Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Meckel Syndrome, Type 4 |
|
Hydrocephalus, Atrial septal defect, Microphthalmia, Cleft palate, Anencephaly, Ventricular septa... |
OMIM:611134 |
Gombo Syndrome |
|
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia |
OMIM:233270 |
Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Meckel Syndrome, Type 3 |
|
Hydrocephalus, Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Polydactyly, Malformatio... |
OMIM:607361 |
Meckel Syndrome, Type 5 |
|
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Renal cyst, Postaxial foo... |
OMIM:611561 |
Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand po... |
OMIM:603194 |
Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Cleft palate, Abnormal hip bone morphology, Upper limb phocom... |
ORPHA:294975 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Talipes equinovarus, Hepatomegaly, Pulmonic stenosis, Femoral bowing, Cyst... |
OMIM:615415 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Triploidy |
|
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Hydrocephalus, Wide mou... |
ORPHA:3376 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Cleft upper lip, Hydrocephalus, Talipes equinovarus, Cleft palate, Anence... |
OMIM:612284 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Cleft upper lip, Hydrocephalus, 2-3 toe syndactyly, Atrial septal defect, Cryp... |
OMIM:264480 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Bowing of the long bones, Short ... |
OMIM:614091 |
Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp... |
ORPHA:731 |
Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... |
OMIM:617927 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Atrial septal defect, Bilateral talipes equinovarus, Postaxial poly... |
OMIM:618142 |
Czeizel-Losonci Syndrome |
|
High palate, Hydrocephalus, Tracheoesophageal fistula, 2-3 finger syndactyly, Single transverse p... |
ORPHA:2437 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Midshaft hypospadias, Renal hypoplasia/aplasia, Tooth agenesis, Campto... |
ORPHA:2863 |
Femoral-Facial Syndrome |
|
Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cleft ... |
ORPHA:1988 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly |
OMIM:615397 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Anal atresia, Renal hyp... |
ORPHA:1590 |
Holoprosencephaly 5 |
|
High palate, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Oral cl... |
OMIM:609637 |
Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
Pallister-Hall Syndrome |
|
Cleft palate, Ventricular septal defect, Y-shaped metacarpals, Anteriorly placed anus, Microphtha... |
OMIM:146510 |
Short Rib-Polydactyly Syndrome |
|
Nephronophthisis, Cleft palate, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the l... |
ORPHA:1505 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micromelia, Delayed eruptio... |
OMIM:184260 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Malabsorption, Abnormality of the kidne... |
ORPHA:85445 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... |
OMIM:314390 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Micromelia, Tetralogy of Fallot, Ven... |
ORPHA:1908 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hypospadias, Hydrocephalus, Microphthalmia |
ORPHA:141333 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts, Abnormality of the liver |
DECIPHER:47 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Tapered... |
OMIM:608836 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia |
OMIM:613094 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Hepatomegaly, Anencephaly, Lobulated tongue, Ventricular septal defect, Median cle... |
OMIM:269860 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Oral cleft, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... |
OMIM:267010 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Talipes equinovarus, Joint contracture of the hand, Aminoaciduria, Hepatomegaly, Cleft palate, Hy... |
OMIM:214110 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Acalvaria |
|
Hydrocephalus, Cleft palate, Holoprosencephaly, Postaxial hand polydactyly, Spina bifida |
ORPHA:945 |
Trisomy 17P |
|
High palate, Wide mouth, Hydrocephalus, Clinodactyly of the 5th finger, Aortic valve stenosis, Hy... |
ORPHA:261290 |
Distal Monosomy 7Q36 |
|
Wide mouth, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Holoprosencephaly,... |
ORPHA:1636 |
Endocrine-Cerebroosteodysplasia |
|
Cleft upper lip, Hydrocephalus, Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly,... |
OMIM:612651 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... |
OMIM:613091 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Orofaciodigital Syndrome I |
|
High palate, Hydrocephalus, Cleft palate, Ovarian cyst, Lobulated tongue, Hepatic cysts, Carious ... |
OMIM:311200 |
Meckel Syndrome 14 |
|
Postaxial polydactyly, Holoprosencephaly, Single ventricle, Syndactyly, Postaxial hand polydactyl... |
OMIM:619879 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Micropenis, Hypospadias, Anence... |
OMIM:614175 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Wide mouth, Hepatomegaly, Hepatosplenomegaly, Long philtrum, ... |
OMIM:608776 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Short toe, Holoprosencephaly, Micropenis, Brachydactyly, Tapered finger, Cryptorchidism, Agenesis... |
OMIM:610680 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... |
OMIM:607323 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Overlapping toe, Narrow mouth, Hepatomegaly, Cleft palate, Micropenis, Arachnodac... |
ORPHA:83617 |
Mosaic Trisomy 9 |
|
High palate, Cleft palate, Abnormal liver lobulation, Micromelia, Finger clinodactyly, Ventricula... |
ORPHA:99776 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly, Epiphyseal stippling |
OMIM:614859 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... |
ORPHA:567983 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Occipital encephalocele, Flexion contracture |
OMIM:617562 |
Marden-Walker Syndrome |
|
High palate, Narrow mouth, Talipes equinovarus, Joint contracture of the hand, Cleft palate, Micr... |
OMIM:248700 |
Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Wide mouth, Cleft palate, Abnormality of the u... |
OMIM:249000 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial hand polydactyly, Short fourth metatarsal, Micropenis, Polyuria, Brachydactyly, Polydac... |
