| Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands, Swollen lip |
OMIM:619363 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, ... |
OMIM:601186 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Intestinal malrotation, Long philtrum, Pulmonary artery atresia, Ventricula... |
ORPHA:401935 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Gastroesophageal reflux, Secundum atrial septal defect, Bicornuate ute... |
OMIM:156810 |
| Adrenal Hypoplasia, Cytomegalic Type |
|
Primary adrenal insufficiency, Congenital adrenal hypoplasia |
OMIM:202155 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Anencephaly, Abnorma... |
ORPHA:887 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Short neck, Pulmonary hypoplasia, Omphalocele, Short long bone, Flexion contracture, Narrow great... |
OMIM:263210 |
| Mosaic Trisomy 9 |
|
High palate, Cleft palate, Abnormal liver lobulation, Short neck, Finger clinodactyly, Micromelia... |
ORPHA:99776 |
| Angioedema, Hereditary, 5 |
|
Angioedema, Facial edema, Edema of the dorsum of hands, Swollen lip |
OMIM:619361 |
| Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Pulmonary venous occlusion, Unilater... |
ORPHA:2260 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Microretrognathia, Cutan... |
OMIM:236500 |
| Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Tracheoesophageal fistula, Hypospadias, Coarctation of aorta, H... |
ORPHA:1923 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... |
OMIM:265380 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Hiatus hernia, Tracheoesophageal fistula, Horseshoe kidney, Perineal fistula, Anal ... |
ORPHA:2538 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
| Non-Syndromic Posterior Hypospadias |
|
Anal atresia, Abnormality of the endocrine system, Congenital diaphragmatic hernia, Cleft palate,... |
ORPHA:95706 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Abnormal pinna morphology, Absence of renal corticomedullary differentiation, Ambiguous genitalia... |
OMIM:617641 |
| Axial Mesodermal Dysplasia Spectrum |
|
Tracheoesophageal fistula, Abnormality of the ureter, Short neck, Omphalocele, Anorectal anomaly,... |
ORPHA:1834 |
| Fanconi Anemia, Complementation Group B |
|
Duodenal atresia, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Renal ag... |
OMIM:300514 |
| Rhyns Syndrome |
|
Nephronophthisis, Hypoplastic ilia, Osteopenia, Multicystic kidney dysplasia, Hypopituitarism, Ab... |
ORPHA:140976 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology, Multiple renal cysts, Te... |
ORPHA:1190 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... |
ORPHA:3032 |
| Serkal Syndrome |
|
Sex reversal, Congenital diaphragmatic hernia, Abnormal penis morphology, Hypospadias, Abnormalit... |
ORPHA:139466 |
| Emanuel Syndrome |
|
High palate, Cleft palate, Ventricular septal defect, Anal atresia, Long philtrum, Patent ductus ... |
OMIM:609029 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal hypoplasia/aplasia, High, narrow palate, Cleft palate, Renal agenesis, Abnormal lung lobati... |
ORPHA:2516 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Joint stiffness, Protruding ear, Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Cleft... |
ORPHA:1166 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Oligohydramnios, Cystic renal dysplasia, ... |
OMIM:615415 |
| Feingold Syndrome 1 |
|
Annular pancreas, High palate, Duodenal atresia, Short palpebral fissure, Everted lower lip vermi... |
OMIM:164280 |
| Angioedema, Hereditary, 8 |
|
Facial edema, Edema of the dorsum of hands, Angioedema, Laryngeal edema, Swollen lip |
OMIM:619367 |
| Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Delayed eruption of teeth, Ventricular se... |
ORPHA:96170 |
| Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Abnormality of the abdominal wall, Duodenal atresia, Joint contracture... |
OMIM:247200 |
| Branchiootorenal Syndrome 1 |
|
High palate, Cleft palate, Branchial fistula, Congenital hip dislocation, Renal steatosis, Euthyr... |
OMIM:113650 |
| Fryns Syndrome |
|
Wide mouth, Cleft palate, Facial hirsutism, Ventricular septal defect, Pulmonary hypoplasia, Tent... |
OMIM:229850 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Low-set ears, Overlapping toe, Gastroesophageal reflux, Joint hypermobility, Cleft palate, High, ... |
OMIM:618494 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibrosis, Esophageal varix, Po... |
OMIM:616589 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Low-set ears, Micropenis, Renal agenesis, Hypospadias, Microtia, Craniosynostosis, Micrognathia, ... |
ORPHA:171839 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased proportion of... |
OMIM:611926 |
| Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Horseshoe kidney, Pancytopenia, Bone m... |
OMIM:227646 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Micropenis, Unilateral renal agenesis, Postaxial polydactyly, Preax... |
OMIM:618142 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ventricular septal defect, Omphalocele, Colonic atresia, Jejunal atresia, Recurrent... |
OMIM:243150 |
| Fanconi Anemia, Complementation Group F |
|
Duodenal atresia, Atrial septal defect, Decreased response to growth hormone stimulation test, An... |
OMIM:603467 |
| Cornelia De Lange Syndrome 1 |
|
High palate, Malrotation of colon, Hiatus hernia, Short sternum, Cleft palate, Otitis media, Hypo... |
OMIM:122470 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Rectal prolapse, Horseshoe kidney, Pericardial lymphangiectasia, Umbil... |
OMIM:235510 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Oral mucosal blisters, Ectropion, Congenital pyloric atresia, Enamel hypoplasia, Polyhydramnios, ... |
OMIM:226730 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft pa... |
ORPHA:3426 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Protruding ear, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of t... |
