura, Autoimmune thrombocytopenia OMIM:613496
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Pneumonia, Depressed nasal bridge, Recurrent upper respiratory tract infections... OMIM:614069
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Limited mobility of ... OMIM:222300
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia ORPHA:2717
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Gastroesophageal reflux, ... ORPHA:17
Kanzaki Disease
Telangiectasia of the oral mucosa, Depressed nasal bridge, Thick lower lip vermilion, Lip telangi... OMIM:609242
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Abnormal lung lobation, Renal hypoplasia ORPHA:1745
Microphthalmia With Linear Skin Defects Syndrome
Wide nose, Anophthalmia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micr... ORPHA:2556
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Abdom... OMIM:618699
Marfan Syndrome
Arachnodactyly, Bicuspid aortic valve, Protrusio acetabuli, Equinus calcaneus, Metatarsus adductu... OMIM:154700
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Dermal translucency, Dental crowding, Narrow nasal ridge, Underdeveloped nasal alae, Vascular dil... OMIM:618343
X Small Rings
Joint laxity, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Tapered finger, O... ORPHA:96201
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Decreased response to growth hormone stimulation test, Depressed nasal... OMIM:614114
Hemorrhagic Fever-Renal Syndrome
Petechiae, Pneumonia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Intracranial hemorr... ORPHA:340
Cockayne Syndrome Type 1
Mandibular prognathia, Hepatomegaly, Anophthalmia, Foot joint contracture, Scarring, Delayed erup... ORPHA:90321
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept... ORPHA:99095
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly OMIM:615982
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Dilation of Virchow-Robin spaces, Sandal gap, Rocker bottom foot, Single transvers... OMIM:619951
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Short nose, High palate, Micrognathia OMIM:615042
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Patent ductus arte... OMIM:617088
15Q14 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Abnormality of the dentition,... ORPHA:261190
Familial Aortic Dissection
Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Desc... ORPHA:229
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Split hand, Clubbing, Absent pu... OMIM:600460
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Inguinal hernia, Redundant neck skin, Ventricular septal defect, Hepato... OMIM:235255
Coffin-Siris Syndrome 6
High, narrow palate, Cleft palate, Gastroesophageal reflux, Atrial septal defect, Diaphragmatic e... OMIM:617808
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Short nose, Thic... OMIM:300558
Fanconi Anemia
Abnormal femur morphology, Leukopenia, Abnormality of the liver, High palate, Triphalangeal thumb... ORPHA:84
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc... OMIM:613490
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Atrial septal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Atrial septal... ORPHA:353277
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep philtrum... ORPHA:314655
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... OMIM:608647
Oculomaxillofacial Dysostosis
Median cleft lip, Underdeveloped nasal alae, Abnormality of the nose, Abnormality of the dentitio... ORPHA:1794
Macs Syndrome
Irregular dentition, Prolonged bleeding time, Dilation of Virchow-Robin spaces, Hypergonadotropic... OMIM:613075
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Hig... OMIM:608836
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplas... OMIM:616367
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Pneumonia, Respiratory tract infection, Myocarditis, Peritonitis, Increased... ORPHA:36234
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Abnor... ORPHA:494344
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Multiple suture craniosynost... ORPHA:3369
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol... ORPHA:449400
Lambotte Syndrome
Preaxial foot polydactyly, Ventricular septal defect OMIM:245552
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Patent ductus arteriosus, ... ORPHA:65286
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Redundant neck skin, Anteverted nares, Lipodystrophy, Redundant skin, Broad nasa... ORPHA:357074
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Prominent nasal bridge, Prominent nose, Carious teeth, Cryptorchidism,... OMIM:214150
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Mitral valve prolapse, Increased carrying angle, Brachydactyly OMIM:247410
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, High palate, Atrial septal defect, Patent foramen ovale, Bifid uvula,... OMIM:615582
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Lymphedema, Tapered finger, Pectus excavatum, Flattened epiphysis, Genu val... OMIM:607131
Tangier Disease
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... ORPHA:31150
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Abnormal renal morphology, High palate, Gastroesophageal reflux, Atria... OMIM:610883
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Open bite, Short toe, Abnormalit... ORPHA:1327
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Patent ductus arteriosus, Oligosacchariduria, Hepatosplenomegaly, Macroglossia, High palate, Tali... ORPHA:397709
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Anteverted nares, Pneumonia, Depressed nasal bridge, Malabsorption, Protruding tongue,... OMIM:242860
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Ventricular septal defect, Sagittal craniosynostosis, Polyhydramnios, Pect... OMIM:618027
Temtamy Preaxial Brachydactyly Syndrome
Short palm, Abnormal spaced incisors, Short hallux, Abnormality of the dentition, Abnormality of ... ORPHA:363417
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Prominent superficial veins, Short metacarpal, Depressed nasal bridge,... OMIM:612350
Harel-Yoon Syndrome
Mandibular prognathia, Hypertrophic cardiomyopathy, Short nose, Micrognathia OMIM:617183
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Microgn... OMIM:614080
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Campt... ORPHA:261330
Martsolf Syndrome 1
Short palm, Recurrent respiratory infections, Inguinal hernia, Short metacarpal, Hypogonadotropic... OMIM:212720
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... OMIM:258900
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Short ribs, Limb undergrowth,... OMIM:618961
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:614935
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Joint laxity, Hallux valgus, Ventricular septal defect, Patent ductus arteriosus, Abnormal left v... ORPHA:466791
Coffin-Siris Syndrome
Papillary thyroid carcinoma, Aspiration pneumonia, Hernia, Hepatoblastoma, Atrial septal defect, ... ORPHA:1465
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... OMIM:617666
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Oculodentodigital Dysplasia
Narrow nasal bridge, Atrial septal defect, Anteverted nares, Selective tooth agenesis, Narrow nos... OMIM:164200
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia, Low han... OMIM:619318
Zaki Syndrome
Toe syndactyly, Renal agenesis, Congenital diaphragmatic hernia, Long fingers, Patent ductus arte... OMIM:619648
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Abnorm... ORPHA:252164
Ehlers-Danlos Syndrome, Periodontal Type, 1
Alveolar bone loss around teeth, Prominent superficial veins, Inguinal hernia, Poor wound healing... OMIM:130080
Acrocephalopolydactyly
Limb undergrowth, Short nose, Depressed nasal ridge, Hepatosplenomegaly ORPHA:221054
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Anteverted nares, Proboscis, Cleft lip, Aortic valve... OMIM:619895
Igg4-Related Ophthalmic Disease
Palpebral edema, Eosinophilia, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbi... ORPHA:449563
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Baker-Gordon Syndrome
Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum OMIM:618218
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial n... OMIM:616629
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra... ORPHA:1278
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura OMIM:612304
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Atrial septal defect, Bicuspid aortic valve, Ventricul... ORPHA:453499
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Cleft soft p... OMIM:616331
Microphthalmia With Limb Anomalies
Macrodontia, Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Venous insuff... ORPHA:1106
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... ORPHA:1791
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Sandal gap, Abnormal heart valve morphology, Recurrent shoulder dislocation, Pectu... ORPHA:230851
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Bulbous nose, High palate, ... OMIM:614105
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Inguinal hernia, Redundant neck skin, Ventricular septal defect, Hepato... ORPHA:1655
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Decreased liver function, Elevated hepatic transaminase OMIM:615160
Filippi Syndrome
Finger syndactyly, Enlarged epiphyses, Ventricular septal defect, Limitation of joint mobility, O... ORPHA:3255
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Reticulocytosis, Pericarditis, Lymphopenia, Abnormal b... ORPHA:99826
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, A... ORPHA:2001
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Atrial septal defect, Decreased muscle mass, Facial hypotonia ORPHA:500533
Tetraploidy
Convex nasal ridge, Micrognathia, Cleft palate, Aplasia/Hypoplasia of the lungs, Short philtrum, ... ORPHA:3305
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Cervical ribs, Ventricular septal defect, Pectus carinatum OMIM:609654
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of fin... ORPHA:2021
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... OMIM:613443
Shigellosis
Pneumonia, Intestinal perforation, Myocarditis, Leukocytosis, Thrombocytopenia, Peritonitis, Ulce... ORPHA:810
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... OMIM:186500
Focal Dermal Hypoplasia
Anophthalmia, Cleft ala nasi, Congenital diaphragmatic hernia, Short metatarsal, Anteriorly place... OMIM:305600
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Aase-Smith Syndrome I
Slender finger, Flexion contracture, Ventricular septal defect, Talipes equinovarus OMIM:147800
Joubert Syndrome 14
Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Cleft palate, Intr... OMIM:614424
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hyp... ORPHA:88
Noonan Syndrome 13
Joint laxity, Overlapping toe, Tapered finger, Metatarsus adductus, Lymphedema, Mitral valve prol... OMIM:619087
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Patent foram... OMIM:620113
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia, Small hand, Short... OMIM:617450
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Subdural hemorrh... OMIM:202400
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Atrial septal defect, Sandal gap, Hypospadias, Ventricular septal ... ORPHA:254346
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Seckel Syndrome 9
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... OMIM:616777
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Ventric... ORPHA:505237
Femoral-Facial Syndrome
Short femur, Abnormal rib morphology, Rib fusion, Abnormal fibula morphology, Coxa vara, Radiouln... ORPHA:1988
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchid... OMIM:613457
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis, Abnormality of the urinary system, Postaxial polydactyly OMIM:213010
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Cardiomegaly, Deep philtrum, Sho... OMIM:613320
Fanconi Anemia, Complementation Group Q
Absent thumb, Esophageal atresia, Biliary atresia, Primum atrial septal defect, Anteriorly placed... OMIM:615272
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Tracheoesophageal fistu... ORPHA:268249
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Ventricular septal defect, Hypoplasia of teeth, Microphthalmia, Short nose, Ret... OMIM:234050
Acrodysostosis
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Antev... ORPHA:950
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
5Q14.3 Microdeletion Syndrome
Anteverted nares, Optic nerve hypoplasia, Short philtrum, Short nose, Open mouth ORPHA:228384
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose, Abnormally large globe OMIM:611936
Crimean-Congo Hemorrhagic Fever
Leukopenia, Cholecystitis, Ecchymosis, Internal hemorrhage, Hepatomegaly, Neutrophilia, Pericardi... ORPHA:99827
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Postaxial h... OMIM:607361
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Ch... OMIM:613808
Rin2 Syndrome
Irregular dentition, Hypergonadotropic hypogonadism, Redundant skin, Cryptorchidism, Gingival ove... ORPHA:217335
Noonan Syndrome 7
Pectus excavatum, Pectus carinatum, Shield chest, Deep palmar crease, Pulmonic stenosis, Atrial s... OMIM:613706
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... ORPHA:2831
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Micromelia, Micrognathia, Rhizomelia, Hypoplastic dista... ORPHA:93329
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Delayed puberty, Hyp... ORPHA:496790
Aarskog-Scott Syndrome
Bilateral cryptorchidism, Hypoplasia of the maxilla, Short palm, Anteverted nares, Elevated circu... OMIM:305400
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Overlapping toe, Ventricular septal defect, Down-sloping shoulders, Tapered finger, Flexion contr... OMIM:617452
Kury-Isidor Syndrome
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi... OMIM:619762
Orofaciodigital Syndrome Type 2
Micrognathia, Central retinal vessel vascular tortuosity, High palate, Short tibia, Atrioventricu... ORPHA:2751
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Abnormality of the ureter, Short fo... ORPHA:3409
Bohring-Opitz Syndrome
Syndactyly, Atrial septal defect, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the... OMIM:605039
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Ventricular septal defect, Unilateral renal agenesis OMIM:618504
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:614921
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Atrial septal defect, Ventricular septal defect, Rocker bottom foot, Patent ductus art... OMIM:612582
Noonan Syndrome 5
Polyhydramnios, Abnormal sternum morphology, Pulmonic stenosis, Atrial septal defect, Cubitus val... OMIM:611553
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Sh... OMIM:620250
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Widely spaced teeth, Hi... ORPHA:79500