OMIM:615994 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Periportal fibrosis, Narrow greater sciatic notch, Flexion contractu... |
OMIM:263210 |
Fanconi Anemia, Complementation Group O |
|
Anal atresia, Miscarriage, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Neonata... |
OMIM:613390 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Tracheoesophageal fistula, An... |
ORPHA:77298 |
Thoraco-Abdominal Enteric Duplication |
|
Duodenal stenosis, Hepatomegaly, Intestinal malrotation, Camptodactyly of finger, Dextrocardia, M... |
ORPHA:1759 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cleft upper lip, Talipes equinovarus, Supernumerary nipple, Cleft palate, Holoprosen... |
OMIM:612530 |
Stromme Syndrome |
|
Wide mouth, Hydrocephalus, Duodenal atresia, Cleft palate, Preaxial polydactyly, Optic nerve hypo... |
OMIM:243605 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai... |
OMIM:619991 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Short femur, Holoprosencephaly, Anterior encephalocele, Ventricular septal defec... |
OMIM:601357 |
Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia, Encep... |
OMIM:613885 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inve... |
OMIM:613095 |
Mmep Syndrome |
|
Split foot, Oral cleft, Ventricular septal defect, Triphalangeal thumb, Median cleft lip, Microph... |
ORPHA:3434 |
Meckel Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Anencephaly, Furrowed tongue, Bowi... |
ORPHA:564 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Ureteral obstruction, Bowing of ... |
ORPHA:90652 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, In... |
OMIM:617866 |
Hartsfield Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the radius, Non-midline cleft lip, Microphthalmia, Split hand... |
ORPHA:2117 |
Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Clinodactyly of the 5th finger, Talipes equinovarus, Hyperphalangy ... |
OMIM:616145 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Cleft palate, Micropenis, Intestinal malrotation, Pancreatic fibrosis, Brac... |
OMIM:263520 |
Acromelic Frontonasal Dysostosis |
|
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cryptorchidism, Cleft palate,... |
OMIM:603671 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Hepatomegaly, High, narrow palate, Hepatic failure, Hepatic calcification, Myoglob... |
ORPHA:228308 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Abnormality of the kidney, Renal cyst, Polydactyly |
OMIM:615987 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... |
OMIM:618167 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:221950 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Hepatomegaly, Hepatic failure, Hepatic calcification, Myoglobinuria, Cystic renal ... |
ORPHA:157 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... |
OMIM:208500 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Syndactyly, Hepatic cysts, Ventricular septal defect, Renal cyst, Duplicati... |
OMIM:263630 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Branchiootorenal Syndrome 1 |
|
High palate, Euthyroid goiter, Cleft palate, Unilateral renal agenesis, Abnormal renal collecting... |
OMIM:113650 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atre... |
OMIM:306955 |
Chromosome 3Q13.31 Deletion Syndrome |
|
High palate, Alobar holoprosencephaly, High, narrow palate, Micropenis, Short philtrum, Decreased... |
OMIM:615433 |
Marden-Walker Syndrome |
|
Hydrocephalus, Cleft palate, Abnormality of the upper urinary tract, Radioulnar synostosis, Ventr... |
ORPHA:2461 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Small hand, Syndactyly, Narrow palm, Clinodactyly, Azoospermia, Abnormal heart... |
ORPHA:1445 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Trisomy 18 |
|
Cleft palate, Abnormality of the upper urinary tract, Anencephaly, Abnormality of the upper limb,... |
ORPHA:3380 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Br... |
OMIM:236500 |
Distal Tetrasomy 15Q |
|
Hydrocele testis, High palate, Hydrocephalus, Atrial septal defect, Flexion contracture, Arachnod... |
ORPHA:314588 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... |
OMIM:615297 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of ... |
OMIM:175700 |
Steinfeld Syndrome |
|
Unilateral renal dysplasia, Holoprosencephaly, Hypoplasia of the radius, Bifid uvula, Hypoplasia ... |
OMIM:184705 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Ventri... |
OMIM:614876 |
49,Xxxxy Syndrome |
|
Cleft palate, Down-sloping shoulders, Delayed eruption of teeth, Radioulnar synostosis, Carious t... |
ORPHA:96264 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Abnormality of the dentition, Abnormality of the ureter, Micromeli... |
ORPHA:289 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Anal atresia, Cryptorchidism, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Bifid to... |
OMIM:616300 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Renal cyst, Multinodular goiter, Bilateral triphalangeal thumbs, Prea... |
OMIM:138790 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Abnormality of the kidney, Micromelia, Br... |
ORPHA:93274 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Renal hypoplasia/aplasia, Microphthalmia, Hypo... |
ORPHA:2166 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Syndactyly, Neonatal death, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Renal c... |
OMIM:228940 |
Holoprosencephaly 11 |
|
Cleft palate, Holoprosencephaly, Cleft lip, Polysplenia, Agenesis of corpus callosum |
OMIM:614226 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Renal hypoplasia/aplasia, Adducted thumb, Holoprosencephaly, Camptod... |
ORPHA:2570 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Atrial septal defect, Nephritis, Flared iliac wing, Hepatomegaly, Splenomegal... |
OMIM:617303 |
8P Inverted Duplication/Deletion Syndrome |
|
Wide mouth, Clinodactyly of the 5th finger, High, narrow palate, Micropenis, Everted lower lip ve... |
ORPHA:96092 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
Jawad Syndrome |
|
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... |
OMIM:251255 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Hepatomegaly, Renal cyst, Colpocephaly, Epiphyseal stippling |
OMIM:614870 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholest... |
OMIM:617394 |
Meacham Syndrome |
|
Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Cardiac total anomalous pulmonary v... |
OMIM:608978 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Colonic d... |