ORPHA:2256 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Postaxial polydactyly, Hip dysp... |
OMIM:614576 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
High palate, Double outlet right ventricle, Laryngomalacia, Anomalous pulmonary venous return, At... |
OMIM:619657 |
| Esophageal Atresia |
|
Cleft palate, Abnormal external genitalia, Tracheoesophageal fistula, Pyloric stenosis, Ventricul... |
ORPHA:1199 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Lipoma, Atrial septal defect, Alopecia, Limbal dermoid, Mul... |
OMIM:613001 |
| Thymic Aplasia With Fetal Death |
|
Abnormality of the endocrine system, Renal agenesis, Ureteral agenesis, Pulmonary hypoplasia, Tru... |
OMIM:274210 |
| Fraser Syndrome |
|
High palate, Ambiguous genitalia, Pulmonary hypoplasia, Umbilical hernia, Omphalocele, Encephaloc... |
ORPHA:2052 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
| Jeune Syndrome |
|
Nephronophthisis, Cone-shaped epiphysis, Nephropathy, Brachydactyly, Micromelia, Postaxial hand p... |
ORPHA:474 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Labial hypoplasia, Bicornuate uterus... |
OMIM:300707 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome |
OMIM:103900 |
| Pallister-Hall Syndrome |
|
Cleft palate, Decreased circulating cortisol level, Y-shaped metacarpals, Anteriorly placed anus,... |
OMIM:146510 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Meckel Syndrome, Type 1 |
|
Ambiguous genitalia, female, External genital hypoplasia, Cleft palate, Abnormality of the ureter... |
OMIM:249000 |
| Carey-Fineman-Ziter Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Thin vermilion border,... |
ORPHA:1358 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Precocious ... |
ORPHA:3306 |
| Fraser Syndrome 1 |
|
Cleft palate, Pulmonary hypoplasia, Abnormality of the thymus, Clitoral hypertrophy, Encephalocel... |
OMIM:219000 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Osteopenia, Short neck, Rhizomelia, Intrauterine growth retardation, T... |
OMIM:611209 |
| Sweeney-Cox Syndrome |
|
High palate, Low-set ears, Wide anterior fontanel, Short clavicles, Anal atresia, Gastroesophagea... |
OMIM:617746 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Marden-Walker Syndrome |
|
High palate, Cleft palate, Short neck, Radioulnar synostosis, Pyloric stenosis, Pulmonary hypopla... |
OMIM:248700 |
| Meier-Gorlin Syndrome 8 |
|
Microtia, Micrognathia, Renal hypoplasia, Low-set ears, Bilateral cryptorchidism, Intrauterine gr... |
OMIM:617564 |
| Feingold Syndrome |
|
Annular pancreas, Duodenal atresia, Short palpebral fissure, Abnormality of the spleen, Oral clef... |
ORPHA:1305 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
| Schizophrenia 1 |
|
Partially duplicated kidney, Short proximal phalanx of the 4th toe, Protruding ear, Renal agenesi... |
OMIM:181510 |
| Caudal Regression Syndrome |
|
Joint stiffness, Anal atresia, Abnormal iliac wing morphology, Talipes equinovarus, Renal agenesi... |
ORPHA:3027 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
| Diamond-Blackfan Anemia 10 |
|
Conductive hearing impairment, Steroid-responsive anemia, Congenital diaphragmatic hernia, Cleft ... |
OMIM:613309 |
| Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Hypertrichosis, Muscular ventricular septal defect, Unilateral renal agenesis, ... |
OMIM:619227 |
| Czeizel-Losonci Syndrome |
|
High palate, Tracheoesophageal fistula, 2-3 finger syndactyly, Pulmonary hypoplasia, 1-2 finger s... |
ORPHA:2437 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Protruding ear, Talipes equinovarus, Cutis laxa, Adducted thumb, Unilateral renal agenesis, Osteo... |
OMIM:616603 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Chronic active hepatitis, Decreased ci... |
OMIM:240300 |
| Short-Rib Thoracic Dysplasia 12 |
|
Abnormal pinna morphology, Hepatomegaly, Short neck, Anencephaly, Lobulated tongue, Ambiguous gen... |
OMIM:269860 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Cleft soft palate, Downslanted palpebral fissures, Esophageal atresia, Smoo... |
OMIM:614526 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Anal atresia, Duodenal atresia, Nephritis, Short palpebral fissure, Tricuspid ... |
ORPHA:391641 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... |
ORPHA:93101 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Cleft palate, Smooth philtrum, Thin upper lip vermilion, Highly arched eyebrow, Truncus arteriosus |
OMIM:611867 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Cleft palate, Unilateral renal agenesis, Ventricular septal defect, Hydranencephaly, Truncus arte... |
OMIM:601355 |
| Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal defect, Ambiguous ... |
ORPHA:3097 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
| Prune Belly Syndrome |
|
Abnormality of the ureter, Aplasia of the abdominal wall musculature, Ventricular septal defect, ... |
ORPHA:2970 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Intrauterine growth retardation, Low-set ears, Congenital diaphragmatic hernia,... |
ORPHA:2470 |
| Orofaciodigital Syndrome Xvii |
|
Low-set ears, High, narrow palate, Micropenis, Retrognathia, Partial duplication of thumb phalanx... |
OMIM:617926 |
| Trisomy 18 |
|
Cleft palate, Abnormality of the upper urinary tract, Anencephaly, Ventricular septal defect, Omp... |
ORPHA:3380 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Wide mouth, High, narrow palate, Sparse hair, Upslanted palpebral fissure, Absent lacrimal punctu... |
OMIM:273390 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Generalized hirsutism, Cryptorchidism, Umbilical hernia |
ORPHA:1918 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia |
OMIM:618987 |
| Burn-Mckeown Syndrome |
|
Conductive hearing impairment, Protruding ear, 2-3 toe syndactyly, Inguinal hernia, Cleft palate,... |
OMIM:608572 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Sex reversal, Congenital diaphragmatic hernia, Cleft palate, Renal agenesis, Hypospadias, Bilater... |
