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Gene: Wdpcp MGI:2144467

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

WD repeat containing planar cell polarity effector

Synonyms:

AV249152, homoloc-13

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 Wdpcp mutations

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

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

Human diseases associated with Wdpcp (4 diseases)
Human diseases predicted to be associated with Wdpcp (924 diseases)

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

Disease	Matching phenotypes	Source
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:110
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, 2-3 finger syndactyly, Subvalvular...	ORPHA:1338
Bardet-Biedl Syndrome 15		OMIM:615992

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

Disease	Matching phenotypes	Source
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnorma...	ORPHA:294975
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septal defect, Inte...	ORPHA:401935
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ...	ORPHA:210122
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef...	OMIM:613885
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Fac...	OMIM:239800
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Atrial septal defe...	ORPHA:2538
Czeizel-Losonci Syndrome	Single transverse palmar crease, High palate, Spina bifida occulta, Prominent antitragus, Low-set...	ORPHA:2437
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Hydranencephaly, Truncus arte...	OMIM:601355
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Renal agenesis, Truncus arteriosus, Ventricular septal ...	OMIM:615583
Fryns Microphthalmia Syndrome	Anophthalmia, Abnormality of the ear, Facial cleft, Bilateral cleft lip and palate, Neural tube d...	OMIM:600776
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Robinow Syndrome	Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Webbed penis, Mi...	ORPHA:97360
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Finger clinodactyly, High palate, Endocardial fibroelastosis, At...	ORPHA:99776
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly,...	ORPHA:66625
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Cleft palate, Neonatal death, Microphthalmia	OMIM:615524
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Ectopic kidney, Abnormality of the urethra, Anorect...	ORPHA:887
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ...	OMIM:601357
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydr...	OMIM:314390
Chime Syndrome	Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Abnormality of the kidney, A...	ORPHA:3474
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec...	OMIM:265380
Bardet-Biedl Syndrome 10	Renal insufficiency, Polydactyly, Renal cyst	OMIM:615987
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Esophageal atresia, Cr...	ORPHA:77298
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia...	OMIM:613390
Trisomy 13	Anophthalmia, High, narrow palate, Atrial septal defect, Bilateral single transverse palmar creas...	ORPHA:3378
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Ectopic kidney, Hydrocephalus, Tracheoesophageal fistula, Orofacial cl...	ORPHA:268249
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Spina bifida, Non-midline cleft lip, Aplasia/Hyp...	ORPHA:1104
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, High palate, Gastroesophageal reflux, Atrial septal ...	OMIM:609029
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Renal agenesis, Ventricular septal defect, Renal hypo...	ORPHA:2516
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Tru...	OMIM:616589
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,...	ORPHA:261272
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea...	ORPHA:2091
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly	OMIM:236110
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft	OMIM:611638
Schisis Association	Encephalocele, Renal agenesis, Micromelia, Spina bifida, Anencephaly, Tracheoesophageal fistula, ...	ORPHA:63862
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Posteriorly rotated ears, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upp...	OMIM:607597
Anencephaly 2	Anophthalmia, Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Fanconi Anemia, Complementation Group B	Renal agenesis, Ventricular septal defect, Optic disc hypoplasia, Absent thumb, Esophageal atresi...	OMIM:300514
Acrocardiofacial Syndrome	Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hypospadias, Cleft upper lip, Crypt...	ORPHA:2008
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Hydrocephalus, Anorectal anomaly, Abnormality of the ureter, Tracheoeso...	ORPHA:1834
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia...	OMIM:206920
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Polydactyly, Bra...	OMIM:615982
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Acces Syndrome	Hip dislocation, Tracheoesophageal fistula, Horseshoe kidney, Protruding ear, Hip dysplasia, Spli...	OMIM:619959
Distal Deletion 19P	Long toe, Low-set, posteriorly rotated ears, Ventricular septal defect, Arachnodactyly, Sensorine...	ORPHA:96129
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, High palate, Gastroesophageal reflux, Atrial septal ...	ORPHA:96170
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Renal cyst, ...	OMIM:611561
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Fanconi Anemia	Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, Atri...	ORPHA:84
Trisomy 1Q	Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Ventricula...	ORPHA:261344
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Facial cleft...	ORPHA:952
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolo...	ORPHA:59315
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Renal cyst, Cleft palate, Right aortic a...	OMIM:231060
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, S...	OMIM:301030
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft upper lip, Cleft palate, Deep palmar crease, Microphthalmia	OMIM:600251
Delpire-Mcneill Syndrome	Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Bilateral sensorineural he...	OMIM:619083
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Truncus arteriosus, Ventricular septal defect, Absent thumb, C...	OMIM:617516
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali...	ORPHA:1794
Acrofacial Dysostosis, Catania Type	Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Hypospadias, Abnormality of ...	ORPHA:1786
Congenital Contractural Arachnodactyly	Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Tracheoesophageal fistula, Mitra...	ORPHA:115
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Townes-Brocks Syndrome 1	Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral...	OMIM:107480
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate	OMIM:172880
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Aplasia of the 1st metacarpal, Micropenis, Pelvic kidney, Renal duplication, Shor...	OMIM:227646
Chromosome 22Q11.2 Deletion Syndrome, Distal	Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate	OMIM:611867
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly	OMIM:615991
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Muscular ventricular septal defect...	OMIM:619227
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate, Cleft upper lip	ORPHA:3316
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Ren...	OMIM:615993
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos...	OMIM:614815
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Meckel Syndrome, Type 2	Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Renal...	OMIM:603194
3Mc Syndrome 3	Abnormal pinna morphology, Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Facial cleft, C...	OMIM:248340
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cleft palate,...	OMIM:181180
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Posteriorly rotated ears, Macrotia, Trach...	ORPHA:1780
Bardet-Biedl Syndrome 11	Polydactyly, Abnormality of the kidney	OMIM:615988
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho...	ORPHA:971
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio...	ORPHA:1923
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Ventricular septal defect, Pulmonary artery atresia, Cryptorchid...	OMIM:601186
Opitz Gbbb Syndrome	High palate, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Hypospadias, Clef...	ORPHA:2745
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Protruding ear...	ORPHA:1166
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage of external ear, Subm...	ORPHA:3426
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Atrial septal defect, Homocystinuria, Dextrocardia, Cystathioninuria, P...	OMIM:277380
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Cleft palate, Gr...	OMIM:164180
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ...	ORPHA:261330
Treacher-Collins Syndrome	Hypoplasia of penis, Glossoptosis, High palate, Conductive hearing impairment, Encephalocele, Bra...	ORPHA:861
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist...	ORPHA:1647
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cutaneous finger syndactyly, Cond...	OMIM:219000
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Abnormal bronchus morphology, Abnormal stom...	ORPHA:141127
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno...	OMIM:617478
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachu...	OMIM:192350
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Hydrolethalus	Tracheal atresia, Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Cryptorchidism, Po...	ORPHA:2189
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Situs inversus totalis, Femoral bowing, Hypertrophic cardiomyopathy, Aortic valve ...	OMIM:615415
Frontonasal Dysplasia 3	Posteriorly rotated ears, Facial cleft, Cleft palate, Low-set ears, Microphthalmia	OMIM:613456
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Charge Syndrome	Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hypoplasia of the semicircular cana...	ORPHA:138
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Gastroesophageal reflux, Micropenis, Cryptorchid...	OMIM:134780