OMIM:173900 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Talipes equinovarus, Microphthalmia |
OMIM:616570 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal cortical adeno... |
OMIM:145001 |
Mental retardation, x-linked, syndromic, Turner type |
|
Limited elbow extension, Macroorchidism, Tapered finger, Holoprosencephaly |
OMIM:300706 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangeal thumb, Multinodular goite... |
ORPHA:2091 |
Distal Trisomy 5Q |
|
Narrow mouth, Absent thumb, Hypoplasia of the radius, Hypospadias, Thin vermilion border, Brachyd... |
ORPHA:96097 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Abnormality of the dentition, Syndactyly, Brachydactyly, Polydactyly, ... |
OMIM:615982 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Bladder exstrophy, Cholestasis, Ventric... |
OMIM:301068 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Holzgreve Syndrome |
|
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal agenesis, Renal hypoplasia, Hand pol... |
OMIM:236110 |
Arima Syndrome |
|
Occipital meningocele, Wide mouth, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubuloi... |
OMIM:243910 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Hepatomegaly, Glycosuria, Neonatal death, Generalized aminoaciduria, Polycy... |
OMIM:231680 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Polycysti... |
ORPHA:53035 |
Mosaic Trisomy 1 |
|
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Ventricular septal defect, ... |
ORPHA:1692 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Bresek Syndrome |
|
Hydrocephalus, Cleft palate, Optic nerve hypoplasia, Hypoplasia of the bladder, Neonatal death, R... |
ORPHA:85284 |
Poland Syndrome |
|
Unilateral oligodactyly, Hypoplasia of latissimus dorsi muscle, Unilateral absence of pectoralis ... |
OMIM:173800 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Hiatus hernia, Splenomegaly, Buphthalmos, Long philtrum, Cholestasis, Pancreatic hy... |
OMIM:610199 |
Roberts Syndrome |
|
High palate, Cleft palate, Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar sy... |
ORPHA:3103 |
Monosomy 18P |
|
Tooth malposition, Cleft palate, Holoprosencephaly, Hypodontia, Short philtrum, Brachydactyly, Ca... |
ORPHA:1598 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Holoprosencephaly, Hypoplasia of the radius, Abnormality of the humerus... |
ORPHA:3186 |
Microform Holoprosencephaly |
|
Duodenal atresia, Hypoplasia of penis, Cleft palate, Holoprosencephaly, Renal agenesis, EMG: myop... |
ORPHA:280200 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Hydrocephalus, Hepatomegaly, Cleft palate, Broad alveolar ridges, Micromelia, Ve... |
OMIM:270400 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Brachydactyly, Tetralogy of Fallot, Camptodac... |
OMIM:136760 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
Meier-Gorlin Syndrome 7 |
|
High palate, Bowing of the legs, Anal atresia, 2-3 toe syndactyly, Atrial septal defect, Narrow m... |
OMIM:617063 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Smith-Lemli-Opitz Syndrome |
|
Wide mouth, Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Ulnar deviat... |
ORPHA:818 |
Chromosome 13Q14 Deletion Syndrome |
|
High palate, Overlapping toe, Clinodactyly of the 5th finger, Supernumerary nipple, Holoprosencep... |
OMIM:613884 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly, Short ti... |
OMIM:617925 |
Lambert Syndrome |
|
Wide mouth, Intrahepatic biliary atresia, Hypospadias, Cholestasis, Ventricular septal defect, Br... |
ORPHA:1296 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Chronic kidney disease, Hepato... |
OMIM:615630 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
16P13.11 Microdeletion Syndrome |
|
Cleft upper lip, Wide mouth, Atrial septal defect, Talipes equinovarus, Cleft palate, Holoprosenc... |
ORPHA:261236 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morpho... |
ORPHA:1335 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cleft palate, Holoprosencephaly, Radial club hand, Abnormal morphology of the radius, Renal insuf... |
ORPHA:2165 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Cleft palate, Micropenis, Micromelia, Anterior hypopituitarism, Renal dysplasia, P... |
OMIM:241800 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Ethylmalonic aciduria, Hepatomegaly, 3-Methylglutaric aciduria, Acute p... |
ORPHA:26791 |
Distal Monosomy 12Q |
|
Biliary atresia, Pyloric stenosis, Single transverse palmar crease, Broad hallux, Clinodactyly of... |
ORPHA:96149 |
Thomas Syndrome |
|
Cleft upper lip, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate, Multicystic kidn... |
ORPHA:3316 |
Dextrocardia |
|
Hydrocephalus, Intestinal malrotation, Abnormality of the ureter, Congenital hip dislocation, Abn... |
ORPHA:1666 |
Cranioectodermal Dysplasia 2 |
|
High palate, Hepatomegaly, Cleft palate, Microdontia, Cholestasis, Rhizomelia, Bile duct prolifer... |
OMIM:613610 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Polycystic kidney dysplasia, Bowing of the long bones, Polysplenia, Pan... |
OMIM:211890 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Johanson-Blizzard Syndrome |
|
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Anal atresia, Malabsorptio... |
ORPHA:2315 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis, Ventricular septal defec... |
OMIM:601355 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Narrow mouth, Hypoplasia of penis, Holoprosencephaly, Situs inversus totalis, Microglossia, Agene... |
ORPHA:990 |
Genitopalatocardiac Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Congenital diaphragmatic hernia, Cleft palate,... |
ORPHA:2075 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Median cleft palate, Microphthalmia |
ORPHA:2432 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Tooth agenesis, Congenital diaphragmatic hernia, Cleft palate, Abnormal... |
ORPHA:1166 |
Mucolipidosis Ii Alpha/Beta |
|
Wide mouth, Hepatomegaly, Bullet-shaped phalanges of the hand, Enlarged kidney, Varus deformity o... |
OMIM:252500 |
Acropectoral Syndrome |
|
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb |
OMIM:605967 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... |
ORPHA:3032 |
Agnathia-Otocephaly Complex |
|
Narrow mouth, Secundum atrial septal defect, Cleft palate, Holoprosencephaly, Situs inversus tota... |
OMIM:202650 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Broad hallux phalanx, ... |
ORPHA:380 |
Diaphanospondylodysostosis |
|
