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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
Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Umbilical hernia, Preaxial foot poly... ORPHA:65759
Carpenter Syndrome 2
Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, Atrial septal defect, Dextrocardia... 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
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c... OMIM:306955
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... OMIM:605376
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb ... ORPHA:294975
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation... OMIM:615524
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Left superior vena cava draining direct... OMIM:619657
Meacham Syndrome
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Dextrocardia, Patent duct... OMIM:608978
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... OMIM:615415
Genitopalatocardiac Syndrome
Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Transposition of the... OMIM:231060
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Intestinal malrotation, Abnormal heart morphology, Abnormal ... ORPHA:244
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly,... OMIM:615996
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Situs inversus totalis, Recurrent sinu... OMIM:615482
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Situs inversus totalis, Asplenia, High palate OMIM:612776
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Congenital diaphragmatic hernia, Ventricular septal defect, Micropenis... OMIM:618280
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Holt-Oram Syndrome
Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... ORPHA:392
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Hydronephrosis, Persistent left superior vena cava,... OMIM:314390
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda... ORPHA:261243
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de... ORPHA:1120
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Complete atrio... OMIM:619142
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Holzgreve Syndrome
Hypoplastic left heart, Renal hypoplasia, Renal agenesis, Hand polydactyly, Cleft palate OMIM:236110
Heart Defects-Limb Shortening Syndrome
Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal tricuspid valve morphology, Abnormal... ORPHA:1354
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet... ORPHA:210122
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Right aortic arch, Situs inversus tot... OMIM:620642
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Foot oligodactyly, Portal hypertension, Splenomegaly, Ventric... OMIM:616589
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Pierre Robin Syndrome
Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, Complete atrioventricular canal ... OMIM:217085
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurre... OMIM:613807
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Dextrocardia
Congenital hip dislocation, Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypop... ORPHA:1666
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Brachydactyly... OMIM:619123
Cat Eye Syndrome
Ventricular septal defect, Atrial septal defect, Rectal atresia, Absent radius, Anal atresia, Pat... OMIM:115470
Fetal Trimethadione Syndrome
Depressed nasal bridge, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Transpositi... ORPHA:1913
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Duodenal atresia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608
Chromosome 1P36 Deletion Syndrome, Proximal
Bifid nasal tip, Dilated cardiomyopathy, Cleft lip, Biventricular hypertrophy, Coronary artery fi... OMIM:619343
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Ventricula... OMIM:201000
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Situs inversus totalis, Dextrocardia ORPHA:66630
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Renal agenesis, Polysplenia, Tetralogy of Fallot, Abnormal peri... ORPHA:1335
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Ventricular septal defect, Anal a... OMIM:612946
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wide nasal bridge, Broad alveolar ridges, Delayed eruption of teeth, Tooth agenesis, Depressed na... ORPHA:2863
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Depressed nasal ridge, Aplasia/Hypoplasia of the... ORPHA:1727
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, Median cleft palate, Complete atrio... OMIM:264480
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morpho... ORPHA:1937
Mosaic Trisomy 9
Elbow dislocation, Endocardial fibroelastosis, Ventricular septal defect, Talipes equinovarus, At... ORPHA:99776
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ... OMIM:265380
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Short ... OMIM:618316
Double Outlet Right Ventricle
Hypoplastic left heart, Depressed nasal bridge, Aplasia/Hypoplasia of the thymus, Intestinal malr... ORPHA:3426
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Feingold Syndrome 1
Interrupted aortic arch, Accessory spleen, Annular pancreas, Short toe, Polysplenia, Short thumb,... OMIM:164280
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Right aortic arch, Renal insuffici... OMIM:617478
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Single ventricl... OMIM:601186
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic ... OMIM:613177
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Cleft upper lip, Coronary artery fistula, Tented upper lip vermilion, Congenital dia... OMIM:614294
Alagille Syndrome 2
Cholestatic liver disease, Peripheral pulmonary artery stenosis, Renal hypoplasia, Tetralogy of F... OMIM:610205
Pseudo-Torch Syndrome 1
Microretrognathia, Cleft lip, Long philtrum, Umbilical hernia, Anteverted nares, Petechiae, Paten... OMIM:251290
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Atrioventricular canal defect, Anteverted nares, Micrognathia, Conotrun... ORPHA:40366
Chromosome 16P13.3 Deletion Syndrome, Proximal
Hypoplastic left heart, Broad thumb, Broad hallux, Polysplenia, Abnormality of the kidney, Clinod... OMIM:610543
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Ventr... ORPHA:261120
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... ORPHA:1200
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate ORPHA:2015
Anencephaly 2
Median cleft palate, Anophthalmia, Median cleft upper lip, Bifid nose, Cleft maxillary alveolar r... OMIM:619452
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Abnormal 3rd finger morphology... OMIM:249670
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Cutis marmorata, Aplasi... OMIM:615297
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Acute megakar... OMIM:190685
Orofaciodigital Syndrome Xvii
High, narrow palate, Renal hypoplasia, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of... OMIM:617926
Distal Duplication 17Q
Accessory spleen, Rhizomelia, Abnormal heart morphology, Overlapping toe, Genu valgum, Vesicouret... ORPHA:3379
Ferguson-Bonni Neurodevelopmental Syndrome
Micrognathia, Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fi... OMIM:619699
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Tetralogy of Fallot, Abnormal heart morphology, Ventricu... ORPHA:261183
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Clinodactyly, Abnormality of the ureter, Bowing of the long bones, Fo... OMIM:249000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Rhizomelia, Downturned corners of mouth, Micrognathia, Ventricular septal defe... ORPHA:93267
Fetal Encasement Syndrome
Upper limb undergrowth, Tetralogy of Fallot, Congenital diaphragmatic hernia, Lower limb undergro... OMIM:613630
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Umbilical hernia, Preaxial foot poly... ORPHA:65759
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Finger syndactyly, Abnormal mesentery morphology, Aplasia of the proximal phala... ORPHA:2256
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Promin... OMIM:618494
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Gombo Syndrome
Abnormal heart morphology, Delayed puberty, Microphthalmia OMIM:233270
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Ventricul... OMIM:301068
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Ventricular septal defect, Talipes equin... ORPHA:2970
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Abnormality of the urinary system, Patent ductus arteriosus, Anomalous pulmo... ORPHA:2184
Sandestig-Stefanova Syndrome
Wide nasal bridge, Retrognathia, Muscular ventricular septal defect, Perimembranous ventricular s... OMIM:618804
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:614679
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hypoplasia of... ORPHA:564
Recombinant Chromosome 8 Syndrome
Depressed nasal bridge, Joint contracture of the hand, Abnormality of the dentition, Downturned c... OMIM:179613
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Short toe, Long philtrum, Short 5th metacarpal, Anteverted nares, Anterior open-... OMIM:617877
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Stage 5 chronic kidney disease, Situs inv... OMIM:615994
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent... OMIM:620294
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:611884
Fryns Syndrome
Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Microphthalmia, Anal atresia, High... ORPHA:2059
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis, Abnormal tricuspid valve morp... ORPHA:1759
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Hypoplastic left heart, Unilateral renal agenesis, Rhizomelia, Renal hypoplasia, Chronic kidney d... OMIM:617661
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Intellectual Developmental Disorder, Autosomal Dominant 66
Toe clinodactyly, Secundum atrial septal defect, Aortic root aneurysm, Clinodactyly of the 5th fi... OMIM:619910
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia, Acetabular dysplasia OMIM:618313
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Ventricular septal defect, Postaxial ... OMIM:618142
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d... OMIM:142900
Prolidase Deficiency
Depressed nasal bridge, Recurrent pneumonia, Skin ulcer, Micrognathia, Petechiae, Splenomegaly, D... OMIM:170100
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Wide nasal bridge, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atri... ORPHA:251071
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... ORPHA:3002
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Camptodactyly of finger, Joint stiffness, Radial deviation of the ... ORPHA:1388
Acropectoral Syndrome
Pectus carinatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb... OMIM:605967
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Aspiration pneumonia, Horseshoe kidney, Vesicourete... OMIM:616368
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ... OMIM:615503
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Meckel Syndrome, Type 8
Depressed nasal ridge, Cleft upper lip, Anophthalmia, Microphthalmia, Pericardial effusion, Cleft... OMIM:613885
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Small hand, Renal hypoplasia, Eleva... OMIM:620005
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Anteverted nares, Micrognathia, Malar flattening, High palate, Shor... ORPHA:217340
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Splenomegaly, ... OMIM:620296
Meier-Gorlin Syndrome 7
Aplasia/Hypoplasia of the patella, Ventricular septal defect, Urethral stricture, Atrial septal d... OMIM:617063
Congenital Sialidosis Type 2
Umbilical hernia, Abnormal heart morphology, Cherry red spot of the macula, Hepatosplenomegaly, G... ORPHA:93400
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... OMIM:600001
Even-Plus Syndrome
Epiphyseal dysplasia, Renal hypoplasia, Recurrent urinary tract infections, Dysplasia of the femo... OMIM:616854
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Micrognathia, Abnormal palate morphology, Abnormal mitral valve morphology, Conve... ORPHA:1277
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Dextrotransposition of the great arte... OMIM:619995
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Microphthalmi... ORPHA:3434
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Ventricular septal defect, E... OMIM:613759
Kagami-Ogata Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteverted nares,... OMIM:608149
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Depressed nasal bridge, Tetralogy of Fallot, Decre... OMIM:220210
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, Ectrodactyly, Uretera... ORPHA:2437
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Prominent veins on ... OMIM:277740
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... ORPHA:363444
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Asplenia, Bronchiectasis OMIM:244400
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Small hand, Aortic root aneurysm, Natal tooth, Long ph... OMIM:145420
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Retrognathia, Everted upper lip vermilion, Anteverted nares, Micrognathia... OMIM:608013
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Tetralogy of Fallot, Micrognathia, Cyanosis, Cryptorchidism, Thin upper lip ve... ORPHA:3304
Ververi-Brady Syndrome
Broad nasal tip, Bulbous nose, Prominent nose, Thin upper lip vermilion, Smooth philtrum, Transpo... OMIM:617982
Microphthalmia/Coloboma 5
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Abnormal heart morphology, Intestinal malrotation, Limited elbow extension and supin... ORPHA:401935
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Small hand, Abnormal heart valve morphology, Mitral valve prolapse, Joint hypermobility, Clinodac... ORPHA:2868
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Bulbous nose, Open mouth, Cryptorchidism, Patent foramen ovale, Transposi... OMIM:616789
Birk-Aharoni Syndrome
Long nasal bridge, Muscular ventricular septal defect, Micrognathia, Cryptorchidism, Macrocytic a... OMIM:620071
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Ventricular septal defect, Jejunal atresia, Brachydactyly, Short mid... ORPHA:391646
Ellis Van Creveld Syndrome
Acute leukemia, Synostosis of carpal bones, Abnormality of the ureter, Genu valgum, Ventricular s... ORPHA:289
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Abnorma... ORPHA:2257
Lethal Congenital Contracture Syndrome 10
Long philtrum, Micrognathia, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, O... OMIM:617022
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec... OMIM:614326
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... OMIM:618845
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Abnormal heart morphology ORPHA:91412
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Mitral valve prolapse, Ventricular septal defect, Talipes eq... OMIM:180849
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia o... ORPHA:3266
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... ORPHA:95430
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... OMIM:253300
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Atrial septal defect, Brachydactyl... ORPHA:52056
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Abnormal hand morphology, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic v... ORPHA:228190
Lissencephaly Syndrome, Norman-Roberts Type
Wide nasal bridge, Microretrognathia, Patent foramen ovale, Atrial septal defect, Hypoplastic spl... ORPHA:89844
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Cervical ribs, Genu valgum, Sin... OMIM:617927
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricular septal defect, ... OMIM:614262
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Bruising susceptibility, Striae distensae, Petechiae, Mitral valve pro... OMIM:225310
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Hepat... OMIM:613095
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Depressed nasal bridge, Broad nasal tip, Ventricular septal defect, Thin upper lip vermilion, Ove... OMIM:601927
Sweeney-Cox Syndrome
Short distal phalanx of finger, Gastroesophageal reflux, Velopharyngeal insufficiency, Median cle... OMIM:617746
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Anteverted nares, Gingival overgrowth, Median cleft palate, ... ORPHA:1832
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va... OMIM:604381
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... OMIM:615382
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Edema, Muscular ventricular septal defect, Hypop... OMIM:212093
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Pos... ORPHA:75389
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Ciliary Dyskinesia, Primary, 44
Recurrent sinusitis, Bronchiectasis, Heterotaxy OMIM:618781
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Skin ulcer, Gastrointestina... ORPHA:91138
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Intestinal... OMIM:243150
Congenital Factor Xiii Deficiency
Gingival bleeding, Inflammation of the large intestine, Poor wound healing, Prolonged bleeding af... ORPHA:331
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Microcytic anemia, Gastrointesti... ORPHA:903
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Epiphyseal stippling, Ventricular ... OMIM:614876
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Small thenar eminen... OMIM:607323
Chromosome 6Q24-Q25 Deletion Syndrome
Small hand, Prominent fingertip pads, Sandal gap, Mitral valve prolapse, Dysplastic tricuspid val... OMIM:612863
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Marden-Walker Syndrome
High, narrow palate, Joint contracture of the hand, Pulmonary hypoplasia, Congenital contracture,... OMIM:248700
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Tetralogy of Fallot, Malar flattening, Abnor... ORPHA:1919
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Recurrent respirat... OMIM:615444
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Mesomelia, Abnormality of the dentition, Broad nasal tip, Long philtrum, Antev... OMIM:618529
Triploidy
Intestinal malrotation, Abnormality of the gallbladder, Micrognathia, Narrow mouth, Cryptorchidis... ORPHA:3376
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Clinodactyly, Renal agenesis, Ventricular septal defect, Trun... OMIM:615583
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Everted lower lip vermilion, Convex nasal ridge, Short nose... ORPHA:1695
Frontonasal Dysplasia 1
Wide nasal bridge, Bifid nasal tip, Joint contracture of the hand, Broad nasal tip, Hypoplasia of... OMIM:136760
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Nodular regenerative hyperplasia of liver, Portal hypertension, Petechiae, Splenomegal... OMIM:619463
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Wide nasal bridge, Gastroesophageal reflux, Carious teeth, Downturned corners of mouth, Multiple ... OMIM:620070
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Short distal phalanx of... ORPHA:1248
Thoracoabdominal Syndrome
Cleft upper lip, Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arte... OMIM:313850
Skraban-Deardorff Syndrome
Right aortic arch, Cleft palate, Ventricular septal defect OMIM:617616
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Ventricular septal defect, Bilateral c... OMIM:601357
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
8p23.1 deletion syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricula... DECIPHER:39
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Ventricular septal defect, 2-3 toe synd... OMIM:608572
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:606763
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Hamartoma of tongue, Absent gallbladder, ... OMIM:617925
Chromosome 9P Deletion Syndrome
Micrognathia, Narrow mouth, Ventricular septal defect, Atrial septal defect, High palate, Patent ... OMIM:158170
Developmental And Epileptic Encephalopathy 66
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... OMIM:618067
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... ORPHA:99125
Trisomy 1Q
Depressed nasal bridge, Microretrognathia, Camptodactyly of finger, Narrow mouth, Congenital diap... ORPHA:261344
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux... OMIM:301111
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Omphalocele, Thi... ORPHA:1906
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia OMIM:600776
Trisomy 13
High, narrow palate, Abnormality of the dentition, Long philtrum, Abnormal lung lobation, Anophth... ORPHA:3378
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Petechiae, Splenomegaly, Multiple gastric polyps, Hepatomeg... OMIM:225750
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... ORPHA:2255
Hydrolethalus Syndrome 1
Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Abnormal lung lobation, Comp... OMIM:236680
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomeno... OMIM:300845
Houge-Janssens Syndrome 3
Broad nasal tip, Umbilical hernia, Muscular ventricular septal defect, Inguinal hernia, Short phi... OMIM:618354
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Petechiae, Follic... OMIM:603909
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Macrodontia, High palate, Short foot, Short nose OMIM:300577
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Ventricular septal defect... OMIM:146510
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Mitral valve prolapse, Talipes equinova... OMIM:211960
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal ... OMIM:609029
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Retrognathia, Underdeveloped nasal alae, Abnormal lung lobation, Abnormal he... OMIM:263210
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Camptodactyly of finger, Abnormality of the ureter, Congenital diaphragmatic h... ORPHA:2311
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Elevated circulating aspartate ... OMIM:614034
Immune Dysregulation, Autoimmunity, And Autoinflammation
Gingival bleeding, Epistaxis, Cervical lymphadenopathy, Petechiae, Ecchymosis, Anemia, Inguinal l... OMIM:620514
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Unilateral radial... ORPHA:476126
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Coarctation of aorta, Cirrhosis, Atrial septal def... ORPHA:101028
Desmosterolosis
Bifid uvula, Micromelia, Renal agenesis, Intestinal malrotation, Splenomegaly, Submucous cleft ha... ORPHA:35107
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, H... OMIM:609053
Fucosidosis
Depressed nasal bridge, Bruising susceptibility, Recurrent respiratory infections, Cherry red spo... OMIM:230000
Noonan Syndrome 3
Pectus carinatum, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, ... OMIM:609942
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal hip bone morphology, Vesicoureteral reflux, Congenital diaphragmati... ORPHA:1166
Mungan Syndrome
Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduodenum, Vesicoureteral ... OMIM:611376
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... ORPHA:2260
Boudin-Mortier Syndrome
Clinodactyly, Pseudoepiphysis of the 1st metacarpal, Long hallux, Mallet finger, Pseudoepiphyses ... OMIM:619543
Acropectoral Syndrome
Abnormal thorax morphology, Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Microphallus... OMIM:603467
Microphthalmia With Limb Anomalies
Flared nostrils, Depressed nasal bridge, Finger aplasia, Camptodactyly of 2nd-5th fingers, Retrog... OMIM:206920
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Hypospadias, Situs inversus totalis, Renal dysplasia OMIM:615985
Donnai-Barrow Syndrome
Depressed nasal bridge, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia... ORPHA:2143
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... ORPHA:84064
Floating-Harbor Syndrome
Broad thumb, Atrial septal defect, Broad fingertip, Celiac disease, Dislocated radial head, Hypos... OMIM:136140
Vacterl Association With Hydrocephalus
Renal hypoplasia, Absent thumb, Abnormal heart morphology, Radial club hand, Anal atresia OMIM:276950
Floating-Harbor Syndrome
Dilatation of the renal pelvis, Clinodactyly, Atrial septal defect, Broad fingertip, Celiac disea... ORPHA:2044
Fadd-Related Immunodeficiency
Hepatic fibrosis, Pulmonary artery atresia, Decreased liver function, Ventricular septal defect ORPHA:306550
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Flexion contracture, Ventricular septal defect OMIM:619306
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival bleeding, Atypical scarring of skin, Periodontitis, Bruising susceptibility, Umbilical h... OMIM:617174
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Anophthalmia Plus Syndrome
Tessier cleft, Choanal atresia, Anophthalmia, Bilateral cleft palate, Abnormal nasal morphology, ... ORPHA:1104
C Syndrome
Wide nasal bridge, Micromelia, Anteverted nares, Micrognathia, Cryptorchidism, Thick anterior alv... OMIM:211750
Hamamy Syndrome
Wide nasal bridge, Dental malocclusion, Long philtrum, Anteverted nares, Micrognathia, Complete a... OMIM:611174
8Q24.3 Microdeletion Syndrome
Ventricular septal defect, Short hallux, Abnormality of the kidney, Dysplastic aortic valve, Hypo... ORPHA:508488
Stromme Syndrome
Accessory spleen, Bilateral renal hypoplasia, Preaxial polydactyly, Intestinal malrotation, Myopa... OMIM:243605
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Fryns Syndrome
Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Anal atresia, Hyp... OMIM:229850
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Primary Myelofibrosis
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Pallor, Petech... ORPHA:824
Cutaneous Small Vessel Vasculitis
Vasculitis, Erythema, Cutis marmorata, Abnormal oral cavity morphology, Purpura, Urticaria ORPHA:889
Sonoda Syndrome
High axial triradius, Ventricular septal defect OMIM:270460
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Distal Deletion 19P
Umbilical hernia, Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, Long toe, ... ORPHA:96129
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Sotos Syndrome
High, narrow palate, Depressed nasal bridge, Gastroesophageal reflux, Broad nasal tip, Enlarged n... OMIM:117550
Maternal Phenylketonuria
Hypoplastic left heart, Wide nasal bridge, Long philtrum, Abnormal heart morphology, Tetralogy of... ORPHA:2209
Nemaline Myopathy 9
Polyhydramnios, Narrow chest, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Congenital Syphilis
Pneumonia, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatosplenomegaly, Palmopla... ORPHA:499009
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Anomalous origin of left cor... ORPHA:2326
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Broad hallux, Renal agenesis, Radioulnar synostosis, Pulmonic stenosis, Hypopla... OMIM:212780
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Mediastinal lymphadenopathy, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion OMIM:234810
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Ventricular ... ORPHA:2461
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal defect OMIM:235750
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate ORPHA:718
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ... OMIM:618955
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Ventricular septal defect, Duplication of phalanx of hallux, Atrial se... OMIM:263630
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Broad nasal tip, Bulbous nose, Anteverted nares, Prominent nasal bridge, Anophthalmia, Everted lo... ORPHA:411986
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Single transverse palmar crease, Hepato... OMIM:619053
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Cryptorchidism, Ventricular septal defect, Patent ductus arteriosus, Short nose, Cl... OMIM:616894
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Postaxial foot polydactyl... OMIM:267010
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Single transverse palmar crease, Ventricular septal de... OMIM:618619
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather... ORPHA:494424
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micromelia, Micrognathia, Anopht... ORPHA:2189
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Elbow dislocation, Abnormality of the spleen, Esophagitis, Perineal... ORPHA:2538
Weiss-Kruszka Syndrome
Abnormal heart morphology, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:502430
Vater/Vacterl Association
Ventricular septal defect, Radioulnar synostosis, Absent radius, Anal atresia, Hypospadias, Renal... OMIM:192350
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Absent thumb, Polysplenia, Hypoplasia of the radius, Abnormal radial ray morpho... OMIM:617784
Mosaic Trisomy 1
Wide nasal bridge, Depressed nasal bridge, Short upper lip, Microretrognathia, Camptodactyly of f... ORPHA:1692
9q subtelomeric deletion syndrome
Abnormal heart morphology, Anteverted nares, Protruding tongue, Short nose DECIPHER:52
Distal Duplication 5Q
Carious teeth, Absent thumb, Long philtrum, Prominent nasal bridge, Micrognathia, Cryptorchidism,... ORPHA:96097
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Long philtrum, Tetralogy of Fallot, Congenital diaphragmatic hernia, Atr... OMIM:300887
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose ORPHA:1355
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Situs inversus tota... OMIM:249270
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Ventricular septal defect, Short palm, Hepatomegaly, Short foot, Patent duc... OMIM:269860
Joubert Syndrome 18
Horseshoe kidney, Trident pelvis, Ventricular septal defect, Bowing of the long bones, Talipes eq... OMIM:614815
Thakker-Donnai Syndrome
Downturned corners of mouth, Tetralogy of Fallot, Bulbous nose, Anteverted nares, Narrow mouth, C... ORPHA:1780
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Ventricular septa... OMIM:312870
Chromosome 22Q11.2 Deletion Syndrome, Distal
Underdeveloped nasal alae, Malar flattening, Truncus arteriosus, Thin upper lip vermilion, Smooth... OMIM:611867
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Micromelia, Abnormality of the ureter, Genu valgum, Arachnodactyly, Atrial septal def... ORPHA:1035
Distal Duplication 15Q
Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Prominent nasal bridge, Micr... ORPHA:1707
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Postaxial foot polydactyly, Bicuspid aortic valve, Atrial septal defect, ... OMIM:615981
Mirage Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Lymphopenia, Decreased testicular size, Adrenal in... OMIM:617053
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Horseshoe kidney, Overlapping toe, Clino... ORPHA:221120
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Renal hypoplasia, Camptodactyly of finger, Abnormality of the wri... ORPHA:3138
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... ORPHA:1880
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Leukopenia, P... ORPHA:99828
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Xk Aprosencephaly Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Microphthalmia, Abnormal nostril m... ORPHA:3469
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Bifid distal phalanx of toe, Unilateral renal agenesis, Cutaneous finger syndac... OMIM:618419
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Umbilical hernia, Intestinal malrotation, Abnormal lung lobation, M... ORPHA:2166
Cranioectodermal Dysplasia 2
Clinodactyly, Cholestasis, Atrial septal defect, Hepatomegaly, High palate, Bile duct proliferati... OMIM:613610
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphrag... ORPHA:373
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Atrial septal defe... ORPHA:93946
Lower Limb Malformation-Hypospadias Syndrome
Abnormal tibia morphology, Abnormality of the spleen, Hypospadias, Abnormality of the ureter ORPHA:2487
Focal Dermal Hypoplasia
Erythema, Open bite, Congenital diaphragmatic hernia, Ventricular septal defect, Hernia, Abnormal... ORPHA:2092