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Abnormal optic disc morphology, Short palm, Clinodactyly of the 5th finger...	ORPHA:508498
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Hi...	ORPHA:2879
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Abnormal pinna morphology, Facial palsy, Tracheoesophageal fistula, Protrudi...	ORPHA:3068
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Microtia, third degree, Spina bifida, Renal hypoplasia/aplasia, Aqu...	ORPHA:3412
Esophageal Atresia	Gastrointestinal dysmotility, Anorectal anomaly, Clinodactyly, Abnormality of the ear, Gastroesop...	ORPHA:1199
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ...	ORPHA:1106
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly...	OMIM:614091
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hand monodactyly, H...	OMIM:214800
Pseudotrisomy 13 Syndrome	Holoprosencephaly, Atrial septal defect, Micropenis, Encephalocele, Cleft upper lip, Cryptorchidi...	OMIM:264480
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H...	OMIM:611134
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Hereditary Mucoepithelial Dysplasia	Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrowth, Abnormality of the bladder, He...	ORPHA:1839
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula...	ORPHA:958
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio...	OMIM:617926
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly...	OMIM:615996
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Uni...	OMIM:618142
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Facial cleft, Cleft palate, Hand polydactyly, Talipes...	OMIM:217100
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Hypoplastic iliac wing, Micropenis, Short phalanx of fi...	OMIM:263650
Prune Belly Syndrome	Congenital hip dislocation, Atrial septal defect, Vesicoureteral reflux, Multicystic kidney dyspl...	ORPHA:2970
Mosaic Trisomy 1	Single transverse palmar crease, Orofacial cleft, Renal cyst, Finger clinodactyly, Pulmonary arte...	ORPHA:1692
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Hypospadias, Abnormal pinna morphology, Pos...	OMIM:614175
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Hydrocephalus, Trache...	OMIM:614083
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Downturned corners of mouth, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly...	OMIM:220500
Mckusick-Kaufman Syndrome	Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ...	ORPHA:2473
22Q11.2 Deletion Syndrome	Anorectal anomaly, Abnormal aortic arch morphology, Short philtrum, Gastroesophageal reflux, Vesi...	ORPHA:567
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Infantile Myofibromatosis	Intestinal obstruction, Abnormality of the kidney, Gingival fibromatosis, Tracheoesophageal fistu...	ORPHA:2591
Laryngotracheoesophageal Cleft Type 4	Tracheal stenosis, Abnormal cardiac septum morphology, Tracheoesophageal fistula, Intestinal atresia	ORPHA:93941
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Posteriorly rotated ears, Abnormal cortical gyration, Cryptorc...	ORPHA:899
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular se...	OMIM:619980
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno...	ORPHA:2973
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Penile Agenesis	Urethral atresia, male, Hydroureter, Ventricular septal defect, Posteriorly rotated ears, Rectal ...	ORPHA:49
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H...	OMIM:613091
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Dilation of Virchow-Robin spaces, Periventricular nodular heterotopia,...	OMIM:603671
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Pancreatic ...	ORPHA:1318
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le...	OMIM:249710
8P23.1 Duplication Syndrome	Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr...	ORPHA:251076
Feingold Syndrome 1	High palate, Short thumb, Short toe, Esophageal atresia, Patent ductus arteriosus, 2-3 toe syndac...	OMIM:164280
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Epiphyseal stippling, Renal cyst	OMIM:614870
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilatera...	ORPHA:508488
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Hydrocephalus, Large earlobe, Polydactyly, Microphthalmia,...	OMIM:602501
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Cryptorch...	ORPHA:3157
Maternal Hyperthermia-Induced Birth Defects	Hypoplasia of penis, Cleft palate, Clinodactyly of the 5th finger, Aplasia/Hypoplasia affecting t...	ORPHA:2216
Cat Eye Syndrome	Atrial septal defect, Vesicoureteral reflux, Patent ductus arteriosus, Total anomalous pulmonary ...	OMIM:115470
Branchiootorenal Syndrome 1	Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Vesicoure...	OMIM:113650
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly	OMIM:615984
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Anteriorly placed anus, Holoprosencephaly, Micropenis, Distal shorten...	OMIM:146510
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Frontofacionasal Dysplasia	Encephalocele, Non-midline cleft lip, Facial cleft, Cleft palate, Microphthalmia	ORPHA:1791
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Radioulnar synostosis,...	ORPHA:3270
Phosphoribosylaminoimidazole Carboxylase Deficiency	Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias, Tracheoesophageal fistula, Tal...	OMIM:619859
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, P...	OMIM:614424
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Death in...	OMIM:184260
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Renal hypoplasia/aplasia, Long penis, Abnormal fibula morp...	ORPHA:1988
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Atrial septal defect, Sandal gap, High, narrow palate, Patent ductus ar...	OMIM:612863
Chromosome 18Q Deletion Syndrome	Proximal placement of thumb, Downturned corners of mouth, Short philtrum, Atrial septal defect, C...	OMIM:601808
Polysyndactyly With Cardiac Malformation	Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Stillbirth, ...	OMIM:263630
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Protruding ear, Downturned corners of mouth, High palate, Atrial...	OMIM:618950
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia	OMIM:300484
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgene...	ORPHA:3033
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventr...	OMIM:600001
Orofaciodigital Syndrome Xi	Cleft palate, Gastroesophageal reflux, Postaxial polydactyly	OMIM:612913
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Focal polymicrogyria,...	OMIM:619103
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Sirenomelia	Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasi...	ORPHA:3169
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa...	ORPHA:139471
Meckel Syndrome, Type 3	Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyl...	OMIM:607361
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Atrial septal defect, Promi...	OMIM:618494
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypo...	OMIM:236500
Renal Agenesis, Bilateral	Renal agenesis, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abno...	ORPHA:1848
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation	ORPHA:3032
Meckel Syndrome	Ureteral duplication, Anophthalmia, Urethral atresia, Encephalocele, Low-set, posteriorly rotated...	ORPHA:564
Trisomy 17P	Hypoplasia of penis, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Tapered finger...	ORPHA:261290
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, A...	OMIM:201000
Joubert Syndrome 20	4-5 toe syndactyly, Renal cyst, Postaxial polydactyly	OMIM:614970
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Posteriorly rotated ea...	OMIM:179613
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle,...	OMIM:220210
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Deep philtrum, Gastroesophageal reflux, Holoprosencephaly, Enc...	ORPHA:2162
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate...	OMIM:258860
3C Syndrome	Hypoplasia of penis, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, G...	ORPHA:7
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Ectopic kidney, Neonatal death, Microphthalmia, Cystic renal dysplasia	OMIM:613730
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Abnormali...	ORPHA:2549
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial sep...	OMIM:300166
Fryns Syndrome	Tented upper lip vermilion, Abnormal aortic arch morphology, High palate, Gastroesophageal reflux...	ORPHA:2059
Congenital Tracheomalacia	Ventricular septal defect, Bronchomalacia, Tracheomalacia, Cardiomegaly, Anomalous tracheal carti...	ORPHA:95430
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Rh...	OMIM:616300
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Accessory oral frenu...	OMIM:277170
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Cleft palate, Split foot	OMIM:183700
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, High, narrow palate, Deep philtrum, Downturned corners of mouth, Sho...	ORPHA:435638
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Conductive hearing impairment, Facial...	ORPHA:306542
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower lip vermilio...	OMIM:249670
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure...	OMIM:607323
Joubert Syndrome 16	Polydactyly, Renal cyst, Nephronophthisis	OMIM:614465
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a...	OMIM:306955
Orofaciodigital Syndrome V	Lobulated tongue, High palate, Bifid uvula, Hamartoma of tongue, Optic disc coloboma, Postaxial f...	OMIM:174300
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Dextrocardi...	OMIM:615994
Martinez-Frias Syndrome	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi...	OMIM:601346
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Micro...	ORPHA:2470
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon...	ORPHA:140976
Temple-Baraitser Syndrome	Broad hallux, Proximal placement of thumb, Adducted thumb, Downturned corners of mouth, Wide mout...	OMIM:611816
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Shor...	ORPHA:411986
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Conductive hearing i...	ORPHA:921
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Minimal change glomerulonephritis, Clef...	OMIM:616730