Talipes equinovarus, Nephrogenic rest, Cleft palate, Abnormal liver lobulation, Cystic renal dysp... |
OMIM:608022 |
Poland Syndrome |
|
Cone-shaped epiphysis, Abnormality of the humerus, Encephalocele, Abnormality of the hand, Aplasi... |
ORPHA:2911 |
Roberts-Sc Phocomelia Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Long penis, Ventricular septal defect, Biliary tract ab... |
OMIM:268300 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Cleft palate, Hypospadias, Ventricular septal def... |
OMIM:231060 |
Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly |
ORPHA:64754 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Hydranencephaly, Holoprosencephaly |
OMIM:617967 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kid... |
ORPHA:2538 |
Orofaciodigital Syndrome Type 6 |
|
High palate, Renal hypoplasia/aplasia, Cleft palate, Preaxial polydactyly, Renal agenesis, Finger... |
ORPHA:2754 |
Microhydranencephaly, X-Linked |
|
Multiple joint contractures, Holoprosencephaly |
OMIM:306990 |
Rhyns Syndrome |
|
Nephronophthisis, Hypoplastic ilia, Multicystic kidney dysplasia, Abnormal long bone morphology, ... |
ORPHA:140976 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Tracheoesophageal fistula, Ventricular septal defect, Umbilical hernia, Anal atres... |
OMIM:107480 |
Lambotte Syndrome |
|
Ventricular septal defect, Narrow mouth, Preaxial foot polydactyly, Semilobar holoprosencephaly |
OMIM:245552 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Clinodactyly, Microphthalmia |
OMIM:610023 |
Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Wide mouth, Hydrocephalus, Short sternum, Hepatomegaly, Hepatoblastoma, Cleft palate, 2-3 finger ... |
OMIM:312870 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2nd finger, Cleft p... |
ORPHA:1388 |
Holoprosencephaly |
|
Hydrocephalus, Ventricular septal defect, Median cleft lip and palate, Solitary median maxillary ... |
ORPHA:2162 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly |
OMIM:615984 |
Caroli Syndrome |
|
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Cirrhosis, Abnormality of the ki... |
ORPHA:480520 |
Polydactyly, Preaxial I |
|
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... |
OMIM:174400 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Micrope... |
OMIM:300209 |
Femoral-Facial Syndrome |
|
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Ventricular septal defect, Short fi... |
OMIM:134780 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Microphthalmia... |
ORPHA:1617 |
Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Anencephaly, Abnorma... |
ORPHA:887 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Cholelithiasis, Hydrocephalus, Cleft palate, Abnormality of the dentition, Sho... |
ORPHA:567 |
Alg9-Cdg |
|
Wide mouth, Hepatomegaly, Hypoplasia of the bladder, Enlarged kidney, Ventricular septal defect, ... |
ORPHA:79328 |
Orofaciodigital Syndrome Vi |
|
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... |
OMIM:277170 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Velopharyngeal insufficiency, Clef... |
OMIM:614701 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Long hallux, Tibial bowing, Talipes equinovarus, Macroglossia, Multicystic kidney dysplasia, Neph... |
ORPHA:500095 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Absent thumb, Hypoplasia of the radius, Biliary tract abnormality, Hyp... |
OMIM:156810 |
Vissers-Bodmer Syndrome |
|
Tapered finger, Holoprosencephaly |
OMIM:619033 |
Joubert Syndrome 39 |
|
Hypoplastic left heart, Postaxial polydactyly, Joint contracture of the 5th finger, Polycystic ki... |
OMIM:619562 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... |
ORPHA:1909 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Renal hypoplasia/aplasia, Cleft palate, Micr... |
ORPHA:1926 |
Chromosome 15Q25 Deletion Syndrome |
|
Cleft upper lip, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Cleft palat... |
OMIM:614294 |
Trisomy 4P |
|
Radial club hand, Camptodactyly of finger, Hypospadias, Abnormality of the dentition, Carious tee... |
ORPHA:1738 |
Nephrotic Syndrome, Type 11 |
|
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... |
OMIM:616730 |
Pierpont Syndrome |
|
Short toe, Cryptorchidism, Prominent fingertip pads, Micropenis, Prominent median palatal raphe, ... |
OMIM:602342 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Postaxial pol... |
OMIM:616546 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Nephroblastoma, Syndactyly, Polydactyly, Ventricular septal defect, Microphthalmia... |
OMIM:602501 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Coach Syndrome 1 |
|
Wide mouth, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, Unilateral renal a... |
OMIM:216360 |
Cousin Syndrome |
|
Hydrocephalus, Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Microphthalmia, ... |
OMIM:260660 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Decreased liver function, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic... |
OMIM:602347 |
Trisomy 1Q |
|
Anal atresia, Hydrocephalus, Narrow mouth, Congenital diaphragmatic hernia, Cleft palate, Congeni... |
ORPHA:261344 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... |
OMIM:600803 |
Trisomy 13 |
|
Ectrodactyly, Atrial septal defect, High, narrow palate, Cleft palate, Abnormality of the dentiti... |
ORPHA:3378 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ... |
OMIM:147250 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
High palate, Supernumerary nipple, Micropenis, Atrioventricular canal defect, Short philtrum, Lon... |
OMIM:618929 |
Holoprosencephaly 9 |
|
Hydrocephalus, Cleft palate, Short philtrum, Solitary median maxillary central incisor, Microphth... |
OMIM:610829 |
Pallister-Hall Syndrome |
|
Cleft palate, Atrioventricular canal defect, Ventricular septal defect, Thyroid hypoplasia, Umbil... |
ORPHA:672 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Accessory oral frenulum, Prea... |
ORPHA:2756 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Ventricular septal defect, G... |
OMIM:201000 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Micropenis, Partial duplication of thumb phalanx, Short middle phalanx of th... |
OMIM:617926 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency |
OMIM:615993 |
Jacobsen Syndrome |
|
Annular pancreas, U-Shaped upper lip vermilion, Hydrocephalus, Clinodactyly of the 5th finger, At... |
OMIM:147791 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Microphthalmia |