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon... ORPHA:199241
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Abnormal heart morphology, Congenital diap... ORPHA:261197
Chime Syndrome
Erythema, Depressed nasal ridge, Aplasia/Hypoplasia of the phalanges of the toes, Aplastic clavic... ORPHA:3474
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Cleft upper lip, Anophthalmia, Midnasal stenosis, Prominent median pala... OMIM:147250
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cutaneous photosensitivity, Microphthalmia, Arthrogryposis multiplex congenita, Cle... OMIM:616570
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis ORPHA:251076
Tetraamelia Syndrome 2
Ankyloglossia, Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins, M... OMIM:618021
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Recurrent pneumonia, Abnormal... ORPHA:1329
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Sandal gap, Joint contracture of the 5th finger, Joint contracture of the 4th f... OMIM:618914
Lowry-Maclean Syndrome
Abnormal heart morphology, Cleft palate, Delayed eruption of teeth, Convex nasal ridge OMIM:600252
Absence Of The Pulmonary Artery
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Abnormal hemidiaphragm ... ORPHA:980
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Neutropenia, Hepatomegaly, Recurrent... OMIM:612541
Renpenning Syndrome
High, narrow palate, Broad columella, Macrodontia, Prominent nose, Narrow mouth, Malar flattening... ORPHA:3242
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Pleural effusion, Petechiae, Thrombocytopenia, Cerebral hemorrhage... OMIM:617397
Li-Campeau Syndrome
Patellar hypoplasia, Single transverse palmar crease, Patent foramen ovale, Ventricular septal de... OMIM:619189
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Renal agenesis, Abnormal lung lobation, Abno... ORPHA:2516
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leu... ORPHA:906
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Ventricular septal defect, Talipes equinovarus, Radioulnar synostosis, Sho... OMIM:194190
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Bro... OMIM:175700
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Abnormal cranial nerve morphology, Ventricular septal defect, Cervi... ORPHA:2345
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Glossitis, Talipes equino... OMIM:277380
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Ventricular septal d... ORPHA:2473
Oculocerebrocutaneous Syndrome
Cleft ala nasi, Anophthalmia, Cleft palate, Microphthalmia OMIM:164180
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ... ORPHA:280779
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Hepatic failure, Secundum atrial septal defect, Oligodactyly, Absence of renal ... OMIM:619758
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Notched primary central incisor, Hydrocele testis OMIM:620062
Atrial Septal Defect, Sinus Venosus Type
Stroke, Right ventricular dilatation, Anomalous pulmonary venous return ORPHA:99105
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,... ORPHA:90652
Esophageal Atresia
Esophagitis, Abnormal gastrointestinal tract morphology, Ventricular septal defect, Dysphagia, Du... ORPHA:1199
Holoprosencephaly
Abnormality of the spleen, Congenital diaphragmatic hernia, Anophthalmia, Ventricular septal defe... ORPHA:2162
Emanuel Syndrome
Aortic valve stenosis, Congenital hip dislocation, Unilateral renal agenesis, Renal hypoplasia, G... ORPHA:96170
Developmental Delay With Or Without Dysmorphic Facies And Autism
Supernumerary nipple, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular ... OMIM:618454
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Dry skin, Open mouth, Ventricular septal defect, Everted lower lip... OMIM:280000
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Hypothyroidism, Congenital, Nongoitrous, 4
Depressed nasal bridge, Umbilical hernia, Dry skin, Decreased circulating T4 concentration, Hypot... OMIM:275100
Stormorken Syndrome
Epistaxis, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, ... OMIM:185070
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Abnormal umbilical stump bleeding, Prolon... OMIM:613235
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormal bleeding, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepat... OMIM:612840
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho... OMIM:155050
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Joint hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... OMIM:613225
Boutonneuse Fever
Vasculitis, Cervical lymphadenopathy, Leukopenia, Petechiae, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Dilatation of the renal pelvis, Cholestasi... OMIM:619534
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:300991
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Single transverse palmar crease, Ventricular septal defect, Clinodactyly of the 5th f... OMIM:619717
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Gastroeso... OMIM:600987
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septa... OMIM:618506
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def... OMIM:620210
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short 4th metacarpal, Type E brachydactyly, Short metatarsal, Atrial septal defect OMIM:113301
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Aplasia of posterior communicating artery, Myelomenin... OMIM:613686
Poland Syndrome
Acute leukemia, Small hand, Finger syndactyly, Ureterocele, Congenital diaphragmatic hernia, Rena... ORPHA:2911
Opitz Gbbb Syndrome
Aortic root aneurysm, Natal tooth, Ankyloglossia, Micrognathia, Congenital diaphragmatic hernia, ... ORPHA:2745
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Wide nasal bridge, Precocious puberty, Contractures of the large joints, Ret... ORPHA:96092
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max... ORPHA:66625
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Cryptorchidism, Ventricular septal defect, Tracheoesophageal fist... ORPHA:77298
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Ventricular septal defect, Abnormal metacarpal morphology, Atrial septal defect, Ab... OMIM:268300
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Postaxial polydacty... OMIM:603387
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Dry skin, Congenital hypothyroidism, Increased T3/T4 ratio, Omphalocel... OMIM:614450
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Hypoplastic scapulae, Short distal phalanx of finger, Pulmonary hypoplasia, Mic... OMIM:614091
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog... ORPHA:1842
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Cutis marmorata, Ventricular septal defect, Hernia, Smooth philtrum, Micr... OMIM:602501
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Johanson-Blizzard Syndrome
Anteriorly placed anus, Exocrine pancreatic insufficiency, Hydronephrosis, Anal atresia, Abnormal... ORPHA:2315
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Depressed nasal bridge, Micromelia, Long philtrum, Short ribs, Ventricular septal defect, Hypopla... OMIM:617895
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Abnormal heart morph... OMIM:247200
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Deviation of finger, Abnormal tricuspid valve morphology, Joint hyper... ORPHA:2412
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Micromelia, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Postaxial hand... OMIM:200995
Alagille Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy... OMIM:118450
3P25.3 Microdeletion Syndrome
Micrognathia, Ventricular septal defect, Atrial septal defect, Microphthalmia, Patent ductus arte... ORPHA:435638
Feingold Syndrome Type 1
Toe syndactyly, Multiple muscular ventricular septal defects, Abnormality of the kidney, Anal atr... ORPHA:391641
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Intestinal malrotation, Hypoplasia of ... OMIM:222448
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Abnormality of thyroid physiology, Inguinal hernia, Cryptorchidism, Testicul... OMIM:615542
Tick-Borne Encephalitis
Stiff neck, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphology, Abnorm... ORPHA:297
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Bilateral cryptorchidism, Prominent nasal bridge, Patent foramen ova... OMIM:618652
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia i... ORPHA:1959
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Temple-Baraitser Syndrome
Short distal phalanx of finger, Broad thumb, Broad hallux, Long hallux, Pseudoepiphysis of the th... OMIM:611816
Trigonocephaly 1
High, narrow palate, Wide nasal bridge, Meckel diverticulum, Long philtrum, Omphalocele, Short nose OMIM:190440
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Increased mean corpuscular volume, Short thumb, Persistence... OMIM:612561
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect OMIM:620203
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect, Clinodactyly ... ORPHA:2515
Tetralogy Of Fallot
Tetralogy of Fallot, Clinodactyly of the 5th finger OMIM:187500
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Total anomalous pulmonary venous return, Unilateral renal agenesis, Clinodactyly, Ab... ORPHA:487796
Snakebite Envenomation
Gingival bleeding, Erythema, Epistaxis, Neuromuscular dysphagia, Abnormal bleeding, Angioedema, P... ORPHA:449285
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Retrognathia, Muscular ventricular septal defect, Submucous cleft hard palate, T... OMIM:619227
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Omphalocele, Cleft palate OMIM:258320
Congenital Rubella Syndrome
Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Anemia, Atrial sept... ORPHA:290
Miller-Dieker Syndrome
Anteverted nares, Abnormal upper lip morphology, Omphalocele, Short nose ORPHA:531
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Renal hypoplasia, Bifid uvula, Vesicoureteral refl... OMIM:617660
Oculofaciocardiodental Syndrome
Tooth malposition, Mitral valve prolapse, Microphthalmia, Patent ductus arteriosus, Submucous cle... ORPHA:2712
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Cardiomyopathy, Decreased liver function, Renal insufficiency, Hepatic steatosi... OMIM:614922
Tetralogy Of Fallot
Tetralogy of Fallot, Abnormal nasal morphology, Cryptorchidism, Thin vermilion border ORPHA:3303
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Avascular necrosis ... OMIM:611555
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Elevated circul... OMIM:300972
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Hip dislocation, Narrow chest, Flared metap... OMIM:309350
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of finger, Anteverted nares, Micrognathia, Narrow mouth, Open mouth, Microdo... OMIM:619356
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Micrognathia, Bicuspid aortic valve, Atrial septal defect, Microphthalmia, High palate, Patent du... OMIM:612474
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:608644
Chromosome 3Pter-P25 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Downturned corners of mouth, Long phi... OMIM:613792
Catel-Manzke Syndrome
Narrow naris, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Overriding a... OMIM:616145
8Q12 Microduplication Syndrome
Short foot, Abnormal cranial nerve morphology, Atrial septal defect, Ventricular septal defect ORPHA:228399
White Forelock With Malformations
Finger syndactyly, Joint hypermobility, Spina bifida occulta, Sprengel anomaly, Atrial septal def... ORPHA:2475
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Atrial septal defect, Pulmonary sequestration, Hypospadias, Patent duc... OMIM:618330
Bilateral Polymicrogyria
Talipes equinovarus, Arthrogryposis multiplex congenita, Facial diplegia, Abnormal glossopharynge... ORPHA:268940
Glossopharyngeal Neuralgia
Schwannoma, Abnormal glossopharyngeal nerve morphology, Cranial nerve compression ORPHA:221098
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Ventricular septal defect, Bicuspid aortic valve, Broad phalanx, Hy... ORPHA:508498
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Transient ischemic attack, Anomalous origin of the left common carotid artery from the... ORPHA:99104
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Recurrent respiratory infections, Median cleft palate, Microphthalmia ORPHA:2432
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Patent ... OMIM:620024
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Petechiae, Splenomegaly, Lymphadenopat... ORPHA:79477
Alg12-Cdg
Biventricular hypertrophy, Micrognathia, Cryptorchidism, Recurrent pharyngitis, Patent ductus art... ORPHA:79324
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect OMIM:619881
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Wide nasal bridge, ... OMIM:301022
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Wide nasal bridge, Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Long philtru... ORPHA:404440
3C Syndrome
Aortic valve stenosis, Micrognathia, Abnormal mitral valve morphology, Ventricular septal defect,... ORPHA:7
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Arthrogryposis-like hand anomaly, Depressed nasal bridge, Downturned corners o... ORPHA:369891
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Gastroesophageal reflux, Micrognathia, Median cleft palate, Submucous cle... OMIM:301043
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Joint hypermobility, Arachnodactyly, Tricuspid valve prolapse, Cur... ORPHA:276413
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Abnormal localization of kidney, Abnormal cardiac septum morphology, ... ORPHA:83473
Contractural Arachnodactyly, Congenital
Hip contracture, Mitral valve prolapse, Ventricular septal defect, Arachnodactyly, Bicuspid aorti... OMIM:121050
Adenylosuccinate Lyase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:46
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Mosaic Trisomy 20
Narrow chest, Clinodactyly, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventric... ORPHA:1724
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Absent gallbladder, Missing ribs, Aplasia/Hypoplasia of the thumb, Overridin... ORPHA:3186
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Bruising susceptibility, Hemophagocytosis, Petechiae, Splenomegaly, Ec... ORPHA:540
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Aplasia/Hypoplasia... ORPHA:1046
Perlman Syndrome
High, narrow palate, Wide nasal bridge, Retrognathia, Abnormal pancreas morphology, Anteverted na... ORPHA:2849
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Pulmonary hypoplasia, Rhizomelia, Natal tooth, Short tibia, Microretrog... OMIM:616300
Microphthalmia, Syndromic 2
Aortic valve stenosis, Anophthalmia, Mitral valve prolapse, Ventricular septal defect, Contractur... OMIM:300166
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Increased nuchal transluc... OMIM:618870
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pancreatic cysts, Hepatosplenomegaly, Pleu... ORPHA:464329
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Single transverse palmar crease, 2-3 toe syndactyly, Talipes... OMIM:236500
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Unilateral renal agenesis, Ventricular septal defect, Truncus art... OMIM:601355
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Microphthalmia, High palate, Rectovaginal ... ORPHA:861
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Narrow mouth, Abnormal cardiac septum morphology, Short nose ORPHA:2370
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Atrioventricular canal defect, Distal urethral duplication, Vesicouret... ORPHA:2549
Drug-Induced Lupus Erythematosus
Petechiae, Anemia, Thrombocytopenia, Pericardial effusion, Pericarditis ORPHA:231111
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Persistent bleeding after trau... OMIM:609821
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Thin u... ORPHA:477817
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Bilateral single ... ORPHA:3033
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Tufted Angioma
Hemangioma of the lip, Petechiae, Thrombocytopenia, Anemia, Purpura ORPHA:1063
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Elevated ci... OMIM:614576
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegal... ORPHA:158029
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Ascites, Mitral valve prola... ORPHA:2848
Complement Component 4A Deficiency
Vasculitis, Cutaneous photosensitivity, Purpura OMIM:614380
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial sept... ORPHA:567
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Abnormal heart mor... OMIM:614954
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Occipital meningocele, Short r... OMIM:616546
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Cleft palate OMIM:249710
Fetal Alcohol Syndrome
Anteverted nares, Micrognathia, Congenital diaphragmatic hernia, Microdontia, Thin upper lip verm... ORPHA:1915
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mo... ORPHA:3098
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Atrial septal defect, Pectus excavatum, Pul... OMIM:618499
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Unilateral renal agenesis, Renal hypoplasia, Aortic root aneurysm, Lymph... OMIM:620654
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Coarctation of aorta, Dextrocardia, Micropenis, High palate OMIM:618929
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... OMIM:115197
Chromosome 10Q26 Deletion Syndrome
Flared nostrils, Wide nasal bridge, Long philtrum, Prominent nose, Micrognathia, Cryptorchidism, ... OMIM:609625
Grange Syndrome
Increased susceptibility to fractures, Ventricular septal defect, Patent ductus arteriosus, Short... ORPHA:79094
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Cardiomyopathy, Abnormalit... ORPHA:2842
Abruzzo-Erickson Syndrome
Ulnar deviation of finger, Toe syndactyly, Short toe, Radioulnar synostosis, Atrial septal defect... ORPHA:921
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor... ORPHA:2306
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Tetralogy of Fallot, Partial diaphragmatic absence of pericardium, Abnormal ... ORPHA:2847
Temtamy Syndrome
Short toe, Thick lower lip vermilion, Micrognathia, Abnormal palate morphology, Aortic aneurysm, ... ORPHA:1777
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
Leopard Syndrome 1
Unilateral renal agenesis, Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, M... OMIM:151100
Isolated Atp Synthase Deficiency
Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduri... ORPHA:254913
Fibrochondrogenesis 1
Depressed nasal bridge, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Rhizomel... OMIM:228520
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Toe syndactyly, Renal agenesis, Bowing of the long bones, Radioulnar synostosis... ORPHA:171839
Lowry-Maclean Syndrome
High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Talon cusp, Abnormality of the a... ORPHA:2409
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Anorectal anomaly, Bilateral l... ORPHA:49
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Ankyloglossia, Brachydactyly, Micropenis, Asplenia, Hypopla... OMIM:602361
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Tetrasomy 15Q26
Horseshoe kidney, Arachnodactyly, Hydronephrosis, Atrial septal defect, High palate, Camptodactyl... OMIM:614846
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Tooth agenesis, Inguinal hernia, Abnormal... ORPHA:1135
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Hepatic steatosis, Ventricular septal defect, Cirrho... OMIM:270400
Cofs Syndrome
Wide nasal bridge, Camptodactyly of finger, Hypogonadism, Micrognathia, Cutaneous photosensitivit... ORPHA:1466
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Ventricular septal ... ORPHA:2876
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Depressed nasal bridge, Abnormal B cell morphology, Broad nasal tip, Cleft lip, Decreased respons... OMIM:618223
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Anteverted nares, Amelia, Congenital diaphragmatic hernia, Omphalocele, T... OMIM:601163
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage,... ORPHA:335
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Cutis marmorata, Congenital diaphragmatic hernia, Cryptorchi... OMIM:617602
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Duodenal stenosis, Micrognathia, Microphthalmia, Patent ductus arteriosu... ORPHA:2547
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Short nose, Wide nose OMIM:125700
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... ORPHA:274
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Clinodactyly, Lymphopenia, Vesicoureteral reflux, Patent foramen ovale, Patent ... OMIM:618460
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Single transverse palmar cr... OMIM:617866
Congenital Myopathy 11
Elevated circulating hepatic transaminase concentration, Patent foramen ovale, Weakness of facial... OMIM:619967
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial... OMIM:613870
Weill-Marchesani Syndrome
Aortic valve stenosis, Limitation of joint mobility, Short thumb, Ventricular septal defect, Brac... ORPHA:3449
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Anemia, Purpura OMIM:604250
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Long philtrum, Ventricular septal defect, Thin upper lip vermilion, Bicuspi... OMIM:616652
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Pectus carinatum, Mitral valve prolapse, Joint hypermobili... ORPHA:284979
Turnpenny-Fry Syndrome
Pectus carinatum, Small hand, Narrow chest, Clinodactyly, Overlapping toe, Long thorax, Mitral va... OMIM:618371
Campomelia, Cumming Type
Polysplenia, Bowing of the long bones, Pancreatic cysts, Polycystic kidney dysplasia, Polycystic ... OMIM:211890
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Abnormal palate morphology ORPHA:1450
Carpenter Syndrome 2
Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, Atrial septal defect, Dextrocardia... OMIM:614976
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... OMIM:231200
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Cholestasis, Dry skin, Hepatosplenomegaly, Cleft soft palate, Micrognathia, Reduced sub... OMIM:619503
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620032
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Anemia, M... OMIM:187800
Bardet-Biedl Syndrome 16
Bronchiolitis, Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly, ... OMIM:615993
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Genu va... OMIM:615630
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ventricular septal defect, Dislocated radial head, High palate, ... OMIM:122470
Pierpont Syndrome
Broad nasal tip, Short toe, Widely spaced teeth, Short finger, Prominent median palatal raphe, Ma... OMIM:602342
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/hypoplasia of the humerus, Congenital diaphragmatic her... ORPHA:2141
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri... OMIM:616898
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... OMIM:274000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Retrognathia, Leukopenia, Cryptorchidism, Redundant neck skin, Ventricular septal def... OMIM:301056
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Subaortic Stenosis-Short Stature Syndrome
Anteverted nares, Micrognathia, Type II diabetes mellitus, Inguinal hernia, Biliary tract abnorma... ORPHA:3191
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi... OMIM:620511
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening, Choanal stenosi... OMIM:241310
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Prolonged bleeding time,... OMIM:614201
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, B... ORPHA:371428
Cardioacrofacial Dysplasia 2
Postaxial foot polydactyly, Atrioventricular canal defect, Genu valgum, Clinodactyly of the 5th f... OMIM:619143
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis OMIM:615872
Congenital Heart Defects And Ectodermal Dysplasia
Depressed nasal bridge, Widely spaced teeth, Atrioventricular canal defect, Anteverted nares, Pro... OMIM:617364
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Abnormality of the ureter, Bilateral single transverse palmar creases, Ventricular s... ORPHA:1770
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular sept... OMIM:107480
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis OMIM:615451
Thanatophoric Dysplasia
Abnormal ilium morphology, Narrow chest, Micromelia, Short thorax, Joint stiffness, Increased nuc... ORPHA:2655
Trisomy 18
Choanal atresia, Microretrognathia, Camptodactyly of finger, Short nose, Narrow mouth, Congenital... ORPHA:3380
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal lung morphology, Meckel diverticulum, Duodenal atresia, Abnormal... ORPHA:141127
Roifman Syndrome
Recurrent pneumonia, Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Ventr... OMIM:616651
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Microcytic anemia, Upper limb asymmetry, Abnormal tricuspid valve mo... ORPHA:90308
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Nephrotic syndrome, Cholest... ORPHA:52
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Clinodactyly, Patent foramen ovale, Brachydactyly, Osteolysis involvi... ORPHA:88630
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Increased RBC... OMIM:187900
German Syndrome
Wide nasal bridge, Depressed nasal bridge, Arthrogryposis multiplex congenita, Camptodactyly of f... ORPHA:2077
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Micromelia, Ventricular septal defect, Decreased calvarial ossification, ... ORPHA:2772
Alg9-Cdg
Micrognathia, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Short nose, Gastroes... ORPHA:79328
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Transposition of the great a... OMIM:253800
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Erythema, Recurrent aphthous stomatitis, Intestinal obst... ORPHA:343
Desbuquois Syndrome
Small hand, Elbow dislocation, Camptodactyly of finger, Bell-shaped thorax, Ventricular septal de... ORPHA:1425
Aortic Arch Interruption
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:2299
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Nasal polyposis, Gastroesophageal reflux, Recurrent intrapulmonary hemorrhage, Hypert... ORPHA:183
Noonan Syndrome 12
Tetralogy of Fallot, 11 pairs of ribs, Ventricular septal defect, Polyhydramnios, Pectus excavatu... OMIM:618624
Anti-Glomerular Basement Membrane Disease
Anemia, Vasculitis, Persistence of primary teeth, Purpura ORPHA:375
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Renal hypoplasia, Short iliac bones, Acetabular spurs, Stage 5 chronic kidney disease... OMIM:614376
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Carpal synostosis, Muscular ventricular septal defect, Fusion of middle ea... OMIM:157800
Acrocardiofacial Syndrome
Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis,... ORPHA:2008
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... ORPHA:1457
Periventricular Nodular Heterotopia 7
Microretrognathia, Dental crowding, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:617201
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Anorectal anomaly, Abnormality of the spleen, Micrognathia, Abnormality ... ORPHA:1834
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Frank-Ter Haar Syndrome
Micrognathia, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, High palate... OMIM:249420
Thanatophoric Dysplasia Type 2
Narrow chest, Limitation of joint mobility, Micromelia, Short thorax, Increased nuchal translucen... ORPHA:93274
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Hypogonadism, Narrow mouth, Microphthalmia, High palate ORPHA:2528
Diets-Jongmans Syndrome
Broad nasal tip, Umbilical hernia, Congenital diaphragmatic hernia, Heterotaxy, Ventricular septa... OMIM:618846
Specc1L-Related Hypertelorism Syndrome
Wide nasal bridge, Short toe, Long philtrum, Umbilical hernia, Tetralogy of Fallot, Prominent nas... ORPHA:1519
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Retrognathia, Open mouth, Malar flattening, Short nose OMIM:613670
Clark-Baraitser Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Exaggerated... OMIM:617752
Pierpont Syndrome
Short toe, Short finger, Widely spaced teeth, Excessive wrinkling of palmar skin, Malar flattenin... ORPHA:487825
Knobloch Syndrome
Bifid ureter, Vesicoureteral reflux, Dextrocardia, Lymphangioma, Patent ductus arteriosus, Pylori... ORPHA:1571
Livedoid Vasculopathy
Poor wound healing, Skin ulcer, Polycythemia, Macular purpura, Graves disease, Atrophic scars, Cu... ORPHA:542643
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall... OMIM:300963
Split-Hand/Foot Malformation 3
Renal hypoplasia, Split hand, Camptodactyly, High palate, Cleft palate OMIM:246560
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pericardium morphology, Abnor... ORPHA:2357
Okamoto Syndrome
Aortic valve stenosis, Exaggerated median tongue furrow, Open bite, Open mouth, Abnormal mitral v... ORPHA:2729
Lambert Syndrome
Cholestasis, Ventricular septal defect, Intrahepatic biliary atresia, Jaundice, Hypospadias ORPHA:1296
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Aminoaciduria, Nephrocalcinosis, El... OMIM:208085
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Short distal phalanx of finger, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:277450
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ... OMIM:614744
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Overlapping toe, Reduced bone mineral density, Atrial septal defect ORPHA:466926
Stevenson-Carey Syndrome
Joint contracture of the hand, Gastroesophageal reflux, Downturned corners of mouth, Underdevelop... OMIM:611961
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Malar flattening, Ventricular septal defect, Ectopic anus, Aplasia/H... ORPHA:94066
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl... OMIM:616730
Marshall-Smith Syndrome
Hypoplasia of the odontoid process, Aspiration pneumonia, Cryptorchidism, Irregular dentition, Ve... OMIM:602535
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Micrognathia, Long philtrum, Short nose ORPHA:2598
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Dysphagia, Patent... OMIM:616276
Acalvaria
Omphalocele, Cleft palate, Abnormal lung lobation ORPHA:945
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Duodenal stenosis, Horseshoe kidney, Vesicoureteral reflux, C... ORPHA:2470
Mirror Movements 3
Situs inversus totalis OMIM:616059
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal metacarpal morphology, Mitral valve prolapse, Abnormal morphology of ulna ORPHA:2233
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Gastroesophageal reflux, Clinodactyly, Broad hallux, Contracture of the proximal inte... OMIM:301044
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Ventricular septal def... OMIM:300373
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis... OMIM:614377
Intellectual Developmental Disorder, Autosomal Recessive 79
Slender finger, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th fi... OMIM:620393
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Abnormal hea... OMIM:617641
Mosaic Trisomy 16
Hypospadias, Short forearm, Pulmonary hypoplasia, Meckel diverticulum, Clinodactyly, Short thumb,... ORPHA:1708
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Cholelithiasis, Prominent nose, Prominence of the premaxilla, Double outlet ri... OMIM:614886
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis OMIM:614844
Peroxisome Biogenesis Disorder 2A (Zellweger)
Joint contracture of the hand, Abnormal heart morphology, Micrognathia, Cryptorchidism, Hypoplasi... OMIM:214110
Non-Syndromic Metopic Craniosynostosis
Wide nasal bridge, Omphalocele ORPHA:3366
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Wid... ORPHA:2429
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Preaxial hand polydactyly, Urinary bladder wall hypertrop... OMIM:601389