OMIM:611812 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
High palate, Supernumerary nipple, Inguinal hernia, Micropenis, Highly arched eyebrow, Arteria lu... |
OMIM:618653 |
| Distal Monosomy 12Q |
|
Biliary atresia, Pyloric stenosis, Downslanted palpebral fissures, Congenital hypertrophy of left... |
ORPHA:96149 |
| Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Conductive hearing impairment, 2-3 toe syndactyly, Cleft palate, Microtia, Small thenar eminence,... |
OMIM:239800 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Abnormal pinna morphology, Microretrognathia, Cleft palate, Camptodactyly, Renal hyp... |
OMIM:246560 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Tracheoesophageal fistula, Ventricular septal defect, Patent du... |
ORPHA:77298 |
| Maternal Phenylketonuria |
|
High palate, Double outlet right ventricle, Hypoplastic left heart, Long philtrum, Coarctation of... |
ORPHA:2209 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Cleft palate, Upslanted palpebral fissure, Ventricular septal defect, Deep ... |
OMIM:610536 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Elbow ankylosis, Abnormal external geni... |
ORPHA:95699 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Nephronophthisis, ... |
OMIM:266920 |
| Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Bifid uvula, Low posterior hairline, Downturned corners of mouth, Esopha... |
OMIM:618779 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Hypergonadotropic hypogonadism, Horseshoe kidney, Complete duplication of thumb pha... |
OMIM:227645 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micromelia, Delayed eruptio... |
OMIM:184260 |
| Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Hypoplasia of the thymus, Hydrops fetalis, Long philtrum, Oligohydram... |
OMIM:617022 |
| Focal Dermal Hypoplasia |
|
Hypoplastic pelvis, Abnormal epiphysis morphology, Horseshoe kidney, Umbilical hernia, Omphalocel... |
ORPHA:2092 |
| Mosaic Trisomy 1 |
|
Abnormal pinna morphology, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Hepatic agen... |
ORPHA:1692 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... |
OMIM:208540 |
| Schinzel-Giedion Syndrome |
|
High palate, Abnormal helix morphology, Hepatoblastoma, Infantile sensorineural hearing impairmen... |
ORPHA:798 |
| Fanconi Anemia, Complementation Group A |
|
Neutropenia, Absent thumb, Renal agenesis, Anemia, Anemic pallor, Hypergonadotropic hypogonadism,... |
OMIM:227650 |
| 12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Intestinal malrotation, Micrognathia, Abnormality of the spleen, ... |
ORPHA:94063 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Cleft palate, Abnormal hip bone morphology, Overfolded helix, Retrognathia, Camptodactyly of fing... |
ORPHA:2631 |
| Distal Trisomy 6P |
|
Micrognathia, Abnormality of the urinary system, Short neck, Dry skin, Abnormal lung lobation, Re... |
ORPHA:1745 |
| Fanconi Anemia, Complementation Group E |
|
Neutropenia, Absent thumb, Renal agenesis, Anemia, Anemic pallor, Hypergonadotropic hypogonadism,... |
OMIM:600901 |
| Pseudoaminopterin Syndrome |
|
High palate, Slender finger, Clinodactyly of the 4th finger, Sagittal craniosynostosis, Horseshoe... |
ORPHA:221120 |
| Trisomy 1Q |
|
Cleft palate, Ambiguous genitalia, Omphalocele, Abnormality of the outer ear, Small scrotum, Anal... |
ORPHA:261344 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
| Acrocephalopolydactyly |
|
Microtia, Hepatosplenomegaly, Short neck, Brachydactyly, Abnormal renal morphology, Limb undergro... |
ORPHA:221054 |
| Braddock Syndrome |
|
Unilateral renal agenesis, Overfolded helix, Preaxial hand polydactyly, Short neck, Micrognathia,... |
ORPHA:52047 |
| Congenital Tracheomalacia |
|
Tracheoesophageal fistula, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Cardiomega... |
ORPHA:95430 |
| Opitz Gbbb Syndrome |
|
High palate, Posterior pharyngeal cleft, Cleft palate, Ventricular septal defect, Solitary median... |
OMIM:300000 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Renal agenesis, Short neck, Aplasia/hypoplasia of the uterus, Renal dysplasia,... |
ORPHA:2578 |
| Even-Plus Syndrome |
|
High palate, Epiphyseal dysplasia, Anal atresia, Microtia, Recurrent urinary tract infections, Sh... |
OMIM:616854 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Laryngomalacia, Hepatomegaly, Atrial septal defect, Flexion contracture, Splenom... |
OMIM:608149 |
| Coach Syndrome 1 |
|
Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, Unilateral renal agenesis, Spl... |
OMIM:216360 |
| Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... |
OMIM:619924 |
| Craniofrontonasal Dysplasia |
|
Sensorineural hearing impairment, High palate, Clinodactyly of the 5th finger, Congenital diaphra... |
ORPHA:1520 |
| Cat Eye Syndrome |
|
Tricuspid atresia, Cleft palate, Biliary atresia, Ventricular septal defect, Downslanted palpebra... |
OMIM:115470 |
| Femoral-Facial Syndrome |
|
Low-set ears, Coxa vara, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the tibia, Talipes equin... |
ORPHA:1988 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic pelvis, Pulmonary hypoplasia, Thyroid hypoplasia, Umbilic... |
OMIM:308050 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Overfolded helix, Clitoral hypoplasia, Pyloric stenosis, Bifid distal phalanx of the thumb, Ompha... |
OMIM:618419 |
| Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Macroglossia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Abnor... |
ORPHA:99886 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Narrow mouth, Atrial septal defect, Joint contracture of the hand, Inguinal hernia, Short palpebr... |
ORPHA:352490 |
| Intellectual Disability-Strabismus Syndrome |
|
High palate, Recurrent gastroenteritis, Short neck, Rocker bottom foot, Intrauterine growth retar... |
ORPHA:363528 |
| Tonne-Kalscheuer Syndrome |
|