OMIM:614830 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminot... |
OMIM:619534 |
Verheij Syndrome |
|
Abnormal cardiac septum morphology, Renal agenesis, Short 5th finger, Long philtrum, Renal cyst, ... |
OMIM:615583 |
Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the uppe... |
ORPHA:1106 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Patent urachus, Unilateral cryptorchidism, Hepatopulm... |
OMIM:618280 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... |
OMIM:619980 |
Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Aplasia of the bladder, High palate, Narrow palate, Congenital diaphragmatic herni... |
OMIM:200980 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Aganglionic megacolon, Cleft palate, Oral cleft, Dextrocardia, Hand polydactyly, E... |
ORPHA:220493 |
1Q41Q42 Microdeletion Syndrome |
|
Talipes equinovarus, Congenital diaphragmatic hernia, Cleft palate, Holoprosencephaly, Thick verm... |
ORPHA:250999 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Multicystic kidney dysplasia... |
ORPHA:261197 |
Tetrasomy 9P |
|
High palate, Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Hydrocephalus,... |
ORPHA:3310 |
Galloway-Mowat Syndrome 7 |
|
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... |
OMIM:618348 |
Joubert Syndrome 14 |
|
Hydrocephalus, Postaxial polydactyly, Open mouth, Short philtrum, Renal cyst, Tented upper lip ve... |
OMIM:614424 |
Carpenter Syndrome |
|
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... |
ORPHA:65759 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Brachydactyly, Long philtru... |
ORPHA:401935 |
Phelan-Mcdermid Syndrome |
|
High palate, Dental malocclusion, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Abnormality... |
OMIM:606232 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Anencephaly, Delayed er... |
OMIM:619148 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Oral cleft, Large hands, Decreased testicular size, Cryptorchidism, Preaxial han... |
ORPHA:85287 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Myelomeningocele |
OMIM:613686 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia affecting the eye, Wide mouth, Ectopic anus, Distal urethral duplication, Rena... |
ORPHA:2549 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
Cat Eye Syndrome |
|
Tricuspid atresia, Cleft palate, Biliary atresia, Ventricular septal defect, Horseshoe kidney, Um... |
OMIM:115470 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis,... |
ORPHA:251076 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Cleft palate, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly,... |
OMIM:614120 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Colitis, Atrial septal defect, Hepatomegaly, Hepatoblastoma, Splenomegaly,... |
ORPHA:84064 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Micropenis, Muscular dystrophy, Anencephaly, Renal dysplasia, Renal cyst, Hydronep... |
OMIM:615287 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... |
OMIM:619662 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal... |
OMIM:300863 |
3Mc Syndrome 3 |
|
Cleft upper lip, Diastasis recti, Cleft palate, Micropenis, Preaxial polydactyly, Radioulnar syno... |
OMIM:248340 |
Moebius Syndrome |
|
High palate, Facial diplegia, Talipes equinovarus, Microphthalmia, Micropenis, Abnormality of the... |
OMIM:157900 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Flexion contracture, Holoprosencephaly,... |
OMIM:253800 |
Joubert Syndrome 16 |
|
Renal cyst, Encephalocele, Polydactyly, Nephronophthisis |
OMIM:614465 |
Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Death in childhood, Ventricular septal defect, Elevated circulating alanine aminotransferase conc... |
OMIM:613759 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Brachydactyly, Syndactyly, Ventricular septal defect, Renal hypoplasia, Hepatic fib... |
OMIM:616589 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Aplas... |
ORPHA:2476 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Renal tubular acidosis, Hepatomegaly, Renal dysplasia, Renal cyst, Rena... |
OMIM:614922 |
D-Bifunctional Protein Deficiency |
|
High palate, Talipes equinovarus, Hepatomegaly, Splenomegaly, Long philtrum, Cholestasis, Hammert... |
OMIM:261515 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Cleft palate, Short philtrum, Ventricular septal defect, Single transverse palmar... |
ORPHA:464738 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, Frontal encephalocele |
ORPHA:1528 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Micromelia, Hypopla... |
OMIM:200995 |
H Syndrome |
|
Cleft upper lip, Hydrocephalus, Malabsorption, Gingival overgrowth, Micropenis, Abnormality of th... |
ORPHA:168569 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Narrow mouth, Ventricular septal defect, Posta... |
ORPHA:83473 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Right ventricular hype... |
OMIM:613404 |
Floating-Harbor Syndrome |
|
Wide mouth, Celiac disease, Short philtrum, Microdontia, Broad fingertip, Carious teeth, Humeral ... |
ORPHA:2044 |
Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia, Absent outer dynein arms |
OMIM:615067 |
Faciothoracogenital Syndrome |
|
Glandular hypospadias, Long philtrum, Microphthalmia, Thin upper lip vermilion, Smooth philtrum |
OMIM:227320 |
Acrocallosal Syndrome |
|
High palate, Abnormal cardiac septum morphology, Wide mouth, Triangular mouth, Cleft palate, Shor... |
OMIM:200990 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Microphthalmia |
OMIM:218670 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Proximal muscle weakness in lower limbs, Death in childhood, Spinal muscula... |
OMIM:253300 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Anophtha... |
OMIM:206920 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... |
ORPHA:2712 |
Halperin-Birk Syndrome |
|
High palate, Talipes equinovarus, Congenital diaphragmatic hernia, Flexion contracture, Death in ... |
OMIM:618651 |
Hydrolethalus |
|
Hydrocephalus, Cleft palate, Gingival cleft, Micromelia, Anencephaly, Arrhinencephaly, Anophthalm... |
ORPHA:2189 |
Kaposiform Lymphangiomatosis |
|
Abnormality of femur morphology, Pancreatic cysts, Splenomegaly, Fractures of the long bones, Abn... |
ORPHA:464329 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... |
ORPHA:79302 |
Ogden Syndrome |
|
Hydrocele testis, High palate, Abnormality of the dentition, Short philtrum, Congenital hip dislo... |