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... OMIM:113000
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Tooth malposition, Delayed eruption of... ORPHA:2484
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Long philtrum, Mitral valve prolapse, Short nose, Cleft palate ORPHA:90653
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pectus excavatum, R... OMIM:615279
Restrictive Dermopathy
Natal tooth, Micrognathia, Narrow mouth, Atrial septal defect, Dextrocardia, Patent ductus arteri... ORPHA:1662
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Abnormal platelet count, Bruising susceptibility, Ecchymosis OMIM:614009
Charge Syndrome
Lymphopenia, Unilateral microphthalmos, Micrognathia, Anophthalmia, Cryptorchidism, Ventricular s... OMIM:214800
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Abnormal heart morphology, Bulb... ORPHA:284169
Meningococcal Meningitis
Stroke, Increased circulating procalcitonin concentration, Purpura, Petechiae ORPHA:33475
Degcags Syndrome
Chronic kidney disease, Toe syndactyly, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegal... OMIM:619488
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Venous insufficiency,... ORPHA:743
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Branchial fistula, Optic disc coloboma, Camptodactyly of finger, Ventricular sept... ORPHA:261337
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Ventricular septal defect, Atrial septal defect, Clinodactyly of the 5th finger,... OMIM:618974
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Wide nasal bridge, Retrognathia, Long philtrum, Cleft upper lip, Anteverte... OMIM:243310
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal lymph node morphology, Hypogonadis... ORPHA:85450
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Omphalocele ORPHA:254534
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... OMIM:203300
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Decreased proportion of CD8-positive T ce... OMIM:301000
Aortic Aneurysm, Familial Thoracic 9
Arachnodactyly, Pectus carinatum, Pectus excavatum, Mitral valve prolapse OMIM:616166
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Narrow mouth, Cryptorchidism, Mitral valve prolapse, Fragile skin, Atrial septal defect, High pal... OMIM:601776
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Short 1st metacarpal, Bilateral renal agene... OMIM:620305
Pelger-Huet Anomaly
Giant platelets, Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Median cleft... OMIM:169400
Mosaic Trisomy 14
Wide nasal bridge, Anteverted nares, Prominent nasal bridge, Wide mouth, Micrognathia, Ectopic an... ORPHA:1703
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Abnormality of the gallbladder, Congenital diaphragmatic hernia... ORPHA:887
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Depressed nasal ridge, Joint contracture ... OMIM:256520
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse, Arachnodactyly, Talipes equinovarus, Joint hypermobi... OMIM:615539
Trisomy X
Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Atrial septal ... ORPHA:3375
Mass Syndrome
Arachnodactyly, Pectus carinatum, Mitral valve prolapse OMIM:604308
Suleiman-El-Hattab Syndrome
Clinodactyly, Patent foramen ovale, Polydactyly, Ventricular septal defect, Single transverse pal... OMIM:618950
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Cutis marmorata, Pancytopenia, Hepatosplenomegaly, Livedo racemosa, Oral ulcer, Hepa... OMIM:615688
Acromicric Dysplasia
Small hand, Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, Narrow mout... ORPHA:969
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb sh... ORPHA:2347
Pseudodiastrophic Dysplasia
Rhizomelia, Malar flattening, Omphalocele ORPHA:85174
Kapur-Toriello Syndrome
Intestinal malrotation, Tetralogy of Fallot, Bulbous nose, Ventricular septal defect, Orofacial c... ORPHA:2328
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Umbilical hernia, Bilateral cryptorchidism, Prominent nasal bridg... OMIM:613544
Woods Syndrome
Optic atrophy, Limited elbow extension, Single transverse palmar crease, Ventricular septal defec... OMIM:615236
Autosomal Recessive Amelia
Micrognathia, Amelia, Acromelia of the lower limbs, Orofacial cleft, Abnormal cardiac septum morp... ORPHA:1027
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... OMIM:300367
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Retrognathia, Downturned corners o... ORPHA:391372
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, He... ORPHA:809
Microphthalmia, Syndromic 8
Widely-spaced maxillary central incisors, Cleft upper lip, Premature skin wrinkling, Cryptorchidi... OMIM:601349
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Petechiae, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Camptodactyly, Lactic... OMIM:604273
Noonan Syndrome 8
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal de... OMIM:615355
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis OMIM:617092
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Dry skin, Micrognathia, Inferiorly positioned umbilicus, Absent radius, Mic... OMIM:263650
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Hypospadias, S... ORPHA:2438
Cockayne Syndrome Type 2
Male hypogonadism, Progeroid facial appearance, Widely spaced primary teeth, Hypoplasia of the pr... ORPHA:90322
Distal Triplication 15Q
Dilatation of the renal pelvis, Abnormal heart morphology, Horseshoe kidney, Nephroblastoma, Arac... ORPHA:314588
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Long philtrum, Umbilical hernia, Camptodactyly of... ORPHA:1101
Diprosopus
Cleft palate, Abnormality of the nose, Abnormal cardiac septum morphology, Non-midline cleft of t... ORPHA:1681
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Thoracic hypoplasia, Flared metaphysis, Hypertrophic cardiomyopathy, Ascites, Decreas... OMIM:616897
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Cryptorchidism, Abnormal palate morphology, Aplasia/Hypoplasia of the lens, ... ORPHA:1381
Isolated Splenogonadal Fusion
Abnormal penis morphology, Polysplenia, Ectopia of the spleen ORPHA:457083
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Ventricular se... ORPHA:398156
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Gastroesophageal reflux, Persi... OMIM:619769
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Polydactyly OMIM:615988
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... OMIM:225500
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl... OMIM:618348
Digeorge Syndrome
Micrognathia, Hepatic steatosis, Ovarian cyst, Ventricular septal defect, High palate, Patent duc... OMIM:188400
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Acquired Purpura Fulminans
Macular purpura, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Pyoderma gang... ORPHA:49566
Desmosterolosis
Total anomalous pulmonary venous return, Joint contracture of the hand, Rhizomelia, Bilateral tal... OMIM:602398
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage OMIM:614514
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Anteverted nares, Abnormal... ORPHA:2701
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Anosmia, Tooth malposition, Failure of eruption of permanent teeth, Single naris, Hy... ORPHA:2250
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Prominent fingertip pads, Abnormal heart morphology, Clinodactyly of the 4th fi... ORPHA:485405
Holoprosencephaly 11
Cleft palate, Polysplenia OMIM:614226
Cerebrofacioarticular Syndrome
Renal hypoplasia, Anal stenosis, Caudal appendage, Anteriorly placed anus, Abnormal heart morphol... ORPHA:314679
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Prominent fingertip pads, Short thumb, Stage 1 chronic kidney disea... OMIM:618821
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Hematochezia, Dilation of Virchow-Robin spaces, Talipes eq... ORPHA:261311
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Warfarin-induced skin necrosis, Purpura, Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Ventricular septal defect, Atrial septal defect, Neutropenia, Small ... OMIM:105650
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Congenital pulmonary airway malformation, Jejunoile... ORPHA:436252
Hatipoglu Immunodeficiency Syndrome
Poor wound healing, Premature graying of hair, Dry skin, Pancytopenia, Petechiae, Inguinal hernia... OMIM:620331
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Polydactyly OMIM:615987
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Pectus carinatum, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Joint hypermobi... OMIM:301039
Central Core Disease
Congenital hip dislocation, Multiple joint contractures, Mitral valve prolapse, Joint hypermobili... ORPHA:597
Aminopterin/Methotrexate Embryofetopathy
Mesomelia, Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Situs inversus ... ORPHA:1908
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d... ORPHA:439
Boomerang Dysplasia
Micromelia, Decreased response to growth hormone stimulation test, Cryptorchidism, Aplasia/Hypopl... ORPHA:1263
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Broad nasal tip, Cleft upper lip, Supernumerary nipple, Widely spaced tee... OMIM:612530
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:438178
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steat... OMIM:617303
Double Outlet Left Ventricle
Cyanosis, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bic... ORPHA:3427
Orofaciodigital Syndrome Type 6
Finger clinodactyly, Preaxial polydactyly, Hamartoma of tongue, Abnormal heart morphology, Hand p... ORPHA:2754
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615504
Sepsis In Premature Infants
Abnormal bleeding, Functional abnormality of the gastrointestinal tract, Pallor, Petechiae, Cyano... ORPHA:90051
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Wide nasal bridge, Short 3rd metacarpal, Short 4th toe, Short thumb, Muscular ventricular septal ... OMIM:618569
X-Linked Intellectual Disability, Nascimento Type
Depressed nasal bridge, Peripheral pulmonary artery stenosis, Downturned corners of mouth, Recurr... ORPHA:163956
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Short distal phalanx of finger, Abnormally large globe, Broad nasal tip, Short... OMIM:239300
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Abnormal cranial nerve morphology, Vestibular schwannoma, Scle... ORPHA:252164
Holoprosencephaly 7
Hypoplastic nasal septum, Hypoplasia of the premaxilla, Bilateral cleft palate, Microphthalmia, B... OMIM:610828
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Dilated cardiomyopathy, Normochromic microcytic anemia, Elevated circu... OMIM:610198
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Formiminoglutamic Aciduria
Anemia, Abnormal concentration of acylcarnitine in the urine, Megaloblastic anemia, Atrial septal... ORPHA:51208
Ehlers-Danlos Syndrome, Classic Type, 2
Cigarette-paper scars, Bruising susceptibility, Atrophic scars, Recurrent sinusitis, Hernia, Frag... OMIM:130010
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Normocytic anemia, Leukemi... ORPHA:33226
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Aplasia/Hypoplasia of the patella, Aplasia/Hypop... ORPHA:3320
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, Unilateral renal ... OMIM:620454
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Townes-Brocks Syndrome
Toe syndactyly, Broad thumb, Atrial septal defect, Abnormality of the kidney, Rectoperineal fistu... ORPHA:857
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly OMIM:615991
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Abnormal lung lobation, Omphalocele, Ectopia cordis, Cleft palate... OMIM:217100
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Genu valgum, Joint hypermobility, ... OMIM:619721
Nanophthalmos 2
Microphthalmia OMIM:609549
Zechi-Ceide Syndrome
Wide nasal bridge, Short distal phalanx of finger, Cleft lip, Downturned corners of mouth, Abnorm... ORPHA:217017
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a... OMIM:613426
Jawad Syndrome
Thoracic scoliosis, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalang... OMIM:251255
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou... OMIM:620133
Fetal Cytomegalovirus Syndrome
Hepatitis, Petechiae, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia, Retinal hemorrhage, J... ORPHA:294
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs, Ventricular septal ... ORPHA:2519
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Trisomy 12P
Wide nasal bridge, Downturned corners of mouth, Micrognathia, Aplasia/Hypoplasia of the iris, Mal... ORPHA:1699
Edinburgh Malformation Syndrome
Choanal atresia, Downturned corners of mouth, Anteverted nares, Micrognathia, Narrow mouth, Short... ORPHA:1895
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615505
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum, Abno... OMIM:618571
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Proboscis, Long philtrum, Anteverted nares, Prominent... OMIM:605627
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect, Cleft palate OMIM:243440
Marfanoid Habitus With Situs Inversus
Pectus carinatum, Situs inversus totalis, Mitral valve prolapse, Arachnodactyly, Pulmonic stenosi... OMIM:609008
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... ORPHA:2869
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
Schisis Association
Micromelia, Unilateral cleft lip, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Omp... ORPHA:63862
Ciliary Dyskinesia, Primary, 18
Recurrent sinusitis, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis OMIM:614874
Colonic Atresia
Peptic ulcer, Colonic atresia, Abdominal situs inversus, Duodenal stenosis, Abnormal mesentery mo... ORPHA:1198
Joubert Syndrome 22
2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:615665
Non-Distal Duplication 13Q
Abnormality of the dentition, Long philtrum, Micrognathia, Everted lower lip vermilion, Short nos... ORPHA:1702
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Retrognathia, Recurrent lower respiratory tract infections, Limb undergrowth, ... OMIM:618005
Meckel Syndrome, Type 4
Ventricular septal defect, Bowing of the long bones, Renal cyst, Atrial septal defect, Postaxial ... OMIM:611134
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Gastroesophageal reflux, Velopharyngeal insufficiency, Long philtrum, Intestin... OMIM:614701
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Short 5th finger, Broad nasal tip, Cleft upper lip, Abnormal heart morphology, Mic... OMIM:239800
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Micrognathia, Splenomegaly, Lower limb undergrowth, Omphalocele, Pulmonar... ORPHA:3035
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Aplasia/Hypoplasia of the radius, Microglossia, Oligodactyly, Abnormality of th... ORPHA:1307
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Secundum atrial septal defect, Increased mean corpuscular volume, Shor... OMIM:612562
Heart And Brain Malformation Syndrome
High, narrow palate, Interrupted aortic arch, Wide nasal bridge, Gastroesophageal reflux, Depress... OMIM:616920
Enthesitis-Related Juvenile Idiopathic Arthritis
Hip osteoarthritis, Abnormality of the calcaneus, Limited mobility of proximal interphalangeal jo... ORPHA:85438
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Microphthalmia, Anemia, Jaundice ORPHA:858
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Ventric... OMIM:210710
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Aglossia, Micrognathia, Situs inversus totalis, Narr... OMIM:202650
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia, Atrial septal defect, Micro... OMIM:614526
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Pectus excavatum, Calcaneovalgus deformity, Mitral valve prolapse, Joint hypermobility OMIM:225320
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis,... ORPHA:139466
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Aminoaciduria, Nephrocalcinosis, Gl... OMIM:613404
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Patent foramen ovale, Peripheral axonal neuropathy, Multiple prenatal fractures, ... OMIM:616867
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Reduced bone mineral den... ORPHA:1488
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Re... OMIM:219730
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Renal insufficiency, Vesicoureteral ref... OMIM:617159
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect OMIM:613730
Mitral Valve Prolapse 1
Pectus excavatum, Mitral valve prolapse OMIM:157700
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Generalized arterial tortuo... OMIM:208050
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... ORPHA:1529
Ehlers-Danlos Syndrome, Vascular Type
Periodontitis, Cryptorchidism, Mitral valve prolapse, Fragile skin, Pulmonary bulla, Pulmonary bl... OMIM:130050
Tarp Syndrome
Clinodactyly, Talipes equinovarus, Atrial septal defect, Bilateral talipes equinovarus, High pala... OMIM:311900
Distal Deletion 15Q
Small hand, Multicystic kidney dysplasia, Genu valgum, Congenital diaphragmatic hernia, Bicuspid ... ORPHA:1596
Orofaciodigital Syndrome Xi
Wide nasal bridge, Bulbous nose, Hypoplasia of the odontoid process, Cleft palate OMIM:612913
Omphalocele
Omphalocele ORPHA:660
Fragile X Syndrome
Pectus excavatum, Metacarpophalangeal joint hyperextensibility, Mitral valve prolapse, Joint hype... OMIM:300624
Codas Syndrome
Depressed nasal bridge, Gastroesophageal reflux, Hypoplasia of the odontoid process, Delayed erup... OMIM:600373
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Purpura, Thrombocytopenia ORPHA:529
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Ta... ORPHA:3306
Transketolase Deficiency
Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ... ORPHA:488618
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Camptodactyly of finger, Cutaneous finger syndactyly,... ORPHA:896
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, Intestinal ... OMIM:244300
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Depressed nasal bridge, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4... OMIM:617241
17Q12 Microduplication Syndrome
Polyhydramnios, Finger syndactyly, Toe syndactyly, Atrial septal defect ORPHA:261272
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Ventricular septal defect, Atrial septal defect, Diaphyseal under... OMIM:620663
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Nephrocalcinosis, Chronic active hepatitis, Asplenia OMIM:240300
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Dental crowding, Abnormal heart valve morphology, Prominent nose, Microgna... ORPHA:228410
Ehlers-Danlos Syndrome, Hypermobility Type
Osteoarthritis, Mitral valve prolapse, Joint hypermobility OMIM:130020
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Micro... OMIM:619472
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abnormality of connective tissue, Cutis marmorata, Abdominal aortic aneurys... ORPHA:91387
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Microretrognathia, Long philtrum, Short nose ORPHA:1389
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the mitral valve, Joint stiffness, Mitral valve prolapse, Joint hyperm... OMIM:314400
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Esophageal varix, Brac... OMIM:616028
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Stroke, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia ORPHA:49827
Fraser Syndrome 1
Aplasia/Hypoplasia of the sternum, Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the thumb,... OMIM:219000
Odontochondrodysplasia
Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Micro... ORPHA:166272
3Mc Syndrome 1
Short 5th finger, Cleft lip, Dental crowding, Cleft upper lip, Supernumerary nipple, Diastasis re... OMIM:257920
Braddock-Carey Syndrome 2
Retrognathia, Bulbous nose, Thrombocytopenia, Microphthalmia, Wide mouth, Cleft palate, Pierre-Ro... OMIM:619981
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Cubitus valgus, Mitral valve prolapse ORPHA:2183
Camurati-Engelmann Disease, Type 2
Osteopenia, Hyperostosis, Hip contracture, Mitral valve prolapse, Knee flexion contracture OMIM:606631
Kondoh Syndrome
Interphalangeal joint contracture of finger, Knee flexion contracture, Preaxial hand polydactyly OMIM:606242
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Open mouth, Thin upper lip vermi... OMIM:613604
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Anteverted nares, Mi... OMIM:619135
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Multicystic kidney dysplasia, Long hallux, Genu valgum, Arachnodactyly, Bi... ORPHA:261537
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Recurrent respiratory infections, Emphysema, Lymphopenia, Hemolytic anemia... ORPHA:1572
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Abnormality of the uret... ORPHA:1225
Meckel Syndrome, Type 2
Intestinal malrotation, Omphalocele, Microphthalmia, Bile duct proliferation, Cleft palate OMIM:603194
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Clinodactyly of the 5th finger... OMIM:619149
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Abnormal palate morphology, Micrognathia, Narrow mouth, Short nose ORPHA:1495
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Ventricular septal defect, Truncus arteriosus, 2-3 toe syndactyly, Mic... OMIM:617516
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Congenital contracture, Umbilical hernia, Abnormal heart morpholog... ORPHA:352490
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion... OMIM:611926
Wrinkly Skin Syndrome
Wide nasal bridge, Carious teeth, Microretrognathia, Progeroid facial appearance, Delayed eruptio... OMIM:278250
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Hand polydactyly, Dextrocardia, Foot polydactyly, Cleft palate ORPHA:220493
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Retrognathia, Long philtrum, Bulbous ... OMIM:617061
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Atrial septa... OMIM:250220
Coffin-Siris Syndrome 3
Depressed nasal bridge, Long philtrum, Umbilical hernia, Abnormal heart morphology, Anteverted na... OMIM:614608
Alg3-Cdg
Cardiomyopathy, Decreased liver function, Metaphyseal chondrodysplasia, Abnormality of the gastro... ORPHA:79321
Hoxha-Aliu Syndrome
Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Short distal phalanx of the 5th f... OMIM:620662
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Brachydactyly OMIM:600151
Frank-Ter Haar Syndrome
Camptodactyly of finger, Umbilical hernia, Joint stiffness, Mitral valve prolapse, Abnormal metac... ORPHA:137834
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Narrow chest, Micromelia, Joint stiffness, Femoral bowing, Increased nuchal tra... ORPHA:1860
Al-Raqad Syndrome
Sandal gap, Brachydactyly, Atrial septal defect, Joint hypermobility OMIM:616459
Megalencephaly
Long penis, Genu valgum, Atrial septal defect ORPHA:2477
Renpenning Syndrome 1
Joint contracture of the hand, Renal hypoplasia, Synostosis of the proximal phalanx of the thumb ... OMIM:309500
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Long philtrum, Micrognathia, Malar flat... ORPHA:93328
Atelis Syndrome 1
Leukopenia, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Anemia, High palat... OMIM:620184
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Dry skin, Anteverted n... OMIM:613026
Dysosteosclerosis
Optic atrophy, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal cranial ... ORPHA:1782
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri... OMIM:611878
Otopalatodigital Syndrome, Type I
Wide nasal bridge, Short distal phalanx of finger, Short 3rd metacarpal, Selective tooth agenesis... OMIM:311300
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal diab... ORPHA:563609
Chung-Jansen Syndrome
Long philtrum, Anteverted nares, Micrognathia, High palate, Thin vermilion border, Short philtrum... OMIM:617991
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor... ORPHA:75566
Cach Syndrome
Renal hypoplasia, Hepatosplenomegaly, Pancreatitis, Dysphagia, Flexion contracture, Arthrogryposi... ORPHA:135
Endocrine-Cerebroosteodysplasia
Narrow chest, Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Polyhydramnios, Tibia... OMIM:612651
Chromosome 13Q33-Q34 Deletion Syndrome
Micrognathia, Open mouth, Cryptorchidism, Irregular dentition, Microphthalmia, Anal atresia, High... OMIM:619148
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly OMIM:616622
Microform Holoprosencephaly
Choanal atresia, Tetralogy of Fallot, Panhypopituitarism, Narrow nasal bridge, Anteverted nares, ... ORPHA:280200
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Talipes equinovarus, Ventricular septal defect OMIM:209770
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Horseshoe kidney, Ankyl... OMIM:174300
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ... OMIM:143095
Coffin-Lowry Syndrome
Pectus carinatum, Bifid sternum, Single transverse palmar crease, Tapered finger, Drumstick termi... OMIM:303600
Intellectual Developmental Disorder, Autosomal Dominant 21
Single transverse palmar crease, Coarctation of aorta, Atrial septal defect, Patent ductus arteri... OMIM:615502
20P12.3 Microdeletion Syndrome
Pectus carinatum, Broad thumb, Atrial septal defect, Broad hallux phalanx ORPHA:261295
Mowat-Wilson Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Genu valgum, Bicuspid aortic valve, Chordee,... ORPHA:2152
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Urogenital sinu... OMIM:618901
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Clinodactyly, Vesicoureteral reflux, Patent foramen ovale, Ventri... OMIM:614261
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Gastroesophageal reflux, Retrognathia, Furrowed tongue, Anteverted nares, Te... OMIM:616449
Peho-Like Syndrome
Open mouth, Retrognathia, Short nose OMIM:617507
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
Q Fever
Pneumonia, Vasculitis, Abnormal vascular morphology, Hepatitis, Abnormal heart valve morphology, ... ORPHA:781
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Aganglionic megacolon, Postax... ORPHA:85284
Ehlers-Danlos Syndrome, Classic Type, 1
Cigarette-paper scars, Aortic root aneurysm, Poor wound healing, Umbilical hernia, Bruising susce... OMIM:130000
Vacterl With Hydrocephalus
Absence of the sacrum, Retrognathia, Micrognathia, Femoral hernia, Inguinal hernia, Anophthalmia,... ORPHA:3412
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620438
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip, Microphthalmia OMIM:600251
Down Syndrome
Type II diabetes mellitus, Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal d... ORPHA:870
Giant Cell Arteritis
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... ORPHA:397
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Stiff neck, Abnormality of the vestibulocochlear nerve, Ce... ORPHA:268882
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Clinodactyly, Lymphopenia, L... OMIM:616541
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short 5th finger, Short distal phalanx of finger, Increased urine alpha-ketoglutarate concentrati... OMIM:220500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Mitral valve prolapse, Bicuspid aortic valve, Talipes equinovar... OMIM:245600
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect OMIM:617744
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Slender finger, Broad thumb, Gastroesophageal reflux, Patent foramen ovale, Ventricular septal de... ORPHA:329224
Cardiospondylocarpofacial Syndrome
Synostosis of carpal bones, Brachydactyly, Mitral valve prolapse, Short palm ORPHA:3238
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Downturned corners of mouth, Tetralogy of Fallot, Anteverted nares, Conotr... ORPHA:96147
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Peripheral pulmonary artery stenosis, Short thumb, Overlapping toe, Arachnod... ORPHA:436003
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... ORPHA:991
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Abnormal heart morphology, Polydactyly, Hydronephrosis, Gastrointesti... ORPHA:531151
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Palmar hyperhidrosis, Mitral valve prolapse, Hand muscle atrophy, Knee... OMIM:620545
Ciliary Dyskinesia, Primary, 9
Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:612444
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Depressed nasal bridge, Retrognathia, Umbilical hernia, Anteverted nares, Diastasis recti, Inguin... ORPHA:254528
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Ventricular septal defect, Everte... OMIM:608670
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fi... ORPHA:1923
Cockayne Syndrome Type 3
Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic... ORPHA:90324
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Aplastic anemia, Absent thumb, Renal agenesis, Abnormal lung lobation, ... OMIM:300514
Lujan-Fryns Syndrome
Camptodactyly of finger, Joint hypermobility, Arachnodactyly, Brachydactyly, Atrial septal defect... ORPHA:776
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Tetralogy of Fallot, Anteverted nares, Mic... OMIM:222765
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Rhizomelic arm shortening, Polyhydramnios, Short lower limbs, Abno... ORPHA:96190
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal defect, Short nose, Clef... ORPHA:79113
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly of foot, Preax... OMIM:263520
Buratti-Harel Syndrome
Bifid uvula, Recurrent pneumonia, Broad thumb, Dilation of Virchow-Robin spaces, Broad hallux, Ve... OMIM:619314
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Toe syndactyly, Valvular pulmonary stenosis, Hydroureter, H... OMIM:300707
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Hypoplasia of the thymus, Impaired lymphocyte transformation with... OMIM:300400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Multicystic kidney dysplasia, Long hallux, Genu valgum, Ventricular septal... ORPHA:261552
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Decreased proportion of CD4-positive T cell... OMIM:619374
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Short toe, Micrognathia, Narrow mouth, Limb undergrowth, Short nose, Short foo... OMIM:614078
Filippi Syndrome
Optic atrophy, 2-4 toe syndactyly, Finger clinodactyly, Single transverse palmar crease, Ventricu... OMIM:272440
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Absent gallbladder, Bilateral single transverse palmar creases,... ORPHA:3310
Musculocontractural Ehlers-Danlos Syndrome
Abnormal mesentery morphology, Narrow mouth, Cryptorchidism, High palate, Short nose, Cleft lip, ... ORPHA:2953
Chromosome 1P36 Deletion Syndrome, Distal
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Optic disc pallor, Short ... OMIM:607872
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Downturned corners of mouth, Anteriorly placed anus, Cardiomyopathy, Ante... OMIM:217980
Timothy Syndrome
Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card... OMIM:601005
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter, Pulmonic stenosis OMIM:264140
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
12Q14 Microdeletion Syndrome
Renal hypoplasia, Skeletal muscle atrophy, Horseshoe kidney, Abnormality of the spleen, Intestina... ORPHA:94063
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Oligodactyly, Abnormality of the hand, Atrial septal defect, Frontal... ORPHA:521308
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Urinary incontinence, Atrial septal defect OMIM:620094
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ili... OMIM:620076
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Atypical scarring of skin, Aortic root aneurysm, Poor wound healing, Bruising suscept... OMIM:618000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, B... OMIM:235510
Tyshchenko Syndrome
Narrow chest, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Pectus excavatum, ... OMIM:615102
Achondrogenesis