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Dental crowding, Abnormal heart valve morphology, Abnormality of the dentition, Small hand, Mitra...	ORPHA:2868
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th...	ORPHA:2631
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Lip pit, Tapered finger, Facial cleft, Large earlobe, Hypodontia, Hypopl...	ORPHA:1236
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ...	ORPHA:2712
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Diaphanospondylodysostosis	Narrow pelvis bone, Multiple renal cysts, Cleft palate	ORPHA:66637
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac...	OMIM:619148
Monosomy 18Q	Abnormal palmar dermatoglyphics, Bilateral cryptorchidism, Secundum atrial septal defect, Downtur...	ORPHA:1600
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia...	ORPHA:107
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Gastroesophageal reflux, Finger syndacty...	ORPHA:2092
Kapur-Toriello Syndrome	Single transverse palmar crease, Conductive hearing impairment, Atrial septal defect, Micropenis,...	OMIM:244300
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Malabsorption, Intestinal perforation,...	ORPHA:537
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Non-midlin...	ORPHA:2075
Tarp Syndrome	Single transverse palmar crease, Glossoptosis, High palate, Atrial septal defect, Deep palmar cre...	OMIM:311900
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Single transverse palmar crease, Protruding ear, Widely spaced teeth, High...	OMIM:612474
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, High, n...	OMIM:122470
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Cleft palate, Microphthalmia, Micropenis	OMIM:610125
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dil...	ORPHA:314588
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to...	OMIM:311200
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh...	ORPHA:1507
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, E...	ORPHA:2869
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl...	ORPHA:404440
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Abnormal tongue morphology, Gastrointestinal dysmotility, Abnormal heart morpholo...	ORPHA:531151
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metata...	OMIM:305600
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Cryptorchidism,...	OMIM:613792
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Optic disc pallor, Unilateral renal agenesis, Postaxial h...	OMIM:216360
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Patent ductus arterios...	ORPHA:65759
Nephronophthisis 15	Polydactyly, Nephronophthisis	OMIM:614845
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Dyskeratosis Congenita	Esophageal stenosis, Hearing impairment, Abnormality of the dentition, Carious teeth, Malabsorpti...	ORPHA:1775
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Posteriorly rotated ears, Tapered finger, Bilateral cleft lip and p...	OMIM:618829
Split-Hand/Foot Malformation 3	Split hand, Renal hypoplasia, Cleft palate, High palate, Narrow mouth, Camptodactyly	OMIM:246560
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Cleft upper lip, Urethrovaginal fistula, Preaxial hand polydacty...	ORPHA:93271
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ureteral duplication, Ventricular septal defect, Renal hypopla...	ORPHA:1926
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Hematemesi...	OMIM:263200
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig...	OMIM:117650
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly, Hypospadias	ORPHA:141333
Kleefstra Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co...	ORPHA:261494
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Cleft upper lip, Cleft palate, Bifid uvula, Dysplastic pulmonary valve, Hearing impairment	OMIM:300958
Orofaciodigital Syndrome Type 5	Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac...	ORPHA:2919
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f...	OMIM:601349
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,...	ORPHA:2756
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hypertrophic cardiomyopathy, Tubular luminal dilatation, Renal interstitial fibrosis,...	OMIM:619902
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Postaxial hand polydactyly, Renal agenesis, Aganglionic megacolon, Foot polydactyly	ORPHA:2155
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Holoprosencephaly 9	Anophthalmia, Abnormal cortical gyration, Optic nerve hypoplasia, Cleft upper lip, Cryptorchidism...	OMIM:610829
Galloway-Mowat Syndrome 7	Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Single transverse palmar crease, Prot...	OMIM:618348
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer	OMIM:135150
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis of carpal bone...	ORPHA:90652
Joubert Syndrome 7	Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,...	OMIM:611560
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Osteopathia striata, High palate, Gastroesophageal reflux, Clinodactyly of the 5...	OMIM:300373
Trisomy X	Clinodactyly of the 5th finger, Hip dysplasia, Multicystic kidney dysplasia, Renal hypoplasia/apl...	ORPHA:3375
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Renal cyst, Short philtrum, Microphallus, Vesicoureteral reflux, Cl...	OMIM:618454
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Recurrent urinary tract infections, Cleft upper lip, Vesi...	OMIM:244600
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, Postaxial polydact...	OMIM:605627
Solitary Median Maxillary Central Incisor	Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median m...	OMIM:147250
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Atrial septal defect...	OMIM:617063
Bardet-Biedl Syndrome 6	Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly	OMIM:605231
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Dental crowding, Orofacial cleft, Urethral atresia, High palat...	ORPHA:2052
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtr...	OMIM:615398
Bresek Syndrome	Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydact...	ORPHA:85284
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Congenital Disorder Of Glycosylation, Type Iil	Ventricular septal defect, Abnormal cortical gyration, Postaxial polydactyly, Unilateral renal ag...	OMIM:614576
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Cryptorchidism, Pate...	ORPHA:3304
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Patent foramen ovale, Hamart...	OMIM:269860
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia	ORPHA:142
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ...	ORPHA:3098
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Multiple renal cysts, Vascular dilatation	ORPHA:2924
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Abnormality of the philtrum, Bilateral single transverse palma...	ORPHA:1770
Gillespie Syndrome	Hypoplasia of the iris, Truncus arteriosus, Aniridia	OMIM:206700
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A...	ORPHA:73246
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Gray matter...	OMIM:219730
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
C Syndrome	Micromelia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, Accessory oral f...	OMIM:211750
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Sandal gap, Dental crowding, Posteriorly rotated ears, Conductive heari...	OMIM:617877
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney...	OMIM:173900
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Ectopic kidney, Anotia, Vesicoureteral reflux, Conductive ...	OMIM:164210
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Spina bifida, Tracheoma...	ORPHA:1393
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly, Hip d...	OMIM:241800
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Hearing impairment, Carious teeth, Cryptorchidism, Deep philtr...	ORPHA:2701
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ears, Cleft lip, Patent duc...	OMIM:619343
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Posteriorly rotated ears, Single transverse ...	OMIM:247200
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, Cupped ear, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminenc...	OMIM:618914
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place...	OMIM:229850
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Patent ductus arteriosus, ...	OMIM:619149
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Renal agenes...	OMIM:212780
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Perimembrano...	OMIM:611376
Trisomy 20P	Protruding ear, Downturned corners of mouth, Short philtrum, Microdontia, Low-set, posteriorly ro...	ORPHA:261318
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Pulmonary artery atresia, Vesicoureteral reflux, Micropenis, Hypospadias, Cryptorchidism, Postaxi...	OMIM:301056
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brachydactyly	OMIM:613819
Meckel Syndrome, Type 6	Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Renal cyst, Postaxial foot polydactyly...	OMIM:612284
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu...	OMIM:616546
Orofaciodigital Syndrome Type 6	Bilateral cryptorchidism, Preaxial polydactyly, Finger clinodactyly, Lobulated tongue, High palat...	ORPHA:2754
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bifid uvula, Cleft palate	OMIM:258320
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Abnormal ao...	ORPHA:1596
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,...	ORPHA:1001
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Supernumerary Nostril	Facial cleft	ORPHA:141096
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Complete atrioventricula...	OMIM:619142
Triploidy	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestina...	ORPHA:3376
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo...	OMIM:615986
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Cleft palate, Abnormal cranial...	ORPHA:2345
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Posteriorly rotated ears, H...	ORPHA:264200
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope...	OMIM:200990
Thrombocytopenia-Absent Radius Syndrome	Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set,...	ORPHA:3320
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T...	ORPHA:1307