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Sprengel anomaly, Ventricular septal d... OMIM:214300
Bamforth-Lazarus Syndrome
Retrognathia, Choanal atresia, Cleft palate ORPHA:1226
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Edema, Polyhydramnios, Flexion contracture, Increased susceptibility to fractur... OMIM:312150
17Q23.1Q23.2 Microdeletion Syndrome
Long toe, Atrial septal defect, Sandal gap, Long fingers, Patent ductus arteriosus, Limitation of... ORPHA:261279
Diphallia
Abnormality of the gastrointestinal tract, Ureteral duplication, Renal malrotation, Duplicated co... ORPHA:227
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valg... OMIM:620073
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Hypospadias, Congenital dia... OMIM:611812
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, High palate, Microphthalmia, Abnormality of the hypothalamus-pituit... ORPHA:139471
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange... OMIM:615550
Fanconi Anemia, Complementation Group S
Macrodontia, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Dental malocclu... OMIM:617883
Insulin-Like Growth Factor I, Resistance To
Sandal gap, Ventricular septal defect, Pectus excavatum, Small hand, Short foot, Abnormal rib cag... OMIM:270450
Monosomy 18P
Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Short ... ORPHA:1598
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Neoplasm of the adrenal cortex, Wide nose, Anteverted nares, Cutis marmorat... ORPHA:109
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Microphthalmia, Hepatic steatosis, Pancr... OMIM:618805
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Patent ductus arteriosus, Flexion contrac... OMIM:616866
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Inguinal hernia, Hypoplasia of the maxilla, Cryptorchidism,... OMIM:601499
Steinfeld Syndrome
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypopl... OMIM:184705
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... OMIM:175050
Cerebrooculofacioskeletal Syndrome 4
Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Bilateral microphthalmos, Elbow fl... OMIM:610758
Bartsocas-Papas Syndrome
Median cleft lip, Underdeveloped nasal alae, Micrognathia, Aplasia/Hypoplasia of the distal phala... ORPHA:1234
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Patent ductus arteriosus, Re... ORPHA:79076
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Ventricular septal defect, Polyhydramnios, Pectus excavatum... OMIM:610733
Moebius Syndrome
Decreased testicular size, Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Depres... OMIM:157900
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Small hand, Cleft palate, Tubulointerstitial nephritis, Enuresis, Camp... ORPHA:459061
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal lung ... ORPHA:818
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Ventricular septal defect, Abnormality of the dent... ORPHA:193
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ... OMIM:619167
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Atrial septal defect, Facial hypotonia OMIM:611087
Meckel Syndrome 12
Ureteral hypoplasia, Rocker bottom foot, Renal hypoplasia, Bilateral renal agenesis, Arthrogrypos... OMIM:616258
Hereditary Orotic Aciduria
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosu... ORPHA:30
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Atrial septal defect, Toe syndactyly, Hydroureter, Single transverse palmar crease, Proximal plac... OMIM:610759
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Pneumoth... OMIM:619879
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... OMIM:615156
Fg Syndrome Type 1
Limited elbow extension and supination, Finger syndactyly, Broad toe, Progressive flexion contrac... ORPHA:93932
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Micrognathia, Hypoplasia ... ORPHA:560
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi... ORPHA:60041
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... ORPHA:3078
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Anteverted nares, C... ORPHA:261236
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Anteverted nares, Open bite, Venous insufficiency, Abn... ORPHA:2969
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Micrognathia ORPHA:1514
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate OMIM:610125
Peters-Plus Syndrome
Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Proximal placement... OMIM:261540
Distal Deletion 10Q
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Functional abnormality of the blad... ORPHA:96148
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Micrognathia, High palate, Short philtrum, Microdontia, Abnormality of upper lip... ORPHA:251028
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Anteverted nares, Depressed nasal br... OMIM:147791
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,... ORPHA:90291
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Joint hemorrhage... ORPHA:465
Hartsfield Syndrome
Depressed nasal bridge, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius, Mi... ORPHA:2117
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... OMIM:612528
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-... OMIM:601812
Short Stature-Micrognathia Syndrome
Penoscrotal hypospadias, Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, M... OMIM:617164
Warsaw Breakage Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, High palate, Clin... OMIM:613398
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Hypoplastic ilia, Patellar aplasia, Knee flexion c... ORPHA:85201
Ogden Syndrome
Microretrognathia, Everted upper lip vermilion, Inguinal hernia, Ventricular septal defect, Under... ORPHA:276432
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Wide nose, Protruding tongue, Secundum atrial septal defect, Splenomegaly, Jaundice... OMIM:608779
Down Syndrome
Aganglionic megacolon, Depressed nasal bridge, Prematurely aged appearance, Protruding tongue, Ab... ORPHA:870
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy, Arthrogryposis multiple... OMIM:607598
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... ORPHA:177907
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Mic... ORPHA:2728
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Gastroes... OMIM:301040
Cone-Rod Dystrophy 16
Optic disc pallor, Postaxial polydactyly OMIM:614500
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Thick vermilion border, Long philtrum ORPHA:833
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Nanophthalmos
Microphthalmia ORPHA:35612
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Micrognathia, Downturned corners of mouth, Gastroesophageal reflux, Choanal stenosis, Atrial sept... OMIM:620186
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Fraser Syndrome
Anophthalmia, Dental crowding, Cleft ala nasi, Abnormal lung lobation, Orofacial cleft, High pala... ORPHA:2052
Dahlberg-Borer-Newcomer Syndrome
Lymphedema, Brachydactyly, Mitral valve prolapse, Short distal phalanx of finger ORPHA:1563
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Ectopic kidney,... ORPHA:3027
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Scapular winging, Hypospadias, Abnormal pulmonary valve morpholo... ORPHA:500
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Bicuspid aortic valve, Unilateral renal agenesis,... OMIM:614900
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill... ORPHA:306542
Walker-Warburg Syndrome
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula ORPHA:899
Toriello-Carey Syndrome
Aganglionic megacolon, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coar... ORPHA:3338
Teebi-Shaltout Syndrome
Ventricular septal defect, Broad nasal tip, Underdeveloped nasal alae, High, narrow palate, Wide ... OMIM:272950
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria,... ORPHA:1451
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate, Hernia, Wrist flex... OMIM:193700
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Recurrent respiratory infections, Micromelia, Abnormal cerebral vascular mo... ORPHA:2637
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... OMIM:616843
Complement Component 2 Deficiency
Purpura OMIM:217000
Macrocephaly/Autism Syndrome
Hepatomegaly, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Splenomegaly, Cutis laxa,... OMIM:605309
Seckel Syndrome 2
Micrognathia, Prominent nose, Microdontia, Microphthalmia, Microglossia OMIM:606744
Nephronophthisis 15
Elevated hepatic transaminase, Polydactyly, Nephronophthisis OMIM:614845
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Triphal... ORPHA:124
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Hy... OMIM:264090
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Pelvic kidney, Hydr... OMIM:613001
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... OMIM:619573
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Dilation of Virchow-Robin spaces, Unilateral renal hypoplasia OMIM:619955
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bifid nasal tip, Unilateral microphthalmos, Bilateral cleft lip and pal... OMIM:618874
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Abnor... ORPHA:264450
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Intestinal obstruction, Pericardit... ORPHA:900
Caudal Duplication
Omphalocele, Cryptorchidism, Intestinal duplication ORPHA:1756
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Micromelia, Flexion c... OMIM:610015
Congenital Contractural Arachnodactyly
Arachnodactyly, Camptodactyly of finger, Joint stiffness, Flexion contracture, Mitral valve prola... ORPHA:115
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... ORPHA:1540
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Edema, Polyhydramnios, Flexion contracture, Increased susceptibility to fractur... OMIM:253290
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Inguinal hernia, Redundant skin, Narrow nasal ridge, Bulbous nose, L... OMIM:612940
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve... ORPHA:324410
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... OMIM:616307
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Hyposp... OMIM:300998
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Gastroesophag... OMIM:619909
Weill-Marchesani Syndrome 1
Thin bony cortex, Ventricular septal defect, Joint stiffness, Patent ductus arteriosus, Broad pal... OMIM:277600
Dohle Bodies And Leukemia
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Absent nares, Narrow mouth, Mandib... ORPHA:990
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Depressed nasal ridge, Hypoplasia of the calcaneus, Microphthalmia,... OMIM:300863
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Cleft palate, Right aortic a... ORPHA:513456
Van Maldergem Syndrome 1
Short fourth metatarsal, Hypospadias, Renal hypoplasia, Anteriorly placed anus, Cutaneous finger ... OMIM:601390
Seckel Syndrome 5
11 pairs of ribs, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cleft palate, O... OMIM:613823
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-... OMIM:619471
Koolen-De Vries Syndrome
Atrial septal defect, Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular sept... OMIM:610443
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte mor... ORPHA:565612
Chromosome 18Q Deletion Syndrome
Joint laxity, Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal placement of thumb, A... OMIM:601808
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Postaxial polydactyly, Tapered finger, Patent ductus arteriosus... OMIM:300968
Trisomy 4P
Preaxial hand polydactyly, Radial club hand, Camptodactyly of finger ORPHA:1738
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Cardiofaciocutaneous Syndrome 2
Peripheral axonal neuropathy, Mitral valve prolapse OMIM:615278
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Axonal degeneration, Abnormal sensory nerve conduction velocity, Camptodactyly, Ab... ORPHA:88628
C Syndrome
Omphalocele, Anteverted nares, Depressed nasal bridge, Accessory oral frenulum, Congenital diaphr... ORPHA:1308
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Micrognathia, Wide nasal bridge, Thin vermilion border, Long philtrum, Mic... ORPHA:1438
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... ORPHA:1553
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Joint hypermobility, Joint stiffness, Short long bone, Short palm, Atrial septa... OMIM:619184
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Maternal diabetes, Cardiomegaly, Secu... OMIM:300855
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Bronchiectasis, High palate,... OMIM:618282
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Arachnodactyly, Pectus excavatum, Limitation of joint mobility, Osteoporosis, Mitral valve prolap... OMIM:236200
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Single transverse palmar crease, Lymphedema, Generalized... ORPHA:536471
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... OMIM:313900
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Redundant skin, Micrognathia, High, narrow palate, ... OMIM:612289
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Thin vermilion border, Long philtrum, ... ORPHA:85194
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent upper respiratory tract inf... OMIM:614868
Chikungunya
Abnormal bleeding, Epistaxis, Cervical lymphadenopathy, Erythema, Enthesitis, Lymphadenopathy, Gi... ORPHA:324625
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Exaggerated cupid's bow, Depressed nasal bridge, Supernumerary nipple, Cleft lip, Deep philtrum, ... OMIM:620098
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Cleft p... OMIM:602418
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple,... ORPHA:457279
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Micrognathia, Atrial septal defect, Microdontia, Bifid uvula, Antever... OMIM:613458
Noonan Syndrome 14
Scapular winging, Polyhydramnios, Pectus excavatum, Mitral valve prolapse, Pectus carinatum, Hype... OMIM:619745
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare... OMIM:224300
7Q31 Microdeletion Syndrome
Atrial septal defect, Recurrent respiratory infections, Skeletal muscle atrophy, Torticollis, Pat... ORPHA:251061
Oculodentodigital Dysplasia
Abnormal clavicle morphology, Clinodactyly of the 5th finger, Finger syndactyly, Short hallux, Ap... ORPHA:2710
Nance-Horan Syndrome
Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Prominent nose, Abnormality of t... ORPHA:627
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Malformation of the hepatic duct... OMIM:614175
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Polyhydramnios, Oligohydramnios OMIM:615476
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Plethora, Adrenal hyperplasia, Neoplasm of the stomach, ... ORPHA:99889
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... OMIM:614207