Narrow mouth, Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Micropenis, Hypospad... |
OMIM:300978 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Low-set ears, 2-3 toe syndactyly, Supernumerary nipple, Joint hypermobility, Micropenis, Unilater... |
OMIM:619951 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Elevated cir... |
OMIM:614034 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Laryngomalacia, Hiatus hernia, Gastroesophageal reflux, Persistence of primary teeth, Atrial sept... |
OMIM:619769 |
| Mosaic Trisomy 14 |
|
High palate, Ectopic anus, Hypoplasia of penis, Cleft palate, Microtia, Hypospadias, Camptodactyl... |
ORPHA:1703 |
| Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Hiatus hernia, Osteopenia, Cholestasis, Pancreatic hypoplasia, Sagittal craniosynos... |
OMIM:610199 |
| Short Rib-Polydactyly Syndrome |
|
Nephronophthisis, Cleft palate, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the l... |
ORPHA:1505 |
| Bresek Syndrome |
|
Intrauterine growth retardation, Low-set ears, Protruding ear, Cleft palate, Hypoplasia of the bl... |
ORPHA:85284 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sensorineural hearing impairment, Lymphopenia, Inguinal hernia, Micropenis, Unilateral renal agen... |
OMIM:616541 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Short neck, Pulmonary hypoplasia, Intrauterine growth retardation, Flex... |
OMIM:616897 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sensorineural hearing impairment, Conductive hearing impairment, Webbed neck, Cervical C2/C3 vert... |
OMIM:118100 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Polyhydramnios, P... |
ORPHA:3033 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Webbed neck, Cleft palate, Microtia, Craniosynostosis, Abnormality... |
ORPHA:2145 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Cleft palate, Abnormal liver lobulation, Short neck, Enlarged kidney, Hammertoe... |
OMIM:608022 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Rhizomelia, Renal hypoplasia, Anteriorly place... |
OMIM:617661 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Aminoaciduria, Flexion contracture, Retrognathia, Anisocytosis, Micrognathia, Campt... |
OMIM:604273 |
| Vacterl With Hydrocephalus |
|
Anal atresia, Renal hypoplasia/aplasia, Inguinal hernia, Renal agenesis, Tracheoesophageal fistul... |
ORPHA:3412 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Wide mouth, Ventricular septal defect, Downslanted palpebral fissures, Long eyelashes, Umbilical ... |
ORPHA:329224 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Cone-shaped epiphysis, Abnormality of bone mineral dens... |
ORPHA:3156 |
| Pallister-Hall-Like Syndrome |
|
Cleft palate, Micropenis, Anterior hypopituitarism, Renal dysplasia, Pulmonary hypoplasia, Median... |
OMIM:241800 |
| Fanconi Anemia, Complementation Group Q |
|
Primum atrial septal defect, Biliary atresia, Anteriorly placed anus, Bone marrow hypocellularity... |
OMIM:615272 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Wide mouth, Reduced subcutaneous adipose tissue, Muscular ventricular septal defect,... |
OMIM:619503 |
| Charge Syndrome |
|
Labial hypoplasia, External genital hypoplasia, Cleft palate, Tracheoesophageal fistula, Ventricu... |
OMIM:214800 |
| Pentalogy Of Cantrell |
|
Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Abnormal pericardium morphol... |
ORPHA:1335 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Osteopenia, Avascular necrosis of the capital fem... |
OMIM:611555 |
| Acrocallosal Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Congenital diaphragmatic hernia, Inguin... |
ORPHA:36 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Tricuspid atresia, Cleft palate, Abnormality of the dentition, Short philtrum, Ca... |
ORPHA:567 |
| Acrorenal Syndrome, Autosomal Recessive |
|
Split hand, Split foot, Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency, Cli... |
OMIM:201310 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... |
OMIM:618316 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Conductive hearing impairment, Decreased response to growth horm... |
OMIM:609053 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Abnormality of the ureter, Abnormal hair pattern, Gonadal... |
ORPHA:1770 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Anencephaly, Ambiguous genitalia, Furrowed tongue... |
ORPHA:564 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... |
OMIM:228940 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Van Esch-O'Driscoll Syndrome |
|
Wide mouth, Pulmonary valve atresia, Atrial septal defect, Short palpebral fissure, Upslanted pal... |
OMIM:301030 |
| 15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Anal atresia, Abnormality of toe, Decreased response to growth hormone stimulat... |
ORPHA:94065 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism |
OMIM:613730 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Short uvula, Micromelia, Pulmonary hypoplasia, Bowing of the long bone... |
OMIM:614091 |
| Fryns Syndrome |
|
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Pulmonary hypoplasia, ... |
ORPHA:2059 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
High palate, Abnormality of the tongue, Cleft palate, Aplasia/Hypoplasia of the abdominal wall mu... |
ORPHA:2990 |
| Frontometaphyseal Dysplasia 2 |
|
High palate, Cleft palate, Short philtrum, Pyloric stenosis, Downslanted palpebral fissures, Subg... |
OMIM:617137 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Unilate... |
OMIM:601076 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Microretrognathia, ... |
ORPHA:1307 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Sparse hair, Micropenis, Abnormal hair whorl, Hypospadias, Bifid uvula, Down... |
ORPHA:2872 |
| Williams Syndrome |
|
Cholelithiasis, Wide mouth, Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery m... |
ORPHA:904 |
| Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Glycosuria, Gout, Biliary tract abnormality, Pancreatic hypopl... |