Micromelia, Long philtrum, Umbilical hernia, Anteverted nares, Micrognathia, Inguinal hernia, Apl... ORPHA:932
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va... OMIM:305620
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615500
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Sagittal craniosynostosis, Ventricul... OMIM:314320
Lymphedema-Distichiasis Syndrome
Cellulitis, Chylothorax, Cleft upper lip, Tetralogy of Fallot, Micrognathia, Ventricular septal d... OMIM:153400
Recombinant 8 Syndrome
Depressed nasal bridge, Abnormality of the dentition, Downturned corners of mouth, Cleft upper li... ORPHA:96167
Thomas Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip ORPHA:3316
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Atrial septal defect, Pulmonic stenosis OMIM:619239
Kleefstra Syndrome
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Hernia, Bicuspid aortic valve, E... ORPHA:261494
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Coffin-Lowry Syndrome
Optic atrophy, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Pectus carinat... ORPHA:192
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Umbilical hernia, Hypertrophic cardiomyopathy, Cutis marmorata, Anteve... OMIM:612938
Geleophysic Dysplasia 2
Aortic valve stenosis, Cone-shaped epiphysis, Limitation of joint mobility, Joint stiffness, Mitr... OMIM:614185
Congenital Myopathy 17
Hand clenching, Pulmonary hypoplasia, Renal hypoplasia, Clinodactyly, Overlapping toe, Overlappin... OMIM:618975
Braddock-Carey Syndrome 1
Small hand, Multicystic kidney dysplasia, Clinodactyly, Anteriorly placed anus, Aortic valve prol... OMIM:619980
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis, Narrow mouth, Microphthalmia, Flexion contracture, Optic nerve hypoplasia OMIM:614833
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Mi... OMIM:616648
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral hypoplasia, Anophthalmia, Cryptorchidism, Ventricular septal defec... OMIM:206900
Trichorhinophalangeal Syndrome, Type Ii
Bicuspid aortic valve, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Synd... OMIM:150230
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Frontoocular Syndrome
Pectus excavatum, Coronal craniosynostosis, Atrial septal defect, Pulmonic stenosis OMIM:605321
Noonan Syndrome 10
Pectus carinatum, Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, M... OMIM:616564
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th finger, Microglossia, Aplasia of ... ORPHA:364577
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... OMIM:614582
Charge Syndrome
Narrow mouth, Anophthalmia, Cryptorchidism, Microphthalmia, Dysphagia, Patent ductus arteriosus, ... ORPHA:138
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Hepatosplenomegaly, Micrognathia, Narrow mouth, Cryptorchidism... ORPHA:96334
Adams-Oliver Syndrome
Short distal phalanx of finger, Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralog... ORPHA:974
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Mitral valve prolapse, Eosinophilic infiltration of the esophagus, Bicuspid... OMIM:614816
Autosomal Recessive Robinow Syndrome
Open bite, Ankyloglossia, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal ... ORPHA:1507
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Choanal stenosis, ... ORPHA:1790
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microglossia, Micromelia, Micrognathia, Short ribs, Median cleft upper li... OMIM:241800
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Hydroureter, Vesicoureteral reflux, Nephrolithiasis, Talipes equinovarus, Vascu... OMIM:617219
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Short nose, Wide nose ORPHA:217385
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ... OMIM:249620
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar... OMIM:613834
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Wolcott-Rallison Syndrome
Chronic kidney disease, Elevated circulating hepatic transaminase concentration, Exocrine pancrea... ORPHA:1667
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Umbilical hernia, Mitral atresia, Bulbous nose, An... OMIM:618164
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Abnormality of the dentition, Microretrognathia, Abnormality of the philtrum ORPHA:276422
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Abnormal oral frenulum morphology, Microphthalmia, Short philtrum, Cleft... ORPHA:1617
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Exstrophy-Epispadias Complex
Abnormality of the ureter, Abnormality of the kidney, Urinary incontinence, Anal atresia, Renal d... ORPHA:322
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge, Anteriorly placed anus, Absent radius, Micrognathia, Aplasia/Hypoplasia of the... ORPHA:1352
Proboscis Lateralis
Choanal atresia, Abnormality of the maxillary sinus, Abnormal facial skeleton morphology, Probosc... ORPHA:141099
Oculomaxillofacial Dysostosis
Wide nasal bridge, Tessier cleft, Abnormality of the dentition, Abnormality of the nose, Underdev... ORPHA:1794
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Petechiae, Abnormal lymphatic vessel morphology, R... ORPHA:2330
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Patellar hypoplasia, Vesicoureteral reflux, Brachydactyly, Short fourth metatarsal ORPHA:464288
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Broad columella, Recurrent respiratory infections, Long philtrum, Hypertrophic... OMIM:619383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Flexion contracture, Cardiomyopathy, Microphthalmia OMIM:613155
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Dysphagia, Hip dislocation, Ventricular septal defect OMIM:619083
Ectopia Lentis 1, Isolated, Autosomal Dominant
Pectus carinatum, Mitral valve prolapse, Joint hypermobility, Arachnodactyly, Pectus excavatum OMIM:129600
Developmental And Epileptic Encephalopathy 90
Limb hypertonia, Atrial septal defect, Fetal pyelectasis OMIM:301058
Codas Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal de... ORPHA:1458
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Rhizomelia, Micrognathia, Short palm, Microphthalmia, Short philtrum, Shor... ORPHA:163966
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular ventricular septal defect, Normochromi... ORPHA:66634
Developmental And Epileptic Encephalopathy 73
Flexion contracture, Narrow nasal bridge, Inguinal hernia, Short nose OMIM:618379
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Broad philtrum, Short nose OMIM:618577
Manitoba Oculotrichoanal Syndrome
Bifid nasal tip, Anal stenosis, Broad nasal tip, Anteriorly placed anus, Anophthalmia, Omphalocel... OMIM:248450
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Renal hypoplasia, Sandal gap, Venous malformation, Splenomegaly, Nephroblastoma OMIM:612918
Peters Plus Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Renal hypoplasia/aplasia, Anal atresia, Short foot,... ORPHA:709
Otodental Syndrome
Abnormality of canine, Carious teeth, Abnormal dental pulp morphology, Abnormal molar morphology,... ORPHA:2791
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... ORPHA:46627
Arterial Tortuosity Syndrome
Aortic root aneurysm, Esophagitis, Short nose, Gastroesophageal reflux, Hypertrophic cardiomyopat... ORPHA:3342
Potocki-Shaffer Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Short philtrum, Short ... OMIM:601224
Developmental Delay With Variable Neurologic And Brain Abnormalities
Widely spaced teeth, Anteverted nares, Micrognathia, Knee flexion contracture, Microdontia, Micro... OMIM:619694
Lymphedema-Hypoparathyroidism Syndrome
Increased carrying angle, Brachydactyly, Mitral valve prolapse, Lymphedema OMIM:247410
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Toe syndactyly, Broad thumb, Ankyloglossia, Clinodactyly of the 5th fing... ORPHA:250989
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Tented upper lip vermilion, Thin upper lip vermilion, Shorten... OMIM:615716
Andersen-Tawil Syndrome
Small hand, Dilated cardiomyopathy, Renal hypoplasia, Renal tubular dysfunction, Clinodactyly of ... ORPHA:37553
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Aplastic anemia, Absent thumb, Short thumb, Horseshoe kidney, Nephrobl... OMIM:610832
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Anal stenosis, Broad hallux, Vesicoureteral reflux, Agangli... OMIM:614749
Chromosome 5Q12 Deletion Syndrome
Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Long toe, Atrial ... OMIM:615668
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Petechiae, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia, Purpura OMIM:605432
Distal Duplication 18Q
Choanal atresia, Carious teeth, Abnormal dental morphology, Anteverted nares, Prominent nasal bri... ORPHA:1716
Achondrogenesis Type 1A
Micromelia, Long philtrum, Umbilical hernia, Anteverted nares, Micrognathia, Aplasia/Hypoplasia o... ORPHA:93299
Holoprosencephaly 9
Hypoplasia of the premaxilla, Anophthalmia, Cryptorchidism, Bilateral cleft palate, Short hard pa... OMIM:610829
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Arachnodact... ORPHA:1600
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis OMIM:614017
Frontofacionasal Dysplasia
Tessier cleft, Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, D... ORPHA:1791
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Anteverted nares, Micrognathia, Malar flattening, Ventricular septal defect, Dee... OMIM:610536
Spondyloocular Syndrome
Pectus carinatum, Osteopenia, Lymphedema, Overlapping toe, Mitral valve prolapse, Arachnodactyly,... OMIM:605822
Tetraamelia Syndrome 1
Renal agenesis, Hypoplastic pelvis, Congenital diaphragmatic hernia, Urethral atresia, Asplenia, ... OMIM:273395
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Prominent superficial veins, Down-sloping shoulders OMIM:616817
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Progeroid facial appearance, Insulin-resistant diabetes mellitus, Generalized li... OMIM:608612
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Mitral valve pro... OMIM:259600
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620197
Achondrogenesis, Type Ib
Hypoplastic ilia, Narrow chest, Micromelia, Umbilical hernia, Absent or minimally ossified verteb... OMIM:600972
Marfan Syndrome
Mitral annular calcification, Pectus carinatum, Premature osteoarthritis, Limited elbow extension... OMIM:154700
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Abnormal B cell count, Hepatomegaly, Recurrent respiratory infections, Aut... OMIM:613496
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Bruising susceptibility, Acute monocytic leukemia, Abnormal dense granule content, Abn... OMIM:601399
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Broad thumb, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... ORPHA:353281
Classical Ehlers-Danlos Syndrome
Aortic root aneurysm, Poor wound healing, Mitral valve prolapse, Fragile skin, Rectal prolapse, G... ORPHA:287
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Poor wound healing, Abnormality of the spleen, Hepatosplenomegaly, Pa... ORPHA:2072
Non-Syndromic Posterior Hypospadias
Androgen insufficiency, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the endoc... ORPHA:95706
Achondrogenesis Type 1B
Micromelia, Long philtrum, Umbilical hernia, Anteverted nares, Micrognathia, Aplasia/Hypoplasia o... ORPHA:93298
Craniofacioskeletal Syndrome
Interrupted aortic arch, Small hand, Absent gallbladder, Ventricular septal defect, Hydronephrosi... OMIM:300712
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cellulitis, Wide nasal bridge, Chylothorax, Skin ulcer, Long philtrum, Dry skin, Anteverted nares... ORPHA:2526
Warburg Micro Syndrome 1
Wide nasal bridge, Anteverted nares, Micrognathia, Narrow mouth, Cryptorchidism, Microphthalmia, ... OMIM:600118
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Poor wound healing, Subdural hemorrhage, Bruising susceptibility, Umbi... ORPHA:536545
Fg Syndrome 5
Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Short nose OMIM:300581
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Atr... ORPHA:363528
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Pectus carinatum, Osteopenia, Abnormal heart valve mor... ORPHA:363705
Epidermolysis Bullosa Simplex 5A, Ogna Type
Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Developmental And Epileptic Encephalopathy 89
Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Long philtrum, Anteverted nares, Th... OMIM:619124
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Ventricular septa... OMIM:613680
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis OMIM:616481
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Acromesomelia, Recurrent pneumonia, Abnormal heart morphology, Patent foramen o... ORPHA:500159
Congenital Gerbode Defect
Bacterial endocarditis, Peripheral edema, Ventricular septal defect, Constrictive pericarditis, P... ORPHA:99095
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Optic disc coloboma, Preaxial polydactyly, Short ribs, Ven... OMIM:615948
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Renal dysplasia, Hypoplastic left hea... OMIM:277170
Microphthalmia With Linear Skin Defects Syndrome
Wide nasal bridge, Erythema, Dilated cardiomyopathy, Retrognathia, Hypertrophic cardiomyopathy, A... ORPHA:2556
Orofacial Cleft 13
Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia OMIM:613857
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
X Small Rings
Toe syndactyly, Upper limb undergrowth, Oligohydramnios, Mitral stenosis, Lower limb undergrowth,... ORPHA:96201
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Pectus carinatum, Osteopenia, Broad thumb, Secundum atrial septal defect, Clinodactyly, Long hall... OMIM:620194
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Recurrent pneumonia, Cholelithiasis, Retrognathia, Furrowed tongue, Antevert... ORPHA:464738
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Gastroesophageal reflux, Patent foramen ovale OMIM:617182
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Cold urticaria, Vascular skin abnormality, Viral hepatit... ORPHA:91139
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone o... OMIM:618162
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Tented upper lip vermilion, Open mouth, Mandibular prognathia, Short nose OMIM:300143
3Q29 Microduplication Syndrome
Wide nasal bridge, Abnormality of the dentition, Aniridia, Ventricular septal defect, Camptodacty... ORPHA:251038
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, An... ORPHA:163649
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Ventricula... OMIM:616277
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis OMIM:612650
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Coffin-Siris Syndrome 5
Arachnodactyly, Short distal phalanx of finger, Sandal gap, Atrial septal defect OMIM:616938
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Pyloric stenosis OMIM:218350
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Ventricular septal defect, Aplasia/Hypoplasia of the patella, At... OMIM:135900
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Coarctation of aorta, Atrial sep... OMIM:614857
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Ventricular septal defect, B... OMIM:271640
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... ORPHA:2521
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Hypoplasia of the maxilla, Gastroesophageal reflux, Broad nasal tip, Optic... ORPHA:79345
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Epiphyseal dysplasia, Congenital hip dislocation, Aminoaciduria, Renal hypoplasia, Nephrocalcinos... OMIM:617913
Tetrasomy 12P
Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Congenital Disorder Of Glycosylation, Type Il
Villous atrophy, Splenomegaly, Hepatomegaly, Atrial septal defect, Pericardial effusion, Polycyst... OMIM:608776
Intellectual Developmental Disorder, Autosomal Dominant 72
Facial hypotonia, Renal hypoplasia, Broad palm, Micropenis OMIM:620439
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Micrognathia, Microphthalmia OMIM:616171
Noonan Syndrome 9
Coarctation of aorta, Hydroureter, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Temtamy Syndrome
Dental crowding, Long philtrum, Micrognathia, Aortic aneurysm, Convex nasal ridge, Microphthalmia... OMIM:218340
Acrocallosal Syndrome
Everted upper lip vermilion, Narrow mouth, Protruding tongue, Cryptorchidism, Open mouth, Alveola... OMIM:200990
Fibular Hemimelia
Short tibia, Short toe, Abnormal heart morphology, Foot oligodactyly, Fibular aplasia, Anophthalm... ORPHA:93323
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Micrognathia, Malar flattening, Convex nasal ridge, Short nose, Cleft palate ORPHA:2145
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Micrognathia, Thin upper lip vermilion, Smooth philtrum, Slender nose, Wide mouth, Short nose OMIM:615419
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Short 5th finger, Toe clinodactyly, Absent gallbladder, Bulbous tips of ... ORPHA:163979
Silver-Russell Syndrome 1
Urethral valve, Abnormality of the ureter, Nephroblastoma, Hepatocellular carcinoma, Clinodactyly... OMIM:180860
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, An... OMIM:614069
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... OMIM:613490
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone morphology, Overri... ORPHA:1110
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Williams Syndrome
Genu valgum, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic valve, O... ORPHA:904
Coffin-Siris Syndrome 7
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Sagittal... OMIM:618027
Robinow Syndrome
Flared nostrils, Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of perm... ORPHA:97360
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Cardiomyopathy, Anteverted nares, Open mouth, Prolonged neonatal jaundice, Sho... OMIM:618437
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Wide nasal bridge, Protein-losing enteropathy, Pancreatic lymphangiectasis, Micrognathia, Inguina... OMIM:235255
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Short distal phalanx of finger, Anteverted nares, Short ... ORPHA:1914
Lambotte Syndrome
Preaxial foot polydactyly, Ventricular septal defect OMIM:245552
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Aortic dissection, Mitral valve prolapse, Pulmonary art... OMIM:175050
Tarp Syndrome
Finger syndactyly, Extramedullary hematopoiesis, Clinodactyly, Tetralogy of Fallot, Hypoplasia of... ORPHA:2886
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Purpura OMIM:612336
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Subcutaneous hemorrhage, Arterial stenosis, Cutis marmorata, Microgna... ORPHA:1556
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Abnormal erythrocyte morphology,... ORPHA:324636
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system, Abnormal lung lobation ORPHA:1745
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Umbilical hernia, Intestinal malrotation, Neoplasm of the heart, Cryptorchidism, Abno... ORPHA:2241
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Rhizomelia, Abnormal lung lobation, Decreased response to growth hormone ... OMIM:614114
Cockayne Syndrome Type 1
Abnormality of the dentition, Mandibular prognathia, Male hypogonadism, Foot joint contracture, P... ORPHA:90321
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
Schuurs-Hoeijmakers Syndrome
Volvulus, Patent foramen ovale, Bicuspid aortic valve, Large hands, Abnormal cardiac septum morph... OMIM:615009
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Micrognathia, Abnormal aortic morphology, Bilater... ORPHA:2001
Robinow Syndrome, Autosomal Dominant 2
Mesomelia, Depressed nasal bridge, Abnormality of the dentition, Short distal phalanx of finger, ... OMIM:616331
Kabuki Syndrome 2
Short 5th finger, Broad nasal tip, Natal tooth, Dental malocclusion, Atrioventricular canal defec... OMIM:300867
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, Multiple suture craniosynostosis, Ventricular septal de... ORPHA:3369
Oculotrichoanal Syndrome
Bifid nasal tip, Anal stenosis, Anteriorly placed anus, Anophthalmia, Microphthalmia ORPHA:2717
Lujo Hemorrhagic Fever
Atelectasis, Lymphopenia, Leukopenia, Leukocytosis, Excessive bleeding after a venipuncture, Ecch... ORPHA:319213
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Secundum atrial septal defect, Dilation of Virchow-Robin spaces, Sanda... OMIM:619951
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Recurrent pneumonia, Aspiration pneumonia, Abnormal heart morphology, Ant... ORPHA:314655
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Hepatic steatosis, Rhabdomyolysis, 3-Methylglutac... ORPHA:17
Macs Syndrome
Wide nasal bridge, Eclabion, Bronchiectasis, Dilation of Virchow-Robin spaces, Bruising susceptib... OMIM:613075
Kanzaki Disease
Depressed nasal bridge, Thick lower lip vermilion, Dry skin, Petechiae, Lip telangiectasia, Telan... OMIM:609242
X-Linked Intellectual Disability, Siderius Type
Large hands, Preaxial hand polydactyly ORPHA:85287
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of ... OMIM:616367
Cohen Syndrome
Optic atrophy, Genu valgum, Single transverse palmar crease, Narrow palm, Mitral valve prolapse, ... OMIM:216550
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:618699
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Bardet-Biedl Syndrome 4
Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, Syndactyly OMIM:615982
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Synostosis involving the 1st metacarpal, Abnormal left ventricle morphology, Patent foramen ovale... ORPHA:466791
Atelis Syndrome 2
Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Downturn... OMIM:620185
Limb Body Wall Complex
Broad hallux, Abnormal heart morphology, Aplasia of the proximal phalanges of the hand, Abnormali... ORPHA:2369
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent r... OMIM:608647
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Recurrent pneumonia, Carious teeth, Delayed eruption of teeth, Lon... OMIM:214150
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Atypical scarring of skin, Dental crowding, Aortic dissection, Bruising susceptibility, Underdeve... OMIM:618343
Martsolf Syndrome 1
Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Tooth malposition, Short toe,... OMIM:212720
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Gastroesophageal reflux, Intestinal malrotation, Ventricular septal defect, Hydronephrosis, Atria... ORPHA:457193
Rere-Related Neurodevelopmental Syndrome
Choanal atresia, Gastroesophageal reflux, Abnormal heart morphology, Anteverted nares, Micrognath... ORPHA:494344
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Abnormality of the dentition, Long philtrum, Prominent nasal bridge, Inguinal hernia, Ventricular... ORPHA:261190
Kawasaki Disease
Vasculitis, Strawberry tongue, Abnormal pulmonary interstitial morphology, Double outlet right ve... ORPHA:2331
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Sp... OMIM:600460
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Thrombocytopenia 10
Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou... OMIM:620484
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Broad thumb, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Broad thumb, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... ORPHA:353277
Cardiac-Valvular Ehlers-Danlos Syndrome
Sandal gap, Abnormal heart valve morphology, Recurrent shoulder dislocation, Genu valgum, Mitral ... ORPHA:230851
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, High palate, Micrognathia, Short nose OMIM:615042
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections... OMIM:613808
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Tibial metaphyseal irregularity, Short meta... ORPHA:457395
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Cleft soft palate, Reduced subcutaneous adipose tissue, Ventricular septal ... OMIM:615582
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste... OMIM:614300
Intellectual Developmental Disorder, X-Linked 30
Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Thin upper lip v... OMIM:300558
Noonan Syndrome 13
Clinodactyly, Enlarged thorax, Lymphedema, Overlapping toe, Limited elbow extension, Mitral valve... OMIM:619087
Mycophenolate Mofetil Embryopathy
Tessier cleft, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, Coarctat... ORPHA:268249
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Downturned corners o... ORPHA:1327
Geleophysic Dysplasia 1
Aortic valve stenosis, Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short me... OMIM:231050
Short Stature And Facioauriculothoracic Malformations
Pectus carinatum, Cervical ribs, Pectus excavatum, Ventricular septal defect OMIM:609654
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anal stenosis, Gastroesophageal reflux, Short distal phalanx of finger, L... OMIM:614080
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... ORPHA:449400
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Underdeveloped nasal alae, Selective tooth agenesis, Cleft ... OMIM:164200
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:614935
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Williams-Beuren Syndrome
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Radioulnar synostosis, A... OMIM:194050
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Ventricular septal defect, Aganglionic megacolon, Hypoplasia o... ORPHA:452
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Pleural effusion, Petechiae, Leukocytosis, Ecchymosis, Pulmonary edema, Hem... ORPHA:340
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Sidero... OMIM:617021
Coffin-Siris Syndrome
Wide nasal base, Aspiration pneumonia, Cryptorchidism, Ventricular septal defect, Hernia, Hepatob... ORPHA:1465
Marfan Syndrome
Pectus carinatum, Osteopenia, Mitral valve prolapse, Limited elbow movement, Arachnodactyly, Tric... ORPHA:558
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Apl... ORPHA:84
Coffin-Siris Syndrome 6
High, narrow palate, Gastroesophageal reflux, Clinodactyly, Brachydactyly, Atrial septal defect, ... OMIM:617808
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret... OMIM:615550
Acrocephalopolydactyly
Depressed nasal ridge, Hepatosplenomegaly, Limb undergrowth, Short nose ORPHA:221054
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Atrioventricular canal defect, Horseshoe kidney, Splenomegaly, Aplasia of ... OMIM:617088
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Micrognathia, Mandibular prognathia, Short nose OMIM:617183
Wolfram Syndrome 1
Hydroureter, Limited mobility of proximal interphalangeal joint, Cardiomyopathy, Sideroblastic an... OMIM:222300
Aase-Smith Syndrome I
Slender finger, Talipes equinovarus, Flexion contracture, Ventricular septal defect OMIM:147800
3Q29 Microdeletion Syndrome
Abnormality of the dentition, Gastroesophageal reflux, Dental crowding, Prominent nasal bridge, S... ORPHA:65286
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Eosinophilic infiltration of the esophagus, Reduced... OMIM:615508
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Chronic bronchit... OMIM:616629
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Cutaneous photose... ORPHA:699
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, S... ORPHA:261330
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormally large globe, Broad nasal tip, Pancreatic lymphangiectasis,... ORPHA:1655
Bacterial Toxic-Shock Syndrome
Cellulitis, Pneumonia, Hepatitis, Fasciitis, Respiratory tract infection, Ecchymosis, Increased c... ORPHA:36234
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Short ribs, Limb undergrowth, Patent ductus arteriosus,... OMIM:618961
Steinfeld Syndrome
Bifid uvula, Abnormal heart morphology, Median cleft palate, Absent gallbladder, Missing ribs, Ap... OMIM:184705
Tetraploidy
Aplasia/Hypoplasia of the thymus, Micrognathia, Aplasia/Hypoplasia of the lungs, Convex nasal rid... ORPHA:3305
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a... OMIM:610168
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Abnormally large globe, Abnormality of the dentition, H... ORPHA:363417
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Microphthalmia OMIM:120433
Potocki-Lupski Syndrome
Gastroesophageal reflux, Oral-pharyngeal dysphagia, Patent foramen ovale, Abnormal renal morpholo... OMIM:610883
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Clinodactyly, Oligosacchariduria, Hepatosplenomegaly, Talipes equinovarus, Atrial septal defect, ... ORPHA:397709
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Joint contracture of the hand, Depressed nasal bridge, Cigarette-paper scars, Bruisi... OMIM:612350
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Bicuspid aortic valve, Anal atresia, Low han... OMIM:619318
Baker-Gordon Syndrome
Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Short nose OMIM:618218
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura OMIM:612304
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Pectus carinatum, Clinodactyly, Lymphedema, Genu valgum, Polydactyly, Flatt... OMIM:607131
Auriculocondylar Syndrome 2B
Mandibular condyle hypoplasia, Micrognathia, Narrow mouth, Omphalocele OMIM:620458
Microphthalmia With Limb Anomalies
Finger aplasia, Depressed nasal bridge, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, ... ORPHA:1106
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Ventricular septal defect... OMIM:258900
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Seckel Syndrome 9
Pulmonary artery hypoplasia, Recurrent urinary tract infections, Congenital diaphragmatic hernia,... OMIM:616777
Ehlers-Danlos Syndrome, Periodontal Type, 1
Gingival bleeding, Poor wound healing, Bruising susceptibility, Periodontitis, Umbilical hernia, ... OMIM:130080
Jansen-De Vries Syndrome
Small hand, Gastroesophageal reflux, Ventricular septal defect, Bicuspid aortic valve, Brachydact... OMIM:617450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Atrioventricular canal defect, F... ORPHA:453499
Keutel Syndrome
Short distal phalanx of finger, Recurrent sinusitis, Ventricular septal defect, Pulmonary artery ... ORPHA:85202
Shigellosis
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, Leukocytosis, Para... ORPHA:810
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Thin upper lip vermilion, ... OMIM:613443
Tangier Disease
Coronary artery stenosis, Dry skin, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Le... ORPHA:31150
ERI1-related disease
Pectus carinatum, Narrow chest, Osteopenia, Abnormal heart morphology, Slender metacarpals, Oligo... OMIM:608739
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Eosinophilia, Periorbital edema, Palpebral edema, Abnorm... ORPHA:449563
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Micrognathia, Cryptorchidism, Delayed puberty, Mandibular prognathia... ORPHA:496790
Noonan Syndrome 7
Pectus carinatum, Hypertrophic cardiomyopathy, Joint hypermobility, Cubitus valgus, Deep palmar c... OMIM:613706
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Short finger, Hypoplastic heart, Increased susceptibility to fractures, Polyhydramnios... OMIM:312150
Filippi Syndrome
Optic atrophy, Limitation of joint mobility, Finger syndactyly, Bilateral single transverse palma... ORPHA:3255
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Clinodactyly of the 5th toe, Sh... OMIM:620113
Joubert Syndrome 14
Prominent nasal bridge, Open mouth, Malar flattening, Tented upper lip vermilion, Ventricular sep... OMIM:614424
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Broad nasal tip, Carious teeth, Prominent veins on trunk, Long philtrum, Subretinal pigment epith... ORPHA:357074
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Fused cervical vertebrae, Ventricular septal d... OMIM:214300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bifid nasal tip, Ankyloglossia, Unilateral microphthalmos, Malar flattening, Mitral valve prolaps... OMIM:618874
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Broad thumb, Overlapping toe, Ventricular septal defect, Down-sloping shoulders, Talipes equinova... OMIM:617452