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Pituitary adenoma, Increased circulating ACTH level, Facial erythema, Ecchymo... OMIM:219090
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Polyhydramnios, Edem... OMIM:200610
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Micrognathia, Cryptorchidism, Short toe, Flexion contracture, Wide nasal bridg... ORPHA:98791
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Supernumerary nipple, Micro... OMIM:613884
Kagami-Ogata Syndrome
Omphalocele, Pursed lips, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Diastasis re... ORPHA:254519
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Short metacarpal, Depressed nasal bridge, Abnorm... ORPHA:439822
Tatton-Brown-Rahman Syndrome
Short toe, Patent ductus arteriosus, Widely spaced toes, Atrial septal defect, Umbilical hernia, ... ORPHA:404443
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... OMIM:615866
2Q31.1 Microdeletion Syndrome
Short palm, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Cr... ORPHA:251014
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hypertrophy of the urinary bladder, High palate, Gastroesophageal reflux, Atrial septal defect, R... ORPHA:280633
Brucellosis
Liver abscess, Bronchitis, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Lymp... ORPHA:1304
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Lymphadenitis, Sterile pyur... ORPHA:449395
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge ORPHA:2835
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short palm, Thin upper lip vermilion, Depressed nasal bridge, Decreased response to growth hormon... OMIM:241410
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Prolonged bleeding time, Odontodysplasia, Selective toot... ORPHA:49042
Refsum Disease
Short metacarpal, Splenomegaly, Anosmia, Cardiomyopathy, Microphthalmia, Dry skin ORPHA:773
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... OMIM:619854
Iga Nephropathy, Susceptibility To, 1
Purpura OMIM:161950
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hyd... OMIM:620327
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Arterial tortu... OMIM:609192
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Micrognathia, Retrognathia, Short nose, Meckel diverticulum ORPHA:163961
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... OMIM:207410
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Wide nose, Micrognathia, Hypothyroidism, Abnormal lung lobation, Depressed ... ORPHA:1052
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Arachnodactyly, Craniosynostosis, Metatarsus adductus, Lateral clavicle... OMIM:182212
Van Maldergem Syndrome 2
Short fourth metatarsal, Ulnar deviation of the hand, Hypospadias, Renal hypoplasia, Micropenis, ... OMIM:615546
Shprintzen-Goldberg Syndrome
Osteopenia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, ... ORPHA:2462
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Underdevelo... ORPHA:264200
Cushing Disease
Plethora, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Ecchymosis, Flushing, Poor w... ORPHA:96253
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Striae distensae, Telangiectasia of... ORPHA:758
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Redundant skin, Congenital diaphragmatic hernia, Cardiomegaly, Hepatoblast... ORPHA:116
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Anteverted nares, Protrudin... OMIM:610253
Castleman Disease
Abnormality of the gastrointestinal tract, Renal insufficiency, Generalized lymphadenopathy, Inte... ORPHA:160
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil coun... ORPHA:3226
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia OMIM:274265
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis, Tricuspid valve prolapse, Aortic valve stenosis ORPHA:2396
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint laxity, Atrial septal defect, Arachnodactyly, Mitral valve prolapse, Pectus carinatum, Prom... OMIM:300986
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Clubbing, ... OMIM:175200
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, 3-4 finger cut... OMIM:181270
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syndactyly, Facial diplegia, ... OMIM:619121
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Oligohydramnios OMIM:615397
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Orchitis, Angioedema, Vasculitis, Erythema, Skin ulcer, Urticaria, G... ORPHA:761
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia ORPHA:721
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cutaneous photosensitivity OMIM:278780
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Hypoplastic pubic ramus, Abnormal heart valve morphology, Arach... ORPHA:280
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Sagittal craniosynostosis, Atrial septal defec... OMIM:615879
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa... OMIM:617102
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Depressed nasal bridge, Hurthle cell thyroid adenoma, Multiple lipomas, Thy... ORPHA:210548
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Tibial bowing, Long hallux, Multicystic kidney dysplasia, Varicose veins, ... ORPHA:500095
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia, Retrognathia OMIM:614583
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Pectus carinatum, Arachnodactyly, ... ORPHA:536467
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anteverted nares, Anterior pituitary hypoplasia, Red... OMIM:613038
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Adrenal hypoplasia, Precocious atherosclerosis, Mitral valve prolaps... ORPHA:230839
Joubert Syndrome 3
Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Johnson Neuroectodermal Syndrome
Choanal atresia, Carious teeth, Bulbous nose, Anosmia, Cleft palate, Hypogonadism, Everted lower ... ORPHA:2316
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Wide nose, Diabetes mellitus, Anteverted nares, Dorsocervical fat pad, ... ORPHA:391408
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upper lip, Cutis ma... OMIM:100300
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Myocarditis, Atelectasis, Erythema, Hepatitis, Lar... ORPHA:728
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Leukopenia, Atrial septal defect, Patent foramen ovale, Patent ductus arteri... ORPHA:505248
Gabriele-De Vries Syndrome
Hallux valgus, Sydney crease, Sandal gap, Craniosynostosis, Ebstein anomaly of the tricuspid valv... ORPHA:506358
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Prominent nose, Micrognathia, Microphthalmia, Cutaneous photosensitivity... OMIM:610756
Chromosome 17Q12 Deletion Syndrome
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... OMIM:614527
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty... OMIM:620072
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Malar prominence, Micrognathia, Microphth... ORPHA:48431
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... OMIM:137920
Classical-Like Ehlers-Danlos Syndrome Type 2
Widened atrophic scar, Redundant skin, Micrognathia, Prominent veins on trunk, High palate, Perio... ORPHA:536532
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Mit... ORPHA:251066
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Thoracic kyphoscoliosis, Peripheral axonal neuropathy, Thoracic scoliosis, Pectus exc... ORPHA:1900
Pfeiffer Syndrome
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Depressed nasal bridge,... OMIM:101600
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Ventricula... ORPHA:464306
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, D... OMIM:615398
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Renal c... ORPHA:166035
Ohdo Syndrome, X-Linked
Inguinal hernia, Depressed nasal bridge, Hiatus hernia, Prominent nose, Cryptorchidism, Bulbous n... OMIM:300895
Ablepharon Macrostomia Syndrome
Omphalocele, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Underdeveloped na... ORPHA:920
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Single transverse palmar crease, Flexion contracture, Abnormal medulla... ORPHA:79243
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Shashi-Pena Syndrome
Short metacarpal, Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Patent ductus arte... OMIM:617190
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Clubbing, Intraalveolar phospholipid accumulation, Absent ... OMIM:265120
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Short ribs, Malar flattening, Short nose OMIM:614524
Acro-Renal-Ocular Syndrome
Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall... ORPHA:959
Costello Syndrome
Ventricular septal defect, Polyhydramnios, Ulnar deviation of finger, Mitral valve prolapse, Join... ORPHA:3071
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Short distal phalanx of finger OMIM:302950
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Diastasis recti, Rhizomelia, Short proximal pha... OMIM:616638
Mogs-Cdg
Absent brainstem auditory responses, Thoracic scoliosis, Pulmonary edema, Edema, Cardiomegaly, Po... ORPHA:79330
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect, Hypoplasia of facial mus... OMIM:164210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conic... OMIM:106260
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Poor wound healing, Increased connective tissue, Hiatus hernia, Mitral... OMIM:606408
Familial Visceral Myopathy
Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Cleft palate, Abdominal situs inv... ORPHA:2604
Neurocardiofaciodigital Syndrome
Syndactyly, Atrial septal defect, Patent ductus arteriosus, Double inlet left ventricle, Polydact... OMIM:619869
Poikiloderma With Neutropenia
Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Recurrent bronchopulmonary infe... OMIM:604173
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Pancytopenia, Renal hypoplasia, Renal dysplasia ORPHA:85321
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Congenital Varicella Syndrome
Atypical scarring of skin, Microphthalmia, Micromelia ORPHA:291
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglo... ORPHA:261144
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Mitral va... OMIM:166200
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Renal hypoplasia, Tubuloin... OMIM:617595
Orofaciodigital Syndrome Viii
Syndactyly, Cleft palate, High palate, Polydactyly, Short tibia, Recurrent aspiration pneumonia OMIM:300484
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... ORPHA:3472
Orofaciodigital Syndrome I
Syndactyly, Proteinuria, Hepatic cysts, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Abno... OMIM:311200
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Splenomegal... ORPHA:354
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Anteverted nares, Thick lower lip vermilion, Wide nasal bridge, Wide mo... ORPHA:1942
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Ventricular septal ... ORPHA:26793
Aredyld Syndrome
Hepatomegaly, Splenomegaly, Abnormality of the ureter, Abnormal pelvic girdle bone morphology, Br... ORPHA:1133
Jacobsen Syndrome
Broad columella, Abnormality of the anus, Anteverted nares, Cryptorchidism, Short toe, Wide nasal... ORPHA:2308
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
You-Hoover-Fong Syndrome
Cleft palate, Coarctation of aorta, Vascular ring, Clinodactyly, Double aortic arch, Brachydactyly OMIM:616954
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Poor wound h... ORPHA:169802
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnormal me... ORPHA:2075
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Gingival overgrowth, Wide nasal b... OMIM:619179
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve OMIM:608980
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Gastrointestinal an... ORPHA:99147
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Arachnodactyly, Ventricular septal defect, Flexion contr... OMIM:309520
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Recurren... OMIM:617751
Nanophthalmos 4
Microphthalmia OMIM:615972
Opitz Gbbb Syndrome
Thin upper lip vermilion, Abnormal nasopharynx morphology, Inguinal hernia, Ventricular septal de... OMIM:300000
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Symphalangism affecting the phalanges of ... ORPHA:1292
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal dental enamel morphology, Decreased response to growth ... ORPHA:1896
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Secundum atrial septal defect, Contracture of the proximal interphalangeal joint of ... OMIM:618109
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Malabsorption... ORPHA:912
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Cle... ORPHA:52055
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Anteverted nares, De... OMIM:244450
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Prominent nasal bridge, Narrow nasal ridge, Pro... OMIM:616914
Cerebrocostomandibular Syndrome
Rib gap, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal stippl... OMIM:117650
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral micropht... OMIM:607597
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, 2... OMIM:620025
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Single transverse palmar crease, Hyposegmentation of neutrophil nuclei, Cli... OMIM:620075
X-Linked Ehlers-Danlos Syndrome
Inguinal hernia, Gastroesophageal reflux, Hernia, Umbilical hernia, Bruising susceptibility ORPHA:75497
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Broad ... OMIM:152950
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Underdeveloped nasal alae, Long nose, Micrognathia, H... OMIM:257850
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Cap Myopathy
Pectus excavatum, Thoracic scoliosis, Facial palsy, Mitral valve prolapse ORPHA:171881
Snijders Blok-Campeau Syndrome
Joint laxity, Perimembranous ventricular septal defect, Pulmonic stenosis, Atrial septal defect, ... OMIM:618205
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa... ORPHA:1358
Koolen-De Vries Syndrome
Ureteral duplication, Arachnodactyly, Hypospadias, Bicuspid aortic valve, High, narrow palate, Py... ORPHA:96169
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Single transverse palmar crease, Ventricular septal defect, Congen... OMIM:309801
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatars... OMIM:614613
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Epistaxis, Decreased mean platelet volume OMIM:273900
Bardet-Biedl Syndrome 1
Syndactyly, Aganglionic megacolon, Abnormality of the kidney, Postaxial polydactyly, High, narrow... OMIM:209900
Distal Deletion 3P
Anteverted nares, Micrognathia, Cleft palate, Downturned corners of mouth, Thin vermilion border,... ORPHA:1620
Moderate Hemophilia A
Gastrointestinal hemorrhage, Hip contracture, Epidural hemorrhage, Abnormal bleeding, Intraventri... ORPHA:169805