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Abnormal pinna morphology, Postaxial polydactyly, Hamartoma of tongue, Esophageal di...	OMIM:617925
Marden-Walker Syndrome	Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Arachnodactyly,...	ORPHA:2461
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Conductive hearing impairment, Sens...	ORPHA:261197
Hydrolethalus Syndrome 1	Median cleft lip, Hypospadias, Abnormal cortical gyration, Ventricular septal defect, Abnormal pi...	OMIM:236680
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of the dentition, Upper limb undergrowth, Gingival overgro...	OMIM:169400
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Hypospadias, Downtu...	OMIM:615761
Chronic Granulomatous Disease	Malabsorption, Pyloric stenosis, Tracheoesophageal fistula, Gingivitis, Otitis media	ORPHA:379
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate, Gastroesophageal reflux, Atri...	OMIM:619488
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger	ORPHA:231140
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Atelosteogenesis, Type Ii	Death in infancy, Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater scia...	OMIM:256050
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hearing abnormality, Meningocele...	ORPHA:2031
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, Bicuspid aortic valve, High, narr...	OMIM:309800
Unilateral Ocular Duplication	Encephalocele, Midline facial cleft, Median cleft lip, Cleft palate	ORPHA:3374
Tarp Syndrome	Single transverse palmar crease, Glossoptosis, Atrial septal defect, Small earlobe, Low-set, post...	ORPHA:2886
Meckel Syndrome, Type 1	Occipital encephalocele, Lobulated tongue, Syndactyly, Cleft upper lip, Cryptorchidism, Patent du...	OMIM:249000
Burn-Mckeown Syndrome	Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Conductive hearing impairm...	OMIM:608572
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Ventricular septal defect, Optic nerve hypoplasia...	OMIM:206900
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Branchial Arch Syndrome, X-Linked	High, narrow palate, Cryptorchidism, Protruding ear, High palate, Pulmonic stenosis, Low-set ears...	OMIM:301950
Hajdu-Cheney Syndrome	Renal cyst, High palate, Conductive hearing impairment, Premature loss of teeth, Dislocated radia...	OMIM:102500
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Tetraploidy	Renal hypoplasia/aplasia, Radial club hand, Cleft palate, Short philtrum, Aplasia/Hypoplasia affe...	ORPHA:3305
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Anteverted ears, Wide mouth, Thin...	ORPHA:544254
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Posteriorly rotated ears, Abnormal cortical gyration, Postaxial polydactyly, Tap...	OMIM:300968
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo...	OMIM:610759
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Fai...	ORPHA:2250
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Hypospadias, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 fin...	OMIM:615877
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ...	OMIM:147891
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Bilateral renal hypoplasia, Prea...	OMIM:243605
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Malabsorption, External ear...	ORPHA:912
Holoprosencephaly 1	Median cleft lip and palate, Alobar holoprosencephaly, Facial cleft, Microphthalmia, Micropenis, ...	OMIM:236100
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, High palate, Widely spaced teeth, Atrial septal defect, V...	OMIM:610443
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Posteriorly rotated ears, Cryptorchidi...	OMIM:257300
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Abnormality of the urinary system, Postaxial polydactyly	OMIM:213010
Digeorge Syndrome	High, narrow palate, High palate, Short philtrum, Gastroesophageal reflux, Bifid uvula, Patent du...	OMIM:188400
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi...	ORPHA:2476
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Sensorineural hearing impairment, Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:264140
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, H...	OMIM:612651
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil...	OMIM:614922
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Camptodactyly of finger, High, narrow palate, Cryptorchidism, Abnormality of the ea...	ORPHA:1101
Down Syndrome	Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov...	OMIM:190685
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Posteriorly rotated ears, Metaphyseal widening, Abnormal heart morph...	OMIM:263210
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Hip dislocation, Wide mouth, Abnormal cardiac septum morphology, Polycystic...	OMIM:608776
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia...	OMIM:263520
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, High palate, Antenatal intracerebral hemorrhage, Long toe, Lo...	OMIM:608836
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ventricular se...	ORPHA:139466
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Cryptor...	ORPHA:166035
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy...	ORPHA:3301
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Gastroesophageal reflux, Holoprosencephaly, Adv...	ORPHA:818
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Death in infancy, Proteinuria, Pancreatic cysts, Chr...	OMIM:208500
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Chronic otitis media, Finger synda...	ORPHA:2750
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly	OMIM:619981
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastroint...	OMIM:270400
Polyvalvular Heart Disease Syndrome	Dental crowding, Abnormal heart valve morphology, Abnormal pinna morphology, Mitral valve prolaps...	ORPHA:228410
Mohr Syndrome	Syndactyly, Median cleft lip, Accessory oral frenulum, Preaxial hand polydactyly, Postaxial hand ...	OMIM:252100
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft palate, Genu ...	OMIM:614078
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Renal cyst, Death in childhood, Proximal tubulopathy, Protein-losing enteropathy...	OMIM:602579
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ...	ORPHA:857
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge...	OMIM:619721
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal agenesis, Abnormal pinna m...	ORPHA:1297
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod...	OMIM:617137
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, High, narrow palate, Aplasia/Hypoplasia of the m...	ORPHA:96149
Noonan Syndrome 11	Atrial septal defect, Posteriorly rotated ears, Thick vermilion border, Bilateral sensorineural h...	OMIM:618499
Floating-Harbor Syndrome	Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Oligodontia, Short philtrum, Gastroesophage...	ORPHA:2044
Bardet-Biedl Syndrome 8	Hypospadias, Renal dysplasia, Postaxial polydactyly	OMIM:615985
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,...	OMIM:600987
Zechi-Ceide Syndrome	Sandal gap, Cleft lip, Conductive hearing impairment, Short metatarsal, Abnormal earlobe morpholo...	ORPHA:217017
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Oligodontia, Small earlobe, Prominent palat...	OMIM:272950
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Metatarsus adductus, Cryptorchidism, Optic nerve dysplasia, Clef...	OMIM:214110
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Sarcosinemia	Optic atrophy, Infantile sensorineural hearing impairment, Pulmonic stenosis, Hypersarcosinuria, ...	ORPHA:3129
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,...	OMIM:250410
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Hearing impairment, Hyp...	ORPHA:85201
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Jacobsen Syndrome	Pachygyria, Long hallux, Abnormality of the anus, Low-set, posteriorly rotated ears, Broad hallux...	ORPHA:2308
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Renal cyst, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Clinodactyly of the 5th ...	OMIM:616975
Kabuki Syndrome 2	Protruding ear, High palate, Atrial septal defect, Prominent fingertip pads, Atrioventricular can...	OMIM:300867
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Renal insufficiency, Anophthalmia, Proteinuria, Delayed erup...	ORPHA:90321
Atelosteogenesis Type I	Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a...	ORPHA:1190
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis, Hearing impairment	OMIM:178651
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal malrotation, Dextroca...	OMIM:619657
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,...	OMIM:300707
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Cleft palate, High ...	OMIM:619736
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Cerebrofacioarticular Syndrome	Irregular dentition, Syndactyly, Anal stenosis, Hypospadias, Narrow mouth, Conductive hearing imp...	ORPHA:314679
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, High, narrow palate, Renal cyst, Downturned corners of mouth, Nephroc...	ORPHA:369837
Hamamy Syndrome	High palate, Atrial septal defect, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tapered ...	OMIM:611174
Peroxisome Biogenesis Disorder 3A (Zellweger)	Vascular dilatation, Epiphyseal stippling, Low-set ears, Polycystic kidney dysplasia	OMIM:614859
Joubert Syndrome 10	Deep philtrum, Thick vermilion border, Postaxial polydactyly	OMIM:300804
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Atrial septal defect, Hepatoblastoma, Poste...	OMIM:312870
Joubert Syndrome 37	Posteriorly rotated ears, Postaxial polydactyly, Cryptorchidism, Hydronephrosis, High palate, Low...	OMIM:619185
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Hydroceph...	OMIM:612938
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,...	OMIM:618460
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t...	ORPHA:3103
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral...	ORPHA:93307
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial...	ORPHA:476126
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Posteriorly rotated ...	OMIM:239300
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Polymicrogyria, Lissencephaly, Renal cyst	OMIM:614883