Cutis Laxa, Autosomal Recessive, Type Iib
Gastroesophageal reflux, Bruising susceptibility, Vascular tortuosity, Long philtrum, Bulbous nos... OMIM:612940
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Micromelia, Camptodactyly of finger, Anteverted nar... ORPHA:2021
Dahlberg-Borer-Newcomer Syndrome
Short distal phalanx of finger, Brachydactyly, Mitral valve prolapse, Lymphedema ORPHA:1563
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Broad thumb, Toe syndactyly, Overlapping toe, Ventricular septal defect, Arachnodactyly, Talipes ... ORPHA:505237
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Depressed nasal bridge, Micromelia, Anteverted nares, Short ribs, Cardiomegaly, Deep philtrum, Va... OMIM:613320
5Q14.3 Microdeletion Syndrome
Anteverted nares, Open mouth, Short philtrum, Short nose, Optic nerve hypoplasia ORPHA:228384
Focal Dermal Hypoplasia
Midclavicular aplasia, Supernumerary nipple, Congenital diaphragmatic hernia, Anophthalmia, Crypt... OMIM:305600
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Anemia, Reti... ORPHA:88
Immunodeficiency 9
Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Amelogenesis imperfecta, Ec... OMIM:612782
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Periportal fibrosis, Abnormality of the urinary system OMIM:213010
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Abdominal aortic aneurysm, Congenital diaphragmatic hernia, Bicuspid aor... OMIM:619656
Autosomal Recessive Omodysplasia
Mesomelia, Depressed nasal bridge, Rhizomelia, Micromelia, Long philtrum, Anteverted nares, Micro... ORPHA:93329
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... ORPHA:3282
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Abnormally large globe, Short nose OMIM:611936
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Hypospadias, Finger syndactyly, Sandal gap, Hepatic steatosis, Ventricular sept... ORPHA:254346
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Mesomelia, Gastroesophageal reflux, Elevated circulati... OMIM:613457
Congenital Contractural Arachnodactyly
Congenital contracture, Camptodactyly of finger, Joint stiffness, Mitral valve prolapse, Arachnod... ORPHA:115
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Facial hypotonia, Nephrocalcinosis, Atrial septal defect, Decreased muscle mass ORPHA:500533
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Anteverted nares, Ventricular septal defect, Microphthalmia, Hypoplasia of teeth, S... OMIM:234050
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Unde... ORPHA:306542
Phace Association
Arterial stenosis, Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid, Coarcta... OMIM:606519
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Hypoplasia of the odontoid process, Cryptorchidis... OMIM:305400
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Absent thumb, Anteriorly placed anus, Biliary atresia, Esophageal at... OMIM:615272
Zaki Syndrome
Broad distal phalanx of finger, Toe syndactyly, Renal agenesis, Ectrodactyly, Hypoplasia of the p... OMIM:619648
Holoprosencephaly 14
Cleft lip, Proboscis, Anteverted nares, Ventricular septal defect, Median cleft upper lip, Double... OMIM:619895
Noonan Syndrome 5
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Cubitus valgus, Atrial septal defect, P... OMIM:611553
Congenital Factor V Deficiency
Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Bruisi... ORPHA:326
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Postaxi... OMIM:607361
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Short humerus, Mandibular prognathia, Short metacarpal, Short ... ORPHA:2831
Bamforth-Lazarus Syndrome
Choanal atresia, Retrognathia, Cleft palate ORPHA:1226
Noonan Syndrome 2
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pa... OMIM:605275
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, 11 pairs ... OMIM:620073
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Pulmonary hypoplasia, Sec... OMIM:616866
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Atrial septal defect, Decreased liver fu... OMIM:615160
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... ORPHA:1988
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Micrognathia, High palate, Peg-shaped max... ORPHA:2751
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Subconjunctival hemorrhage, Abnormal bleeding, Bruising su... ORPHA:99826
Brachydactyly-Preaxial Hallux Varus Syndrome
Broad thumb, Preaxial hand polydactyly, Radial club hand, Brachydactyly, Short metatarsal, Short ... ORPHA:1278
Meckel Syndrome 14
Hepatic fibrosis, Pulmonary hypoplasia, Postaxial foot polydactyly, Bowing of the long bones, Pos... OMIM:619879
17Q23.1Q23.2 Microdeletion Syndrome
Shallow acetabular fossae, Abnormal epiphysis morphology, Sandal gap, Patellar hypoplasia, Limita... ORPHA:261279
Kury-Isidor Syndrome
Finger syndactyly, Ventricular septal defect, Hydronephrosis, Talipes equinovarus, Brachydactyly,... OMIM:619762
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Congenital Heart Block
Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, Patent foramen ovale, Peripheral e... ORPHA:60041
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Neutrophilia, Hepatomegaly, Jaundice, Purpura, Diffuse alveolar ... ORPHA:99827
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Hypoplasia of the bladder, Renal agenesis, Bilateral lu... OMIM:611812
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Rin2 Syndrome
Bruising susceptibility, Abnormal lip morphology, Umbilical hernia, Long philtrum, Gingival overg... ORPHA:217335
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, A... OMIM:614823
Insulin-Like Growth Factor I, Resistance To
Abnormal rib cage morphology, Small hand, Clinodactyly, Sandal gap, Short finger, Radial deviatio... OMIM:270450
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Depressed nasal bridge, Reduced natural killer cell count, Anteverted nares, Micrognat... OMIM:242860
Cardiomyopathy, Dilated, 2J
Dilated cardiomyopathy, Secundum atrial septal defect OMIM:620635
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Contractures of the large joints, Abnormal thumb morphology, Mitral valve ... ORPHA:324410
Noonan Syndrome 4
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excav... OMIM:610733
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Long philtrum, Bulbous nose, Anteverted nares, Tented upper lip vermilion... OMIM:614105
Bohring-Opitz Syndrome
Narrow palate, Gastroesophageal reflux, Short toe, Dislocated radial head, Intestinal malrotation... OMIM:605039
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Left ventricular noncompaction, Patent f... OMIM:619167
Monosomy 18P
Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, H... ORPHA:1598
Doors Syndrome
Wide nasal base, Aspiration pneumonia, Short lingual frenulum, Adrenal hyperplasia, Open mouth, A... ORPHA:79500
Proteus-Like Syndrome
Bronchogenic cyst, Thymus hyperplasia, Subcutaneous lipoma, Abnormality of the parathyroid gland,... ORPHA:2969
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Tetralogy of Fallot, Absent cupid's bow, Cleft soft palate, Med... ORPHA:2919
Bartsocas-Papas Syndrome
Absent thumb, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Median cleft upper lip, Shor... ORPHA:1234
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Anal atresia, Atrial septal... OMIM:612582
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, Microphthalmia, High palate, Abnormality of the hypothalamus-pituit... ORPHA:139471
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Ventricular septal defect OMIM:618504
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Narrow palate, Retrognathia, Long philtrum, Wide mouth, Narrow mouth, Microgna... OMIM:620250
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Arteriovenous malformation, Long philtrum, Subcutaneous hemo... ORPHA:109
Premature Aging Syndrome, Penttinen Type
Micrognathia, Aplasia of the nasal bone, Flexion contracture of finger, Microphthalmia, Short foo... OMIM:601812
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Ankyloglossia, Micrognathia, Aplasia of the thymus, Atrial septal def... OMIM:620186
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Camptodactyly of finger, Abnormal heart morphology, Elbow flexion contr... OMIM:610758
Fanconi Anemia, Complementation Group S
Dental malocclusion, Underdeveloped nasal alae, Thick upper lip vermilion, Macrodontia, Anteverte... OMIM:617883
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Umbilical hernia, Abnormal heart mor... OMIM:601499
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Microphthalmia, Hepat... OMIM:618805
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Cholestasis, Hepatosplenomegaly, Oral ulcer, Hepatomegaly, Jaundice, Purpura, Increased... OMIM:620376
Stickler Syndrome, Type Ii
High, narrow palate, Depressed nasal bridge, Bifid uvula, Anteverted nares, Micrognathia, Malar f... OMIM:604841
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the z... ORPHA:193
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Polyhydramnios, Arthrogryposis multiplex conge... OMIM:607598
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Bifid uvula, Dilated cardiomyopathy, Elevated circulating hepatic trans... OMIM:614921
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Shoulder girdle muscle weakness, Myopathy, Patent foramen ovale, Pelvic girdle muscle weakness, G... OMIM:615156
Moebius Syndrome
Bifid uvula, Depressed nasal bridge, Abnormality of the dentition, Arthrogryposis multiplex conge... OMIM:157900
Juvenile Polyposis Of Infancy
Midclavicular hypoplasia, High, narrow palate, Intestinal bleeding, Broad thumb, Gastrointestinal... ORPHA:79076
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Congenital diaphragm... ORPHA:818
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Dilation of Virchow-Robin spaces, Long philtrum, Lymphopenia, Splenomegal... OMIM:605309
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Jacobsen Syndrome
Depressed nasal bridge, Annular pancreas, Recurrent respiratory infections, Anteverted nares, Mic... OMIM:147791
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Gastroesophageal reflux, Cleft upper lip, Camptodactyly of finger, Anteve... ORPHA:261236
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hema... ORPHA:449395
Meckel Syndrome 12
Bifid uvula, Renal hypoplasia, Arthrogryposis multiplex congenita, Bilateral renal agenesis, Rock... OMIM:616258
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxill... ORPHA:560
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, High palate, S... ORPHA:251028
Hartsfield Syndrome
Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Microphthalmia, Non-midline cleft of th... ORPHA:2117
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Craniofacial hyperostosis, Tricuspid valve prolapse, Bone cyst, Osteolysis ORPHA:2396
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Micrognathia, Short nose ORPHA:1514
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Varicose veins OMIM:126320
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Recurrent upper respiratory tract infections, Contractures of the lar... ORPHA:3078
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Cleft palate, Microphthalmia OMIM:610125
Ogden Syndrome
High, narrow palate, Microretrognathia, Everted upper lip vermilion, Underdeveloped nasal alae, E... ORPHA:276432
Fg Syndrome Type 1
Clinodactyly of the 2nd finger, Finger syndactyly, Umbilical hernia, Abnormal sternum morphology,... ORPHA:93932
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Peters-Plus Syndrome
Square pelvis bone, Ventricular septal defect, Limited elbow movement, Atrial septal defect, Shor... OMIM:261540
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Short finger, Hypoplastic heart, Increased susceptibility to fractures, Polyhydramnios... OMIM:253290
Warsaw Breakage Syndrome
Tetralogy of Fallot, Single transverse palmar crease, Ventricular septal defect, 2-3 toe syndacty... OMIM:613398
Congenital Disorder Of Glycosylation, Type Iie
Gastroesophageal reflux, Secundum atrial septal defect, Retrognathia, Micrognathia, Narrow mouth,... OMIM:608779
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Cryptorchidism, Ventricular septal defect, Absent frontal sinuses, Widely-spac... OMIM:301040
Diphallia
Penoscrotal transposition, Absent thumb, Bladder exstrophy, Duplicated colon, Gastrointestinal du... ORPHA:227
Walker-Warburg Syndrome
Bifid uvula, Anophthalmia, Submucous cleft hard palate, Cryptorchidism, Microphthalmia, Cleft palate ORPHA:899
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Finger swelling, Glomerulonephritis, Abnormality of ... ORPHA:90291
Genitopatellar Syndrome
Hypoplastic ilia, Multicystic kidney dysplasia, Gastroesophageal reflux, Patellar aplasia, Knee f... ORPHA:85201
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Nephrocalcinosis, Atrial septal defect OMIM:611087
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Prader-Willi Syndrome Due To Translocation
Small hand, Carious teeth, Micrognathia, Everted lower lip vermilion, Anterior pituitary hypoplas... ORPHA:177907
Immunodeficiency 87 And Autoimmunity
Biventricular hypertrophy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, ... OMIM:619573
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,... OMIM:614868
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Renal agenesis, Decreased muscle mass, Abnormality of the... ORPHA:3027
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Short 5th finger, Small hand, Toe syndactyly, Hydroureter, Gastroesophageal reflux, Single transv... OMIM:610759
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Pectus carinatum, Limitation of joint mobility, Mitral valve prolapse, ... OMIM:236200
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Small hand, Bilateral single transverse palmar creases, Atrial septal defe... ORPHA:459061
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Hernia... OMIM:193700
Cone-Rod Dystrophy 16
Postaxial polydactyly, Optic disc pallor OMIM:614500
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Retrognathia, Unilateral cleft lip, Cleft soft palate, Omphalocele, Cleft palate ORPHA:2736
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Cryptorchidism, Microdontia, Atrial septal defect, Microphthalmia, Hypoplasi... ORPHA:2728
Encephalopathy Due To Sulfite Oxidase Deficiency
Long philtrum, Short nose, Thick vermilion border ORPHA:833
Diamond-Blackfan Anemia 5
Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia... OMIM:612528
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Glutamine Deficiency, Congenital
Wide nasal bridge, Erythema, Depressed nasal bridge, Micromelia, Recurrent respiratory infections... OMIM:610015
Fraser Syndrome
Anophthalmia, Cryptorchidism, Microphthalmia, Anal atresia, High palate, Cleft ala nasi, Orofacia... ORPHA:2052
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary valve morphology, ... ORPHA:500
Short Stature-Micrognathia Syndrome
Rhizomelia, Gastroesophageal reflux, Broad femoral neck, Bowing of the legs, Ventricular septal d... OMIM:617164
Toriello-Carey Syndrome
Anteriorly placed anus, Cardiomyopathy, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Abnorm... ORPHA:3338
Distal Deletion 10Q
Clinodactyly, Atrial septal defect, Anal atresia, High palate, Patent ductus arteriosus, Hip disl... ORPHA:96148
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Prominent scalp veins, Dry skin, Micrognathia, Narrow mouth, Reduced subcutaneous ad... OMIM:264090
Noonan Syndrome 14
Pectus carinatum, Clinodactyly, Hypertrophic cardiomyopathy, Limited elbow extension, Mitral valv... OMIM:619745
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Pectus carinatum, Prominent fingertip pads, Mitral valve prolapse, Joint hypermobility, Arachnoda... OMIM:300986
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Nanophthalmos
Microphthalmia ORPHA:35612
Dworschak-Punetha Neurodevelopmental Syndrome
Unilateral renal hypoplasia, Dilation of Virchow-Robin spaces, Vesicoureteral reflux OMIM:619955
Trisomy 8P
Cryptorchidism, Hernia, Dysplastic aortic valve, Short nose, Short 1st metacarpal, Annular pancre... ORPHA:264450
Developmental And Epileptic Encephalopathy 18
Polyhydramnios, Oligohydramnios, Atrial septal defect OMIM:615476
Teebi-Shaltout Syndrome
High, narrow palate, Aortic valve stenosis, Wide nasal bridge, Broad nasal tip, Underdeveloped na... OMIM:272950
Complement Component 2 Deficiency
Purpura OMIM:217000
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Skin ulcer, Abnormality of the nose, Recurren... ORPHA:900
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Hydronephrosis, Subvalvular aort... OMIM:613001
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab... ORPHA:1451
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural effusion, Genital edem... OMIM:616843
Diamond-Blackfan Anemia 11
Finger aplasia, Bone marrow hypocellularity, Unilateral renal agenesis, Absent thumb, Unilateral ... OMIM:614900
Nephronophthisis 15
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Polydactyly OMIM:614845
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent sinusitis, Eosinophilia, Atrial septal defect, High palate, Recurr... OMIM:618282
Pontocerebellar Hypoplasia, Type 17
Gastroesophageal reflux, Secundum atrial septal defect, Ventricular septal defect, Limb hypertoni... OMIM:619909
Jackson-Weiss Syndrome
Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3... ORPHA:1540
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies OMIM:223350
Caudal Duplication
Intestinal duplication, Cryptorchidism, Omphalocele ORPHA:1756
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Atrial septal defect OMIM:620247
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Ogden Syndrome
Flared nostrils, Everted upper lip vermilion, Facial wrinkling, Thick upper lip vermilion, Microg... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic 35
2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Dilation of Virchow-Robin spaces, Con... OMIM:300998
Senior-Loken Syndrome 8
Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney disease, Hepatic cyst... OMIM:616307
Shprintzen-Goldberg Syndrome
Pectus carinatum, Narrow chest, Osteopenia, Elbow dislocation, Camptodactyly of finger, Umbilical... ORPHA:2462
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Rhizomelia, Distal shortening of limbs, 11 pairs of ribs, Hypoplasia of th... OMIM:300863
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal epiphysis morphology, Abnormal cerebral vascular morphology, Micromelia, Narrow pelvis b... ORPHA:2637
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Choanal atresia, Depressed nasal ridge, Tessier cleft, Bilateral microphthal... OMIM:607597
7Q31 Microdeletion Syndrome
Enuresis nocturna, Galactosuria, Gastroesophageal reflux, Skeletal muscle atrophy, Clinodactyly o... ORPHA:251061
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Optic disc coloboma, Preaxial hand polydactyly, A... ORPHA:1553
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve OMIM:608980
Fontaine Progeroid Syndrome
Micrognathia, Narrow mouth, Protruding tongue, Reduced subcutaneous adipose tissue, Cryptorchidis... OMIM:612289
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Preaxial foot polydactyly, 2-3 toe synda... OMIM:619471
Van Maldergem Syndrome 1
Renal hypoplasia, Clinodactyly, Anteriorly placed anus, Cutaneous finger syndactyly, Short clavic... OMIM:601390
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Patent foramen ovale, Joint hypermobilit... OMIM:619184
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ... ORPHA:124
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Prominent nasal bridge, Micrognathia, O... OMIM:613823
Koolen-De Vries Syndrome
Slender finger, Hip dislocation, Narrow palate, Aortic root aneurysm, Prominent fingertip pads, R... OMIM:610443
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Bruising susceptibility, Abnormal cerebral vascular morphology... ORPHA:3318
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Broad phalanges of the hand, Broad ribs, Joint stiffness, Ventricular sept... OMIM:277600
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Hip dislocation, Small hand, Renal dysplasia, Postaxial polydactyly, Hydronephrosis,... OMIM:300968
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Splenomegaly, Renal ... ORPHA:565612
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Narrow pelvis bone, Femoral ... OMIM:207410
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Supernumerary nipple, Abnormal heart morphology, Submucous cleft hard palate, Vent... ORPHA:457279
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Short distal phalanx of finger, Delayed eruption of teeth, Underdeveloped... OMIM:615866
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Ring Chromosome 10 Syndrome
Wide nasal bridge, Long philtrum, Micrognathia, Aganglionic megacolon, Microphthalmia, Thin vermi... ORPHA:1438
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia involving the nose, Narrow mouth, Situs inversus totalis, Absent... ORPHA:990
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Mitral valve prolapse, Joint h... OMIM:166200
Classic Multiminicore Myopathy
Multiple joint contractures, Right ventricular hypertrophy, Mitral valve prolapse, Hip dysplasia ORPHA:324604
Chromosome 16P13.3 Duplication Syndrome
Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Short nose, Wide n... OMIM:613458
Trisomy 4P
Radial club hand, Camptodactyly of finger, Preaxial hand polydactyly ORPHA:1738
Spondylo-Ocular Syndrome
Long philtrum, Ventricular septal defect, Aplasia/Hypoplasia of the lens, Microphthalmia, Thin ve... ORPHA:85194
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Optic atrophy, Toe syndactyly, Absence of the pulmonary valve, Umbilical h... OMIM:601808
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Subluxation of the small joints of the hand, Dysplasia of the femoral head... ORPHA:536471
C Syndrome
Depressed nasal bridge, Micromelia, Long philtrum, Anteverted nares, Micrognathia, Redundant skin... ORPHA:1308
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Retrognathia, Supernumerary nipple, Bulbous... OMIM:620098
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Abnormal sensory nerve conduction velocity, Axonal degeneration, Abnormal peripher... ORPHA:88628
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Pectus carinatum, Joint contracture of the hand, Osteopenia, Umbilical hernia, Genu va... OMIM:182212
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Oculodentodigital Dysplasia
Toe syndactyly, Finger syndactyly, Clinodactyly, Ventricular septal defect, Short hallux, Palmopl... ORPHA:2710
Meckel Syndrome, Type 10
Malformation of the hepatic ductal plate, Bifid uvula, Postaxial foot polydactyly, Postaxial poly... OMIM:614175
Costello Syndrome
Ulnar deviation of finger, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal... ORPHA:3071
2Q31.1 Microdeletion Syndrome
Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Bulbous nose, Micrognathia, ... ORPHA:251014
Cardiofaciocutaneous Syndrome 2
Peripheral axonal neuropathy, Mitral valve prolapse OMIM:615278
Gabriele-De Vries Syndrome
Sandal gap, Sydney crease, Patent foramen ovale, Distal arthrogryposis, Hallux valgus, Craniosyno... ORPHA:506358
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Depressed nasal bridge, Bifid uvula, Small hand, Long philtrum, Decreased response to growth horm... OMIM:241410
Nance-Horan Syndrome
Abnormality of the dentition, Prominent nose, Prominent nasal bridge, Microphthalmia, Supernumera... ORPHA:627
Castleman Disease
Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, In... ORPHA:160
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Short toe, Widely spaced toes, Umbilical hernia, Joint hypermobility, At... ORPHA:404443
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose ORPHA:2835
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Vesicoureteral reflux, Polydactyly, Atrial septal defect, High palate, Doubl... OMIM:619869
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Solitary median maxillary central in... OMIM:602418
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Aganglionic megaco... OMIM:614207
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gastroesophageal reflux, Right aortic arch, Ventricular septal defect, Metatarsus adductus, Hip d... ORPHA:513456
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Short toe, Long philtrum, Upper limb undergrow... ORPHA:439822
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Supernumerary nipple, Bulbous nose, Micrognathia, Inguinal hernia, Patent foram... OMIM:613884
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Mosaic Variegated Aneuploidy Syndrome
Depressed nasal ridge, Abnormal lung lobation, Stomach cancer, Intestinal polyposis, Abnormal aor... ORPHA:1052
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Bruising susceptibility... ORPHA:49042
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Hypopituitarism, Decreased thyroid-stimulating hormone level, Anteverted ... OMIM:613038
Kagami-Ogata Syndrome
Depressed nasal bridge, Pursed lips, Anteverted nares, Micrognathia, Diastasis recti, Inguinal he... ORPHA:254519
Frontonasal Dysplasia 3
Wide nasal bridge, Tessier cleft, Underdeveloped nasal alae, Microphthalmia, Cleft palate OMIM:613456
Dysosteosclerosis
Short diaphyses, Optic atrophy, Narrow chest, Osteopenia, Facial paralysis, Broad femoral neck, F... OMIM:224300
Van Maldergem Syndrome 2
Renal hypoplasia, Cutaneous syndactyly of toes, Clinodactyly, Anteriorly placed anus, Cutaneous f... OMIM:615546
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Wide nasal bridge, Bruising susceptibility, Short toe, Retrognathia, Microcytic anemia, HbH hemog... ORPHA:98791
Brucellosis
Arteritis, Hypersplenism, Hepatomegaly, Purpura, Endocarditis, Abnormality of the liver, Pleural ... ORPHA:1304
Iga Nephropathy, Susceptibility To, 1
Purpura OMIM:161950
Kleefstra Syndrome 1
Gastroesophageal reflux, Natal tooth, Anteverted nares, Persistence of primary teeth, Conotruncal... OMIM:610253
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thick lower lip vermilion, Anteverted nares, Tented upper lip vermilion, Thin upper lip vermilion... OMIM:619854
14Q22Q23 Microdeletion Syndrome
Downturned corners of mouth, Underdeveloped nasal alae, Diabetes insipidus, Optic nerve aplasia, ... ORPHA:264200
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Sensory axonal neuropathy, Secundum atrial septal defect, Hypertrophic cardiomyopathy, Facial dip... OMIM:619121
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Broad thumb, Bifid uvula, Finger syndactyly, Pyelone... OMIM:181270
Seckel Syndrome 2
Microglossia, Prominent nose, Micrognathia, Microdontia, Microphthalmia OMIM:606744
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Refsum Disease
Anosmia, Cardiomyopathy, Dry skin, Splenomegaly, Microphthalmia, Short metacarpal ORPHA:773
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Poor wound healing, Post-partum hemorrh... ORPHA:465
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Cub... OMIM:620072
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Malar flattening, Short ribs, Short nose OMIM:614524
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Wolf-Hirschhorn Syndrome
Short thumb, Abdominal situs inversus, Preaxial hand polydactyly, Abnormal heart valve morphology... ORPHA:280
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Recurrent respiratory infec... ORPHA:3226
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent foramen ovale, Hydronephrosis, Limb hypertonia, Atrial septal defect, Limb joint contractu... OMIM:620327
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Multiple lipo... ORPHA:210548
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dysplasia of the femoral head, Mitral valve prolapse, Arachnodactyly, Talipes equinovarus, Radiou... ORPHA:536467
Immunoglobulin A Vasculitis
Erythema, Gastrointestinal hemorrhage, Vasculitis, Skin ulcer, Angioedema, Vascular skin abnormal... ORPHA:761
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Ventricular septal defect, Sagittal craniosynostosis, Atrial septal defect, Opt... OMIM:615879
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Sandal gap, Postaxial polydac... OMIM:617102
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormal cerebral vascular morphology, B... ORPHA:758
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... ORPHA:2378
Meckel Syndrome, Type 11
Oligohydramnios, Occipital encephalocele, Polydactyly OMIM:615397
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Anal atresia, Ureteral dysgenesis, Renal agenesis OMIM:274265
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... OMIM:137920
Baraitser-Winter Syndrome 2
Retrognathia, Long philtrum, Thin upper lip vermilion, Orofacial cleft, Microphthalmia, Wide mouth OMIM:614583
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Splenomegaly, Thrombocytopenia ORPHA:721
Snijders Blok-Campeau Syndrome
Umbilical hernia, Joint hypermobility, Perimembranous ventricular septal defect, Atrial septal de... OMIM:618205
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Bruising susceptibility, Mitral valve prolapse, Stroke, Adrenal hypo... ORPHA:230839
Peutz-Jeghers Syndrome
Intestinal bleeding, Bladder polyp, Gastrointestinal carcinoma, Bile duct polyp, Intussusception,... OMIM:175200
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Polycythemia, Abno... ORPHA:116
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Bruising susceptibility, Petechiae, Congenital thrombo... OMIM:313900
Xeroderma Pigmentosum, Complementation Group G
Cutaneous photosensitivity, Microphthalmia OMIM:278780
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Tali... ORPHA:500095
Femoral-Facial Syndrome
Toe syndactyly, Humeroradial synostosis, Encephalocele, Ventricular septal defect, Limited elbow ... OMIM:134780
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Mitral valve prolapse, Joint hypermobility, Bicuspid aortic valve, Right atrial enlargement, Pect... ORPHA:555877
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Poor wound healing, Increased... ORPHA:99889
Chikungunya
Gingival bleeding, Erythema, Epistaxis, Abnormal bleeding, Cervical lymphadenopathy, Petechiae, S... ORPHA:324625
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Atrial septal defect,... ORPHA:505248
Poikiloderma With Neutropenia
Depressed nasal bridge, Recurrent pneumonia, Carious teeth, Retrognathia, Underdeveloped nasal al... OMIM:604173
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downturned corners of mouth, Long philtrum, Anteverted nares, Micrognathia, Dorsocervical fat pad... ORPHA:391408
Joubert Syndrome 3
Stage 5 chronic kidney disease, Atrial septal defect, Nephronophthisis OMIM:608629
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Bruising susceptibility, Pituitary adenoma, Striae distensae, Increased circu... OMIM:219090
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Prominent nose, Micrognathia, Convex nasal ridge, Microphthalmia, Cutane... OMIM:610756
Smith-Kingsmore Syndrome
Depressed nasal bridge, Short distal phalanx of finger, Rhizomelia, Long philtrum, Umbilical hern... OMIM:616638
Ohdo Syndrome, X-Linked
Wide nasal bridge, Depressed nasal bridge, Short thumb, Long philtrum, Widely spaced teeth, Bulbo... OMIM:300895
Brittle Cornea Syndrome
Abnormal epiphysis morphology, Increased susceptibility to fractures, Mitral valve prolapse, Join... ORPHA:90354
Hermansky-Pudlak Syndrome 6
Epistaxis, Recurrent upper respiratory tract infections, Bruising susceptibility, Perineal fistul... OMIM:614075
Diamond-Blackfan Anemia 8
Wide nasal bridge, Thick upper lip vermilion, Short nose OMIM:612563
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Acromesomelia, Unilateral renal agenesis, Toe syndactyly, Gastroesophageal... ORPHA:464306
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Small hand, Aortic root aneurysm, Urinary bladder wall h... ORPHA:280633