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Anemic pallor, Absent thumb, Absent radius, Cryptor... OMIM:600901
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, Functional abnormality of the bladder, T... ORPHA:391487
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dela... ORPHA:819
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... OMIM:618775
Coffin-Siris Syndrome 4
Short philtrum, Atrial septal defect, Pulmonary artery atresia, Thick nasal alae, Depressed nasal... OMIM:614609
Wiedemann-Steiner Syndrome
Atrial septal defect, Tapered finger, Contracture of the distal interphalangeal joint of the fing... OMIM:605130
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Edema, Polyhydramnios, Patent ductus arterios... OMIM:607143
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Anteverted nares, Lipodystrophy, Redundant skin, Carious teeth, Narrow mouth, Cu... OMIM:219200
Omodysplasia 1
Short humerus, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Micrognathia, Crypt... OMIM:258315
Joubert Syndrome 37
Hepatomegaly, Wide nose, Anteverted nares, Cryptorchidism, Wide nasal bridge, High palate, Microp... OMIM:619185
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Aplasia/Hypoplasia involving the nose, Micrognathia, Missing ribs, Cryptor... ORPHA:3301
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Renal hypoplasia, Tra... OMIM:614083
Waardenburg Syndrome Type 1
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underd... ORPHA:894
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Short nose,... OMIM:618828
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular oss... OMIM:109400
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose OMIM:618774
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Cleft palate, ... OMIM:257300
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Mitral valve ... ORPHA:90354
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
De Barsy Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Congenital hip dislocation, Ventricula... ORPHA:2962
Frontonasal Dysplasia 3
Microphthalmia, Wide nasal bridge, Cleft palate, Underdeveloped nasal alae OMIM:613456
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Inguinal hernia, Poor wound healing, Atrial septal defect, Bruising susceptibility, Dermal transl... OMIM:619115
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Tented upper lip vermilion, Short philtrum ORPHA:85277
Classic Multiminicore Myopathy
Hip dysplasia, Multiple joint contractures, Mitral valve prolapse, Right ventricular hypertrophy ORPHA:324604
Nicolaides-Baraitser Syndrome
Short lingual frenulum, High, narrow palate, Short metatarsal, Widely spaced teeth, Short metacar... OMIM:601358
Stickler Syndrome, Type I
Arachnodactyly, Joint stiffness, Pectus excavatum, Osteoarthritis, Irregular femoral epiphysis, M... OMIM:108300
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flattening, Short nos... OMIM:616420
Monosomy 13Q34
Postaxial hand polydactyly, Fetal pyelectasis, Postaxial foot polydactyly, Hematochezia, Pulmonic... ORPHA:96168
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Hypospadias, Ventricular septal defect, Increased mean platelet vo... OMIM:222470
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Peroxisome Biogenesis Disorder 1A (Zellweger)
Single transverse palmar crease, High, narrow palate, Aminoaciduria, High palate, Ulnar deviation... OMIM:214100
Tetrasomy 18P
Narrow mouth, Short nose, Thin vermilion border, Long philtrum ORPHA:3307
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Depressed nasal bridge, Esophageal atre... OMIM:301030
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Hip contracture, Vertebral fusion, Ventricular septal defect, Elbow contract... OMIM:178110
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia OMIM:617914
Adams-Oliver Syndrome 2
Depressed nasal bridge, Cutis marmorata, Micrognathia, Bulbous nose, Short middle phalanx of fing... OMIM:614219
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Pericardial effusion, High palate, Campto... OMIM:617822
Al Kaissi Syndrome
Torticollis, High, narrow palate, Small hand, Deep palmar crease, Atrial septal defect, Clinodactyly OMIM:617694
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Mitral valve ... OMIM:104350
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Peripheral axonal neuropathy, Atrial septal ... OMIM:115150
Chromosome 8Q21.11 Deletion Syndrome
Lozenge-shaped umbilicus, Short metacarpal, Exaggerated cupid's bow, Underdeveloped nasal alae, M... OMIM:614230
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Mitral valve prolapse, Joint h... ORPHA:555877
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Inguinal hernia, Spontaneous neonatal pneumothorax, Frontal open bite, Redundant skin, Micrognath... OMIM:225410
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Microretrognathia, Abnormality of the dentition, Carious teeth, Small hand, Toot... ORPHA:1786
Fanconi Anemia, Complementation Group N
Aplastic anemia, Short thumb, Nephroblastoma, Ventricular septal defect OMIM:610832
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Anemic pallor, Absent th... OMIM:227645
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Dilation of Virchow-Robin... OMIM:619720
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Cerebellofaciodental Syndrome
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Shortening of all dis... OMIM:616202
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Hernia, Partial... ORPHA:955
Microcephaly-Micromelia Syndrome
Wide nose, Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Missing ribs, Clef... OMIM:251230
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... ORPHA:70
Trichothiodystrophy 3, Photosensitive
Natal tooth, Lymphopenia, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Cutaneous ph... OMIM:616395
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Bruising susceptibility, Ascending aortic dissection, Bronchiectasis OMIM:620080
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Foot oligodactyly, Triphalangea... OMIM:154400
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Abnormalit... OMIM:612394
Congenital Tricuspid Stenosis
Carcinoid tumor, Tricuspid stenosis, Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Meester-Loeys Syndrome
Striae distensae, Poor wound healing, Gingival overgrowth, Mitral valve prolapse, Ascending tubul... OMIM:300989
Distal Deletion 6P
Wide nose, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Abnormality of th... ORPHA:96125
Fanconi Anemia, Complementation Group A
Pancytopenia, Hypergonadotropic hypogonadism, Anemic pallor, Absent thumb, Absent radius, Cryptor... OMIM:227650
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... OMIM:615986
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Micrognathia, Anteriorly placed anus, Premature graying of hair, High pala... OMIM:268400
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Cutis marmorata, Epistaxis, Peritonitis, Va... ORPHA:727
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Pericardial effusion, Hypersplenism, Thrombocytopenia, Splenomegaly, ... ORPHA:77259
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Facial hypotonia, Long fingers, Di... OMIM:617557
Brittle Cornea Syndrome 1
Joint laxity, Mitral valve prolapse, Congenital hip dislocation, Palmoplantar cutis laxa OMIM:229200
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Thin upper lip vermilion, Prominent nose, Micrognathia, Bulbous nose, Depr... OMIM:156200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Single transverse palmar crease, Renal cyst, High palate, Atrial septal defect, Intrahepatic bili... OMIM:614866
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Mo... OMIM:613309
Toluene Embryopathy
Micrognathia, Thin vermilion border, Hypoplasia of the zygomatic bone, Short nose, Smooth philtrum ORPHA:1920
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ... ORPHA:217346
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Polyhydramnios, Thoracolumbar kyphosis, Narrow greater sciatic notch, Sho... ORPHA:508533
Tetrasomy 5P
Recurrent respiratory infections, Pericallosal lipoma, Redundant neck skin, Anteverted nares, Cya... ORPHA:3309
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Conical tooth, Cryptorchi... ORPHA:228390
Hallermann-Streiff Syndrome
Natal tooth, Choanal atresia, Malar flattening, Abnormality of the dentition, Underdeveloped nasa... ORPHA:2108
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Anteverted nares, Depressed nasal bridge, Aplastic clavicle, Protr... ORPHA:50945
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... OMIM:610978
Larsen Syndrome
Joint laxity, Vertebral fusion, Short metacarpal, Atrial septal defect, Ventricular septal defect... OMIM:150250
Combined Oxidative Phosphorylation Deficiency 25
Anteverted nares, Depressed nasal bridge, Intraventricular hemorrhage, Wide nasal bridge, Aspirat... OMIM:616430
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Dysphagia, Recurren... OMIM:617802
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Cleft palate, Cleft upper lip OMIM:614402
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, ... OMIM:616176
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation, Upper limb undergrowth, Re... ORPHA:369837
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... ORPHA:1876
Distal Deletion 12Q
Single transverse palmar crease, Ectopic kidney, High, narrow palate, Biliary atresia, Aplasia/Hy... ORPHA:96149
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Bronchitis, Xerostomia, Leukopenia, Vasculitis, Bili... ORPHA:289390
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithel... ORPHA:49041
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:615485
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, A... OMIM:601803
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, High palate, Type 1 muscle... OMIM:619542
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Hypoplasia of the maxilla, Flexion contracture, Wide nasal bridge, H... OMIM:218000
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Joubert Syndrome 39
Hypoplastic left heart, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxi... OMIM:619562
Gaucher Disease, Type Ii
Hepatomegaly, Double aortic arch, Thrombocytopenia, Splenomegaly, Gastroesophageal reflux, Dyspha... OMIM:230900
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly, Abnormal neuron morphology ORPHA:163681
Lateral Meningocele Syndrome
Inguinal hernia, Dental crowding, Bicuspid aortic valve, Ventricular septal defect, Micrognathia,... OMIM:130720
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, B... ORPHA:227990
Branchiooculofacial Syndrome
Anophthalmia, Micrognathia, Premature graying of hair, Gastroesophageal reflux, Ectopic thymus ti... OMIM:113620
Peho Syndrome
Short nose, Tented upper lip vermilion, Retrognathia, Open mouth OMIM:260565
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukocytosi... OMIM:615673
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing OMIM:262800
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Patent ductus arteriosus, Xerostomia, Aplasia of the abd... OMIM:100100
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Metatarsus adductus, Patent ductus arteriosus, Upper eyelid ... ORPHA:293939
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nipple,... ORPHA:1812
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Prominent nose, Long nose, Micrognathia, Bulbous nose, Submucous cleft... ORPHA:3047
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Absent nasal bridg... ORPHA:261211
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... ORPHA:42775
Trisomy 10P
Absent gallbladder, Anteverted nares, Depressed nasal bridge, Abnormality of the nose, Micrognath... ORPHA:171929
8Q21.11 Microdeletion Syndrome
Wide nose, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition, Underd... ORPHA:284160
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Shor... OMIM:617137
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Striae distensae, Dental crowding, Narrow nose, Hiatus hernia, Microg... OMIM:619329
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Abnormal morphology of ulna, Lymphedema, Pectus excavatum, Hydro... ORPHA:1340
Gapo Syndrome
Prominent scalp veins, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Redundant skin, Mi... OMIM:230740
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Pericarditis, Fasciitis, Orchitis, Recurrent pharyngitis, Leukocytosis, V... ORPHA:32960
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxil... ORPHA:245
Ctcf-Related Neurodevelopmental Disorder
Short philtrum, Gastroesophageal reflux, Joint contracture of the 5th finger, Atrial septal defec... ORPHA:363611
Feingold Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality of the spleen, Esophageal atr... ORPHA:1305
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morphology,... ORPHA:1295
Joubert Syndrome 21
Anophthalmia, Splenomegaly, Single naris, Pulmonary hypoplasia, Short ribs, Dysphagia, Chronic si... OMIM:615636
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Micrognathia, Cryptorchidism, Cleft palate, Umbilical hernia, Long philtrum, Mic... ORPHA:2505
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Congenital diaphrag... OMIM:200980
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Cleft lip, Patent duc... OMIM:616975
Pallister-Hall Syndrome
Ectopic kidney, Abnormal lung lobation, Atrial septal defect, Micropenis, Atrioventricular canal ... ORPHA:672
Rauch-Steindl Syndrome
Hepatomegaly, Bilateral renal hypoplasia, Clinodactyly of the 5th finger, Hyperechogenic kidneys,... OMIM:619695
Pterygium Colli, Isolated
Short nose OMIM:177990
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi... OMIM:617865
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Esophageal atresia, Trac... OMIM:619859
Fanconi Anemia, Complementation Group D2
Anemic pallor, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Esophageal atresia,... OMIM:227646
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Joint stiffness, Broad metatarsal, Patent ductus art... OMIM:608328
19P13.3 Microduplication Syndrome
Ventricular septal defect, Long fingers, Hip dislocation, Cleft palate, Hip dysplasia, Gastroesop... ORPHA:447980
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... ORPHA:199302
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Renal malrotation, Transient neutropenia, Ventricular septal defect, Bowing of t... OMIM:617107
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Abnormally large globe, Microgna... OMIM:300749
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Ureteral duplication, Renal agenesis, Absent thumb, Absent radius, Ectopic k... OMIM:602200
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Eosinophilia, Abnormality of the den... ORPHA:2314
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brachydactyly OMIM:613819