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Postaxial hand polydactyly, Hydrocephalus, Optic disc colobom...	OMIM:608091
Transketolase Deficiency	Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P...	ORPHA:488618
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Dislocated radial head, Syndactyly...	ORPHA:2839
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Renal cyst, Gastroeso...	OMIM:113620
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyl...	ORPHA:397590
Distal Deletion 10Q	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Functional abnormality of the blad...	ORPHA:96148
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h...	OMIM:619879
Cockayne Syndrome Type 2	Anophthalmia, Delayed eruption of primary teeth, Hearing impairment, Cryptorchidism, Widely space...	ORPHA:90322
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Agene...	ORPHA:141099
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Dyrk1A-Related Intellectual Disability Syndrome	Renal cyst, Protruding ear, Gastroesophageal reflux, Clinodactyly of the 5th finger, Micropenis, ...	ORPHA:464306
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Tibial bowing, Protruding ear, Spina bifida occulta, Long hallux, Multicystic kidney dysplasia, V...	ORPHA:500095
Marden-Walker Syndrome	Arachnodactyly, Hypospadias, Dextrocardia, High, narrow palate, Narrow mouth, Pyloric stenosis, C...	OMIM:248700
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormality of the kidney, Protruding tongue, Hydrocephalus, Optic atrop...	ORPHA:93400
Trisomy 10P	Abnormality of the ear, Simplified gyral pattern, Orofacial cleft, High palate, Gastroesophageal ...	ORPHA:171929
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Cryptorchidism, Dental malocclusion, P...	ORPHA:2115
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Hypoplasti...	OMIM:616910
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Frontonasal Dysplasia 2	Encephalocele, Tessier number 13 facial cleft, Conical tooth, Bilateral cryptorchidism, Widely sp...	OMIM:613451
Bardet-Biedl Syndrome 3	Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pulmonic stenosis...	OMIM:613312
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Tapered fin...	ORPHA:464311
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,...	OMIM:615989
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Joubert Syndrome 27	Dilatation of the renal pelvis, Thick lower lip vermilion, Polydactyly	OMIM:617120
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,...	OMIM:141400
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal...	ORPHA:3429
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Hy...	OMIM:616737
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Bronchiectasis, Abno...	ORPHA:980
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Sensorineural hearing impairment, Optic atr...	OMIM:615636
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ...	ORPHA:2241
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in...	ORPHA:199306
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Unilateral cryptorchidism, Abnormal pulmonary valve morphology, Optic n...	ORPHA:137634
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Pachygyria, High, narrow palate, Hydroc...	ORPHA:228308
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ea...	ORPHA:284169
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Cleft upper lip, Short thumb,...	OMIM:612561
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil...	OMIM:617056
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Epispadias, Preaxial polydactyly, Simplified gyral pattern, Aplasia of t...	OMIM:615948
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Cleft palate, Horseshoe kidney, Narrow pelvis bone, Hammer...	OMIM:608022
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, High, narrow ...	ORPHA:3015
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Ventricular septal defect, Intestina...	ORPHA:457193
Leopard Syndrome 1	Scapular winging, Hypospadias, Posteriorly rotated ears, Limited elbow movement, Unilateral renal...	OMIM:151100
Microphthalmia, Syndromic 6	Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Protruding ear, High palate, Cli...	OMIM:607932
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Thin upper lip vermilion, Tapered finger, Gingival overgrowth, Hip dysplasia, U...	OMIM:616977
Peroxisome Biogenesis Disorder 5A (Zellweger)	Single transverse palmar crease, Renal cyst, High palate, Atrial septal defect, Pachygyria, Hypos...	OMIM:614866
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly rotated e...	ORPHA:1908
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad...	OMIM:305450
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,...	OMIM:612562
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Pentalogy Of Cantrell	Encephalocele, Hypospadias, Renal agenesis, Abnormal pericardium morphology, Ventricular septal d...	ORPHA:1335
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Tyshchenko Syndrome	Ventricular septal defect, Posteriorly rotated ears, High, narrow palate, Cryptorchidism, Cleft p...	OMIM:615102
Retinitis Pigmentosa 89	Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly	OMIM:618955
Septooptic Dysplasia	Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger	OMIM:182230
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Joubert Syndrome 15	Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis	OMIM:614464
Diprosopus	External ear malformation, Non-midline cleft lip, Anencephaly, Cleft palate, Abnormal cardiac sep...	ORPHA:1681
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Proteinuria, Abnormal palmar dermatoglyphics, Cryptorchidism, Cleft palate,...	ORPHA:2728
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Arima Syndrome	Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chronic kidney disea...	OMIM:243910
Frontoocular Syndrome	Posteriorly rotated ears, Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, Atrial s...	OMIM:605321
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Short metatarsal, Renal cyst, Widely spaced teeth, High palate, Nephronopht...	OMIM:266920
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Posteriorly rotated ears, Deep philtrum, Patent ductus arteriosus, Renal cyst, Coarctation of aor...	OMIM:617260
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Triangular mouth, Flattened epiphysis, Genu valgum, Polydac...	OMIM:607131
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Dental malocclusi...	OMIM:606232
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Renal malrotation, Ventricular septal defect, Bowing of the legs, Macrotia, Sens...	OMIM:617107
Recombinant 8 Syndrome	Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, Chronic otitis...	ORPHA:96167
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Dicarboxylic aciduria, Pulmonic stenosis	ORPHA:79159
Schinzel-Giedion Syndrome	Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed anus, Short philtrum, Hi...	ORPHA:798
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts...	OMIM:267010
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou...	OMIM:236700
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol...	OMIM:616629
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Abnormal dental enamel morphology, Hearing ...	ORPHA:2556
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Atrial septal defect, Multicystic kidney dysplasia, Low-set, posteriorly ro...	ORPHA:1052
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Hypospadias, Abnormal pinna morphology, Proximal placement of thumb, Tracheomalacia, ...	OMIM:217980
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge...	OMIM:274000
Tetrasomy 9P	Glue ear, Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly...	ORPHA:3310
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate...	OMIM:119800
Mend Syndrome	Overlapping toe, Broad hallux, Posteriorly rotated ears, Long fingers, Cryptorchidism, Hydrocepha...	OMIM:300960
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate	OMIM:614120
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo...	ORPHA:352665
Meckel Syndrome 13	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:617562
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Con...	OMIM:154400
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Increased density of long bone diaphyses, High ...	OMIM:305620
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Peters Plus Syndrome	Ureteral duplication, Micromelia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, W...	ORPHA:709
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Hematuria, Lacunar stroke, Dilata...	OMIM:611773
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Hydrocephalus, Vascular...	OMIM:603387
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th fing...	OMIM:614701
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal...	ORPHA:1225
2P15P16.1 Microdeletion Syndrome	Protruding ear, High palate, Bilateral single transverse palmar creases, Multicystic kidney dyspl...	ORPHA:261349
Laurence-Moon Syndrome	Micropenis, Polydactyly, Abnormality of the hand	OMIM:245800
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Hypospadias, Metatarsus adductus, Short thumb, High, narrow pala...	ORPHA:436003
Desmosterolosis	Micromelia, Pachygyria, Bifid uvula, Low-set, posteriorly rotated ears, Patent ductus arteriosus,...	ORPHA:35107
Joubert Syndrome 35	Recurrent urinary tract infections, Multicystic kidney dysplasia, Single transverse palmar crease...	OMIM:618161
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Ren...	OMIM:615560
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Intestinal ma...	ORPHA:2166
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Orofacial cleft, High palate, Short phil...	ORPHA:221120
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Cupped ea...	OMIM:616367
Joubert Syndrome 1	Optic disc pallor, Protruding tongue, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst...	OMIM:213300
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl...	ORPHA:313781
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip d...	OMIM:616362
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Oligodontia, Conductive hearing impairment, Micropenis, Cleft soft palate, Crypt...	OMIM:616331
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral refl...	OMIM:616894