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Recurrent aspiration pneumonia, Cleft palate, Syndactyly OMIM:300484
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Finger joint contracture, Malar prominence, Micrognathia, Hypogonadotropic hypogonadism, Micropht... ORPHA:48431
Cushing Disease
Poor wound healing, Increased circulating cortisol level, Increased urinary cortisol level, Lymph... ORPHA:96253
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Cleft upper lip, Supernumerary nipple, Tetralogy o... OMIM:100300
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Umbilical hernia, Elbow flexion contracture, Mitral valve prolapse, Abnormality of th... ORPHA:1900
Pyruvate Dehydrogenase E1-Alpha Deficiency
Gastroesophageal reflux, Single transverse palmar crease, Ventricular septal defect, Abnormal med... ORPHA:79243
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Carious teeth, Tetralogy of Fallot, Bulbous nose, Hypogonadism, Everted... ORPHA:2316
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Tooth malposition, Aortic root aneurysm, Periodontitis, Prominent veins on trunk, Mic... ORPHA:536532
Brittle Cornea Syndrome 1
Palmoplantar cutis laxa, Congenital hip dislocation, Mitral valve prolapse, Joint hypermobility OMIM:229200
Stickler Syndrome, Type I
Abnormal femoral epiphysis morphology, Irregular femoral epiphysis, Joint stiffness, Mitral valve... OMIM:108300
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Hypopl... ORPHA:1786
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Achondrogenesis, Type Ii
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... OMIM:200610
Relapsing Polychondritis
Erythema, Hepatitis, Anteriorly placed anus, Atelectasis, Large vessel vasculitis, Recurrent apht... ORPHA:728
Orofaciodigital Syndrome I
Hepatic fibrosis, Clinodactyly, Radial deviation of finger, Lobulated tongue, Abnormal heart morp... OMIM:311200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Abnormality of the dentition, Restrictive cardiomyopathy, Downturned corn... OMIM:615398
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre... ORPHA:730
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Ventricular septal defect, Metaphyseal chondrodysplasia, Renal cyst, Hallux val... ORPHA:166035
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Dental crowding, Shortening o... OMIM:101600
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect, Cardiomegaly, N... OMIM:620609
Genitopalatocardiac Syndrome
Wide nasal bridge, Downturned corners of mouth, Abnormal mesentery morphology, Abnormality of the... ORPHA:2075
Mogs-Cdg
Optic atrophy, Generalized edema, Overlapping fingers, Thoracic scoliosis, Cardiomegaly, Pulmonar... ORPHA:79330
Myoclonic-Astatic Epilepsy
Wide nasal bridge, Long philtrum, Premature skin wrinkling, Thick nasal alae, Thick lower lip ver... ORPHA:1942
Ablepharon Macrostomia Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Underdevelop... ORPHA:920
Frontometaphyseal Dysplasia
Hypoplasia of the musculature, Joint contracture of the hand, Short distal phalanx of the thumb, ... ORPHA:1826
Shashi-Pena Syndrome
Unilateral renal agenesis, Dilation of Virchow-Robin spaces, Patent ductus arteriosus, Deep palma... OMIM:617190
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Umbilical hernia, Abnormal mitral valve morphology, Brachydactyly, Atrial septal defect, Clinodac... ORPHA:1292
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Renal hyp... ORPHA:959
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Short distal phalanx of finger, Short nasal septum, Short nose OMIM:302950
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Umbilical hernia, Mitral valve prolapse, Cubitus valgus, Pectus excav... OMIM:104350
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Multicystic kidney dysplasia, Renal agenesis, Tetralogy of Fall... OMIM:164210
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Ehlers-Danlos Syndrome, Classic-Like, 1
Poor wound healing, Bruising susceptibility, Atrophic scars, Striae distensae, Quadricuspid aorti... OMIM:606408
Familial Visceral Myopathy
Abdominal situs inversus, Camptodactyly of finger, Umbilical hernia, Arachnodactyly, Aganglionic ... ORPHA:2604
Opitz Gbbb Syndrome
Wide nasal bridge, Gastroesophageal reflux, Unilateral cleft lip, Cleft upper lip, Umbilical hern... OMIM:300000
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Poor wound healing, Subdural hemorrhage... ORPHA:169802
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Pancytopenia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia ORPHA:85321
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Recurrent pneumonia, Long philtrum, Prominent nasal bridge, Gingival overgrowt... OMIM:619179
Jacobsen Syndrome
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Duodenal atresia, Short nose, H... ORPHA:2308
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Anter... ORPHA:26793
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Smooth philtrum, Everted lower ... ORPHA:261144
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Hypochromic anem... ORPHA:99147
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Choanal atresia, Retrognathia, Prominent nasal bridge, Ventricular septal defect, High palate, Pa... ORPHA:52055
Congenital Varicella Syndrome
Atypical scarring of skin, Micromelia, Microphthalmia ORPHA:291
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Crypto... ORPHA:3472
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Convex nasal ridge, Short nose OMIM:200130
Cerebellofaciodental Syndrome
Proximal femoral epiphysiolysis, Slender long bone, Genu valgum, Single transverse palmar crease,... OMIM:616202
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Contracture of the proximal interphalangeal joint of the 5th finge... OMIM:618109
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Anteverted nares, Malar flattening, Short metatarsal, Mandibular prognath... OMIM:614613
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent pneumonia, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus... OMIM:617751
Aredyld Syndrome
Abnormal pelvic girdle bone morphology, Abnormality of the ureter, Splenomegaly, Brachydactyly, H... ORPHA:1133
8P11.2 Deletion Syndrome
Splenomegaly, Mitral valve prolapse, Talipes equinovarus, Spherocytosis, Atrial septal defect, Hi... ORPHA:251066
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent fractures, Reduced bone mineral density, Atrial septal defect, Joint hypermobility OMIM:619115
Gm1 Gangliosidosis
Gastroesophageal reflux, Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Car... ORPHA:354
Eec Syndrome
Choanal atresia, Carious teeth, Xerostomia, Tooth agenesis, Abnormal dental enamel morphology, Dr... ORPHA:1896
Nanophthalmos 4
Microphthalmia OMIM:615972
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortic roo... OMIM:620025
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Retrognathia, Thick nasal alae, Micrognathia, Short nose ORPHA:163961
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Patent foramen ovale, Short humerus, Short ribs, Talipes equ... OMIM:607143
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Abnormal lung lobation, Micrognathia, Narrow mouth, Crypto... ORPHA:3301
Coffin-Siris Syndrome 4
Everted upper lip vermilion, Ventricular septal defect, Atrial septal defect, Patent ductus arter... OMIM:614609
Bartsocas-Papas Syndrome 2
Small hand, Micrognathia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Accessory ... OMIM:619339
Joubert Syndrome 37
Wide nasal bridge, Decreased testicular size, Anteverted nares, Cryptorchidism, Microphthalmia, H... OMIM:619185
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, High palate, Short nose OMIM:618774
Cap Myopathy
Pectus excavatum, Facial palsy, Mitral valve prolapse, Thoracic scoliosis ORPHA:171881
X-Linked Ehlers-Danlos Syndrome
Gastroesophageal reflux, Bruising susceptibility, Umbilical hernia, Inguinal hernia, Hernia ORPHA:75497
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Nicolaides-Baraitser Syndrome
Wide nasal base, Short lingual frenulum, Cryptorchidism, Excessive wrinkled skin, Everted lower l... OMIM:601358
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia OMIM:273900
Cerebrocostomandibular Syndrome
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra... OMIM:117650
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Malar flattening, Cryptorc... OMIM:257300
Fanconi Anemia, Complementation Group E
Absent thumb, Bruising susceptibility, Short thumb, Leukemia, Abnormal heart morphology, Pancytop... OMIM:600901
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Small hand, Hypoplasia of the maxilla, Dental... OMIM:257850
Cutis Laxa, Autosomal Recessive, Type Iia
Carious teeth, Long philtrum, Anteverted nares, Redundant skin, Inguinal hernia, Excessive wrinkl... OMIM:219200
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Smooth philtrum, Short nose, Optic ... OMIM:618828
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Gastroesophageal reflux, Cleft upp... ORPHA:819
Bardet-Biedl Syndrome 1
High, narrow palate, Hepatic fibrosis, Postaxial foot polydactyly, Radial deviation of finger, Bi... OMIM:209900
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Carious teeth, Diastema, Intestinal malrotation, Anteverted nares, Microg... OMIM:244450
Amyloidosis, Finnish Type
Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic synd... OMIM:105120
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Li... OMIM:617595
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Broad thumb, Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly, ... OMIM:309520
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Depressed nasal bridge, Broad nasal tip, Long philtrum, Thick lower lip vermilion, Anteverted nar... OMIM:152950
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial hand polydactyly,... OMIM:614120
Marfanoid-Progeroid-Lipodystrophy Syndrome
High, narrow palate, Aortic root aneurysm, Bruising susceptibility, Progeroid facial appearance, ... OMIM:616914
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Abnormal sternum morphology, Cardiac rhabdomyoma,... OMIM:109400
You-Hoover-Fong Syndrome
Clinodactyly, Coarctation of aorta, Brachydactyly, Double aortic arch, Cleft palate, Vascular ring OMIM:616954
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Hydroureter, Abnormal heart morphology, Hydronephrosis, Fetal megacystis OMIM:619362
Distal Deletion 3P
Downturned corners of mouth, Long philtrum, Atrioventricular canal defect, Anteverted nares, Micr... ORPHA:1620
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Poor wound healing, Bruising susceptibility, Short toe, Umbilical hernia, Spon... OMIM:225410
Omodysplasia 1
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Short tibia, Long philtrum, Umbilical hern... OMIM:258315
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Single transverse palmar crease, Patent foramen ovale, Hyposegmentation of neutrophil nuclei, Atr... OMIM:620075
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Koolen-De Vries Syndrome
High, narrow palate, Vesicoureteral reflux, Renal duplication, Arachnodactyly, Bicuspid aortic va... ORPHA:96169
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Atrial septal defect, R... OMIM:610978
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Tracheoes... OMIM:614083
Linear Skin Defects With Multiple Congenital Anomalies 1
Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic hernia, Histiocytoid cardiomyop... OMIM:309801
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Waardenburg Syndrome Type 1
Wide nasal bridge, Underdeveloped nasal alae, Cleft upper lip, Tented upper lip vermilion, Agangl... ORPHA:894
Leukodystrophy, Hypomyelinating, 10
Long philtrum, Bulbous nose, Anteverted nares, Malar flattening, Smooth philtrum, Thin vermilion ... OMIM:616420
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Pectus carinatum, Carpal synostosis, Elbow flexion contracture, Elbow contracture, Cutaneous fing... OMIM:178110
Acrodysostosis
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Dela... ORPHA:950
Pallister-Killian Syndrome
Aortic valve stenosis, Small hand, Supernumerary nipple, Micrognathia, Congenital diaphragmatic h... OMIM:601803
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Lymphopenia, Hepatosplenomegaly, Abnormal intestine morph... ORPHA:391487
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Adams-Oliver Syndrome 2
Depressed nasal bridge, Bulbous nose, Cutis marmorata, Micrognathia, Microphthalmia, Short middle... OMIM:614219
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Distal upper limb muscle weakness, Skeletal muscle atrophy, Quadr... ORPHA:70
Hajdu-Cheney Syndrome
Aortic valve stenosis, Periodontitis, Open bite, Dry skin, Micrognathia, Narrow mouth, Ventricula... ORPHA:955
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Absent radius, Micrognathia, Wide nose, Narrow mouth, Miss... OMIM:251230
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Cornelia De Lange Syndrome 6
Gastroesophageal reflux, Short 1st metacarpal, Atrioventricular canal defect, Clinodactyly of the... OMIM:620568
X-Linked Intellectual Disability, Cantagrel Type
Short philtrum, Tented upper lip vermilion, Short nose ORPHA:85277
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior ... OMIM:618775
Tetrasomy 5P
Wide nasal bridge, Recurrent respiratory infections, Long philtrum, Anteverted nares, Micrognathi... ORPHA:3309
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... OMIM:254450
Chromosome 8Q21.11 Deletion Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Micrognathia, Cryptorc... OMIM:614230
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Pleural effusion, Camptodactyly, Pericard... OMIM:617822
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Narrow mouth, Joint contracture of the 5th finger, Cryptorchidism, Atrial s... ORPHA:363611
Carey-Fineman-Ziter Syndrome
Long philtrum, Aplasia/Hypoplasia of the tongue, Anteverted nares, Micrognathia, Thin vermilion b... ORPHA:1358
Monosomy 13Q34
Hematochezia, Postaxial foot polydactyly, Hepatic steatosis, Postaxial hand polydactyly, Common a... ORPHA:96168
Wiedemann-Steiner Syndrome
Short 5th finger, Small hand, Short toe, Short middle phalanx of finger, Long hallux, Contracture... OMIM:605130
Robinow Syndrome, Autosomal Recessive 1
Small hand, Micrognathia, Cryptorchidism, Mesomelic arm shortening, Short nose, Downturned corner... OMIM:268310
Peroxisome Biogenesis Disorder 1A (Zellweger)
Protruding tongue, Ventricular septal defect, Talipes equinovarus, Hepatomegaly, High palate, Alb... OMIM:214100
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Absent thumb, Bruising susceptibility, Short thumb, Absent radius, P... OMIM:227645
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys OMIM:617914
Intellectual Developmental Disorder, Autosomal Dominant 1
Depressed nasal ridge, Mandibular prognathia, Downturned corners of mouth, Retrognathia, Widely s... OMIM:156200
Meester-Loeys Syndrome
Bifid uvula, Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Poor wound heali... OMIM:300989
Tetrasomy 18P
Thin vermilion border, Narrow mouth, Long philtrum, Short nose ORPHA:3307
De Barsy Syndrome
Congenital hip dislocation, Prominent veins on trunk, Decreased muscle mass, High palate, Ventric... ORPHA:2962
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Toe syndactyly, Dilation of Virchow-Robin spaces, Broad thumb, Gastroesophageal reflux, Single tr... OMIM:619720
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bronchiectasis, Descending aortic dissection, Bruising susceptibility, Ascending aortic dissection OMIM:620080
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Mitral valve prolapse, Polydactyly, Neph... ORPHA:137605
Fanconi Anemia, Complementation Group A
Absent thumb, Bruising susceptibility, Short thumb, Leukemia, Abnormal heart morphology, Pancytop... OMIM:227650
Trichothiodystrophy 3, Photosensitive
Carious teeth, Meckel diverticulum, Natal tooth, Bilateral cryptorchidism, Lymphopenia, Neutropen... OMIM:616395
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Distal Deletion 6P
Depressed nasal bridge, Abnormality of the dentition, Downturned corners of mouth, Underdeveloped... ORPHA:96125
Van Esch-O'Driscoll Syndrome
Bifid uvula, Depressed nasal bridge, Retrognathia, Downturned corners of mouth, Ventricular septa... OMIM:301030
Bcard Syndrome
Abnormality of the dentition, Contracture of the proximal interphalangeal joint of the 2nd finger... OMIM:612394
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Renal insufficiency, Polydactyly, Postaxial polydactyly, Brachydactyl... OMIM:615986
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Galactosuria, Hepatic failure, Bifid uvula, Tetralogy of Fallot, Cholestasis, A... OMIM:222470
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Hepatic failure, Increas... OMIM:620367
Primary Sjögren Syndrome
Arteritis, Xerostomia, Dry skin, Cutis marmorata, Lymphopenia, Decreased proportion of CD4-positi... ORPHA:289390
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Congenital diaphragm... OMIM:154400
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Aspiration pneumonia, Anteverted nares,... OMIM:616430
Rothmund-Thomson Syndrome, Type 2
Small hand, Premature graying of hair, Micrognathia, Cryptorchidism, Telangiectasia, Microphthalm... OMIM:268400
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Depressed nasal bridge, Natal tooth, Volvulus, Micrognathia, Recurrent... OMIM:617802
Zellweger Syndrome
Multicystic kidney dysplasia, Hepatic failure, Epiphyseal stippling, Ventricular septal defect, H... ORPHA:912
Cardiofaciocutaneous Syndrome 1
Pectus carinatum, Osteopenia, Hypertrophic cardiomyopathy, Optic nerve dysplasia, Cubitus valgus,... OMIM:115150
Larsen Syndrome
Pectus carinatum, Hip dislocation, Elbow dislocation, Tracheomalacia, Accessory carpal bones, Ven... OMIM:150250
Toluene Embryopathy
Hypoplasia of the zygomatic bone, Micrognathia, Smooth philtrum, Thin vermilion border, Short nose ORPHA:1920
Noonan Syndrome
Dilatation of the renal pelvis, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Ab... ORPHA:648
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Depressed nasal bridge, Conical tooth, Abnormality of the dentition, Underdeveloped nasal alae, H... ORPHA:228390
Al Kaissi Syndrome
High, narrow palate, Small hand, Clinodactyly, Deep palmar crease, Atrial septal defect, Torticollis OMIM:617694
Blomstrand Lethal Chondrodysplasia
Mesomelia, Depressed nasal bridge, Rhizomelia, Aplastic clavicle, Natal tooth, Long philtrum, Dis... ORPHA:50945
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Microscopic Polyangiitis
Erythema, Gastrointestinal hemorrhage, Vasculitis, Epistaxis, Skin ulcer, Subcutaneous hemorrhage... ORPHA:727
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Ventricular sept... ORPHA:217346
Bainbridge-Ropers Syndrome
Supernumerary nipple, Micrognathia, Cryptorchidism, Everted lower lip vermilion, High palate, Sho... OMIM:615485
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadeno... OMIM:603554
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Hepatosplenomegaly, Ventricular septal defect, Talipes equinovarus, Elevated circula... OMIM:614866
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia OMIM:614402
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Clinodactyly, Upper eyelid edema, Patent foramen ovale, Meta... ORPHA:293939
Lateral Meningocele Syndrome
Keloids, Dental crowding, Long philtrum, Umbilical hernia, Micrognathia, Inguinal hernia, Malar f... OMIM:130720
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Hypoplasia of the maxilla, Micrognathia, Decreased pineal volume, En... OMIM:301108
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Respiratory tract infection, High palate, Flexion c... OMIM:218000
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis, Gastroesophageal reflux, Splenomegaly, Anemia, Thr... OMIM:230900
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... OMIM:616176
Fibromuscular Dysplasia, Multifocal
Pulmonary artery aneurysm, Celiac artery dissection, Dental crowding, Tortuous cerebral arteries,... OMIM:619329
Diamond-Blackfan Anemia 10
Choanal atresia, Morgagni diaphragmatic hernia, Micrognathia, Congenital diaphragmatic hernia, Ma... OMIM:613309
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Micrognathia, Perineal fistula, Absent testis, Rectal atresia, A... ORPHA:2753
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Pectus carinatum, Joint contracture of the hand, Umbilical hernia, Prematur... OMIM:611962
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Wide nasal bridge, Abnormality of the dentition, Skin ulcer, Atelectasis, Generalized... ORPHA:2314
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Large vessel vasculitis, Unilateral renal hypoplasia, Ren... ORPHA:49041
Phosphoribosylaminoimidazole Carboxylase Deficiency
Depressed nasal bridge, Choanal atresia, Bilateral choanal atresia, Anteverted nares, Missing rib... OMIM:619859
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Bulbous nose, Thin upper lip vermilion, Short nose OMIM:620292
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Supernumerary nipple, Abn... ORPHA:1812
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Multiple Benign Circumferential Skin Creases On Limbs
Long philtrum, Umbilical hernia, Micrognathia, Inguinal hernia, Cryptorchidism, Microphthalmia, C... ORPHA:2505
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Preaxial polydactyly ORPHA:163681
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Mi... ORPHA:245
Frontonasal Dysplasia 2
Wide nasal bridge, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Conical tooth,... OMIM:613451
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Sandal gap, Ureteropelvic junction obstruction, Patent forame... OMIM:617557
Branchiooculofacial Syndrome
Premature graying of hair, Supernumerary nipple, Ectopic thymus tissue, Micrognathia, Anophthalmi... OMIM:113620
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Bulbous nose, Anteverted nares, Open mouth, Absent nasal bridge, Orofacial cle... ORPHA:261211
Joubert Syndrome 39
Hypoplastic left heart, Postaxial polydactyly, Polycystic kidney dysplasia, Joint contracture of ... OMIM:619562
Joubert Syndrome 21
Anophthalmia, Chronic sinusitis, Short ribs, Splenomegaly, Dysphagia, Single naris, Pulmonary hyp... OMIM:615636
Hallermann-Streiff Syndrome
High, narrow palate, Choanal atresia, Small hand, Abnormality of the dentition, Natal tooth, Abdo... ORPHA:2108
8Q21.11 Microdeletion Syndrome
Abnormality of the dentition, Downturned corners of mouth, Underdeveloped nasal alae, Camptodacty... ORPHA:284160
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Nephrocalcinosis, Restrictive cardiomyopathy, Abnormality of the urinary sys... ORPHA:369837
Phace Syndrome
Ectopic thyroid, Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal c... ORPHA:42775
Pterygium Colli, Isolated
Short nose OMIM:177990
Mucopolysaccharidosis Type 2
Optic atrophy, Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints... ORPHA:580
19P13.3 Microduplication Syndrome
Clinodactyly, Ventricular septal defect, Long fingers, Hip dysplasia, Osteoporosis, Hip subluxati... ORPHA:447980
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Trisomy 10P
Depressed nasal bridge, Gastroesophageal reflux, Abnormality of the nose, Short toe, Retrognathia... ORPHA:171929
Distal Deletion 12Q
Overlapping toe, Large hands, Polycystic kidney dysplasia, Duodenal atresia, Ectopic kidney, Pate... ORPHA:96149
Acrorenal-Mandibular Syndrome
Narrow palate, Hypoplastic scapulae, Toe syndactyly, Renal agenesis, Rudimentary fibula, Aplasia ... OMIM:200980
Thauvin-Robinet-Faivre Syndrome
Long hallux, Bifid ureter, Transient neutropenia, Mitral valve prolapse, Ventricular septal defec... OMIM:617107
Gapo Syndrome
High, narrow palate, Depressed nasal bridge, Eruption failure, Long philtrum, Umbilical hernia, R... OMIM:230740
Peho Syndrome
Tented upper lip vermilion, Open mouth, Retrognathia, Short nose OMIM:260565
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Thin upper lip vermili... ORPHA:1295
Myopathy With Extrapyramidal Signs
Elevated circulating hepatic transaminase concentration, Leukocytosis, Splenomegaly, Ventricular ... OMIM:615673
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Depressed nasal bridge, Gastroesophageal reflux, Microretrognathia, Underd... OMIM:616835
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Feingold Syndrome
Depressed nasal bridge, Annular pancreas, Duodenal atresia, Abnormality of the spleen, Anteverted... ORPHA:1305
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Broad phalanges of the hand, Short finger, Elbow flexion contracture, Broa... OMIM:608328
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Retrognathia, Atrioventricular canal defect, Bulbous nose, Prominent nose, Micrognat... ORPHA:3047
Cardiofaciocutaneous Syndrome
Optic atrophy, Palmoplantar keratoderma, Lymphedema, Hypertrophic cardiomyopathy, Abnormal heart ... ORPHA:1340
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Anemic pallor, Neutropenia, Absent radius, Microphthalmia, Leukemia... OMIM:227646
Rauch-Steindl Syndrome
Bilateral renal hypoplasia, Hyperechogenic kidneys, Exocrine pancreatic insufficiency, Hepatomega... OMIM:619695
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Broad columella, Downturned corners of mouth, Widely spaced teeth, Open m... OMIM:617865
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Monoclonal light chain cardia... ORPHA:85443
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Hypoplastic ischia, Hypospadias, Polydactyly OMIM:616910
Microphthalmia, Syndromic 1
Joint contracture of the hand, Clinodactyly, Renal hypoplasia/aplasia, Bicuspid aortic valve, Ana... OMIM:309800
Frontometaphyseal Dysplasia 2
Broad thumb, Decreased muscle mass, Hip contracture, Bicuspid aortic valve, Talipes equinovarus, ... OMIM:617137
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Orofaciodigital Syndrome X
Finger aplasia, Depressed nasal bridge, Retrognathia, Fibular aplasia, Cleft palate OMIM:165590
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Abnormally large globe, Broad nasal tip, Long philtrum, Prominent nasal bridge... OMIM:300749
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Dilatation of the sinus of Valsalva, High palate, Patent ductus arteri... ORPHA:284984
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Hepatic cysts, Polydactyly, Brachydactyly, Short long bone OMIM:613819
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Vasculitis, Erythema, Bruising susceptibility, Fasciitis, Leukocytosis, Splenomegaly,... ORPHA:32960
Isolated Cleft Lip
Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Situs inversus totali... ORPHA:199302
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Palpable purpura, Cerebral vasculitis, Cardiomyopathy, Cutis m... ORPHA:48435
Intellectual Developmental Disorder, Autosomal Dominant 47
Joint hypermobility, Increased nuchal translucency, Ventricular septal defect OMIM:617635
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft palate ORPHA:1473
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Hypoplasia of the maxilla, Cleft upper lip, Supernumerary nipple, Decreased re... OMIM:213980
Ruvalcaba Syndrome
Small hand, Dental crowding, Micromelia, Narrow mouth, Inguinal hernia, Cryptorchidism, Delayed p... ORPHA:3121
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Contractures of the large joints, Recurrent respiratory infections, Microgna... ORPHA:329178
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... ORPHA:672
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Coarse metaphyseal trabecularization, Flared metaphysis, Ventricular septal defect, Thickened cor... OMIM:620558
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Choanal atresia, Broad alveolar ridges, Gastroesophageal reflux, Annular pancreas, Cleft lip, Fur... OMIM:616975
Marshall Syndrome
Depressed nasal bridge, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long phi... OMIM:154780
Fetal Hydantoin Syndrome
Depressed nasal ridge, Short distal phalanx of finger, Cryptorchidism, Hernia, Everted lower lip ... ORPHA:1912
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Xerostomia, Hydronephrosis, Talipes equinovarus, Anal at... OMIM:100100
Micro Syndrome
Wide nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Short philtrum, Delayed pubert... ORPHA:2510
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Broad femoral neck, Broad ribs, Sclerosis of skull base, Optic nerve compression, ... OMIM:619727
Schinzel-Giedion Syndrome
Abnormality of the ureter, Overlapping toe, Overlapping fingers, Radioulnar synostosis, Hepatobla... ORPHA:798
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Occipital encephalocele, Thoracic hypoplasia, Twelfth rib hypoplasia, Rhiz... ORPHA:397715
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia OMIM:300915
Bladder Exstrophy
Umbilical hernia, Intestinal malrotation, Inguinal hernia, Abnormality of the anus, Omphalocele, ... ORPHA:93930
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Myopa... ORPHA:1876
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Diastasis recti, Polydactyly, Clinodactyly of the 5th finger, High palate, Upper limb asymmetry ORPHA:231140
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Palmoplantar keratoderma, Myofiber disarray, Polyhydramnios, Patent foram... OMIM:620519
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Warburg Micro Syndrome 3
Downturned corners of mouth, Decreased testicular size, Micrognathia, Microphthalmia, Narrow pala... OMIM:614222
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Pontocerebellar Hypoplasia, Type 8
Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Talipes equinovarus, Dy... OMIM:614961
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Renal agenesis, Horseshoe kidney, Bowed forearm bones, Vascular dilatation, Absent ... OMIM:602200
Rhombencephalosynapsis
Microretrognathia, Anteverted nares, Narrow mouth, Aganglionic megacolon, Tracheoesophageal fistu... ORPHA:59315
Marshall-Smith Syndrome
Choanal atresia, Retrognathia, Anteverted nares, Gingival overgrowth, Open mouth, Protruding tong... ORPHA:561
Fragile X Syndrome
Mitral valve prolapse, Joint hypermobility ORPHA:908
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Limitation of joint mobility, Cardiomyopathy, Camptodactyly of finger, Abnormal he... ORPHA:217085
Kinsship Syndrome
Renal hypoplasia, Gastroesophageal reflux, Horseshoe kidney, Ankyloglossia, Single transverse pal... OMIM:619297
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Narrow nose, Lymphopenia, Recurrent sinusitis, T lymphocytopenia, Hypothyroidism, Lymp... OMIM:607944
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Megacystis, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal ... ORPHA:209905
Raine Syndrome
Depressed nasal bridge, Choanal atresia, Mandibular prognathia, Natal tooth, Micromelia, Wide mou... OMIM:259775
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Hydrourete... OMIM:269150
Cockayne Syndrome
Vascular calcification, Urinary incontinence, Renal hypoplasia, Unilateral renal agenesis, Retina... ORPHA:191
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Micrognathia, Inguinal hernia, Missing ribs, Abnor... OMIM:608022
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Long philt... OMIM:123700
Hallermann-Streiff Syndrome
Natal tooth, Dry skin, Micrognathia, Narrow mouth, Cryptorchidism, Telangiectasia, Everted lower ... OMIM:234100
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopa... OMIM:617506
Familial Multiple Lipomatosis
Bowing of the long bones, Abnormal tricuspid valve morphology ORPHA:199276
Primary Release Disorder Of Platelets
Abnormal bleeding, Bruising susceptibility, Menorrhagia, Spontaneous, recurrent epistaxis OMIM:176630
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Small hand, Intestinal malrotation, Malar flattening, Sh... ORPHA:93259
Whim Syndrome
Cellulitis, Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphad... ORPHA:51636
Cat-Eye Syndrome