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Ventricular septal defect, Broad femoral neck, Optic neuropathy, Optic atr... OMIM:619727
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Micrognathia, Small hand, Bilateral cleft lip and palate, Microphthalmia OMIM:619339
Bladder Exstrophy
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Gastroesophageal reflux, Talipes equinovarus, Dysphagia, Arthrogryposi... OMIM:614961
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, B... ORPHA:227982
Orofaciodigital Syndrome X
Depressed nasal bridge, Hand oligodactyly, Cleft palate, Retrognathia, Fibular aplasia OMIM:165590
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, N... OMIM:304120
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Hig... OMIM:309800
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Bicuspid aortic valve, Metatarsus adductus, Patent ductus arteriosus, Prema... OMIM:611962
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Increased density of long bones, Single transverse palmar crease, Hypospadias,... OMIM:269150
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Gas... ORPHA:48435
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Inguinal hernia, Anteverted nares, Decreased response to growth hormone stimulation te... OMIM:213980
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, Recurrent respiratory infections, Hepatomegaly, Micrognathia, Deep phil... ORPHA:329178
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Syndromic 13
Microphthalmia, Widely-spaced incisors OMIM:300915
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Malar flattening, Micrognathia, Absent frontal sinuses,... OMIM:154780
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Malabsorption, Flexion contracture, Absence of subcutaneous fat, Retrogna... OMIM:601675
Ruvalcaba Syndrome
Inguinal hernia, Short metacarpal, Dental crowding, Micromelia, Cryptorchidism, Narrow mouth, Sma... ORPHA:3121
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... OMIM:615474
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria OMIM:616901
Rhombencephalosynapsis
Microretrognathia, Septo-optic dysplasia, Anteverted nares, Aganglionic megacolon, Esophageal atr... ORPHA:59315
Scleromyxedema
Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi... ORPHA:167635
Joubert Syndrome
Encephalocele, Aganglionic megacolon, Situs inversus totalis, Hand polydactyly, Foot polydactyly ORPHA:475
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Short nose, Retrognath... ORPHA:561
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Papilledema, Abnormal mitral valve morphology, Abnormal heart valve ... ORPHA:580
Aneurysm-Osteoarthritis Syndrome
High palate, Bifid uvula, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arteriosu... ORPHA:284984
Schinzel-Giedion Syndrome
Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Hepatoblastoma, Myeloid leukemia,... ORPHA:798
Grange Syndrome
Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis OMIM:602531
Fetal Hydantoin Syndrome
Cryptorchidism, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Her... ORPHA:1912
Fragile X Syndrome
Joint laxity, Mitral valve prolapse ORPHA:908
Warburg Micro Syndrome 3
Micrognathia, Flexion contracture, Narrow palate, Downturned corners of mouth, Microphthalmia, Sh... OMIM:614222
Micro Syndrome
Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, High palate, Short philtrum, D... ORPHA:2510
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Ventricular septal defect, Redundant skin, Poor wound healing, Progeroid facial ... OMIM:123700
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Howell-Joll... ORPHA:85443
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Diastasis recti, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger ORPHA:231140
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymp... OMIM:607944
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Abnormal acetabulum morphology, Long clavicles, Postaxial polydactyly, R... ORPHA:397715
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect, Clinodactyly, Spi... OMIM:617360
Cat-Eye Syndrome
Microphthalmia, Anal atresia ORPHA:195
Primary Release Disorder Of Platelets
Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia OMIM:176630
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Hip dislocation, Renal hypoplasia, Fibular hypoplasi... OMIM:619297
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Orofacial cleft ORPHA:324416
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Meier-Gorlin Syndrome 6
Microretrognathia, Recurrent respiratory infections, Anteverted nares, Decreased response to grow... OMIM:616835
Mohr Syndrome
Syndactyly, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalu... OMIM:252100
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Short hallux, Small hand, Cleft ... ORPHA:93259
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Thin vermilion border, High palate, Malar flattening, Short nose, Smooth philtrum OMIM:601853
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Cholestasis, Lymphadenopathy, Scaling skin, ... ORPHA:293173
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Recurrent respiratory infections, Hypospadias, Ventricular septal defect, R... ORPHA:209905
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,... OMIM:250410
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Laubry-Pezzi Syndrome
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... ORPHA:99094
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelv... ORPHA:93271
Intellectual Developmental Disorder, Autosomal Dominant 47
Joint laxity, Increased nuchal translucency, Ventricular septal defect OMIM:617635
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Purpura, Oral ulcer, Granulomatosis, Arteritis, Abnorm... ORPHA:93126
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Prominent nose, Micrognathia, Anteriorly placed anu... OMIM:305450
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria... ORPHA:191
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Cryptorchidism, Supernu... OMIM:234100
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... ORPHA:168563
Congenital Disorder Of Glycosylation, Type Iq
Depressed nasal bridge, Microcytic anemia, Cutis laxa, Dysphagia, Microphthalmia, Dry skin OMIM:612379
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate OMIM:618798
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Abnormal dental enamel morphology, Micromelia, High, narrow palate, Short... ORPHA:3258
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridg... OMIM:139210
Diaphanospondylodysostosis
Inguinal hernia, Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, Cleft... OMIM:608022
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Thickened ribs, Abnormal heart valve morphology, Camptodactyly of finger, Abnormal p... ORPHA:217085
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Cleft palate, Hypoplasia of the zygomatic bone, Narrow mouth, ... ORPHA:83
Iniencephaly
Omphalocele, Rhizomelia, Congenital diaphragmatic hernia, Absent vertebra, Orofacial cleft, Gastr... ORPHA:63259
Raine Syndrome
Mandibular prognathia, Natal tooth, Depressed nasal bridge, Choanal atresia, Micromelia, Protrudi... OMIM:259775
Vici Syndrome
Recurrent respiratory infections, Ureteral atresia, Renal tubular acidosis, Cardiomyopathy, High ... ORPHA:1493
Whim Syndrome
Abnormal small intestine morphology, Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Res... ORPHA:51636
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Spinal neurofibroma, Ventricular septal defect, Pectus excavatum, Abnormal tibia morphology, Bone... ORPHA:363700
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... OMIM:229400
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Submucous cleft hard ... OMIM:619103
Mend Syndrome
Prominent nasal bridge, Asymmetry of the mouth, Micrognathia, Cryptorchidism, Cleft palate, Abnor... ORPHA:401973
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... OMIM:617506
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... OMIM:613451
Alazami Syndrome
Atrial septal defect, Slender long bone ORPHA:319671
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Conjunctival telangiectasia, Peripheral arteri... ORPHA:774
Ring Chromosome 7 Syndrome
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Situs inversus totalis, Small ha... ORPHA:1449
Momo Syndrome
Delayed eruption of teeth, Cutis marmorata, Abnormality of the thyroid gland, Thick lower lip ver... ORPHA:2563
Eisenmenger Syndrome
Hepatomegaly, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Clubbing,... ORPHA:97214
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pneumonia, Giant platelets, ... ORPHA:238459
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
20Q11.2 Microduplication Syndrome
Inguinal hernia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Cryptorchi... ORPHA:363659
Ring Chromosome 12 Syndrome
Syndactyly, Secundum atrial septal defect, High, narrow palate, Abnormal 5th finger morphology, G... ORPHA:1439
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Atrial septal defect, Right atrial enl... OMIM:615219
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Short metacarpal, Redundant skin, Abnormal nasal morphology, Anterio... OMIM:200110
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Cardiac fibroma, ... ORPHA:77301
Trisomy 20P
Smooth philtrum, Inguinal hernia, Macroorchidism, Anteverted nares, Camptodactyly of finger, Abno... ORPHA:261318
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Thickened ribs, Abnormal heart valve morphology, Camptodactyly of finger, Abnormal p... ORPHA:217093
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Facial palsy, Optic atrophy, Mitral valve prolapse, Cardiomyopathy, Sensory axonal neuropathy OMIM:258450
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Intraventricular hemorrhage, Wid... OMIM:613603
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Zttk Syndrome
Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Downturned corners of m... OMIM:617140
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Bulbous nose, Dilated cardiomyopa... OMIM:603736
Septooptic Dysplasia
Polydactyly, Optic nerve hypoplasia, Short finger OMIM:182230
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Microph... OMIM:167730
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect, Gastroesophageal reflux, 2-3 toe cutaneous syndactyly, High palate OMIM:620242
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Microcephaly 30, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Secundum atrial septal defect, Increased nuchal translucency OMIM:620183
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Cryptorchidi... OMIM:130650
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep p... OMIM:619833
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Downt... OMIM:618430
Treacher Collins Syndrome 3
Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia OMIM:248390
Familial Multiple Lipomatosis
Bowing of the long bones, Abnormal tricuspid valve morphology ORPHA:199276
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Small hand OMIM:618618
Desbuquois Dysplasia 1
Microretrognathia, Depressed nasal bridge, Short metatarsal, Concave nasal ridge, Short femoral n... OMIM:251450
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney OMIM:266810
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft... OMIM:154500
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Wid... OMIM:618727
Chondrodysplasia, Blomstrand Type
Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal bones, Advanc... OMIM:215045
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb, Bone marrow hypocellularity OMIM:609054
Joubert Syndrome 16
Polydactyly, Renal cyst, Nephronophthisis OMIM:614465
Bdv Syndrome
Atrial septal defect, Micropenis OMIM:619326
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, Arteria lusoria, 2-3 toe syndactyly, Anteriorly placed anus, Hig... OMIM:618653
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Depressed nasal bridge OMIM:616910
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Gastrointestinal dysmotility, Gen... OMIM:617798
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Stroke, Type II diabetes mellitus OMIM:615812
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... OMIM:619991
Cerebrocostomandibular Syndrome
Hydranencephaly, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Posterio... ORPHA:1393
Lathosterolosis
Foam cells with lamellar inclusion bodies, Anteverted nares, Bilobate gallbladder, Increased mean... OMIM:607330
Frontorhiny
Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinu... ORPHA:391474
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Joint stiffness, Metaphyseal widening, Split hand, Flexion contracture, Hyd... OMIM:253200
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Polydactyly, Narrow chest, Hypoplastic pelvis, Common atrium, Thin... OMIM:612731
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Subvalvular aorti... OMIM:619461
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... ORPHA:96191
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormality of the ureter, Hypospadias, Abnormal hip bone morph... ORPHA:2522
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Micrognathia, Narrow mouth, Cleft palate, High palate, Hypoplastic nipple... OMIM:156610
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... ORPHA:2363
Cutis Laxa, Autosomal Recessive, Type Iic
Atrial septal defect, Prominent superficial veins, Overlapping toe, Pyloric stenosis, Pneumothora... OMIM:617402
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... ORPHA:2211
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... ORPHA:93322
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Sinusitis, Bronchiectasis, A... OMIM:208900
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch... OMIM:614099
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Short hallux, Short foot, High palate, S... ORPHA:93258
Galloway-Mowat Syndrome 3
Hiatus hernia, Micrognathia, Coarctation of aorta, High palate, Narrow mouth, Microphthalmia, Cam... OMIM:617729
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Anteverted nares, Cleft soft palate, Micrognathia, Cryptorchidi... ORPHA:2282
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Macro... ORPHA:357001
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Gastr... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Gastr... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Gastr... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Gastr... ORPHA:881
Dubowitz Syndrome
Delayed eruption of teeth, Inguinal hernia, Aplastic anemia, Prominent nasal bridge, Broad nasal ... OMIM:223370
Vici Syndrome
Micrognathia, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, Neutropenia... OMIM:242840
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Anteverted nares, Depresse... OMIM:268310
Kabuki Syndrome 1