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Protruding ear, Vesicoureteral ...	ORPHA:96169
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Clinodactyly, Cleft palate, Micropenis	OMIM:614838
Chromosome 17Q12 Deletion Syndrome	Renal cyst, Protruding ear, High palate, Short palm, Long toe, Multicystic kidney dysplasia, Cryp...	OMIM:614527
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Chronic oti...	OMIM:101200
Hajdu-Cheney Syndrome	Downturned corners of mouth, Periodontitis, Partial absence of toe, Hypospadias, Open bite, Short...	ORPHA:955
Cranioectodermal Dysplasia 2	Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Microdontia, Pat...	OMIM:613610
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Pulmonic stenosis, Dysphagia, Abnormal helix m...	ORPHA:638
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Cry...	OMIM:610733
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Large fleshy ears, High palate, Gastroesophageal reflux, Atrial septal defe...	OMIM:614080
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Clino...	ORPHA:373
Joubert Syndrome 17	Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Trisomy 8Q	Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, ...	ORPHA:1752
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Myelomeningocele, Hydronephr...	OMIM:620141
Opitz Gbbb Syndrome	Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Posteriorly rotated ears, Cleft...	OMIM:300000
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, ...	OMIM:180849
Okamoto Syndrome	Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Primum atrial septal de...	ORPHA:2729
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Abnormal pinna morphology, Glutaric aciduria, Lacticaciduria, Abnormal heart mo...	ORPHA:26791
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Oligodontia, Hi...	ORPHA:453499
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, High, narrow palate, Short philtrum,...	ORPHA:464738
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Hydrocephalus, Red-brown urine, Abnormality of neuronal migration, Stage 5 chronic ki...	ORPHA:157
Orofaciodigital Syndrome Type 2	Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn...	ORPHA:2751
Legius Syndrome	Posteriorly rotated ears, High, narrow palate, Supravalvar pulmonary stenosis, High palate, Low-s...	OMIM:611431
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Split hand, Hypopla...	OMIM:200980
Joubert Syndrome 39	Occipital encephalocele, Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the ...	OMIM:619562
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Trisomy 18	Pointed helix, Holoprosencephaly, Atrial septal defect, Bilateral single transverse palmar crease...	ORPHA:3380
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula	OMIM:619239
Trisomy 8P	Short fourth metatarsal, Single transverse palmar crease, Abnormal atrioventricular connection, F...	ORPHA:264450
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobility, Micropenis	OMIM:244200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St...	OMIM:613095
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Postaxial hand polyda...	ORPHA:1454
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn...	DECIPHER:81
Rhizomelic Syndrome	Rhizomelia, Bifid distal phalanx of the thumb, Hip dislocation, Pulmonic stenosis, Complete dupli...	OMIM:268250
Noonan Syndrome 7	Thickened helices, Large earlobe, Deep palmar crease, Thick vermilion border, Impaired oropharyng...	OMIM:613706
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Rhizomelia, Overlappi...	ORPHA:3379
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Ventricular septal defect, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus...	OMIM:600460
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Gastroesophageal reflux, Vesicoureteral re...	OMIM:616580
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Atrial septal defect, Hypospadias, Ventricular septal defect, Tracheal ...	OMIM:300712
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, High, narrow palate, Aminoaciduria, High palate, Ulnar deviation...	OMIM:214100
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d...	ORPHA:163979
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:110
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ...	ORPHA:2010
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis,...	OMIM:253800
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Pancreatic cy...	OMIM:208540
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, Abnormality of the kid...	OMIM:209900
Loeys-Dietz Syndrome 1	Arachnodactyly, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortu...	OMIM:609192
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Abnormal cerebral vascu...	ORPHA:2165
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Gastroesophageal reflux...	OMIM:615873
Aase-Smith Syndrome I	Death in infancy, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Bicuspid aortic valve, High palate, Gastroesophageal reflux, Otitis media, Vesic...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Bicuspid aortic valve, High palate, Gastroesophageal reflux, Otitis media, Vesic...	ORPHA:353277
Congenital Disorder Of Glycosylation, Type Ia	Thin upper lip vermilion, Villous atrophy, Pericarditis, Proteinuria, Pericardial effusion, Renal...	OMIM:212065
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Iliac horns, Clinodactyly of the 5...	OMIM:161200
Snijders Blok-Campeau Syndrome	Taurodontia, High palate, Widely spaced teeth, Perimembranous ventricular septal defect, Pulmonic...	OMIM:618205
Kinsship Syndrome	Thin upper lip vermilion, Death in infancy, Single transverse palmar crease, Coxa valga, Thick lo...	OMIM:619297
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Atrial septal defect, Exaggerated cupid's bow, Camptodactyly of finger,...	ORPHA:261236
1P36 Deletion Syndrome	Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Clinodactyly of the 5th finger, Conduct...	ORPHA:1606
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta...	ORPHA:97362
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Renal cyst, Death in infancy	OMIM:614862
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor...	ORPHA:570
Pallister-Hall Syndrome	Ectopic kidney, Holoprosencephaly, Atrial septal defect, Micropenis, Atrioventricular canal defec...	ORPHA:672
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Cleft lip, Cryptorchidism, Cleft palate, Protruding ear, Pulmonic sten...	OMIM:619123
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Intestinal pseudo-obstruction, Left atrial enlargement, Pulmonic stenosis	OMIM:616201
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, No...	ORPHA:245
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Cor triatriatum, Prominent superficial veins, Single transver...	OMIM:612541
Costello Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Abnormal dental enamel morphology, ...	ORPHA:3071
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Proximal femoral metaphyseal irregularity, Early ossification of capital...	ORPHA:397715
Faciocardiorenal Syndrome	Horseshoe kidney, Cleft palate, Protruding ear, Endocardial fibroelastosis, Hypodontia, Tricuspid...	ORPHA:1973
Weill-Marchesani Syndrome	Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly	ORPHA:3449
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip,...	OMIM:100300
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, Protruding ear,...	ORPHA:534
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop...	OMIM:617895
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Toriello-Carey Syndrome	Aganglionic megacolon, Abnormal pinna morphology, Hearing impairment, Cryptorchidism, Patent duct...	ORPHA:3338
Marcus-Gunn Syndrome	Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Cleft lip, Nephrolithiasis, Cle...	ORPHA:91412
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Downturned corners of mouth, Widely...	ORPHA:199
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia	OMIM:211890
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft upper lip, Palmar...	OMIM:109400
Achondrogenesis, Type Ii	Broad long bones, Short tubular bones of the hand, Abnormally large globe, Cleft palate, Short lo...	OMIM:200610
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megaco...	OMIM:614749
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Ventricular septal defect, Abnormality of the dentition, Deep philtru...	ORPHA:251038
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Microspherophakia, Pulmonic stenosis, Brachydactyly	OMIM:614819
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy, Renal cyst, Stroke-like ep...	ORPHA:137675
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate	ORPHA:2521
Mowat-Wilson Syndrome	Dental crowding, Urinary incontinence, Bicuspid aortic valve, Uplifted earlobe, Cleft hard palate...	ORPHA:2152
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Congenital malformation of the left heart, Wide penis, Abnormality of the ...	ORPHA:3455
Pagod Syndrome	Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Situs invers...	ORPHA:991
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Urinary incontinence, Bicuspid aortic valve, Uplifted earlobe, Cleft hard palate...	ORPHA:261537
Isolated Arrhinia	Microphthalmia, Microtia, Facial cleft	ORPHA:1134
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact...	OMIM:614976
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Tracheal calcification, Epiphyseal ...	OMIM:302960
Cardiofaciocutaneous Syndrome	High palate, Thickened helices, Atrial septal defect, Low-set, posteriorly rotated ears, Abnormal...	ORPHA:1340
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Gastrointestinal inflammation, A...	ORPHA:79404
Neurocardiofaciodigital Syndrome	Syndactyly, Atrial septal defect, Optic disc pallor, Patent ductus arteriosus, Double inlet left ...	OMIM:619869
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Deep philtrum, High palate, Gastroesophageal reflux, Atr...	OMIM:115150
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Facial palsy, Cleft lip, Sensorineural hearing impairment, Cleft palate...	OMIM:301022
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Vesicoureteral ref...	ORPHA:353281
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Esophageal varix, Pulmonic stenosis, Right ventricular hypertrophy, Um...	OMIM:616028