OMIM:300855 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Decreased response to growth hormone stimulation test, Absent thumb, Hypopl... |
OMIM:609053 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Multicystic kidney dysplasia, Occipital encephalocele, Talipes equinovarus |
OMIM:614209 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect |
OMIM:606217 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... |
OMIM:300166 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Hydrocephalus, Aortic valve stenosis, Atrial septal ... |
OMIM:220210 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Horseshoe kidney, Polydactyly, Camptodactyly |
OMIM:614815 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the h... |
ORPHA:2256 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Hydrocephalus, Absent tibia, Absent radius, Preaxial hand polydactyly,... |
ORPHA:2378 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Supernumerary tooth, Cleft palate, Postaxial polydactyly, Holoprosencephaly... |
OMIM:615948 |
Alagille Syndrome 2 |
|
Cholestatic liver disease, Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hemat... |
OMIM:610205 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Talipes equinovarus, Hepatomegaly, Cleft palate, Splenomegaly, Hepatosplenomegaly, Intrahepatic b... |
OMIM:614866 |
Feingold Syndrome 2 |
|
3-4 toe syndactyly, 2-3 toe syndactyly, Intestinal atresia, Short middle phalanx of the 2nd finge... |
OMIM:614326 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
High palate, Ketonuria, Hepatomegaly, Single transverse palmar crease, Renal hypoplasia, Micropht... |
OMIM:619053 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Myopathy, Holoprosencephaly |
ORPHA:588 |
Isolated Biliary Atresia |
|
Decreased liver function, Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cir... |
ORPHA:30391 |
Mosaic Variegated Aneuploidy Syndrome |
|
Duodenal atresia, Clinodactyly of the 5th finger, Atrial septal defect, Cleft palate, Holoprosenc... |
ORPHA:1052 |
Pierpont Syndrome |
|
Short toe, Long upper lip, Prominent fingertip pads, Everted lower lip vermilion, Thin vermilion ... |
ORPHA:487825 |
Iniencephaly |
|
Myelomeningocele, Anal atresia, Hydrocephalus, Narrow mouth, Talipes equinovarus, Duodenal atresi... |
ORPHA:63259 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cleft palate, Congenital hip dislocation, Anophthalmia, Microphthalmia, Cr... |
OMIM:164180 |
Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Abnormality of the dentition, Ventricular septal defect, Hypo... |
ORPHA:2092 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Atrial septal defect, Renal tubular acidosis, Aminoaciduria, Right ventricu... |
OMIM:208085 |
Feingold Syndrome Type 2 |
|
Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short ... |
ORPHA:391646 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Adducted thumb, Holoprosencephaly, Agenesis of corpus callosum |
ORPHA:2182 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... |
OMIM:186350 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... |
OMIM:613751 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger, Brachydac... |
ORPHA:1937 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia, Congenital pseudoarthrosis of the clavicle |
ORPHA:66630 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormality of the dentition, Multicystic kidney dysplasia, Carious teeth, Radioulnar synostosis,... |
ORPHA:3270 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Microphthalmia |
ORPHA:324416 |
Campomelia, Cumming Type |
|
Aplasia/Hypoplasia affecting the eye, Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, B... |
ORPHA:1318 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Long philtrum, Ventricu... |
ORPHA:261120 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Short philtrum, Ventricular septal defect, Downturned corners of mouth, Rhizomelia, Abnormal epip... |
ORPHA:93267 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Atrial septal defect, Hepatomegaly, Postaxial polydactyly, Unilateral renal agenes... |
OMIM:614576 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus, Nephrotic syndrome, Atrial septal defect, Macroglossia, Flexion contracture, Deep ... |
ORPHA:505248 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Interphalangeal joint contracture of finger, Long philtrum, Knee flexion contracture, Thin upper ... |
OMIM:606242 |
Congenital Varicella Syndrome |
|
Micromelia, Microphthalmia |
ORPHA:291 |
Suleiman-El-Hattab Syndrome |
|
High palate, Wide mouth, Atrial septal defect, Brachydactyly, Polydactyly, Long philtrum, Ventric... |
OMIM:618950 |
Charge Syndrome |
|
Cleft palate, Tracheoesophageal fistula, Down-sloping shoulders, Ventricular septal defect, Hypop... |
OMIM:214800 |
Prune Belly Syndrome |
|
Abnormality of the ureter, Congenital hip dislocation, Aplasia of the abdominal wall musculature,... |
ORPHA:2970 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms |
OMIM:618063 |
Limb Body Wall Complex |
|
Hydrocephalus, Cleft palate, Aplasia of the proximal phalanges of the hand, Anencephaly, Ventricu... |
ORPHA:2369 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Cleft palate, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphr... |
ORPHA:2257 |
Mckusick-Kaufman Syndrome |
|
High palate, Cleft palate, Ventricular septal defect, Ectopic anus, Anal atresia, Tetralogy of Fa... |
ORPHA:2473 |
Vater/Vacterl Association |
|
Hypoplasia of the radius, Tracheoesophageal fistula, Radioulnar synostosis, Ventricular septal de... |
OMIM:192350 |
Xk Aprosencephaly Syndrome |
|
Anal atresia, Narrow mouth, Atrial septal defect, Abnormal morphology of the radius, Ventricular ... |
ORPHA:3469 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Hematuria, Cleft palate, Microphthalmia |
OMIM:120433 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Hepatomegaly, Elevated hepatic transaminase, Microphthalmia, Jaundice, Cardiomegaly |
ORPHA:858 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Renal Tubular Dysgenesis |
|
Nephropathy, Bilateral single transverse palmar creases, Multiple renal cysts, Tetralogy of Fallo... |
ORPHA:3033 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Pancreatic fibrosi... |
OMIM:615503 |
15q26 overgrowth syndrome |
|
High palate, Abnormality of finger, Abnormality of toe, Arachnodactyly, Renal agenesis, Camptodac... |
DECIPHER:81 |
Hydrolethalus Syndrome 1 |
|
Cleft palate, Anencephaly, Upper limb undergrowth, Ventricular septal defect, Microphthalmia, Tal... |
OMIM:236680 |