Congenital hip dislocation, High palate, Atrial septal defect, Prominent fingertip pads, Micropen... OMIM:147920
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Bruising susceptibility, Hernia ORPHA:300179
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia, Long philtrum OMIM:615877
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hip dysplasia, Deviation of... OMIM:616362
White-Sutton Syndrome
Duplicated collecting system, Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus ar... OMIM:616364
Rabson-Mendenhall Syndrome
Ventricular septal defect, Long penis, Furrowed tongue, Nephrocalcinosis, Cardiomyopathy, Macrogl... ORPHA:769
Menkes Disease
Gastrointestinal hemorrhage, Inguinal hernia, Malabsorption, Venous insufficiency, Vascular dilat... ORPHA:565
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Large hands, Abdominal situs inversus ORPHA:2062
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... OMIM:119800
3Mc Syndrome 3
Clinodactyly, Radioulnar synostosis, Preaxial polydactyly OMIM:248340
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Choanal atresia, Clef... OMIM:603457
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Perianal erythema, Cryptorchidism, Recurrent... OMIM:308205
Loeys-Dietz Syndrome
Abnormal bleeding, Striae distensae, Camptodactyly of finger, Arterial tortuosity, Micrognathia, ... ORPHA:60030
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Tapered finger, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctatio... OMIM:619480
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Ileal atresia, Micrognathi... OMIM:618820
Costello Syndrome
Barrel-shaped chest, Hyperextensibility of the finger joints, Atrial septal defect, Ventricular s... OMIM:218040
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Pectus excavatum, Hand polydactyly, Foot polydactyly, Shor... OMIM:258860
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Adactyly, Wide nasal bridge, Cle... ORPHA:989
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Neonatal death, Atrial septal de... OMIM:620244
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Trichohepatoneurodevelopmental Syndrome
High palate, Gastroesophageal reflux, Bilateral coxa valga, Clinodactyly of the 5th finger, Hepat... OMIM:618268
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno... OMIM:602450
Au-Kline Syndrome
Wide nasal ridge, Supernumerary nipple, Prominent nasal bridge, Underdeveloped nasal alae, Crypto... OMIM:616580
Noonan Syndrome 1
Pectus excavatum of inferior sternum, Ventricular septal defect, Lymphedema, Patent ductus arteri... OMIM:163950
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Leukocyte inclusion bodies, Prolonged bleeding time, Epistaxis, Giant platelet... OMIM:155100
Stuve-Wiedemann Syndrome 1
Pursed lips, Anteverted nares, Malar flattening, Micrognathia, Carious teeth, Short tibia, Pulmon... OMIM:601559
Dermotrichic Syndrome
Depressed nasal bridge, Short nose, Aganglionic megacolon, Anemia ORPHA:99688
Agel Amyloidosis
Tongue atrophy, Respiratory tract infection, Xerostomia, Dry skin, Cutis laxa, Cardiomyopathy, Ab... ORPHA:85448
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Hepatomegaly, Inguinal hernia, Grayish enamel, Carious teeth, Hypoplasia o... OMIM:253010
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Micrognathia, Prominent nasal bridge, Underdeveloped nasal alae ORPHA:2083
X-Linked Dominant Chondrodysplasia Punctata
Depressed nasal bridge, Scarring alopecia of scalp, Abnormal lung morphology, Flexion contracture... ORPHA:35173
Mucolipidosis Type Ii
Hip contracture, Abnormal mitral valve morphology, Craniosynostosis, Limited wrist movement, Limi... ORPHA:576
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Short hallux, Abnormality of ... OMIM:608156
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Macroglossia, Optic nerve hypoplasia, Cardiomyopathy ORPHA:370959
Marfan Syndrome
Dental crowding, Micrognathia, High, narrow palate, Increased axial length of the globe, Hypoplas... ORPHA:558
Osteogenesis Imperfecta, Type Vii
Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of... OMIM:610682
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... ORPHA:1071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Johanson-Blizzard Syndrome
Single transverse palmar crease, Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, ... OMIM:243800
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Joubert Syndrome 20
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Hepatomegaly, Tented upper lip vermilion, Dental crowding, Shoulder flexion cont... OMIM:620369
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Micrognathia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Supern... OMIM:619525
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Wide mo... OMIM:618590
Joubert Syndrome 7
Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge... OMIM:611560
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Prominence of the premaxilla, Depressed nasal bridge, Congenital diaphragmatic h... OMIM:614437
Bleeding Disorder In Hemophilia A Carriers
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed... ORPHA:177926
Osteogenesis Imperfecta
Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ... ORPHA:666
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect, Nephrolithiasis ORPHA:369929
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Thrombocytope... ORPHA:261323
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Poor wound healing, Atrophic... OMIM:130060
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Tapered finger, Ankle flexion ... ORPHA:464311
Histiocytoid Cardiomyopathy
Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Cleft palate, Stroke-like episod... ORPHA:137675
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity, Ventricular septal defect, Polyhydramnios, Deep palmar crease, Abnor... OMIM:607721
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Hypospadias, Sandal gap, Postaxial polydactyly OMIM:615761
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Hepatic fibrosis, High palate, N... OMIM:266920
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Nephrolithiasis, Desmoid tumors, Mitral ... ORPHA:137605
Warburg Micro Syndrome 4
Anteverted nares, Prominent nasal bridge, Cryptorchidism, Narrow mouth, Flexion contracture, Long... OMIM:615663
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Supernumerary maxillary incisor... OMIM:302350
Mowat-Wilson Syndrome
Delayed eruption of teeth, Prominent nasal tip, Aganglionic megacolon, Pulmonary artery sling, Ve... OMIM:235730
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of ... ORPHA:3107
Ayme-Gripp Syndrome
Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Abnormalit... OMIM:601088
Curry-Jones Syndrome
Occipital meningocele, Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydac... OMIM:601707
Phelan-Mcdermid Syndrome
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Vesicoureteral re... OMIM:606232
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom... OMIM:300912
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Tricuspid stenosis, Pulmonic stenosis, Edema ORPHA:100078
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Short femur, Cleft hard palate, Patent ductus arteriosus, Submucous cleft hard palate, Hypercalci... OMIM:300990
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... OMIM:615873
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Decreased response to growth hormone stimulation t... OMIM:616007
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Unilat... ORPHA:268261
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:619267
7Q11.23 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Craniosynostosi... ORPHA:96121
Osteoglophonic Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate... OMIM:166250
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Abnormal bleeding, Absent platelet dense granules, Epistaxis, Menorrhagi... OMIM:614073
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Atrial septal defect, Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Atrial septal defect, Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal... ORPHA:352665
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Pneumothorax, Hip dislocation, Ascending tubular aorta aneurysm, Hip dys... OMIM:617403
Aymé-Gripp Syndrome
Thin upper lip vermilion, Pericarditis, Inguinal hernia, Depressed nasal bridge, Congenital diaph... ORPHA:1272
Braddock Syndrome
Pectus excavatum, Preaxial hand polydactyly, Missing ribs ORPHA:52047
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Ventricular septal defect, Pectus excavatum, Osteoporosis, 2-3 toe s... ORPHA:488632
Monosomy 9P
Anteverted nares, Depressed nasal bridge, Choanal atresia, Abnormality of the dentition, Congenit... ORPHA:261112
Myhre Syndrome
Mandibular prognathia, Short palm, Inguinal hernia, Craniofacial hyperostosis, Femoral hernia, Pr... ORPHA:2588
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Anemia, Narrow mouth, ... ORPHA:2719
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Short hallux, Small hand, Cleft ... ORPHA:93260
Autoimmune Lymphoproliferative Syndrome
Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg... ORPHA:3261
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infec... ORPHA:2399
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Single transverse palmar crease, Urinary incontinence, High palate, Atrial se... OMIM:619522
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... ORPHA:444077
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... ORPHA:79404
Rodrigues Blindness
Narrow nasal bridge, Microphthalmia, Tooth malposition, Ectodermal dysplasia OMIM:268320
Distal Deletion 9P
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose ORPHA:1642
Aica-Ribosuria Due To Atic Deficiency
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Secundum atrial septal defect OMIM:608688
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Prematurely aged appearance, Progeroid facial appearance, Ab... ORPHA:90154
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Micrognathia ORPHA:1129
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prolonged bleeding afte... OMIM:615888
Neurodevelopmental Disorder With Spasticity And Poor Growth
Recurrent respiratory infections, Single transverse palmar crease, High, narrow palate, Patent du... OMIM:618076
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Micromelia, Micrognathia, Downturned corners of mouth, Widely sp... ORPHA:199
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Inguinal hernia, Flexion contracture, Hypodontia, Short nose ORPHA:544503
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi... ORPHA:93929
Pseudoxanthoma Elasticum, Forme Fruste
Peau d'orange, Abnormal sternum morphology, Mitral valve prolapse OMIM:177850
Vascular Ehlers-Danlos Syndrome
Redundant skin, High, narrow palate, Abnormality of the gingiva, Gingivitis, Gastrointestinal inf... ORPHA:286
Restrictive Dermopathy 1
Limb joint contracture, Rocker bottom foot, Polyhydramnios, Ankylosis, Patent ductus arteriosus, ... OMIM:275210
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodactyly of the 5th ... ORPHA:397590
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Portal hypertension, Portal vein thrombosis... ORPHA:729
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, High palate, Recurrent ... OMIM:300472
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Short metacarpal, Cleft upper lip, Wide nasal bridge, Cleft palate, Wide m... OMIM:201180
Difference Of Sex Development-Intellectual Disability Syndrome
Downturned corners of mouth, Short nose, Thin vermilion border, Short philtrum ORPHA:2983
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Mitral valve calcification, Sandal gap, Joint stiffness, Decreased fibular diameter, ... OMIM:619127
Vitreoretinochoroidopathy
Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion, Vitreous hemorrhage OMIM:193220
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Increased femoral anteversion, ... OMIM:609460
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum, Wide mouth, Sho... ORPHA:1974
Syngap1-Related Developmental And Epileptic Encephalopathy
High palate, Hypospadias, Postaxial polydactyly ORPHA:544254
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Ventricular septal defect, Single transverse palmar crease, Optic atrophy, Sma... OMIM:614947
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Renal insufficiency, Unilateral renal agenesis, Acute leukemia ORPHA:281090
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... OMIM:614072
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Single transverse palmar crease, Foot joint contracture, Tapered finge... ORPHA:444072
Schneckenbecken Dysplasia
Hypoplastic scapulae, Cleft palate, Short ribs, Limb undergrowth, Malar flattening, Short nose OMIM:269250
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Joint stiffness, Secundum atrial septal defect, Flexion contracture, Pect... OMIM:609069
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Prematurely aged appearance, Hypoplasia o... ORPHA:33364
Alzahrani-Kuwahara Syndrome
Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Ventricular septal defect, Persi... OMIM:619268
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... ORPHA:1606
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hip contracture, Atrial septal defect, Bilateral fetal pyelectasis,... OMIM:300868
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Depressed nasal br... OMIM:267000
Genitopatellar Syndrome
Congenital hip dislocation, Knee flexion contracture, Anteriorly placed anus, Atrial septal defec... OMIM:606170
Peho Syndrome
Recurrent respiratory infections, Anteverted nares, Short nose, Flexion contracture, Gingival ove... ORPHA:2836
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Hypospadias, Submucous cleft hard palate, Flexion contracture, Generalized limb muscle atrophy, A... OMIM:618891
Monosomy 22
Wide nose, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Contractures... ORPHA:96123
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Dysphagia OMIM:308350
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Adrenal hypoplasia, Proboscis, Malar flatte... OMIM:157170
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Dysphagia OMIM:618325
Mgat2-Cdg
Osteopenia, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Hydrops fetali... ORPHA:79329
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation, Cleft palate, Cleft upper lip OMIM:611561
Atelosteogenesis, Type I
11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Depressed nasal bridge, Rhizomeli... OMIM:108720
Fanconi Anemia, Complementation Group R
Anal atresia, Absent thumb, Agenesis of permanent teeth, Bone marrow hypocellularity, Microphthal... OMIM:617244
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, Aortic valve stenos... OMIM:300960
Shprintzen Omphalocele Syndrome