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate, Forearm undergrow...	OMIM:251230
Non-Syndromic Posterior Hypospadias	Esophageal atresia, Ventral shortening of foreskin, Cleft palate, Urethral diverticulum, Displace...	ORPHA:95706
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Cryptorchidism, Conductive hearing impairment, Sensorineural h...	ORPHA:1131
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Arachnodactyly, Palmoplantar cutis gyrata, Cryptorchidism, Abnormality of primary teeth...	ORPHA:75496
Kabuki Syndrome	Hypoplasia of penis, Orofacial cleft, Protruding ear, High palate, Widely spaced teeth, Microdont...	ORPHA:2322
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Patent ductu...	OMIM:602782
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Rabson-Mendenhall Syndrome	Atrial septal defect, Dental crowding, Ventricular septal defect, Abnormality of the dentition, L...	ORPHA:769
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Hydroce...	ORPHA:77301
3Mc Syndrome 1	Atrial septal defect, Dental crowding, Single interphalangeal crease of fifth finger, Ventricular...	OMIM:257920
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Arboleda-Tham Syndrome	Bilateral cryptorchidism, Secundum atrial septal defect, Anteverted ears, Downturned corners of m...	OMIM:616268
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Abnormal mitochondrial shape, Short femur, Hypospadias, Patent ductus arteriosus, ...	ORPHA:17
Weill-Marchesani Syndrome 2	Short metatarsal, High palate, Thickened helices, Broad metacarpals, Short metacarpal, Patent duc...	OMIM:608328
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria	ORPHA:445038
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thin upper lip vermilion, Hiatus hernia, Pancreatic cysts, Sensorineural hearing impairment, Rena...	OMIM:610199
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Hydroceph...	ORPHA:2306
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s...	OMIM:212093
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup...	OMIM:617088
Retinitis Pigmentosa 51	Polydactyly, Abnormality of the kidney	OMIM:613464
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis	OMIM:616559
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly ...	OMIM:280000
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, High palate, Phocomelia, Atrial septal defect, Wrist flexion contracture, Syndac...	OMIM:268300
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Conica...	OMIM:263750
Culler-Jones Syndrome	Cleft palate, Micropenis, Postaxial polydactyly, Cleft upper lip	OMIM:615849
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch...	OMIM:614099
C Syndrome	Death in infancy, Multicystic kidney dysplasia, Toe syndactyly, Micromelia, Accessory oral frenul...	ORPHA:1308
Noonan Syndrome 8	Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmon...	OMIM:615355
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, D...	OMIM:300855
Genitopatellar Syndrome	Congenital hip dislocation, Anteriorly placed anus, Atrial septal defect, Micropenis, Pachygyria,...	OMIM:606170
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Abnormal pinna morphology, Micromelia, Postaxial hand polydactyly, Hypoplasia ...	OMIM:200995
Atelis Syndrome 2	Single transverse palmar crease, Diastema, Patent ductus arteriosus, Thick lower lip vermilion, S...	OMIM:620185
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Overriding aorta, Rena...	ORPHA:3186
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal pinna morphology, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Pr...	OMIM:231680
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Renal agenesis, Anomalous origin of left coronary artery from the pulmona...	ORPHA:2326
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Dental crowding, Vascular dilatation, Long fingers, Varicose veins, Thin vermi...	OMIM:618343
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Low-set, posteriorly rotated ears, Scapular winging, Hypospadias...	ORPHA:500
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Fat malabsorption, Renal cyst, Steatorrhea	ORPHA:79303
Noonan Syndrome 5	Thickened helices, Cryptorchidism, Wide mouth, Thick vermilion border, Pulmonic stenosis, Low-set...	OMIM:611553
Spondylodysplastic Ehlers-Danlos Syndrome	Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Atrial septal ...	ORPHA:536471
Noonan Syndrome 14	Scapular winging, Posteriorly rotated ears, High, narrow palate, Cryptorchidism, Mitral valve pro...	OMIM:619745
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Dilated cardiomy...	OMIM:603736
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor...	ORPHA:2237
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Calcaneovalgus deformity, Patent foramen ovale, Finger syndactyly, Spina...	OMIM:256520
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Microdontia, Short phalanx...	OMIM:143095
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Urinary incontinence, Bicuspid aortic valve, Uplifted earlobe, Cleft hard palate...	ORPHA:261552
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity, Split hand, Renal cyst, Hammertoe, High palate, Talipes equi...	OMIM:261515
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Atrial septal defect,...	OMIM:164200
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Deep philtrum, Abnormal heart morphology, High palate, Polydactyly, L...	ORPHA:314655
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,...	OMIM:614609
Trichohepatoenteric Syndrome 1	Villous atrophy, Hypospadias, Ventricular septal defect, Avascular necrosis of the capital femora...	OMIM:222470
Syndromic Diarrhea	Villous atrophy, Gastritis, Bicuspid aortic valve, Ventricular septal defect, Hepatoblastoma, Pat...	ORPHA:84064
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Protruding ear, Widely spaced teeth, Gastroesophageal reflux, Micropenis, Hypospadias, Cleft soft...	ORPHA:268261
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia...	OMIM:114290
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Periventricular heterotopia, Simple ear, Decreased nerve conduction vel...	OMIM:618733
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial septal defect, ...	ORPHA:480880
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Heari...	OMIM:301043
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Cl...	OMIM:614294
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Abnormality of the dentition, Bronchiectasis, High palate, Recurrent otitis media, Pulmonic steno...	OMIM:618282
Limb Body Wall Complex	Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proximal phalanges of the hand,...	ORPHA:2369
Cystic Echinococcosis	Abnormality of the testis size, Renal cyst, Abnormal heart morphology, Membranous nephropathy, Ov...	ORPHA:400
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Limited elbow move...	OMIM:261540
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem...	OMIM:600920
Thoracoabdominal Syndrome	Hypospadias, Renal agenesis, Cleft upper lip, Patent ductus arteriosus, Hydrocephalus, Anencephal...	OMIM:313850
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Adnp Syndrome	Single transverse palmar crease, Urinary incontinence, Oral-pharyngeal dysphagia, Abnormal finger...	ORPHA:404448
Joubert Syndrome 23	Polydactyly	OMIM:616490
Tetraamelia Syndrome 2	Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso...	OMIM:618021
Catel-Manzke Syndrome	Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid...	OMIM:616145
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Microspherophakia, Broad palm, Narrow palate...	OMIM:277600
Axial Osteomalacia	Renal cyst	OMIM:109130
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, High pa...	OMIM:608670
Monosomy 13Q34	Posteriorly rotated ears, Postaxial hand polydactyly, Fetal pyelectasis, Abnormal earlobe morphol...	ORPHA:96168
Noonan Syndrome 2	Atrial septal defect, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect...	OMIM:605275
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolithiasis, Renal cyst,...	ORPHA:18
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Legius Syndrome	Nephrolithiasis, Desmoid tumors, Mitral valve prolapse, Diaphyseal dysplasia, Vestibular schwanno...	ORPHA:137605
Larsen Syndrome	Short metatarsal, Atrial septal defect, Conductive hearing impairment, Spina bifida occulta, Shor...	OMIM:150250
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Patent ductus arteriosus, Arteri...	ORPHA:1556
Myhre Syndrome	Abnormal penis morphology, Brachydactyly, Hypospadias, Hearing impairment, Narrow mouth, Cryptorc...	ORPHA:2588
Kagami-Ogata Syndrome	Atrial septal defect, Ventricular septal defect, Coxa valga, Long fingers, Patent ductus arterios...	OMIM:608149
Noonan Syndrome 10	Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coarct...	OMIM:616564
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Abnormal humer...	ORPHA:464329
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Optic atrophy, Protruding ear, Thick vermilion border, Long philtrum, Atrial septal...	ORPHA:2526
Diamond-Blackfan Anemia 10	Ventricular septal defect, Posteriorly rotated ears, Hearing impairment, Ectopic kidney, Patent d...	OMIM:613309
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Abn...	ORPHA:2753
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card...	OMIM:615279
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Single transverse palmar crease, Ventricular septal defect, Hydroc...	OMIM:309801
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Deep philtrum, High palate, Widely spaced teeth, Thickened helices, Atrial septal defect, Patent ...	OMIM:617506
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Mitral valve pro...	OMIM:609008
Bardet-Biedl Syndrome 20	Papilledema, Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydac...	OMIM:619471
Multifocal Atrial Tachycardia	Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	ORPHA:3282
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Ectopic kidney, Prominent interphalangeal joints,...	OMIM:135900
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R...	OMIM:270420
17Q24.2 Microdeletion Syndrome	Thin upper lip vermilion, Otosclerosis, Patent ductus arteriosus after birth at term, Tooth malpo...	ORPHA:529962