Anal atresia, Microphthalmia ORPHA:195
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis, Ventricular septal defect OMIM:616901
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Conge... ORPHA:93271
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Microphthalmia ORPHA:324416
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Mend Syndrome
Aortic valve stenosis, Asymmetry of the mouth, Abnormal heart morphology, Prominent nasal bridge,... ORPHA:401973
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Patent foramen ovale, Nephrolithiasis, Ventricular septal defect, Left... OMIM:615474
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... OMIM:252100
Myhre Syndrome
Aortic valve stenosis, Hypoplasia of the maxilla, Cleft lip, Short toe, Short finger, Prominent n... OMIM:139210
Microcephaly 30, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Increased nuchal translucency, Secundum atrial septal defect OMIM:620183
Frontofacionasal Dysplasia
Bifid uvula, Hypoplasia of the frontal bone, Underdeveloped nasal alae, Cleft upper lip, Midline ... OMIM:229400
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Limitation of joint mobility, Cardiomyopathy, Camptodactyly of finger, Abnormal he... ORPHA:217093
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Facial wrinkling, Micrognathia, Cryptorchidism, Anal atresia, Choa... OMIM:305450
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Malar flattening, Smooth philtrum, Thin vermilion border, High palate, Short nose OMIM:601853
Slc35A1-Cdg
Cellulitis, Pneumonia, Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hem... ORPHA:238459
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Cholestasis, Leukocytosis, Skin vesicle, Eosinophilia, Lymphadenopathy, Neutropenia... ORPHA:293173
Grange Syndrome
Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis, Carotid artery stenosis OMIM:602531
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Horseshoe kidney, Ventricular septal defect, Metaphyseal chondrod... OMIM:250410
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Clinodactyly, Polyhydramnios, Ventricular septal defect, Joint hypermobility, Atrial septal defec... OMIM:617360
Vici Syndrome
Cardiomyopathy, Renal tubular acidosis, Ureteral atresia, High palate, Recurrent respiratory infe... ORPHA:1493
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Hydrocephalus, Atrial septal defect, Right atrial enlargement, Communicating hydro... OMIM:615219
Congenital Disorder Of Glycosylation, Type Iq
Depressed nasal bridge, Microcytic anemia, Dry skin, Cutis laxa, Microphthalmia, Dysphagia OMIM:612379
Scleromyxedema
Abnormal pulmonary artery morphology, Gastroesophageal reflux, Abnormal coronary artery morpholog... ORPHA:167635
Antley-Bixler Syndrome
Choanal atresia, Hypoplasia of the zygomatic bone, Long philtrum, Anteverted nares, Narrow mouth,... ORPHA:83
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, T... OMIM:618462
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral valve prol... OMIM:613795
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site, Abnorma... ORPHA:168563
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri... OMIM:612098
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Trichothiodystrophy 1, Photosensitive
Retrognathia, Hypogonadism, Dry skin, Absence of subcutaneous fat, Intestinal obstruction, Telang... OMIM:601675
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Tented philtrum, Retrognathia, Anteverted nares, Gingi... ORPHA:363659
Cenani-Lenz Syndrome
High, narrow palate, Short thumb, Micromelia, Abnormal dental enamel morphology, Foot oligodactyl... ORPHA:3258
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... ORPHA:99094
Trisomy 20P
Abnormality of the dentition, Downturned corners of mouth, Umbilical hernia, Camptodactyly of fin... ORPHA:261318
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Lipomas of eyelids, Microph... OMIM:167730
Ring Chromosome 7 Syndrome
Wide nasal bridge, Bifid uvula, Small hand, Short 5th finger, Narrow naris, Hypogonadism, Antever... ORPHA:1449
Zttk Syndrome
Small hand, Absent gallbladder, Narrow mouth, Ventricular septal defect, Atrial septal defect, Hi... OMIM:617140
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Diastasis recti, Cryptorchidis... OMIM:130650
Iniencephaly
Rhizomelia, Absent vertebra, Narrow mouth, Congenital diaphragmatic hernia, Orofacial cleft, Omph... ORPHA:63259
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short columella, Aganglio... OMIM:613603
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, Cardiac fibroma, Ovaria... ORPHA:77301
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Hip dysplasia, Facial hypotonia, High palate OMIM:618798
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Mitral stenosis, Knee flexion contracture, ... OMIM:619461
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Aplasia/Hypoplasia of the thumb, Short hallux, Short palm, High palate, S... ORPHA:93258
Septooptic Dysplasia
Polydactyly, Short finger, Optic nerve hypoplasia OMIM:182230
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Lathosterolosis
Intrahepatic cholestasis, Hepatic fibrosis, Long philtrum, Thick upper lip vermilion, Foam cells ... OMIM:607330
Factor Vii Deficiency
Epistaxis, Joint hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after... OMIM:227500
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Anteverted nares, Cleft soft palate, Micrognathia, Cryptorchidism, Submucous c... ORPHA:2282
Garg-Mishra Progeroid Syndrome
Dental crowding, Bulbous nose, Micrognathia, Prominent nasal bridge, Microvesicular hepatic steat... OMIM:620601
Eisenmenger Syndrome
Bacterial endocarditis, Increased mean corpuscular volume, Tetralogy of Fallot, Abnormal heart mo... ORPHA:97214
Pauci-Immune Glomerulonephritis
Arteritis, Pulmonary hemorrhage, Oral ulcer, Abnormality of the pulmonary vasculature, Abnormalit... ORPHA:93126
Treacher Collins Syndrome 3
Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate OMIM:248390
Faciocardiomelic Syndrome
Osteopenia, Narrow chest, Slender long bone, Hypoplastic pelvis, Polydactyly, Thin bony cortex, C... OMIM:612731
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Multiple bladder diverticula, Urethral... ORPHA:90349
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Patent foramen ovale, Ventri... OMIM:618748
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Short thumb, Microphthalmia OMIM:609054
Alazami Syndrome
Slender long bone, Atrial septal defect ORPHA:319671
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... ORPHA:231401
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Wide nasal bridge, Conical tooth, Dental malocclusion, Thick nasal alae, Persistence of primary t... OMIM:618727
Desbuquois Dysplasia 1
Depressed nasal bridge, Microretrognathia, Short 1st metacarpal, Long philtrum, Narrow mouth, Mal... OMIM:251450
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia OMIM:266810
Treacher Collins Syndrome 1
Choanal atresia, Bilateral microphthalmos, Abnormal heart morphology, Cleft soft palate, Microgna... OMIM:154500
Ablepharon-Macrostomia Syndrome
Hypoplasia of the zygomatic bone, Anteriorly placed anus, Premature skin wrinkling, Dry skin, Red... OMIM:200110
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Loeys-Dietz Syndrome 1
Hypoplasia of the musculature, Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Bicus... OMIM:609192
Ataxia-Telangiectasia
Female hypogonadism, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Recurrent ... OMIM:208900
Ohdo Syndrome, Sbbys Variant
Depressed nasal bridge, Dilated cardiomyopathy, Bulbous nose, Micrognathia, Microdontia, Thin upp... OMIM:603736
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Ring Chromosome 12 Syndrome
High, narrow palate, Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Gla... ORPHA:1439
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
2-3 toe cutaneous syndactyly, High palate, Gastroesophageal reflux, Secundum atrial septal defect OMIM:620242
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Open mouth, Tented upper lip v... OMIM:618430
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Micrognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Deep p... OMIM:619833
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall... ORPHA:2211
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Submucous cleft hard... OMIM:619103
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Polydactyly OMIM:614465
Galloway-Mowat Syndrome 3
Micrognathia, Narrow mouth, Hiatus hernia, Coarctation of aorta, Microphthalmia, Camptodactyly, H... OMIM:617729
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Hypoplastic nipples, Microphth... OMIM:156610
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Genu valgum, Ventricular septal defect, Hydronephrosis, Gastrointestinal ... OMIM:617798
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Sensory axonal neuropathy, Cardiomyopathy, Mitral valve prolapse, Facial palsy OMIM:258450
Vici Syndrome
Everted upper lip vermilion, Lymphopenia, Micrognathia, Decreased proportion of CD4-positive help... OMIM:242840
Frontorhiny
Hypoplasia of the maxilla, Camptodactyly of finger, Hypopituitarism, Hypoplastic frontal sinuses,... ORPHA:391474
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal tibia morphology, Schwannoma, Abnormal heart morphology, Genu valgum, Hypertrophic cardi... ORPHA:363700
Lymphatic Malformation 13
Lymphedema, Ascites, Patent foramen ovale, Nonimmune hydrops fetalis, Neonatal death, Atrial sept... OMIM:620244
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Abdominal wall defect, Retrogna... ORPHA:96191
Cranioectodermal Dysplasia 3
Rhizomelia, Peripheral pulmonary artery stenosis, 2-4 toe syndactyly, Sandal gap, Nephronophthisi... OMIM:614099
Bdv Syndrome
Micropenis, Atrial septal defect OMIM:619326
Dubowitz Syndrome
Wide nasal bridge, Gastroesophageal reflux, Broad nasal tip, Velopharyngeal insufficiency, Cariou... OMIM:223370
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Anteriorly placed anus, Tibial torsion, Overlapping toe, Vesicoureteral reflux, ... OMIM:618653
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Cerebrocostomandibular Syndrome
Posterior rib gap, Hydranencephaly, Tracheomalacia, Myelomeningocele, Bell-shaped thorax, Ventric... ORPHA:1393
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormality of the ureter, Abnormal hip bone morphology, Hyposp... ORPHA:2522
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Renal hypoplasia, Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Sho... ORPHA:2363
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Micromelia, Absent pulmonary artery, Crumpled long bones, Hydronephrosis, Femoral ret... OMIM:610682
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Recurrent upper respiratory tract infections, Carious teeth, Hypoplasia of... OMIM:253010
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Bilateral microphthalmos, Long p... ORPHA:2563
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Narrow mouth, Malar flattening, Thin upper lip vermilio... ORPHA:357001
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Genu valgum, Gastrointestinal angiodysplasia, Hepatic steato... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Genu valgum, Gastrointestinal angiodysplasia, Hepatic steato... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Genu valgum, Gastrointestinal angiodysplasia, Hepatic steato... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Genu valgum, Gastrointestinal angiodysplasia, Hepatic steato... ORPHA:881
Cutis Laxa, Autosomal Recessive, Type Iic
Hand clenching, Nephrocalcinosis, Biventricular hypertrophy, Overlapping toe, Median cleft palate... OMIM:617402
Houge-Janssens Syndrome 2
Broad hallux, Deviation of the 5th finger, Joint hypermobility, Postaxial polydactyly, Hydrocepha... OMIM:616362
Mucolipidosis Type Ii
Hip dislocation, Narrow chest, Limitation of joint mobility, Cardiomyopathy, Umbilical hernia, De... ORPHA:576
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Type II diabetes mellitus, Coronary artery stenosis OMIM:615812
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Joint hemorrhage, Abnormal bleeding, Bruising susceptibility, Hemothorax, Abno... ORPHA:79
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, Long philtrum, Microphthalmia OMIM:615877
Chondrodysplasia, Blomstrand Type
Micromelia, Flared metaphysis, Advanced tarsal ossification, Preductal coarctation of the aorta, ... OMIM:215045
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hernia, Atrophic scars, Bruising susceptibility ORPHA:300179
Kabuki Syndrome 1
Short 5th finger, Congenital hip dislocation, Anal stenosis, Anoperineal fistula, Prominent finge... OMIM:147920
Holoprosencephaly 2
Bifid uvula, Anterior pituitary agenesis, Proboscis, Diabetes insipidus, Median cleft palate, Mal... OMIM:157170
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Pseudoxanthoma Elasticum, Forme Fruste
Peau d'orange, Abnormal sternum morphology, Mitral valve prolapse OMIM:177850
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Anosmia, Cleft lip, Dental malocclusion, Inguinal hernia, Cryptorchidism, Hypogo... OMIM:603457
Progressive Non-Infectious Anterior Vertebral Fusion
Large hands, Proximal radio-ulnar synostosis, Abdominal situs inversus ORPHA:2062
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Long penis, Cardiomyopathy, Furrowed tongue, Polydactyly, Ventricular septal de... ORPHA:769
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia OMIM:613554
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Wide nasal bridge, Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental... ORPHA:1071
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Hypoplasia of t... ORPHA:989
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase... OMIM:203800
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Long philtrum, Micrognathia, Streak ovary, Cryptorchidism, Aplasia of the nasal bo... OMIM:618820
Au-Kline Syndrome
Bifid uvula, Bifid nasal tip, Gastroesophageal reflux, Aortic root aneurysm, Dental malocclusion,... OMIM:616580
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Shoulder flexion contracture, Retrognathia, Dental crowding, Elbow flexion con... OMIM:620369
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Hypoplasia of the maxilla, Cleft lip, Conical tooth, Bilateral choanal atresia... OMIM:106260
Trichohepatoneurodevelopmental Syndrome
Overlapping toe, Fibular bowing, Ventricular septal defect, Talipes equinovarus, Bilateral coxa v... OMIM:618268
X-Linked Dominant Chondrodysplasia Punctata
Depressed nasal bridge, Hypoplastic cervical vertebrae, Scarring alopecia of scalp, Scaling skin,... ORPHA:35173
Robinow Syndrome, Autosomal Dominant 1
Small hand, Micrognathia, Short lingual frenulum, Cryptorchidism, Short hard palate, High palate,... OMIM:180700
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Ankyloglossia, Micrognathia, Hepatic steatosis, Ventricular septal defect, Hep... OMIM:619525
White-Sutton Syndrome
Duplicated collecting system, Bifid uvula, Broad thumb, Gastroesophageal reflux, Congenital diaph... OMIM:616364
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Abnormal bleeding, Bruising susceptibility, Giant platelets, Leukocyte inclusion bodie... OMIM:155100
Dermotrichic Syndrome
Depressed nasal bridge, Aganglionic megacolon, Anemia, Short nose ORPHA:99688
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Optic nerve hypoplasia, Cardiomyopathy, Microphthalmia ORPHA:370959
Agel Amyloidosis
Xerostomia, Bruising susceptibility, Cardiomyopathy, Dry skin, Dermatological manifestations of s... ORPHA:85448
Loeys-Dietz Syndrome
Arterial dissection, Bifid uvula, Atypical scarring of skin, Abnormal bleeding, Aortic dissection... ORPHA:60030
Costello Syndrome
Pectus carinatum, Tracheomalacia, Hypertrophic cardiomyopathy, Vestibular schwannoma, Mitral valv... OMIM:218040
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Micrognathia, Prominent nasal bridge, Underdeveloped nasal alae, Short nose ORPHA:2083
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Joubert Syndrome 7
Nephronophthisis, Stage 5 chronic kidney disease, Genu valgum, Postaxial polydactyly, Renal cyst,... OMIM:611560
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Nephrolithiasis, Ventricular septal defect ORPHA:369929
Stuve-Wiedemann Syndrome 1
Wide nasal base, Pulmonary hypoplasia, Carious teeth, Smooth tongue, Short tibia, Premature skin ... OMIM:601559
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Bleeding Disorder In Hemophilia A Carriers
Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, Prolonged bleeding ... ORPHA:177926
Autosomal Dominant Robinow Syndrome
Open bite, Micrognathia, Cryptorchidism, Anodontia, Short nose, Wide nose, High, narrow palate, D... ORPHA:3107
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Histiocytoid Cardiomyopathy
Stroke-like episode, Congenital aphakia, Pallor, Cyanosis, Ventricular septal defect, Cardiomegal... ORPHA:137675
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly OMIM:614970
Hepatitis Delta
Abnormal bleeding, Hepatitis, Bruising susceptibility, Cirrhosis, Jaundice, Fulminant hepatitis, ... ORPHA:402823
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxill... OMIM:608156
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent upper respiratory tract infections, Umbilical hernia, Dry skin, Inguinal hernia, Crypto... OMIM:308205
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Micrognathia, Short nose ORPHA:1129
Noonan Syndrome 1
Chylothorax, Clinodactyly, Radial deviation of finger, Lymphedema, Hypertrophic cardiomyopathy, A... OMIM:163950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Genu valgum, Mitral valve prolapse, Decreased skull ossific... ORPHA:666
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Ventricular septal defect, Joint hyperm... OMIM:607721
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Median pseudocleft lip, Micrognathia, Cryptorchidism, Ventricular sept... OMIM:616462
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg... OMIM:266920
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,... OMIM:258860
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Hypospadias, Sandal gap OMIM:615761
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Bifid uvula, Gastroesophageal reflux, Atrioventricular canal defect, Coarctation of aorta, Unilat... OMIM:619480
Cutis Laxa, Autosomal Recessive, Type Ib
Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Congenital diaphragmatic her... OMIM:614437
21Q22.11Q22.12 Microdeletion Syndrome
Acromesomelia, Clinodactyly, Short proximal phalanx of the 5th finger, Camptodactyly, Atrial sept... ORPHA:261323
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup... ORPHA:79404
Osteoglophonic Dysplasia
Hypoplastic scapulae, Cryptorchidism, High palate, Short foot, Short metacarpal, Short nose, Choa... OMIM:166250
Hermansky-Pudlak Syndrome 4
Epistaxis, Abnormal bleeding, Bruising susceptibility, Hypoplasia of the fovea, Absent platelet d... OMIM:614073
Tbck-Related Intellectual Disability Syndrome
Clinodactyly, Broad finger, 11 pairs of ribs, Oligohydramnios, Ventricular septal defect, 2-3 toe... ORPHA:488632
Mowat-Wilson Syndrome
Tooth malposition, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Prominent nas... OMIM:235730
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Ankyloglossia, Cryptorchidism, Mitral valve prolapse, Atrial septal de... OMIM:615873
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Small hand, Intestinal malrotation, Short hallux, High p... ORPHA:93260
Ayme-Gripp Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Craniofacial asymmetry, ... OMIM:601088
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Stroke, Cardiomegaly, Sinus venosus ... ORPHA:1478
Warburg Micro Syndrome 4
Long philtrum, Decreased testicular size, Anteverted nares, Prominent nasal bridge, Narrow mouth,... OMIM:615663
Myhre Syndrome
Precocious puberty, Bifid uvula, Craniofacial hyperostosis, Hypoplasia of the maxilla, Gingival c... ORPHA:2588
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Cervical myelopathy, Pectus carinatum, Hypoplastic acetabulae, Cardiomyopat... OMIM:253200
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Prominent nose, Prominent nasal bridge, Mulberry molar... OMIM:302350
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Aortic root aneurysm, Aspiration pneumonia, Micrognathia, Ventricular septal defect, ... ORPHA:444077
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Anteverted nares,... OMIM:300912
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Unilateral renal agenesis, Gastroesophageal ref... ORPHA:464311
Distal Deletion 9P
Wide nasal bridge, High, narrow palate, Abnormality of the dentition, Short nose, Cleft palate ORPHA:1642
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Unilateral renal agenesis, Pyloric stenosis, Gastroesophageal reflux, Dila... ORPHA:268261
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Downturned corners of mouth, Malar flattening, Thin upper lip vermilion, ... OMIM:618590
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Poor wound healing, Contracture of the proximal interphalangeal joint of the 2nd finger, Bruising... OMIM:130060
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Depressed nasal bridge, Hypoplasia of the odontoid process, Underdeveloped nasal alae, Long philt... OMIM:616007
Curry-Jones Syndrome
Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot ... OMIM:601707
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Cornelia De Lange Syndrome
Small hand, Cutis marmorata, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventr... ORPHA:199
Menkes Disease
Gastrointestinal hemorrhage, Atypical scarring of skin, Chondrocalcinosis, Spontaneous hematomas,... ORPHA:565
Scheie Syndrome
Aortic valve stenosis, Genu valgum, Mitral stenosis OMIM:607016
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Narrow mouth, Inguinal hernia, Cryptorchidism, Microdon... ORPHA:2719
Glanzmann Thrombasthenia 2
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:619267
Nasopalpebral Lipoma-Coloboma Syndrome
Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Bilateral microphthalmos... ORPHA:2399
Aica-Ribosiduria Due To Atic Deficiency
Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level OMIM:608688
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Inguinal hernia, Hypodontia, Flexion contracture, Short nose ORPHA:544503
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction... ORPHA:453504
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Osteopenia, Sandal gap, Decreased fibular diameter, Dysplasia of the femoral head, Gen... OMIM:619127
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction... ORPHA:352665
Monosomy 9P
Choanal atresia, Depressed nasal bridge, Abnormality of the dentition, Long philtrum, Short nose,... ORPHA:261112
Mgat2-Cdg
Osteopenia, Abnormal heart morphology, Ventricular septal defect, Brachydactyly, Pectus excavatum... ORPHA:79329
Cutis Laxa, Autosomal Recessive, Type Iid
Hypertrophic cardiomyopathy, Talipes equinovarus, Pneumothorax, Micropenis, Atrial septal defect,... OMIM:617403
Aymé-Gripp Syndrome
Depressed nasal bridge, Long philtrum, Breast hypoplasia, Narrow mouth, Congenital diaphragmatic ... ORPHA:1272
Cloacal Exstrophy
Hydroureter, Ureterocele, Bladder exstrophy, Intestinal duplication, Abnormal tibia morphology, H... ORPHA:93929
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Absent radius, Anal atresia, Shor... OMIM:181450
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Broad distal phalanx of finger, Nephrocalcinosis, Renal dysplasia, Cleft hard palate... OMIM:300990
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Neurodevelopmental Disorder With Spasticity And Poor Growth
High, narrow palate, Gastroesophageal reflux, Bilateral coxa valga, Vesicoureteral reflux, Knee f... OMIM:618076
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, Recurrent pneumonia, Ventricular septal defect, High palate, Recurrent aspiration pn... OMIM:300472
Rodrigues Blindness
Tooth malposition, Narrow nasal bridge, Ectodermal dysplasia, Microphthalmia OMIM:268320
Acrofrontofacionasal Dysostosis 1
Wide nasal bridge, Short distal phalanx of finger, Cleft upper lip, Wide mouth, Malar flattening,... OMIM:201180
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Prolonged bleedin... OMIM:615888
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Phelan-Mcdermid Syndrome
Gastroesophageal reflux, Vesicoureteral reflux, Ventricular septal defect, 2-3 toe syndactyly, La... OMIM:606232
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Johanson-Blizzard Syndrome
Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Atrial se... OMIM:243800
Restrictive Dermopathy 1
Overtubulated long bones, Ankylosis, Flexion contracture, Increased anterioposterior diameter of ... OMIM:275210
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Tracheomalacia, Single transverse palmar crease, Ventricular septal defect... ORPHA:96121
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, High palate, Hypospadias ORPHA:544254
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Unilateral renal agenesis, Acute leukemia, Renal insufficiency ORPHA:281090
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal arteriolar occlusion, Microphthalmia OMIM:193220
Schneckenbecken Dysplasia
Hypoplastic scapulae, Malar flattening, Short ribs, Limb undergrowth, Short nose, Cleft palate OMIM:269250
Treacher Collins Syndrome 2
Choanal atresia, Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Micrognathia,... OMIM:613717
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Grade III vesicoureteral reflux, Ventricular septal defect, Urethral stricture, Chordee, Atrial s... OMIM:619522
Vascular Ehlers-Danlos Syndrome
Carious teeth, Periodontitis, Narrow mouth, Cryptorchidism, Mitral valve prolapse, Excessive wrin... ORPHA:286
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Horseshoe kidney, Atrial septal defect, Abnormality of the kidney, Ect... ORPHA:3109
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Slender long bone, Ureteropelvic junction obstruction, Mitral valve prola... ORPHA:444072
Braddock Syndrome
Missing ribs, Pectus excavatum, Preaxial hand polydactyly ORPHA:52047
Trichothiodystrophy
High, narrow palate, Carious teeth, Retrognathia, Cardiomyopathy, Umbilical hernia, Bilateral mic... ORPHA:33364
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
X-Linked Intellectual Disability, Armfield Type
Depressed nasal bridge, Small hand, Downturned corners of mouth, Micrognathia, Wide mouth, Inguin... ORPHA:85276
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Oligohydramnios, Polydactyly, Clinodactyly of the... ORPHA:397590
Peho Syndrome
Recurrent respiratory infections, Anteverted nares, Abnormal upper lip morphology, Open mouth, Ma... ORPHA:2836
Goldberg-Shprintzen Syndrome
Small hand, Vesicoureteral reflux, Ventricular septal defect, Aganglionic megacolon, Limb hyperto... OMIM:609460
Difference Of Sex Development-Intellectual Disability Syndrome
Thin vermilion border, Short philtrum, Downturned corners of mouth, Short nose ORPHA:2983
Holoprosencephaly 1
Tessier cleft, Proboscis, Diabetes insipidus, Median cleft palate, Median cleft upper lip, Single... OMIM:236100
1P36 Deletion Syndrome
Abnormality of the spleen, Hepatic steatosis, Myopathy, Abnormal intestine morphology, Abnormalit... ORPHA:1606
Autosomal Recessive Faciodigitogenital Syndrome
Long philtrum, Open bite, Anteverted nares, Prominent nasal bridge, Micrognathia, Deep philtrum, ... ORPHA:1974
Perlman Syndrome
Interrupted aortic arch, Distal ileal atresia, Wide nasal bridge, Depressed nasal bridge, Volvulu... OMIM:267000
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Small hand, Single transverse palmar crease, Ventricular septal defect, Ventricula... OMIM:614947
Atelosteogenesis, Type I
Depressed nasal bridge, Rhizomelia, Short finger, Vertebral hypoplasia, Fibular aplasia, Microgna... OMIM:108720
Developmental And Epileptic Encephalopathy 1
Dysphagia, Microphthalmia OMIM:308350
Genitopatellar Syndrome
Multicystic kidney dysplasia, Patellar aplasia, Hip contracture, Ventricular septal defect, Talip... OMIM:606170
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Absent thumb, Agenesis of permanent teeth, Microphthalmia, Anemia, A... OMIM:617244
Monosomy 22
Contractures of the large joints, Retrognathia, Long philtrum, Hepatosplenomegaly, Open mouth, Ap... ORPHA:96123
Pancreatic And Cerebellar Agenesis
Pectus carinatum, Secundum atrial septal defect, Overlapping fingers, Joint stiffness, Flexion co... OMIM:609069
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short distal phalanx of finger, Abnormality of the dentition, Progeroid facial appearance, Genera... ORPHA:90154
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Mend Syndrome
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Crossed fused renal ec... OMIM:300960
Congenital Tricuspid Stenosis
Tricuspid stenosis ORPHA:95459
Meckel Syndrome, Type 5
Cleft upper lip, Bile duct proliferation, Cleft palate, Microphthalmia OMIM:611561
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Underdeveloped nasal alae, Widely spaced teeth, Bulbous nose, Thin upper lip v... OMIM:615803
Lissencephaly 9 With Complex Brainstem Malformation
Dysphagia, Ventricular septal defect OMIM:618325
Juvenile Polyposis Syndrome
Arteriovenous malformation, Colon cancer, Stomach cancer, Juvenile gastrointestinal polyposis, Sm... ORPHA:2929
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Toe syndactyly, Finger syndactyly, Abnormality of the ureter, Bilateral single transverse palmar ... ORPHA:3253
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... OMIM:619268
Joubert Syndrome 27
Dilatation of the renal pelvis, Polydactyly OMIM:617120
Stickler Syndrome
Open bite, Micrognathia, Mitral valve prolapse, Short hard palate, Short nose, Depressed nasal ri... ORPHA:828
Shprintzen Omphalocele Syndrome
Flared nostrils, Wide nasal bridge, Short columella, Omphalocele, Thin vermilion border, Anal atr... OMIM:182210
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Generalized limb muscle atrophy, Submucous cleft hard palate, Chordee, Atri... OMIM:618891
Holoprosencephaly 3
Depressed nasal bridge, Bifid uvula, Cleft lip, Abnormality of the nose, Proboscis, Short columel... OMIM:142945
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Delayed eruption... OMIM:300952
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Elbow flexion contracture, Vesicoureteral reflux, Hip contracture, ... OMIM:300868
Microphthalmia, Syndromic 6
Bifid uvula, Abnormality of the hypothalamus-pituitary axis, Microglossia, Retrognathia, Anterior... OMIM:607932
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Inflammation of the large intes... ORPHA:110
Phocomelia, Schinzel Type
High, narrow palate, Finger aplasia, Micromelia, Aplasia/Hypoplasia of the sacrum, Foot oligodact... ORPHA:2879
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Depressed nasal bridge, Tented upper lip vermilion, Malar flattening, Carpal bone hypoplasia, Thi... OMIM:616723
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Pectus carinatum, Contractures of the large joints, Single transverse palmar creas... OMIM:617527
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Overlapping toe, Ventricular septal de... OMIM:616682
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Synostosis of the proximal phalanx of the thumb wit... OMIM:300967
Congenital Disorder Of Glycosylation, Type Iia
Abnormal rib cage morphology, Osteopenia, Slender long bone, Ventricular septal defect, Pectus ex... OMIM:212066
Ulbright-Hodes Syndrome
Abnormal penis morphology, Pulmonary hypoplasia, Renal hypoplasia, Abnormal forearm bone morpholo... ORPHA:3404
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Thrombocytopenia, Neutropenia, Macrothrombocytopen... OMIM:603585
Witteveen-Kolk Syndrome
Flared nostrils, Small hand, Hyperplasia of the maxilla, Type II diabetes mellitus, Congenital di... OMIM:613406
Achondrogenesis, Type Ia