Omphalocele, Flared nostrils, Wide nasal bridge, Short columella, Thin vermilion border, Anal atr... OMIM:182210
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Coronary artery stenos... ORPHA:66529
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... ORPHA:534
Joubert Syndrome 27
Dilatation of the renal pelvis, Polydactyly OMIM:617120
Arboleda-Tham Syndrome
Secundum atrial septal defect, Long thorax, Narrow chest, Atrial septal defect, Genu varum, Short... OMIM:616268
Treacher Collins Syndrome 2
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Choanal stenosis, Hypoplasia of t... OMIM:613717
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate... OMIM:615803
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Overlapping toe, Proteinuria, Cerebral hemorrhage, Hiatus hernia, Inte... OMIM:616682
Ivic Syndrome
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... ORPHA:2307
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Pat... ORPHA:85276
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Dilated cardiomyopathy, Histiocyto... OMIM:300952
Aspartylglucosaminuria
Mandibular prognathia, Recurrent respiratory infections, Inguinal hernia, Hepatomegaly, Abnormali... ORPHA:93
Phocomelia, Schinzel Type
Micromelia, Micrognathia, Aplasia of the ulna, High, narrow palate, Hypoplasia of the radius, Apl... ORPHA:2879
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short fourth metatarsal, Tented upper lip vermilion, Depressed nasal bridge, Short metacarpal, Th... OMIM:616723
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucou... OMIM:300967
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Proximal placement of thumb, Dilated cardiomyopathy, Hip dysplasia, In... ORPHA:261250
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Microphthalmia, Syndromic 6
Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Micrognathia, Cryptorchidism, Anterior hyp... OMIM:607932
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Microme... OMIM:200600
Stickler Syndrome
Recurrent respiratory infections, Anteverted nares, Abnormal dental enamel morphology, Depressed ... ORPHA:828
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Short nose, Anteverted nares, Thick vermilion border ORPHA:1185
Koolen-De Vries Syndrome Due To A Point Mutation
Joint laxity, Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Ara... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint laxity, Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Ara... ORPHA:363958
Radio-Tartaglia Syndrome
Ventricular septal defect, Tapered finger, High, narrow palate, High palate, Gastroesophageal ref... OMIM:619312
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Abnormality of the ureter, P... ORPHA:3253
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum OMIM:103050
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Macrothrombocytopenia, Short philtrum, Neutropenia, Thrombocytopenia, Pu... OMIM:603585
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Leukocytosis, Flexion contracture, Renal hypoplasia, G... OMIM:619321
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hyperextensibility of the finger joints, Hepatomegaly, Splenomegaly, Patent... OMIM:135500
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ... OMIM:617527
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, High, nar... OMIM:613406
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Ventricular septal defect, Thoracolumbar kyphoscoliosis, Proximal placement of thumb,... OMIM:212066
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Cleft palate,... OMIM:616462
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia o... ORPHA:3404
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Hy... ORPHA:402075
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi... OMIM:619005
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Retinitis Pigmentosa 51
Polydactyly, Abnormality of the kidney OMIM:613464
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Congenital hip dislocation, Aqueductal stenosis, Long fingers, Hydrocephalu... OMIM:619512
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Dental crowding, Esophageal varix, Intracranial hemorr... ORPHA:394
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Faciodigitogenital Syndrome, Autosomal Recessive
Inguinal hernia, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Deep philtrum, Trismus... OMIM:227330
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Short nose OMIM:618087
Laurence-Moon Syndrome
Micropenis, Polydactyly, Abnormality of the hand OMIM:245800
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Toe syndactyly, Hypospadias, Single transverse palmar crease, Ventricular s... ORPHA:459070
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Gastroesophageal reflux, Patent foramen ovale ORPHA:542306
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Apl... ORPHA:2839
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Opsismodysplasia
Recurrent respiratory infections, Hepatomegaly, Depressed nasal bridge, Splenomegaly, Hypoplastic... ORPHA:2746
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Ectodermal Dysplasia-Blindness Syndrome
Narrow nasal bridge, Recurrent respiratory infections, Abnormality of the dentition, Skin ulcer, ... ORPHA:1806
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Abnorm... OMIM:214500
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Micrognathia, Flexion contracture, Facial telangiectasia, Short nose OMIM:615851
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Recurrent urinary tract infections, Sandal gap, Ventricular septal defect, S... OMIM:619229
Lathosterolosis
Hepatomegaly, Anteverted nares, Micrognathia, Intrahepatic cholestasis, Bulbous nose, Gingival ov... ORPHA:46059
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Abno... ORPHA:167
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele, Thin upper lip vermilion, Downturned corners of mouth, Short columella, Gastroesopha... ORPHA:3164
Menke-Hennekam Syndrome 1
Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, High palate, Short philt... OMIM:618332
Oeis Complex
Omphalocele, Absence of the sacrum, 11 pairs of ribs, Intestinal malrotation, Cryptorchidism, Ant... OMIM:258040
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Abnormal thorax morphology, Epiphyseal ... OMIM:302960
Joubert Syndrome 23
Polydactyly OMIM:616490
Hajdu-Cheney Syndrome
Hypospadias, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Osteoly... OMIM:102500
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Absent nipple, Depressed nasal bridge, Abnormal oral mucosa morpholo... OMIM:305100
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Malabsorption... ORPHA:50
Pseudoxanthoma Elasticum
Restrictive cardiomyopathy, Mitral stenosis, Optic disc drusen, Mitral valve prolapse OMIM:264800
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Coxa vara, High palate, Wrist flexion contracture, Abnormal ... ORPHA:800
Galloway-Mowat Syndrome 1
Narrow nasal ridge, Hiatus hernia, Prominent nose, Micrognathia, Wide mouth, Hypoplasia of the ir... OMIM:251300
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Keutel Syndrome
Ventricular septal defect, Recurrent bronchitis, Short hallux, Premature fusion of phalangeal epi... OMIM:245150
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Hepatomegaly, Abnormal pulmonary val... ORPHA:667
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Flexion contracture, Optic nerve hypoplasia, Narrow mouth OMIM:614833
Lissencephaly 8
Microphthalmia OMIM:617255
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Hemiatrophy, Ne... ORPHA:2874
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Renal dysplasia, Congenital hip dislocation, Overlapping toe, Postaxial polydactyl... ORPHA:480880
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Recurrent respiratory infections, Inguinal hernia, Aganglionic megacolon, Abnormal d... ORPHA:2273
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Gastrointestinal... ORPHA:506
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Occipital Horn Syndrome
Venous insufficiency, High, narrow palate, Gastroesophageal reflux, Short palm, Femoral hernia, S... ORPHA:198
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Postaxial hand polydactyly, Short sternum, Pectus excavatum OMIM:258850
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Wide nose, Prominent nasal bridge, Convex nasal ridge, Prominent nose, Dental malocclusion, High ... OMIM:601552
Incontinentia Pigmenti
Delayed eruption of teeth, Hypoplasia of the fovea, Eosinophilia, Supernumerary nipple, Conical t... OMIM:308300
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Supernu... ORPHA:464
Robin Sequence With Cleft Mandible And Limb Anomalies
Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate, Short tibia, Bifid uvula, M... OMIM:268305
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia ORPHA:93947
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... ORPHA:2929
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... OMIM:614732
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Short nose, Micromelia, Long philtrum ORPHA:50810
Scorpion Envenomation
Acute pancreatitis, Pulmonary edema, Myocarditis, Erythema, Stroke, Purpura ORPHA:466677
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasi... OMIM:620330
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Progressive flexion contractures, Malar flattening, Cleft upper ... ORPHA:3103
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty ORPHA:2788
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Secundum atrial septal defect, Metaphyseal widening, Subarterial ven... ORPHA:99646
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Abnormal dental enamel morphology, Epistaxis, Mal... ORPHA:79430
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Flexion contracture, Small hand, Xerostomia, Short foot, Hip dy... ORPHA:398069
Deafness, X-Linked 7
Wide nasal bridge, Unilateral microphthalmos OMIM:301018
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Downturned cor... ORPHA:500150
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Recurrent urinary tract infections, Rectal prolapse, Short metatarsal, Renal hy... OMIM:617157
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... OMIM:619004
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Short nose, Anteverted nares, Underdeveloped nasal alae ORPHA:2031
Cadds
Short nose, Micrognathia ORPHA:369942
Cerebrofaciothoracic Dysplasia
Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum ORPHA:1394
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Short palm, Neutropen... ORPHA:93357
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left ... ORPHA:438213
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, ... ORPHA:1827
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Malabsorption... ORPHA:83471
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypospadias, Tapered finger, Protruding tongue, Renal hypoplasia, Genu valgum, Micropenis, Macrog... OMIM:309580
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Slender nose, Hepatomegaly, Mandibular prognathia, Premature... OMIM:133540
Sotos Syndrome
Ureteral duplication, Flexion contracture, Gastroesophageal reflux, Atrial septal defect, Vesicou... ORPHA:821
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Ventricular septal defect, Pectus excavatum, Meningocele, Joint hyperf... ORPHA:2789
Unilateral Polymicrogyria
Pseudobulbar paralysis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Recurrent respiratory infections, Cleft soft palate, Tapered finger, Long fingers, High, narrow p... OMIM:619950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... ORPHA:75565
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure... ORPHA:3339
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Opsismodysplasia
Short palm, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Hypoplasia of... OMIM:258480
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Micrognathia, Alveolar ridge overgrowth, Cleft palate, Mesomeli... OMIM:260660
Ramos-Arroyo Syndrome
Aganglionic megacolon, Patent ductus arteriosus, Xerostomia, Abnormal autonomic nervous system ph... ORPHA:1051
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... OMIM:615989
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Thrombocytopenia, Limb hypertonia ORPHA:457351
Holoprosencephaly 1
Median cleft lip and palate, Adrenal hypoplasia, Proboscis, Aplasia of the nose, Microphthalmia, ... OMIM:236100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura OMIM:235400
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Increased mean platelet volume, Giant ... ORPHA:182050
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleedi... OMIM:619172
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Short femoral neck, Bruising susceptibility ORPHA:157965
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... ORPHA:2973
Warburg Micro Syndrome 2
Prominent nasal bridge, Cryptorchidism, Flexion contracture, Microphthalmia, Short nose OMIM:614225
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Narrow mouth, Malar flattening, S... OMIM:601353
Orofaciodigital Syndrome Type 14
Broad hallux, Deviation of the hallux, Ventricular septal defect, Hamartoma of tongue, Epispadias... ORPHA:434179
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Hypoplasia of the radius, Wide nasal bridge, Short nose ORPHA:2557
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hematochezia, R... OMIM:619575
Neurofibromatosis-Noonan Syndrome
Pectus excavatum of inferior sternum, Secundum atrial septal defect, Pectus excavatum, Neurofibro... OMIM:601321
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Inguinal hernia, Redundant umbilical skin, Cleft soft palate, Patent ductus arteriosus, Aortic ru... OMIM:614557
Sandhoff Disease, Infantile Form
Mitral valve prolapse ORPHA:309155
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Bicuspid aortic valve, Secundum atrial septal defect, Long fingers, Patent ductus arter... OMIM:613355
Zika Virus Disease
Optic disc hypoplasia, Thrombocytopenia, Subcutaneous hemorrhage ORPHA:448237
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Skeletal muscle atrophy, Bifid uvula, Pulmonic stenosis OMIM:615802
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Facial hypotonia, Unilateral renal agenesis, Postaxial polydactyly, Hypoplastic aor... ORPHA:457284
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... OMIM:149730
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom... OMIM:139090
Orofaciodigital Syndrome Type 3
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Thoracic kyphosis, Shor... ORPHA:2752
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Patent ductus arteriosus, Dilated cardiomyopathy, Rhabdomyolysis, Concentric hypert... OMIM:610505
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Aplasia of the thymus, Duodenal atresia ORPHA:3004
Bardet-Biedl Syndrome 6