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Posteriorly rotated ears, Rocker bottom foot, Single transverse palma...	OMIM:617527
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Atrial septal defect, Ventricular septal de...	OMIM:118450
Melnick-Needles Syndrome	Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses of the phalanges of the hand, Short clavi...	OMIM:309350
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Cleft lip, Patent ductus arteriosus, Cupped ear, Overfolded helix, Narrow palate, Cleft palate, C...	OMIM:618223
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Protruding ear, ...	OMIM:619534
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Optic atrophy, Double outlet right ventricle, Coarctati...	OMIM:618164
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Atrial septal defect...	OMIM:304120
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Abnormality of the dentition, Sensorineural hearing impairment, Cl...	ORPHA:90354
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Nephrocalcinosis...	ORPHA:79500
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral...	OMIM:194050
Renpenning Syndrome 1	Protruding ear, High palate, Short philtrum, Atrial septal defect, Clinodactyly of the 5th finger...	OMIM:309500
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P...	ORPHA:93111
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Protrudi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Protrudi...	ORPHA:363958
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota...	ORPHA:2255
Tbck-Related Intellectual Disability Syndrome	Broad toe, Neurogenic bladder, Tented upper lip vermilion, Ventricular septal defect, High, narro...	ORPHA:488632
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Renal cy...	OMIM:601803
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, High palate, Atrial septal defec...	OMIM:218040
Tuberous Sclerosis 2	Hearing impairment, Absence of renal corticomedullary differentiation, Gingival fibromatosis, Ren...	OMIM:613254
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Posterior...	ORPHA:116
Cardiofaciocutaneous Syndrome 4	Optic nerve hypoplasia, Ventricular septal hypertrophy, Palmoplantar hyperkeratosis, Abnormal aor...	OMIM:615280
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma,...	OMIM:191100
Holoprosencephaly 14	Median cleft lip, Ventricular septal defect, Periventricular heterotopia, Alobar holoprosencephal...	OMIM:619895
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Abnormal pericardium morphology, Pancreatic cysts, Vertigo, Rena...	ORPHA:284
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Cryptorchidism, Sensorineural hearing impairment, Proximal renal tubular acidosis, Postaxial poly...	OMIM:615824
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Conductive hear...	OMIM:218600
X-Linked Intellectual Disability, Armfield Type	Cryptorchidism, Patent ductus arteriosus, Abnormality of the elbow, Small hand, Cleft palate, Sho...	ORPHA:85276
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormality of the dentition, Secundum atrial septal defect, Wide mouth, Prominent antihelix, Pul...	OMIM:615802
Mosaic Trisomy 20	Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, Hearing impairment,...	ORPHA:1724
Orofaciodigital Syndrome Type 14	Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Accessory oral frenulum...	ORPHA:434179
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hydrocephalus, Optic atrophy...	ORPHA:538
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Peptic ulcer, Testicular neoplasm, Nephrolithiasis, Renal c...	ORPHA:99880
Kabuki Syndrome 1	Congenital hip dislocation, Protruding ear, High palate, Atrial septal defect, Prominent fingerti...	OMIM:147920
Proteus Syndrome	Abnormal finger morphology, Renal cyst, Clinodactyly of the 5th finger, Abnormality of the wrist,...	ORPHA:744
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Peptic ulcer, Testicular neoplasm, Nephrolithiasis, Renal c...	ORPHA:143
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a...	OMIM:613795
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Sensorineural hearing impairment, Optic atrophy, Renal cyst, Epiphyseal stippling	OMIM:601539
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal mo...	ORPHA:363700
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Hydroceph...	ORPHA:457284
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ventricular septal defect, Cleft lip, Pul...	OMIM:611812
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Noonan Syndrome 1	Hypospadias, Ventricular septal defect, Hearing impairment, High, narrow palate, Cryptorchidism, ...	OMIM:163950
Mowat-Wilson Syndrome	Uplifted earlobe, Widely spaced teeth, Atrial septal defect, Hypospadias, Abnormality of the kidn...	OMIM:235730
Pearson Syndrome	Renal insufficiency, Proteinuria, Hearing impairment, Lacticaciduria, Renal cyst, Steatorrhea, Ab...	ORPHA:699
Aneurysm-Osteoarthritis Syndrome	High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial tortuosity, Patent ...	ORPHA:284984
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Esophageal varix, Renal hypo...	ORPHA:84081
Mody	Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy	ORPHA:552
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Pulmonic stenosis, Chylopericardium	ORPHA:2414
Noonan Syndrome 3	Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Cryptorchidism, Patent du...	OMIM:609942
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Tented philtrum, Renal cyst, Anteriorly plac...	ORPHA:495875
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Abnormal bronchus morp...	ORPHA:100078
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis	OMIM:185500
Ulbright-Hodes Syndrome	High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Cryptorchidism, Humeroradia...	ORPHA:3404
Noonan Syndrome 6	Cryptorchidism, Sensorineural hearing impairment, Low-set ears, Pulmonic stenosis, Hypertrophic c...	OMIM:613224
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Renal insufficiency, Recurrent urinary tract inf...	ORPHA:731
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Pulmonic stenosis	OMIM:619433
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Anteriorly placed anus, Ureterocel...	OMIM:604292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus...	OMIM:615287
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Hematuria, Intracranial hemorrhage,...	ORPHA:99147
Von Hippel-Lindau Disease	Papilledema, Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Vertigo, Cardio...	ORPHA:892
Keutel Syndrome	Calcification of the auricular cartilage, Ventricular septal defect, Recurrent bronchitis, Short ...	OMIM:245150
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Ventricular septal defect, Posteriorly rotated ears, Cryptorchidism...	OMIM:607721
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Thin vermilion border, Renal cortical cysts	OMIM:609180
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Mpdu1-Cdg	Thin vermilion border, Optic atrophy, Absence of acoustic reflex, Renal cortical cysts	ORPHA:79323
Beckwith-Wiedemann Syndrome	Hepatoblastoma, Cardiomegaly, Cryptorchidism, Nephrolithiasis, Renal cortical cysts, Nephrocalcin...	OMIM:130650
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Epidermal Nevus Syndrome	Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Sensorineural hearing impairment, Pulmonic stenosis, Coarctation o...	OMIM:614300
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Gastroesophageal reflux, Pulmonic stenosis, Protruding tongue	OMIM:614325
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral renal agenesis, Rena...	OMIM:308205
Joubert Syndrome 5	Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re...	OMIM:610188
Von Hippel-Lindau Syndrome	Pancreatic cysts, Vertigo, Sensorineural hearing impairment, Renal cell carcinoma, Multiple renal...	OMIM:193300
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Complete Atrioventricular Septal Defect	Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o...	ORPHA:1329
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d...	OMIM:615508
Retinitis Pigmentosa 74	Abnormal renal morphology, Polydactyly	OMIM:616562
Immunodeficiency 96	Recurrent otitis media, Multicystic kidney dysplasia	OMIM:619774
Intellectual Developmental Disorder, Autosomal Dominant 45	Arachnodactyly, Pulmonic stenosis	OMIM:617600
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Atrial septal defect, Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Crypto...	ORPHA:438213
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Caroli Disease	Cholangiocarcinoma, Esophageal varix, Polycystic kidney dysplasia	ORPHA:53035
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st...	OMIM:620067
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Uplifted earlobe, Renal cortical cysts, Downturned corners of mouth, Lo...	OMIM:618548
Caroli Syndrome	Cholangiocarcinoma, Abnormality of the kidney, Hematemesis, Esophageal varix, Melena, Polycystic ...	ORPHA:480520
Faciocardiomelic Syndrome	Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtru...	OMIM:612731
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly, Abnormality of neuronal migration	ORPHA:163681
Choanal Atresia	Tracheomalacia, Polydactyly	ORPHA:137914
17Q11 Microdeletion Syndrome	Bowing of the legs, Gastrointestinal stroma tumor, Abnormal internal carotid artery morphology, R...	ORPHA:97685
Neurofibromatosis-Noonan Syndrome	Posteriorly rotated ears, Secundum atrial septal defect, Cryptorchidism, Thick vermilion border, ...	OMIM:601321
Watson Syndrome	Low-set ears, Posteriorly rotated ears, Pulmonic stenosis	OMIM:193520
Pmm2-Cdg	Thin upper lip vermilion, Pericarditis, Proteinuria, Abnormal pinna morphology, Impaired neutroph...	ORPHA:79318
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Holoprosencephaly, Abnormal digit mor...	ORPHA:95494
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, 2-3 finger syndactyly, Subvalvular...	ORPHA:1338
Bardet-Biedl Syndrome 15		OMIM:615992

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 Wdpcp

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 Wdpcp.

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Wdpcp^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Wdpcp^{tm229(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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