OMIM:137920 |
| Takenouchi-Kosaki Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Overlapping toe, Webbed neck, Dental malocclusion... |
OMIM:616737 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Sensorineural hearing impairment, Low-set ears, Dental malocclusion, Hypoplasia of penis, Bifid s... |
ORPHA:85321 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Cleft palate, Tracheoesophageal fistula, Abnormality of the hypothalamus-pit... |
ORPHA:3157 |
| Dextrocardia |
|
Webbed neck, Intestinal malrotation, Abnormality of the ureter, Aplasia/Hypoplasia of the ear, Ab... |
ORPHA:1666 |
| Cenani-Lenz Syndrome |
|
Protruding ear, Renal hypoplasia/aplasia, Finger syndactyly, High, narrow palate, Hypoplasia of t... |
ORPHA:3258 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Duodenal atresia, Flexion contracture of finger, Gastroesophageal reflux, Aortic valve stenosis, ... |
ORPHA:464311 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Ureteral obstruction, Urinary retention, Pneumonia, Erosion of oral mucosa, Gastrointes... |
ORPHA:79404 |
| Coach Syndrome 3 |
|
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... |
OMIM:619113 |
| Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia, Cleft palate, Hand polydactyly |
OMIM:236110 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Upper limb undergrowth, Horseshoe kidney, Thin skin, Omphalocele... |
OMIM:613630 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Sensorineural hearing impairment, Abnormality of the endocrine system, Cryptorchidism, Short four... |
ORPHA:464288 |
| Fanconi Anemia, Complementation Group L |
|
Anal atresia, Webbed neck, Absent thumb, Micropenis, Unilateral renal agenesis, Microtia, Anemia,... |
OMIM:614083 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Bilateral renal atrophy, Congenital diaphragmatic hernia, Metatarsal... |
OMIM:166300 |
| Nager Syndrome |
|
Joint stiffness, Cleft palate, Microtia, Unilateral renal agenesis, Hypoplasia of the radius, Mic... |
ORPHA:245 |
| Degcags Syndrome |
|
High palate, Hepatomegaly, Abnormal renal medulla morphology, Hiatus hernia, Craniosynostosis, Os... |
OMIM:619488 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, K... |
OMIM:616531 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Duodenal atresia, Gastroesophageal reflux, Aortic valve stenosis, Mi... |
ORPHA:464306 |
| Van Maldergem Syndrome 2 |
|
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Talipes equinovarus,... |
OMIM:615546 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sensorineural hearing impairment, Cryptorchidism, Micrognathia, Down-sloping shoulders, Hypothyro... |
OMIM:616817 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis, Hearing impairment, Aganglionic megacolon, Hand polydactyly |
OMIM:235740 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal atresia, Sparse hair, Absent eyebrow, Intestinal malrotation, Hypoplasia of the thymus... |
ORPHA:436252 |
| Bartsocas-Papas Syndrome 1 |
|
Absent thumb, Cleft palate, Short neck, Ambiguous genitalia, Hypoplasia of the maxilla, Omphaloce... |
OMIM:263650 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Wide mouth, Narrow mouth, Thick eyebrow, Short palpebral fissure, Inguinal hernia, Upslanted palp... |
OMIM:615834 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Laryngotracheomalacia, Low-set ears, Clinodactyly of the 5th finger, Supernumerary nipple, Congen... |
OMIM:618454 |
| Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Ventric... |
OMIM:301068 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Joint contracture of the 4th finger, Inguinal hernia, Retrognathia, Small the... |
OMIM:618914 |
| Oeis Complex |
|
Labial hypoplasia, Ambiguous genitalia, female, Bifid uterus, Bladder exstrophy, Anteriorly place... |
OMIM:258040 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... |
ORPHA:411696 |
| Gastroschisis |
|
Abnormality of mesentery morphology, Intestinal atresia, Gastroschisis |
ORPHA:2368 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Carious teeth, Neoplasm of the urethra, Colitis, Flexion contracture, Inflammation of ... |
ORPHA:2908 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Inguinal hernia, Cleft palate... |
ORPHA:2311 |
| Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Short palpebral fissure, Horseshoe kidney, Pancytopenia, Pelvic kidney, Anemia, B... |
OMIM:613951 |
| Williams-Beuren Region Duplication Syndrome |
|
High palate, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Ov... |
OMIM:609757 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| 2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Clinodactyly of the 5th finger, Supernumerary nipple, Congenital d... |
ORPHA:1001 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Inguinal hernia, Cleft palate, Unilateral renal agenesis, Multicystic kidney dysplasia, Dry skin,... |
OMIM:308205 |
| Tetraamelia Syndrome 1 |
|
Anal atresia, Urethral atresia, Congenital diaphragmatic hernia, Absent external genitalia, Cleft... |
OMIM:273395 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Flexion contracture of thumb, Narrow mouth, Thick eyebrow, Short nail, Bifid scrotum, Flexion con... |
ORPHA:324540 |
| Hennekam Syndrome |
|
Lymphangioma, Craniosynostosis, Delayed eruption of teeth, Pyloric stenosis, Horseshoe kidney, Ma... |
ORPHA:2136 |
| Genitopalatocardiac Syndrome |
|
Low-set ears, Gonadal dysgenesis, male, Congenital diaphragmatic hernia, Cleft palate, Hypospadia... |
ORPHA:2075 |
| Opitz Gbbb Syndrome |
|
High palate, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Downslanted palp... |
ORPHA:2745 |
| Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis, Triphalangeal thumb |
OMIM:256690 |
| Intellectual Developmental Disorder, X-Linked 99 |
|
Gastroesophageal reflux, Tracheomalacia, Hypospadias, Broad hallux, Broad thumb, Ectopic kidney, ... |