Depressed nasal bridge, Hypoplastic nasal bridge, Hypoplastic scapulae, Severe limb shortening, H... OMIM:200600
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Downturned corners of mouth, Short nose, Thick vermilion border ORPHA:1185
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Ventricular septal defect, Short hallux, A... OMIM:616268
Zimmermann-Laband Syndrome 1
Short distal phalanx of finger, Long penis, Aortic root aneurysm, Gastroesophageal reflux, Cardio... OMIM:135500
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Anteverted nares, Micrognathi... OMIM:619005
Unilateral Polymicrogyria
Stroke, Pseudobulbar paralysis, Abnormal heart morphology, Pulmonary arteriovenous malformation ORPHA:268943
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Intestinal malrotation, Genu valgum, Leukocytosis, Hepatic steatosis, Cleft sof... OMIM:619321
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Retinitis Pigmentosa 51
Abnormality of the kidney, Polydactyly OMIM:613464
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular septal defect, Dysphagia, ... ORPHA:261250
Polycythemia Vera
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Bruising susceptibilit... ORPHA:729
Radio-Tartaglia Syndrome
High, narrow palate, Gastroesophageal reflux, Ventricular septal defect, Brachydactyly, High pala... OMIM:619312
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Cryptorchidism, Everted lower ... ORPHA:534
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... ORPHA:2307
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
20P13 Microdeletion Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly ORPHA:313781
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Congenital hip dislocation, Aqueductal stenosis, Atrial septal defect, Long finger... OMIM:619512
Adenylosuccinase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Wide mouth, Short nose OMIM:103050
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Anteverted nares, Prominent nasal bridge, Inguinal hernia, Cryptorchidism, D... OMIM:227330
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Keutel Syndrome
Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis... OMIM:245150
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Tracheomalacia, Abnorm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Tracheomalacia, Abnorm... ORPHA:363958
Opsismodysplasia
Depressed nasal bridge, Splenomegaly, Hypoplastic vertebral bodies, Hepatomegaly, Recurrent respi... ORPHA:2746
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic valve calcification, Hypoplastic left heart, Thoracic aorta calcifi... ORPHA:402075
Laurence-Moon Syndrome
Micropenis, Abnormality of the hand, Polydactyly OMIM:245800
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of the dentition, Skin ulcer, Narrow nasal bridge, Microphthalmia, Recurrent respirat... ORPHA:1806
Pelvis-Shoulder Dysplasia
Microglossia, Bilateral microphthalmos, Camptodactyly of finger, Micrognathia, Mesomelic/rhizomel... ORPHA:2839
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Tricuspid stenosis, Edema, Pulmonic stenosis ORPHA:100078
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Gastroesophageal reflux, Patent foramen ovale ORPHA:542306
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hepatic sinusoidal dilatation, Atelectasis, Retinal arterial tortuosity, Splenic c... OMIM:620371
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Toe syndactyly, Gastroesophageal reflux, Short finger, Dilatation of the ventricular cavity, Sing... ORPHA:459070
Pontocerebellar Hypoplasia, Type 2E
Micrognathia, Facial telangiectasia, Flexion contracture, Short nose, Wide nose OMIM:615851
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Menke-Hennekam Syndrome 1
Everted upper lip vermilion, Micrognathia, Cryptorchidism, High palate, Short nose, Depressed nas... OMIM:618332
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Emphysema, Lymphopenia... OMIM:242700
Lathosterolosis
Intrahepatic cholestasis, Downturned corners of mouth, Long philtrum, Bulbous nose, Anteverted na... ORPHA:46059
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Arteriovenous malformation, Dental crowding, Subcutaneous hemorrhage... ORPHA:394
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Cerebral edema, Left ventricular hypertrophy, Reduced bone mineral density, Atrial septal defect OMIM:620510
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Short nose OMIM:618087
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telan... ORPHA:774
Pseudoxanthoma Elasticum
Optic disc drusen, Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse OMIM:264800
Sandhoff Disease, Infantile Form
Mitral valve prolapse ORPHA:309155
Gaucher Disease Type 1
Gingival bleeding, Splenic infarction, Cholelithiasis, Abnormal bleeding, Bruising susceptibility... ORPHA:77259
Oeis Complex
Absence of the sacrum, Anteriorly placed anus, Duplicated colon, Intestinal malrotation, 11 pairs... OMIM:258040
Omphalocele Syndrome, Shprintzen-Goldberg Type
Gastroesophageal reflux, Downturned corners of mouth, Short columella, Thin upper lip vermilion, ... ORPHA:3164
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Elevated circulating parathyroid hormone level, Short nose, Sma... OMIM:618618
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Depressed nasal bridge, Hypoplasia of the maxilla, Absent nipple... OMIM:305100
Aspartylglucosaminuria
Wide nasal bridge, Abnormality of the dentition, Carious teeth, Vascular skin abnormality, Umbili... ORPHA:93
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, ... OMIM:214500
Phakomatosis Pigmentokeratotica
Hemiatrophy, Unilateral renal hypoplasia, Nephroblastoma, Renal transitional cell carcinoma, Rhab... ORPHA:2874
Traboulsi Syndrome
Bifid uvula, Dental malocclusion, Retrognathia, Short finger, Prominent nose, Prominent nasal bri... OMIM:601552
Chédiak-Higashi Syndrome
Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal... ORPHA:167
Galloway-Mowat Syndrome 1
Joint contracture of the hand, Hypoplasia of the iris, Prominent nose, Micrognathia, Hiatus herni... OMIM:251300
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Erythema, Choanal atresia, Camptodactyly of finger, Abnormal dental enamel morphology, Inguinal h... ORPHA:2273
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... OMIM:598500
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Wide nasal bridge, Bifid uvula, Recurrent pneumonia, Broad nasal tip, Long philtrum, Umbilical he... OMIM:620330
Incontinentia Pigmenti
Erythema, Skin ulcer, Delayed eruption of teeth, Umbilical hernia, Abnormal dental enamel morphol... ORPHA:464
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Abnormal pelvic girdle bone morphology, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Abnormality of the ureter, Genu valgum, Hi... ORPHA:800
Hajdu-Cheney Syndrome
Foot acroosteolysis, Hypospadias, Intestinal malrotation, Genu valgum, Fibular bowing, Ventricula... OMIM:102500
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Cardiomyopathy, Renal dysplasia, Overlapp... ORPHA:480880
Joubert Syndrome 23
Polydactyly OMIM:616490
Lissencephaly 8
Microphthalmia OMIM:617255
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Atrial septal defect, Dysphagia, Short nose, Hypoplasia of the maxilla, Gastr... ORPHA:500150
Oculoectodermal Syndrome
Bladder exstrophy, Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, ... OMIM:600268
Scorpion Envenomation
Acute pancreatitis, Erythema, Pulmonary edema, Stroke, Myocarditis, Purpura ORPHA:466677
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Cryptorchidism, Ad... OMIM:614732
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Macroglossia, Atrial septal defect ORPHA:93947
Incontinentia Pigmenti
Erythema, Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast ... OMIM:308300
Isolated Arrhinia
Tessier cleft, Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the n... ORPHA:1134
Leigh Syndrome
Generalized aminoaciduria, Hepatic failure, Skeletal muscle atrophy, Methylmalonic aciduria, Hype... ORPHA:506
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia ORPHA:2788
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Type I diabetes mellitus, Progeroid facial appearance, Facial wrinkling... OMIM:606721
Roberts Syndrome
Underdeveloped nasal alae, Cleft upper lip, Micrognathia, Patellar aplasia, Knee flexion contract... ORPHA:3103
Sponastrime Dysplasia
Aplasia of the nasal bone, Hypoplasia of the nasal bone, Neutropenia, Short foot, Short nose, Wid... ORPHA:93357
Cockayne Syndrome B
Atypical scarring of skin, Carious teeth, Dental malocclusion, Progeroid facial appearance, Mandi... OMIM:133540
Deafness, X-Linked 7
Wide nasal bridge, Unilateral microphthalmos OMIM:301018
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Short nose, Broad philtrum, Wide mouth, Cleft palate, Wide nose ORPHA:1394
Occipital Horn Syndrome
Cholestasis, Esophagitis, Jaundice, Dysphagia, High, narrow palate, Atypical scarring of skin, Ga... ORPHA:198
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Encephalocele, T... ORPHA:1827
Aicardi Syndrome
Precocious puberty, Small hand, Gastroesophageal reflux, Cleft upper lip, Intestinal polyposis, P... ORPHA:50
Cadds
Micrognathia, Short nose ORPHA:369942
Den Hoed-De Boer-Voisin Syndrome
Small hand, Gastroesophageal reflux, Sandal gap, Recurrent urinary tract infections, Ventricular ... OMIM:619229
Autosomal Recessive Malignant Osteopetrosis
Bruising susceptibility, Delayed eruption of teeth, Premature loss of primary teeth, Abnormal pul... ORPHA:667
Magel2-Related Prader-Willi-Like Syndrome
Small hand, Gastroesophageal reflux, Xerostomia, Recurrent respiratory infections, Atrial septal ... ORPHA:398069
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal dysplasia, Genu varum, Vascular tortuosity, Multiple joint contractures, Short phalan... ORPHA:99646
Microlissencephaly-Micromelia Syndrome
Micromelia, Long philtrum, Short nose, 11 pairs of ribs ORPHA:50810
Neurodegeneration With Brain Iron Accumulation 2A
Micrognathia, Short nose OMIM:256600
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short distal phalanx of finger, Renal hypoplasia, Gastroesophageal reflux, Recurrent urinary trac... OMIM:617157
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Glossoptosis, Underdeveloped nasal alae, Short nose ORPHA:2031
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Short hallux, High palate, Mesomelic arm... OMIM:268305
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Gastroesophageal reflux, Aspiration pneumonia, Abnorm... ORPHA:438213
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Slender finger, Renal hypoplasia, Gastroesophageal reflux, Clinodactyly, Radial deviation of fing... OMIM:309580
Orofaciodigital Syndrome Iii
Short sternum, Postaxial foot polydactyly, Pectus excavatum, Postaxial hand polydactyly OMIM:258850
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Gastroesophageal reflux, Prominent fingertip pads, Ankyloglossia, Unilateral... OMIM:619950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Umbilical hernia, Ventricular septal defect, Joint hypermobility, Pect... ORPHA:2789
Sotos Syndrome
Small cell lung carcinoma, Hip contracture, Ventricular septal defect, Talipes equinovarus, Atria... ORPHA:821
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Hydroureter, Polydactyly, Hydronephrosis, Postaxial hand polydactyly,... OMIM:615989
Opsismodysplasia
Depressed nasal bridge, Rhizomelia, Hypoplasia of the odontoid process, Long philtrum, Anteverted... OMIM:258480
Cousin Syndrome
Mesomelia, Joint contracture of the hand, Microglossia, Hypoplastic scapulae, Rhizomelia, Fibular... OMIM:260660
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Abnormality of the ureter, Epispadias, Aganglionic megacolon, Brachyda... ORPHA:3339
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Right atrial enlargement, Pleural effusion, Mitral valve prolapse OMIM:620233
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Slender finger, Secundum atrial septal defect, Tibial torsion, Bicuspid aortic valve, Talipes equ... OMIM:613355
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hematochezia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, ... OMIM:619575
Deeah Syndrome
Retrognathia, Long philtrum, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:619004
Ramos-Arroyo Syndrome
Xerostomia, Aganglionic megacolon, Atrial septal defect, Abnormal autonomic nervous system physio... ORPHA:1051
Warburg Micro Syndrome 2
Prominent nasal bridge, Cryptorchidism, Microphthalmia, Flexion contracture, Short nose OMIM:614225
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Spontaneous, recurrent epistaxis, Congenital thrombocyt... ORPHA:182050
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Dend Syndrome
Long philtrum, Anteverted nares, Downturned corners of mouth, Short nose ORPHA:79134
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath... ORPHA:79430
Mietens Syndrome
Wide nasal bridge, Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Wide nose ORPHA:2557
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Hypoplasi... OMIM:619172
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Wide nasal bridge, Pulmonary hypoplasia, Cholelithiasis, Retrognathia, Underdeveloped nasal alae,... ORPHA:83617
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Atrial septal defect, Thrombocytopenia ORPHA:457351
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Long philtrum, Narrow mouth, Malar flattening, Thin upper lip vermilion, ... OMIM:601353
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Neurofibroma, Pectus excavatum of inferior sternum, Plexiform neur... OMIM:601321
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Purpura OMIM:235400
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u... ORPHA:2973
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Short femoral neck, Bruising susceptibility ORPHA:157965
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy OMIM:615802
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Cryptorchidism, Microphthalmia ORPHA:363741
Hypermobile Ehlers-Danlos Syndrome
Aortic root aneurysm, Mitral valve prolapse, Rectal prolapse, High, narrow palate, Atypical scarr... ORPHA:285
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mesomelia, Depressed nasal bridge, Abnormality of the dentition, Rhizomelia, Bulbous nose, Anteve... OMIM:271510
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Cirrhosis, Clubbing, Gastrointestinal hemo... OMIM:187300
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Rhabdomyoly... OMIM:610505
Orofaciodigital Syndrome Type 14
Postaxial foot polydactyly, Broad hallux, Hamartoma of tongue, Deviation of the hallux, Ventricul... ORPHA:434179
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism, Microphthalmia OMIM:601794
Orofaciodigital Syndrome Type 3
Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Thoracic... ORPHA:2752
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia, Phocomelia ORPHA:3004
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly OMIM:605231
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Broad hallux, Postaxial polydactyly, Hip dysplasia, Facial hypotonia, ... ORPHA:457284
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse, Joint hypermobility ORPHA:449291
Early Infantile Epileptic Encephalopathy
Ureterocele, Short finger, Broad phalanx of the toes, Ventricular septal defect, Micropenis, Clef... ORPHA:1934
Zika Virus Disease
Subcutaneous hemorrhage, Optic disc hypoplasia, Thrombocytopenia ORPHA:448237
Plaa-Associated Neurodevelopmental Disorder
Long philtrum, Micrognathia, Tented upper lip vermilion, Smooth philtrum, High palate, Short nose ORPHA:521426
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Splenom... OMIM:139090
Attenuated Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Skin ulcer, Bruising susceptibility, Recurrent respiratory infections ORPHA:352723
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Xerostomia, Short thumb, Broad hallux, Preaxial polydactyly, Radi... OMIM:149730
Aicardi Syndrome
Precocious puberty, Recurrent pneumonia, Cleft upper lip, Anteverted nares, Prominence of the pre... OMIM:304050
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Lip pit, Supernumerary nipple, Camptodactyly of finger, Abnormal palate morphology... ORPHA:1236
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Gastroesophageal reflux, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Progress... ORPHA:522077
Microphthalmia, Lenz Type
Abnormality of the dentition, Delayed eruption of teeth, Camptodactyly of finger, Abnormal dental... ORPHA:568
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Narrow mouth, Cryptorchidis... ORPHA:95699
Orofaciodigital Syndrome Type 1
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... ORPHA:2750
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Bruising susceptibility, Umbilical hernia, Atrophic scars, Cleft soft palate, Ing... OMIM:614557
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Barrel-shaped chest, Tibi... OMIM:259770
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Hydronephrosis, Aganglionic ... OMIM:236700
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cel... ORPHA:83471
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Proteus Syndrome
Pulmonary cyst, Carious teeth, Arteriovenous malformation, Venous malformation, Open mouth, Pulmo... ORPHA:744
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, V... OMIM:216340
Skin Creases, Congenital Symmetric Circumferential, 2
Wide nasal bridge, Depressed nasal bridge, Carious teeth, Micrognathia, Narrow mouth, Cryptorchid... OMIM:616734
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Hypoplasia of the fovea, Thrombocytopenia, Absent platelet de... OMIM:614074
Wilson Disease
Bruising susceptibility, Hepatitis, Acute hepatitis, Splenomegaly, Hepatic steatosis, Hepatomegal... ORPHA:905
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hand clenching, Gastroesophageal reflux, Ventricular septal defect, Talipes equinovarus, High pal... OMIM:614653
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Sensory axonal neuropathy, Mitral valve prolapse, Peripheral axonal neuro... OMIM:607459
Blepharophimosis, Ptosis, And Epicanthus Inversus
Wide nasal bridge, Depressed nasal bridge, Microphthalmia, Increased circulating gonadotropin lev... OMIM:110100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Congenital contracture, Cleft upper lip, Micrognathia, Cryptorchidism, Microphthalmia, Buphthalmo... OMIM:236670
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fifth metatarsal, Slender finger, Asymmetry of the thorax, Cone-shaped epiphysis, Short fin... OMIM:619841
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo... OMIM:603671
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Jaberi-Elahi Syndrome
Triangular mouth, Depressed nasal bridge, Short nose OMIM:617988
Adnp Syndrome
Urinary incontinence, Recurrent upper respiratory tract infections, Broad thumb, Gastroesophageal... ORPHA:404448
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Short thumb, Patent foramen ovale, Tapered finger, Chordee, Brachydactyly, Clinodactyly of the 5t... ORPHA:477993
1P21.3 Microdeletion Syndrome
Micrognathia, Broad nasal tip, Wide mouth, Short nose ORPHA:293948
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Adrenal cortical sclerosis, Recurrent pneumonia, Lymphopenia, Autoimmune hemolytic ane... OMIM:102700
White-Kernohan Syndrome
Depressed nasal bridge, Gastroesophageal reflux, Retrognathia, Underdeveloped nasal alae, Anterio... OMIM:619426
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Partial atrioventricular canal defect, Thrombocytopenia OMIM:620423
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Small hand, Broad nasal tip, Long philtrum, Thick lower lip vermilion, Bu... OMIM:309590
Occipital Horn Syndrome
Bruising susceptibility, Long philtrum, Redundant skin, Carotid artery tortuosity, Short humerus,... OMIM:304150
Gaucher Disease, Type Iiic
Aortic valve calcification, Cardiomegaly, Mitral stenosis, Mitral valve calcification OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Abnormally large globe, Microphthalmia OMIM:615249
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ankyloglossia, Hepatic steatosis, Ventricular septal defect, Bicuspid aortic valve, Jaundice, Hig... OMIM:619475
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia OMIM:605735
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Carious teeth, Periodontitis, Prolonged bleeding following p... ORPHA:79259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Congenital contracture, Cleft upper lip, Buphthalmos, Microphthalmia, Macroglossia, Cleft palate OMIM:613150
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Microphthalmia OMIM:617306
Pelvis-Shoulder Dysplasia
Short clavicles, Hypoplastic scapulae, Microphthalmia OMIM:169550
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Abnormal pelvic girdle bone morphology, Hydroureter, Anteriorly placed... OMIM:600057
Telangiectasia, Hereditary Hemorrhagic, Type 2
Gastrointestinal angiodysplasia, Cirrhosis, Clubbing, Polycythemia, Cerebral arteriovenous malfor... OMIM:600376
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Oligohydramnios OMIM:615824
Neuroocular Syndrome 1
Short uvula, Retrognathia, Downturned corners of mouth, Umbilical hernia, Widely spaced teeth, An... OMIM:619539
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Portal hypertension... OMIM:619431
Spondylocarpotarsal Synostosis Syndrome
Broad nasal tip, Hypoplasia of the odontoid process, Failure of eruption of permanent teeth, Ante... OMIM:272460
Retinitis Pigmentosa 74
Optic disc pallor, Polydactyly OMIM:616562
Coffin-Siris Syndrome 12
Slender finger, Broad thumb, Elevated circulating hepatic transaminase concentration, Short thumb... OMIM:619325
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal bleeding, Bruising susceptibility, Pancytopenia, Decreased ... ORPHA:101096
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Chylothorax, Micrognathia, Congenital contracture, Thymus hyperplasia OMIM:619036
Scarf Syndrome
Pectus carinatum, Umbilical hernia, Joint hypermobility, Short sternum, Craniosynostosis ORPHA:3134
Maternal Uniparental Disomy Of Chromosome 2
Clinodactyly of the 5th finger, Oligohydramnios, Contractures of the large joints, Preaxial hand ... ORPHA:96179
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Bruising susceptibility, Dorsocervical fat pad, Primary hyp... OMIM:615830
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Intestinal malrotation, Hydroureter, Fetal megacystis OMIM:249210
Epidermolysis Bullosa Simplex With Pyloric Atresia
Muscular dystrophy, Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, A... ORPHA:158684
Wiedemann-Steiner Syndrome
Wide nasal bridge, Rhizomelia, Gastroesophageal reflux, Long philtrum, Decreased response to grow... ORPHA:319182
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal ridge, Recurrent pneumonia, Depressed nasal bridge, Hypoplasia of the odontoid pr... OMIM:271665
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia OMIM:601709
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Macular telangiectasia, Microphthalmia ORPHA:891
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Tricuspid stenosis ORPHA:100079
Adiposis Dolorosa
Xerostomia, Bruising susceptibility, Dry skin, Hypothyroidism, Telangiectasia of the skin ORPHA:36397
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Wide nasal bridge, Ankle flexion contracture, Microretrognathia, Retrognathia, Bilateral micropht... ORPHA:468631
Duane Retraction Syndrome
Preaxial hand polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Triphalangeal th... ORPHA:233
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Small hand, Microphthalmia, Short foot, Cleft palate ORPHA:2714
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Microretrognathia, Bruising susceptibility, Tooth agenesis, Prolonged bleeding time, ... OMIM:616229
Oculopalatocerebral Syndrome
Cleft palate, Microphthalmia OMIM:257910
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Finger clinodact... ORPHA:79474
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Re... ORPHA:79403
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Hydroureter, Ureterocele, Renal agenesis, Xerostomia, Vesicoureteral reflux, Hydr... OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Toe syndactyly, Hydroureter, Ureterocele, Ectrodactyly, Renal agenesis, Megacystis... OMIM:604292
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Corneal scarring, Microphthalmia OMIM:212550
Joubert Syndrome 2
Depressed nasal bridge, High palate, Microphthalmia OMIM:608091
Scarf Syndrome
Lambdoidal craniosynostosis, Pectus carinatum, Coronal craniosynostosis, Umbilical hernia, Barrel... OMIM:312830
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Bruising susceptibility, Pigmented micronodular adrenocorti... OMIM:610475
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Convex nasal ridge, High palate, Wide mouth, Short nose OMIM:300661
Choanal Atresia
Craniosynostosis, Tracheomalacia, Polydactyly ORPHA:137914
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Bruising susceptibility, Neuroendocrine ... ORPHA:189427
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Tongue telangiectasia, Dilatation of mes... OMIM:610655
Microphthalmia/Coloboma 9
Long philtrum, Microphthalmia OMIM:615145
Cog8-Cdg
Prolonged prothrombin time, Protein-losing enteropathy, Spontaneous hematomas ORPHA:95428
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bilateral single transverse palmar creases, Abnormal metacarpal morphology, Large hands, Aplasia/... ORPHA:2636
Congenital Disorder Of Glycosylation, Type Iim
Gastroesophageal reflux, Ureteropelvic junction obstruction, Atrial septal defect, High palate, V... OMIM:300896
Fraser Syndrome 3
Hypoplasia of the bladder, Short toe, Bilateral renal agenesis, Abnormal lung lobation, Ureteral ... OMIM:617667
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Clinodactyly of the 5th finger, Mitral valve prolapse ORPHA:369950
Momo Syndrome
Short sternum, Large hands OMIM:157980
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Renal duplication, Ureteral duplication, Anal atresia, Rectovaginal fistu... OMIM:270420
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Bruising susceptibility, Striae distensae, Decreased circul... OMIM:219080
Monosomy 13Q14
Wide nasal bridge, Micrognathia, Prominent nasal bridge, Aplasia/Hypoplasia of the thumb, Abnorma... ORPHA:1587
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Cutaneous photosensitivity, Progeroid facial appearance, Microphthalmia OMIM:610651
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Hypothyroidism, Congenital, Nongoitrous, 5
Patent foramen ovale OMIM:225250
Brittle Cornea Syndrome 2
Bruising susceptibility, Inguinal hernia, Umbilical hernia OMIM:614170
Acromesomelic Dysplasia 1
Short toe, Short metacarpal, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose OMIM:602875
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Abnormal digit morphology, Polydactyly, Osteoporosis of vertebrae, Holoprosencephaly,... ORPHA:95494
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Broad distal phalanx of finger, Hydroureter, Bilateral renal agenesis,... OMIM:619194
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Dental malocclusion, Increased hepatic echogenicity, Short finger, Microphthalmia, Sh... OMIM:608940
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel... ORPHA:261265
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Urina... ORPHA:512
Cholestasis, Progressive Familial Intrahepatic, 6
Bleeding requiring red cell transfusion, Intrahepatic cholestasis, Periportal fibrosis, Bruising ... OMIM:619484
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Dermal translucency, Poor wound healing, Bruising susceptibility OMIM:619120
Intellectual Developmental Disorder, Autosomal Dominant 73
Toe clinodactyly, Hydroureter, Ankyloglossia, Cleft soft palate, Limited elbow extension, Bilater... OMIM:620450
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Depressed nasal bridge, Gastrointestinal hemorrhage, Recurrent pneumonia, Poor wound healing, Bru... OMIM:225400
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Xeroderma Pigmentosum, Complementation Group D
Telangiectasia, Cutaneous photosensitivity, Microphthalmia OMIM:278730
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Transient ischemic attack, Duplication of thumb phalanx, Hydronephrosis, Abnormality... ORPHA:2995
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Pallor, Malar flattening, Hypoplasia of the retina, Everted lower lip vermilion, Mi... OMIM:253280
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Molybdenum Cofactor Deficiency, Type B
Long philtrum, Short nose, Thick vermilion border OMIM:252160
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Small hand, Secundum atrial septal defect, Finger clinodactyly, Sagittal craniosynostosis, Patent... OMIM:620455
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retrognathia, Microphthalmia OMIM:614643
Molybdenum Cofactor Deficiency, Type A
Long philtrum, Short nose, Thick vermilion border OMIM:252150
Homozygous Familial Hypercholesterolemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Abnormal internal carot... ORPHA:391665
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility OMIM:262850
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly ORPHA:1297
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Oculoauricular Syndrome
Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia, Short mandibular rami OMIM:612109
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Norrie Disease
Hypoplasia of the iris, Narrow nasal bridge, Malar flattening, Cryptorchidism, Venous insufficien... ORPHA:649
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos ORPHA:91495
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Decreased liver function, Ureterocele, Single transverse palmar crease OMIM:614863
Sacral Defect With Anterior Meningocele
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes equinovarus, Mening... OMIM:600145
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Short metacarpal, Microphthalmia ORPHA:85167
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Hyphema, Microphthalmia OMIM:221900
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Bilateral microphthalmos, Decreased testicular size, Persistence of primary teeth,... ORPHA:93325
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Culler-Jones Syndrome
Postaxial polydactyly, Micropenis, Cleft palate OMIM:615849
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Thrombocytopenia 2
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... OMIM:188000
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Hypoplasia of the iris, Retinal arteriolar tortuosity, Cerebral... OMIM:175780
Acute Liver Failure
Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Hepatitis, Hepatocellula... ORPHA:90062
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Atrophic scars, Fragile skin, Bruising susceptibility OMIM:617821
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Anemia, Microphthalmia OMIM:127000
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Bruising susceptibility, Premature graying of hair OMIM:112250
Hereditary Sensory And Autonomic Neuropathy Type 4
Atypical scarring of skin, Bruising susceptibility, Fasciitis, Dry skin, Corneal scarring, Alveol... ORPHA:642
Chand Syndrome
Short fifth metatarsal, Hydroureter, Atelectasis, Bifid tongue, Cleft palate ORPHA:1401
Linear Nevus Sebaceus Syndrome
Adenoma sebaceum, Microphthalmia ORPHA:2612
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Keloids, Camptodactyly of finger, Corneal scarring, Cryptorchidism... OMIM:309000
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
High, narrow palate, Ureteral duplication, Duplication of renal pelvis 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.

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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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