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 |
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Thin upper lip vermilion, Uplifted earlobe, Renal cortical cysts, Downturned corners of mouth, Lo... |
OMIM:618548 |
Caroli Syndrome |
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Cholangiocarcinoma, Abnormality of the kidney, Hematemesis, Esophageal varix, Melena, Polycystic ... |
ORPHA:480520 |
Faciocardiomelic Syndrome |
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Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtru... |
OMIM:612731 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Preaxial polydactyly, Abnormality of neuronal migration |
ORPHA:163681 |
Choanal Atresia |
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Tracheomalacia, Polydactyly |
ORPHA:137914 |
17Q11 Microdeletion Syndrome |
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Bowing of the legs, Gastrointestinal stroma tumor, Abnormal internal carotid artery morphology, R... |
ORPHA:97685 |
Neurofibromatosis-Noonan Syndrome |
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Posteriorly rotated ears, Secundum atrial septal defect, Cryptorchidism, Thick vermilion border, ... |
OMIM:601321 |
Watson Syndrome |
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Low-set ears, Posteriorly rotated ears, Pulmonic stenosis |
OMIM:193520 |
Pmm2-Cdg |
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Thin upper lip vermilion, Pericarditis, Proteinuria, Abnormal pinna morphology, Impaired neutroph... |
ORPHA:79318 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Holoprosencephaly, Abnormal digit mor... |
ORPHA:95494 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
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Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, 2-3 finger syndactyly, Subvalvular... |
ORPHA:1338 |
Bardet-Biedl Syndrome 15 |
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OMIM:615992 |