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly OMIM:605231
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Rhizomelia, Abnormality of the d... OMIM:271510
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Underdeveloped nasal alae, Biliary hyper... ORPHA:83617
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
Dend Syndrome
Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum ORPHA:79134
Orofaciodigital Syndrome Type 1
Finger syndactyly, Brachydactyly, Tarsal synostosis, Hamartoma of tongue, Pancreatic cysts, Abnor... ORPHA:2750
Plaa-Associated Neurodevelopmental Disorder
Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Smooth philtrum ORPHA:521426
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Cleft palate, Ureterocele, Short finger, Broad finger, Micropenis, Ren... ORPHA:1934
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Thin upper lip vermilion, Progressive flexion contractures, Gastroesophageal reflux, Atrial septa... ORPHA:522077
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Aicardi Syndrome
Prominence of the premaxilla, Anteverted nares, Hiatus hernia, Cleft upper lip, Precocious pubert... OMIM:304050
Blepharophimosis, Ptosis, And Epicanthus Inversus
Depressed nasal bridge, Increased circulating gonadotropin level, Wide nasal bridge, High palate,... OMIM:110100
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility ORPHA:352723
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula... ORPHA:95699
Microphthalmia, Lenz Type
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th... ORPHA:568
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acute hepatitis, Bruising sus... ORPHA:905
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Meno... OMIM:614074
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Polyhydramnios, Short metatarsal, Hy... OMIM:216340
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Barrel-shaped chest, Ventricular septal defect, Recurrent fractures, Metaphyseal wide... OMIM:259770
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Aganglionic mega... OMIM:236700
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Short fourth metatarsal, Short fifth metatarsal, Septo-optic dysplas... OMIM:619841
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Peripheral axonal neuropathy, Scapular winging, Dilated cardiomyopathy, Mitral valve prolapse, Se... OMIM:607459
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Flexion contracture, High palate, Talipes equinovarus, Gastroesophagea... OMIM:614653
Proteus Syndrome
Neoplasm of the thymus, Abnormal lung lobation, Thick nasal alae, Anteverted nares, Abnormal dent... ORPHA:744
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Micrognathia, Narrow mouth, Bu... OMIM:309590
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Tapered finger, Short thumb, Lower limb hypertonia, Chordee, Clinodactyly of the 5th... ORPHA:477993
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Cryptorchidism, Cleft palate, Buphthalmos,... OMIM:236670
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Intestinal carcinoid ORPHA:100079
Skin Creases, Congenital Symmetric Circumferential, 2
Short palm, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Carious teeth, Crypto... OMIM:616734
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Lip pit, Hypodontia, Microp... ORPHA:1236
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Gaucher Disease, Type Iiic
Aortic valve calcification, Mitral stenosis, Mitral valve calcification, Cardiomegaly OMIM:231005
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Joint laxity, Mitral valve prolapse ORPHA:449291
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge, Triangular mouth OMIM:617988
Occipital Horn Syndrome
Short humerus, Redundant skin, Hiatus hernia, High palate, Short clavicles, Long philtrum, Bruisi... OMIM:304150
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Pleural effusion, Right atrial enlargement, Mitral valve prolapse OMIM:620233
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, U... OMIM:619426
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
1P21.3 Microdeletion Syndrome
Wide mouth, Short nose, Micrognathia, Broad nasal tip ORPHA:293948
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Flexion contracture, Abnormally large globe OMIM:615249
Adnp Syndrome
Recurrent urinary tract infections, Broad hallux, Single transverse palmar crease, Sandal gap, Ur... ORPHA:404448
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes... OMIM:187300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Oral ulcer, Gingivitis, Inflammation of the large intesti... ORPHA:79259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Congenital contracture, Microphthalmia OMIM:613150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, High, narrow palate, Short philtrum, High palate, Hepatic steatosis, Antev... OMIM:619475
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Abn... OMIM:600057
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Oligohydramnios OMIM:615824
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:605735
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Micrognathia OMIM:617306
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hepatic failure... OMIM:619431
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Hypospadias, Facial palsy, Celiac disease, Short thumb, Slender fi... OMIM:619325
Pelvis-Shoulder Dysplasia
Microphthalmia, Hypoplastic scapulae, Short clavicles OMIM:169550
Scarf Syndrome
Craniosynostosis, Pectus carinatum, Joint hyperflexibility, Short sternum, Umbilical hernia ORPHA:3134
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone m... ORPHA:101096
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Absent radius, Preaxial hand polydactyly, Hypoplasia of the radi... ORPHA:233
Neuroocular Syndrome
Hypoplasia of the fovea, Patent foramen ovale, Short uvula, Submucous cleft hard palate, Lens col... OMIM:619539
Retinitis Pigmentosa 74
Optic disc pallor, Polydactyly OMIM:616562
Spondylocarpotarsal Synostosis Syndrome
Inguinal hernia, Short metacarpal, Anteverted nares, Broad nasal tip, Hypoplasia of the odontoid ... OMIM:272460
Maternal Uniparental Disomy Of Chromosome 2
Clinodactyly of the 5th finger, Contractures of the large joints, Preaxial hand polydactyly, Olig... ORPHA:96179
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... OMIM:601399
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased circulating cortisol lev... OMIM:615830
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Rhizomelia, Decreased response to growt... ORPHA:319182
Adiposis Dolorosa
Telangiectasia of the skin, Xerostomia, Dry skin, Hypothyroidism, Bruising susceptibility ORPHA:36397
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Micrognathia, Chylothorax, Congenital contracture OMIM:619036
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Bruising susceptibility,... OMIM:614076
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis, Intestinal malrotation OMIM:249210
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Flexion contracture, Congenital pyloric atresia, Abn... ORPHA:158684
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular telangiectasia, Vitreous hemorrhage ORPHA:891
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia OMIM:601709
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short palm, Short metacarpal, Depressed nasal bridge, Micromelia, Micrognathia, Hypoplasia of the... OMIM:271665
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia ORPHA:2714
Oculopalatocerebral Syndrome
Microphthalmia, Cleft palate OMIM:257910
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Multiple joint contractures, Optic nerve hypoplasia, Prominent nasal bridge, A... ORPHA:468631
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Prolonged bleeding time, Rhizomelia, Tooth agenesis, Mesomelia, Bruising susce... OMIM:616229
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Talipes equinovarus OMIM:617260
Scarf Syndrome
Barrel-shaped chest, Pectus carinatum, Short sternum, Lambdoidal craniosynostosis, Umbilical hern... OMIM:312830
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hydronephrosis, Hem... ORPHA:79403
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia, Corneal scarring OMIM:212550
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Plethora, Hepatic steatosis, Dorsocervical fat pad, Paradoxical... ORPHA:189427
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral arteriovenous malformation, Tongue telangiectasia, Gastrointestinal arteriovenous malfor... OMIM:600376
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Aortic valve calcific... ORPHA:79474
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Anal stenosis, Toe syndactyly, Hydroureter, Renal ... OMIM:604292
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Choanal Atresia
Tracheomalacia, Polydactyly, Craniosynostosis ORPHA:137914
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Recurrent respiratory infections, Toe syndactyly, ... OMIM:129900
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingiva... OMIM:614077
Joubert Syndrome 2
Microphthalmia, Depressed nasal bridge, High palate OMIM:608091
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Abnormal thorax m... ORPHA:740
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Wide mouth, High palate, Short nose, Convex nasal ridge OMIM:300661
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, High palate, Gastroesophageal reflux, Atrial septal defect, Ureteropelvic ... OMIM:300896
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time, Protein-losing enteropathy ORPHA:95428
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Long philtrum OMIM:615145
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin... ORPHA:2636
Momo Syndrome
Large hands, Short sternum OMIM:157980
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Short toe, Abnormal lung lobation, Cutaneous synd... OMIM:617667
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R... OMIM:270420
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Hypothyroidism, Congenital, Nongoitrous, 5
Patent foramen ovale OMIM:225250
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Monosomy 13Q14
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Prominent nasal bridg... ORPHA:1587
Brittle Cornea Syndrome 2
Umbilical hernia, Inguinal hernia, Bruising susceptibility OMIM:614170
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cutaneous photosensitivity, Hypogonadism, Progeroid facial appearance OMIM:610651
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Acromesomelic Dysplasia 1
Short metacarpal, Short toe, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose OMIM:602875
Hemophilia A
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Muscle hemorrhage OMIM:306700
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Bruising susceptibility, Bleeding requiring red ce... OMIM:619484
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasi... ORPHA:261265
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Hydroureter, Unilateral renal agenesis, Submucous cleft hard palate, Elbow flexi... OMIM:619194
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Clinodactyly of the 5th finger, Mitral valve prolapse ORPHA:369950
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Inguinal hernia, Depressed nasal bridge, Dental crowding, Poor wound... OMIM:225400
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne... ORPHA:512
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Bruising susceptibility, Poor wound healing, Dermal translucency OMIM:619120
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... OMIM:610655
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Cutaneous photosensitivity, Telangiectasia OMIM:278730
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Holoprosencephaly, Osteop... ORPHA:95494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Pallor, Microph... OMIM:253280
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Transient ischemic attack, Duplication of thumb phalanx, Abnormality of the upper ur... ORPHA:2995
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose, Thick vermilion border, Long philtrum OMIM:252160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retrognathia, Optic nerve hypoplasia OMIM:614643
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Precocious atherosclerosis, Abnormal internal carotid artery morphology, Perip... ORPHA:391665
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly ORPHA:1297
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose, Thick vermilion border, Long philtrum OMIM:252150
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bilateral talipes... OMIM:600145
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Norrie Disease
Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Diabetes mellitus, Venous insufficiency, Cry... ORPHA:649
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye ORPHA:91495
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Single transverse palmar crease, Ureterocele, Decreased liver function OMIM:614863
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Short metacarpal, Rhizomelia ORPHA:85167
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis OMIM:619362
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Bilateral microphthalmos, Abnormal circulating folli... ORPHA:93325
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema OMIM:221900
Culler-Jones Syndrome
Cleft palate, Micropenis, Postaxial polydactyly OMIM:615849
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... OMIM:175780
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Jaundice, Hepatitis, Hepatic necrosis, Hepatocell... ORPHA:90062
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Atrophic scars, Bruising susceptibility, Fragile skin OMIM:617821
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Macul... OMIM:609049
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Alveolar ridge overgrowth, Corneal scarring, Bruising susceptibility, Anemia, Aplasia ... ORPHA:642
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia, Anemia OMIM:127000
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Bruising susceptibility OMIM:112250
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Chand Syndrome
Short fifth metatarsal, Hydroureter, Atelectasis, Cleft palate, Bifid tongue ORPHA:1401
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Cryptorchidism, Corneal scarring, Keloids, Microphthalmia, Enamel hypopl... OMIM:309000
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication, High, narrow palate ORPHA:457212

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 Megf8

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 Megf8.

No publications found that use IMPC mice or data for Megf8.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Megf8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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