OMIM:300919 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Talipes equinovarus, Unilateral renal agenesis, Bilateral renal agenesis, Vertebral fusion, Urete... |
OMIM:618845 |
| Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Sandal gap, Ana... |
OMIM:607323 |
| Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Crossed fused renal ectopia, Atresia of the external aud... |
ORPHA:2213 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Hepatomegaly, Cleft palate, Urachus fistula, Cor triatriatum, Splenomegaly, Recurren... |
OMIM:612541 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Ventricular sept... |
OMIM:600001 |
| Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Congenital diaphragmatic hernia, Bicorn... |
ORPHA:2143 |
| Acrocardiofacial Syndrome |
|
Cleft upper lip, Anal atresia, Mitral stenosis, Atrial septal defect, Hypoplasia of penis, Cleft ... |
ORPHA:2008 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Acetabular spurs, Hepatomegaly, Supernumerary nipple, Inguinal hernia, Chronic tubulointerstitial... |
OMIM:614376 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Intrahepatic biliary atresia, Jaundice, Cholestatic liver disease, Renal tu... |
OMIM:208085 |
| Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal d... |
OMIM:615524 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida, Exocrine pancreatic insufficiency, Bicuspid aortic valve, Hypertrichosis, Short pal... |
ORPHA:508498 |
| Distal Tetrasomy 15Q |
|
Hydrocele testis, High palate, Abnormal helix morphology, Abnormal external genitalia, Craniosyno... |
ORPHA:314588 |
| Beckwith-Wiedemann Syndrome |
|
Posterior helix pit, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palat... |
ORPHA:116 |
| Van Maldergem Syndrome 1 |
|
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Anteriorly placed an... |
OMIM:601390 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Rhizomelia, Ambiguous genitalia, Pulmonary hy... |
OMIM:616300 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Tracheoesophageal fistula, Coronal hypospadias, Polyhydramnios, Bilateral cryptorchidism, Esophag... |
OMIM:619859 |
| Hadziselimovic Syndrome |
|
High palate, Anal atresia, Pulmonary artery atresia, Renal hypoplasia, Low-set ears, Posteriorly ... |
OMIM:612946 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Laryngomalacia, Abnormal cardiac septum morphology, Intestinal atresia, Tracheoesophageal fistula... |
ORPHA:93941 |
| Syndromic Diarrhea |
|
Hepatomegaly, Hepatoblastoma, Gastritis, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:84064 |
| Vater/Vacterl Association |
|
Anal atresia, Renal agenesis, Tracheoesophageal fistula, Hypospadias, Occipital encephalocele, Te... |
OMIM:192350 |
| Thanatophoric Dysplasia |
|
Joint stiffness, Abnormality of the kidney, Hip dysplasia, Redundant skin, Brachydactyly, Microme... |
ORPHA:2655 |
| Meacham Syndrome |
|
Blind vagina, Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Pulmonar... |
OMIM:608978 |
| Imagawa-Matsumoto Syndrome |
|
Hypertrichosis, Camptodactyly, Downslanted palpebral fissures, Anteriorly placed anus, Umbilical ... |
OMIM:618786 |
| Pallister-Hall Syndrome |
|
Central adrenal insufficiency, Cleft palate, Ambiguous genitalia, Thyroid hypoplasia, Umbilical h... |
ORPHA:672 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Nephron... |
OMIM:615630 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Jaundice, Cleft palate, Aminoaciduria, Joint contracture of the hand, Upslanted pal... |
OMIM:214110 |
| Congenital Hypothyroidism |
|
Nephrolithiasis, Sinusitis, Abnormality of the thyroid gland, Prolonged neonatal jaundice, Macrog... |
ORPHA:442 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cryptorchidism, Cleft palate, Finger joint hypermobility, Unilateral renal agenesis, Micropenis, ... |
OMIM:244200 |
| Roifman-Chitayat Syndrome |
|
Osteopenia, Cone-shaped epiphysis, Short neck, Arthritis, Ectopic kidney, Umbilical hernia, Pneum... |
OMIM:613328 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| Digeorge Syndrome |
|
Hydrocele testis, Cholelithiasis, High palate, Cleft palate, Ovarian cyst, Short philtrum, Ventri... |
OMIM:188400 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Hydrocele testis, High palate, Cleft palate, Overfolded helix, Pulmonary hypoplasia, Short distal... |
OMIM:614080 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Unilateral renal agenesis, Testicular seminoma, Renal insufficiency,... |
ORPHA:281090 |
| Cartilage-Hair Hypoplasia |
|
Malabsorption, Lymphopenia, Sparse hair, Sparse eyebrow, Congenital hypoplastic anemia, Fair hair... |
OMIM:250250 |
| Rhombencephalosynapsis |
|
Anal atresia, Narrow mouth, Tracheoesophageal fistula, Abnormal renal morphology, Abnormality of ... |
ORPHA:59315 |
| Anencephaly 2 |
|
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
| Atelosteogenesis Type Ii |
|
Cleft palate, Bilateral cleft palate, Long philtrum, Camptodactyly, Telecanthus, Polyhydramnios, ... |
ORPHA:56304 |
| Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
| Acrorenal-Mandibular Syndrome |
|
Absent nipple, Aplasia of the bladder, High palate, Hypoplasia of the radius, Uterus didelphys, A... |
OMIM:200980 |
| Apert Syndrome |
|
Ectopic anus, Dental malocclusion, Narrow palate, Cleft palate, Shallow orbits, Bifid uvula, Dela... |
OMIM:101200 |
| Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Abnormality of the neck, Cleft palate, Micropenis, Microtia, Micrognath... |
ORPHA:1926 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2549 |
| Mirage Syndrome |
|
Adrenal insufficiency, Lymphopenia, Gastroesophageal reflux, Aspiration pneumonia, Hypergonadotro... |
OMIM:617053 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, Hepatomegaly, Abnormal helix morphology, Pulmonary hypoplasia, Clitoral hypertrophy,... |
OMIM:214100 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Clinodactyly of the 5th finger, Absence of renal corticomedullary differentiation, Hepatic failur... |