Cat-Eye Syndrome |
|
Anal atresia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Micropht... |
ORPHA:195 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Abnormality of the ureter, Bilateral single transverse pa... |
ORPHA:1770 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Orofaciodigital Syndrome V |
|
High palate, Aganglionic megacolon, Hypodontia, Cleft palate, Postaxial polydactyly, Unilateral c... |
OMIM:174300 |
Isolated Polycystic Liver Disease |
|
Polycystic liver disease, Hepatomegaly, Multiple renal cysts, Abnormality of the pancreas |
ORPHA:2924 |
Joubert Syndrome 7 |
|
Nephronophthisis, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Renal cyst, Enc... |
OMIM:611560 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... |
OMIM:618719 |
Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Duodenal atresia, Alobar holoprosencephaly, Hypoplastic left heart... |
OMIM:301043 |
Fryns Syndrome |
|
Wide mouth, Prominent fingertip pads, Cleft palate, Ventricular septal defect, Single transverse ... |
OMIM:229850 |
3P25.3 Microdeletion Syndrome |
|
Cleft palate, 2-3 finger syndactyly, Short philtrum, Tapered finger, Ventricular septal defect, B... |
ORPHA:435638 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Cryptorchidism, Clinodactyly of the 5th finger, Umbilical hernia |
ORPHA:1918 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Clinodactyly of the 5th finger, T... |
ORPHA:250989 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
High palate, Holoprosencephaly, Pancreatic aplasia, Absent gallbladder, Aplasia/Hypoplasia of the... |
ORPHA:556955 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Short distal phalanx of finger, Increased urine alpha-ketoglutarate concentration, High palate, C... |
OMIM:220500 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Atrial septal defect, Cleft palate, Unilateral... |
OMIM:608572 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst |
OMIM:174050 |
Pelvis-Shoulder Dysplasia |
|
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Sp... |
OMIM:169550 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Narrow pelvis bone, Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Cleft palate, Absent proximal finger flexion creases, Talipes equinovarus, Aplasia... |
ORPHA:2839 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
3C Syndrome |
|
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Ven... |
ORPHA:7 |
Teebi-Shaltout Syndrome |
|
Wide mouth, Cleft palate, Ventricular septal defect, Single transverse palmar crease, Horseshoe k... |
OMIM:272950 |
Kapur-Toriello Syndrome |
|
Cleft upper lip, Atrial septal defect, Joint contracture of the hand, Microphthalmia, Micropenis,... |
OMIM:244300 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hypo... |
ORPHA:163966 |
Holoprosencephaly 3 |
|
Cleft palate, Holoprosencephaly, Bifid uvula, Cleft lip, Solitary median maxillary central inciso... |
OMIM:142945 |
Tyrosinemia, Type I |
|
Paralytic ileus, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failure, H... |
OMIM:276700 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... |
ORPHA:1120 |
Mend Syndrome |
|
Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long fingers |
OMIM:300960 |
Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis, Hepatic failure |
OMIM:614845 |
Hadziselimovic Syndrome |
|
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... |
OMIM:612946 |
Holoprosencephaly 7 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Panhypopituitarism, Partial agenesis ... |
OMIM:610828 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth, High axial triradius |
OMIM:270460 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Joint contracture of the 4th finger, Pulmonic stenosis, Small thenar eminence... |
OMIM:618914 |
Charge Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Delayed eruption of ... |
ORPHA:138 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Intrahepatic bile duct dilatation, Postaxial polyd... |
OMIM:618955 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... |
OMIM:232200 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Gingival overgrowth, Clinodactyly of the 5th finger, Atrial septal... |
OMIM:179613 |
Fryns Syndrome |
|
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Tented upper lip vermi... |
ORPHA:2059 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Cleft palate, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney d... |
ORPHA:2237 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Cleft palate, Postaxial polydactyly, Intestinal malrotation, Broad distal pha... |
ORPHA:404440 |
Joubert Syndrome 22 |
|
2-3 toe syndactyly, Postaxial hand polydactyly, Renal hypoplasia, Postaxial foot polydactyly, Mic... |
OMIM:615665 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Orofaciodigital Syndrome Xv |
|
Postaxial polydactyly, Lobulated tongue, Broad hallux, Hydronephrosis, Agenesis of corpus callosum |
OMIM:617127 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular se... |
OMIM:249670 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Ventricular septal defect, Open mouth, Cryptorchi... |
OMIM:616816 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect... |
OMIM:615524 |
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate, Preaxial hand polydactyly |
OMIM:601420 |
Say Syndrome |
|
Short distal phalanx of finger, Cleft palate, Ulnar deviation of the 3rd finger, Proximal renal t... |
OMIM:181180 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Hydrocephalus, Renal hypoplasia/aplasia, Gingival overgrowth, Congenital diaphragma... |
ORPHA:1834 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Micropenis, Syndactyly, Type B brachydactyly, Aplasia/Hypoplasia o... |
OMIM:113000 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... |
ORPHA:1354 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Narrow mouth, Duodenal atresia, Ankle flexion contracture, Unilatera... |
ORPHA:468631 |
Carpenter Syndrome 2 |
|
High palate, Carious teeth, Single transverse palmar crease, Umbilical hernia, Bilateral cryptorc... |
OMIM:614976 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Clinodactyly of the 5th finger, Ventricular septal defect, Deep philtr... |
OMIM:619717 |
C Syndrome |
|
High palate, Dislocated radial head, Wide mouth, Accessory oral frenulum, Renal cortical cysts, H... |
OMIM:211750 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Ureteral obstruction, Hematuria, Renal inte... |