OMIM:619758 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Upslanted palpebral fissure, Pancreatic fibrosis, Cystic renal d... |
OMIM:200995 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Cleft palate, Micromelia, Hammertoe, Ambiguous genitalia, Pyloric stenosis, Pulmona... |
OMIM:270400 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Clinodactyly of the 3rd finger, Cone-shaped epiphysis, Clinodactyly of the 4th finger, Osteopenia... |
ORPHA:221139 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Elevated circulating parathyroid hormone leve... |
OMIM:101800 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... |
OMIM:619846 |
| Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
High palate, Cleft palate, Tapered finger, Pulmonary hypoplasia, Mandibular prognathia, Hand clen... |
OMIM:618975 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
High palate, Hip contracture, Protruding ear, Internally rotated shoulders, Talipes equinovarus, ... |
OMIM:617468 |
| Acro-Renal-Mandibular Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Uterus didelphys, Trache... |
ORPHA:958 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Ectopic anus, Anal atresia, Cleft upper lip, Hypoplasia of penis, Bifid epiglottis, Uterus didelp... |
ORPHA:93271 |
| Sialidosis Type 2 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Hydrops fetalis, Nephropathy, P... |
ORPHA:87876 |
| Williams-Beuren Syndrome |
|
Stroke, Myxomatous mitral valve degeneration, Microdontia, Ventricular septal defect, Rectal prol... |
OMIM:194050 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Cleft palate, Weakness of facial musculature, Down-slop... |
OMIM:265000 |
| Duane Retraction Syndrome |
|
Cleft palate, Hypoplasia of the radius, Short neck, Anorectal anomaly, Skeletal muscle atrophy, T... |
ORPHA:233 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticomedulla... |
OMIM:616733 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
| Aminopterin Syndrome Sine Aminopterin |
|
High palate, Joint contracture of the hand, Cleft palate, Inguinal hernia, Oligodontia, Frontal u... |
OMIM:600325 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios, Adrenal hypoplasia, Pulmonary hypoplasia |
OMIM:613124 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal agenesis, Micrognathia, Bifid uvula, Renal hypoplasia, Arthrogryposis ... |
OMIM:616258 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Accessory oral frenulum, Inguinal hernia, Epicanthus, Umbilical hernia, Ptosis |
ORPHA:1373 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Anal atresia, Dental malocclusion, Velopharyngeal insufficiency, Micropenis, Uni... |
ORPHA:363444 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Gastroesophageal reflux, Short palpebral fissure, Upslanted palpebral fissure, Narrow palpebral f... |
OMIM:151200 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Microtia, Abnormality of the upper urinary tract, Hydroureter, Camptodactyly... |
ORPHA:2547 |
| Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Hypospadias, Micrognathia, Ectopic kidney, Microglossia |
OMIM:606744 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Inguinal hernia, Intrahepatic biliary atresia, Hypospadias, Chol... |
ORPHA:1296 |
| Radial-Renal Syndrome |
|
Absent thumb, Unilateral renal agenesis, External ear malformation, Ectopic kidney, Absent radius |
OMIM:179280 |
| Chromosome 15Q25 Deletion Syndrome |
|
Webbed neck, Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia, Cleft palate, Shor... |
OMIM:614294 |
| Agnathia-Otocephaly Complex |
|
Narrow mouth, Secundum atrial septal defect, Cleft palate, Hypoplasia of the epiglottis, Laryngea... |
OMIM:202650 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology |
OMIM:609812 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Abnormality ... |
OMIM:601163 |
| Gracile Bone Dysplasia |
|
Micropenis, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen, Ankyloglossi... |
OMIM:602361 |
| Arthrogryposis, Distal, Type 1C |
|
High palate, Hip contracture, Narrow mouth, Pursed lips, Cleft palate, Thin vermilion border, Cam... |
OMIM:619110 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cleft upper lip, Supernumerary nipple, Cleft palate, Sparse eyebrow, Congenital diap... |
OMIM:612530 |
| Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Micropenis, Abnormality of the diaphragm, ... |
ORPHA:171430 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
High palate, Hypoplasia of the ear cartilage, Arachnodactyly, Abnormality of the ureter, Micromel... |
ORPHA:1035 |
| Alg9-Cdg |
|
Hepatomegaly, Short neck, Hypoplasia of the bladder, Enlarged kidney, Hepatic cysts, Lipodystroph... |
ORPHA:79328 |
| Rin2 Syndrome |
|
High palate, Sparse scalp hair, Gingival overgrowth, Hirsutism, Hypergonadotropic hypogonadism, U... |
ORPHA:217335 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Hepatoblastoma, Abnormal helix morphology, Cleft palate, Aplasia/Hypoplasia of the ... |
ORPHA:373 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Abnormality of the lymph nodes, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:911 |
| Netherton Syndrome |
|
Sparse scalp hair, Malabsorption, Aminoaciduria, Sparse eyebrow, Sparse eyelashes, Dehydration, T... |
ORPHA:634 |
| Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Short sternum, Non-acidotic proximal tu... |
OMIM:222448 |
| Zaki Syndrome |
|
High palate, Ectrodactyly, Congenital diaphragmatic hernia, Renal agenesis, Micrognathia, Cupped ... |
OMIM:619648 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Lowry-Maclean Syndrome |
|
Low-set ears, Congenital diaphragmatic hernia, Abnormality of the abdominal organs, Inguinal hern... |
ORPHA:2409 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Atrial septal defect, Bicornuate uterus, Upslanted palpebral fissure, Long phil... |
OMIM:145420 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Inguinal hernia, Abnormality of the d... |