ORPHA:449395 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia, Abnormal respiratory motile cilium morphology |
OMIM:614679 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, High palate, Abnormality of the tongue, Cleft palate, Pulmonic st... |
ORPHA:3098 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Exocrine pancreatic insufficiency, Atrioventricular canal defect, Ventricular sept... |
ORPHA:508498 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Diastasis recti, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Macroglossi... |
OMIM:130650 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Hypoplasia of the femoral head, Polydactyly, Cholestasis, Tubulointerstitial ne... |
OMIM:616629 |
Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme... |
OMIM:218530 |
Curry-Jones Syndrome |
|
Abnormality of thumb phalanx, Preaxial hand polydactyly, Broad thumb, Microphthalmia, Foot polyda... |
ORPHA:1553 |
Joubert Syndrome 37 |
|
High palate, Hepatomegaly, Microphthalmia, Micropenis, Postaxial polydactyly, Decreased testicula... |
OMIM:619185 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Hypospadias, Cutaneous synd... |
OMIM:618316 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Aort... |
OMIM:619895 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis, Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Camp... |
ORPHA:2547 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... |
OMIM:203700 |
Adams-Oliver Syndrome |
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Abnormal pulmonary valve morphology, Short distal phalanx of finger, Hydrocephalus, Absent hand, ... |
ORPHA:974 |
Heterotaxy, Visceral, 6, Autosomal |
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Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
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Hip dislocation, Bilateral microphthalmos |
OMIM:608763 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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High palate, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Microphthalmia, ... |
OMIM:609945 |
Ciliary Dyskinesia, Primary, 37 |
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Situs inversus totalis, Dextrocardia, Goiter |
OMIM:617577 |
Codas Syndrome |
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Hydroureter, Congenital hip dislocation, Brachydactyly, Delayed eruption of teeth, Ventricular se... |
ORPHA:1458 |
Roifman Syndrome |
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Hip contracture, Short toe, Clinodactyly of the 5th finger, Hepatomegaly, Splenomegaly, Brachydac... |
OMIM:616651 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Agenesis of corpus callosum, Uraciluria, Microphthalmia |
OMIM:274270 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Clinodactyly of the 5th finger, Glossoptosis, Multicystic kidney dysplasia, Congenital hepatic fi... |
ORPHA:2031 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Decreased liver function, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, 3-Meth... |
OMIM:618329 |
Microcephaly-Cardiomyopathy Syndrome |
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Clinodactyly of the 5th finger, High, narrow palate, Ventricular septal defect, Dilated cardiomyo... |
ORPHA:2515 |
Mohr Syndrome |
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High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Partial duplication o... |
OMIM:252100 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Abnormal cardiac septum morphology, Wide mouth, Clinodactyly of the 5th finger, Supernumerary nip... |
OMIM:618454 |
Ciliary Dyskinesia, Primary, 30 |
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Situs inversus totalis, Dextrocardia, Absent outer dynein arms |
OMIM:616037 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
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Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot |
OMIM:601348 |
Ciliary Dyskinesia, Primary, 25 |
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Situs inversus totalis, Dextrocardia |
OMIM:615482 |
Congenital Rubella Syndrome |
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Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Microphthalmia, Abno... |
ORPHA:290 |
Cystic Echinococcosis |
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Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Abnormalit... |
ORPHA:400 |
Baraitser-Winter Syndrome 1 |
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Cleft upper lip, Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Long philt... |
OMIM:243310 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism |
OMIM:613730 |
8Q12 Microduplication Syndrome |
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Narrow mouth, Atrial septal defect, Everted lower lip vermilion, Long philtrum, Ventricular septa... |
ORPHA:228399 |
Beckwith-Wiedemann Syndrome |
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Wide mouth, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Enlarg... |
ORPHA:116 |
Chromosome 16P13.3 Duplication Syndrome |
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Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Long fingers, Ventricul... |
OMIM:613458 |
Encephalocraniocutaneous Lipomatosis |
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Hydrocephalus, Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Hypo... |
OMIM:613001 |
Microphthalmia, Syndromic 8 |
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Cleft upper lip, Cleft palate, Split foot, Oral cleft, Widely-spaced maxillary central incisors, ... |
OMIM:601349 |
Autosomal Recessive Robinow Syndrome |
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Wide mouth, Abnormality of the dentition, Short philtrum, Ventricular septal defect, Sandal gap, ... |
ORPHA:1507 |
Mckusick-Kaufman Syndrome |
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Anal atresia, Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydroureter, Congenital hip disl... |
OMIM:236700 |
Seckel Syndrome 2 |
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Clinodactyly of the 5th finger, Hypospadias, Microdontia, Ectopic kidney, Microphthalmia, Microgl... |
OMIM:606744 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Drumstick terminal phalanges, Alveolar ridge overgrowth, Hydrocephalus, Cleft palate, Thin vermil... |
OMIM:612938 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Tibial Hemimelia |
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