ORPHA:915 |
| Rhyns Syndrome |
|
Conductive hearing impairment, Chronic kidney disease, Radial bowing, Decreased response to growt... |
OMIM:602152 |
| Li-Campeau Syndrome |
|
Hypertrichosis, Atrial septal defect, Thick eyebrow, Micropenis, Long philtrum, Hypothyroidism, V... |
OMIM:619189 |
| Acces Syndrome |
|
Ectrodactyly, Protruding ear, Clinodactyly of the 5th finger, Supernumerary nipple, Split foot, R... |
OMIM:619959 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Anemia, Hypospadias, Abnormality of ... |
ORPHA:1046 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Cryptorchidism, Finger syndactyly, Microtia, Cleft palate, Micro... |
ORPHA:3429 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Unilateral renal agenesis, Posteriorly rotated ears, Intrauterine growth retardation, Preaxial ha... |
OMIM:608406 |
| Primary Ciliary Dyskinesia |
|
Conductive hearing impairment, Anomalous pulmonary venous return, Intestinal malrotation, Chronic... |
ORPHA:244 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Ankle flexion contracture, Gastroesophageal ref... |
ORPHA:435938 |
| Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Cleft palate, Hypoplasia of the radius, Radioulnar synostosis, Broad hallux, Trismu... |
OMIM:154400 |
| Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis, Hepatic failure |
OMIM:614845 |
| Renal Dysplasia-Limb Defects Syndrome |
|
High palate, Abnormal pinna morphology, Short sternum, Hypoplasia of the radius, Short neck, Pulm... |
OMIM:266910 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Wide mouth, Low anterior hairline, Macroglossia, Upslanted palpebral fissure, Arthro... |
ORPHA:369891 |
| Genitopatellar Syndrome |
|
Hip contracture, Talipes equinovarus, Cryptorchidism, Gastroesophageal reflux, Hypoplastic ilia, ... |
ORPHA:85201 |
| Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Cleft upper lip, Cleft palate, Anencephaly, Hepatic cysts, Absent gallbla... |
OMIM:612284 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Deviation of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Bro... |
OMIM:616362 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Inguinal hernia, Upslanted palpebral fissure, Long philtrum, Epicanthus, Umbilical h... |
OMIM:613544 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Exocrine pancreatic insufficiency, Craniosynostosis, Severe B lymphocytopenia, Tapered finger, In... |
OMIM:620005 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Myelomeningocele, Posteriorly placed anus, Anal atresia, Duodenal atresia, Hepatomegaly, Bilatera... |
OMIM:306955 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Everted lower lip vermilion, Long philtrum, Ventricular septal defect,... |
ORPHA:261120 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal pinna morphology, Femoral bowing, Short neck, Micromelia, Prolonged neonatal jaundice, I... |
OMIM:210710 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
| Stankiewicz-Isidor Syndrome |
|
Micropenis, Hypospadias, Ureteral duplication, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:617516 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Tarp Syndrome |
|
Abnormal antihelix morphology, Short sternum, Cleft palate, Tongue nodules, Pulmonary hypoplasia,... |
ORPHA:2886 |
| Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Cleft palate, Inguinal hernia, Glossoptosis, Coarctation of aorta, ... |
OMIM:616145 |
| Verheij Syndrome |
|
Renal agenesis, Short neck, Short 5th finger, Renal cyst, Renal hypoplasia, Clinodactyly, Hip dis... |
OMIM:615583 |
| Trisomy 20P |
|
Abnormality of the dentition, Abnormality of the ureter, Short philtrum, Coarse hair, Microdontia... |
ORPHA:261318 |
| Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Hypoparathyroidism, Velopharyngeal insufficiency, Cleft ... |
OMIM:192430 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High palate, Hyperinsulinemia, Short sternum, Osteopenia, Short neck, Irregular proximal tibial e... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
High palate, Hyperinsulinemia, Short sternum, Osteopenia, Short neck, Irregular proximal tibial e... |
ORPHA:99228 |
| Monosomy X |
|
High palate, Hyperinsulinemia, Short sternum, Osteopenia, Short neck, Irregular proximal tibial e... |
ORPHA:99226 |
| Turner Syndrome |
|
High palate, Hyperinsulinemia, Short sternum, Osteopenia, Short neck, Irregular proximal tibial e... |
ORPHA:881 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of femur morphology, Anal atresia, Narrow palate, Congenital diaphragmatic hernia, Cr... |
ORPHA:2063 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia |
OMIM:615297 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Duodenal atresia, Narrow mouth, Ankle flexion contracture, Upslanted... |
ORPHA:468631 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Congenital... |
ORPHA:2847 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Anal atresia, Talipes equinovarus, Hypertrophy of the urinary bladder, Autoimmune thrombocytopeni... |
OMIM:601389 |
| Buratti-Harel Syndrome |
|
High palate, Laryngomalacia, Velopharyngeal insufficiency, Gastroesophageal reflux, Atrial septal... |
OMIM:619314 |
| Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
High palate, Low-set ears, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Gastroesophageal r... |
ORPHA:502434 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Anal atresia, Narrow mouth, Renal hypoplasia/aplasia, Abnormal cardiac septum morphology, Hypopla... |
ORPHA:2166 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Laryngomalacia, Bladder diverticulum, Gastroesophageal reflux, Inguinal hernia, Long philtrum, Py... |
OMIM:613177 |
| X-Linked Intellectual Disability, Snyder Type |
|
High palate, Testicular atrophy, Cleft palate, Abnormality of the Leydig cells, Mandibular progna... |
ORPHA:3063 |
| Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Microtia, Tracheomalacia, Tracheoesophageal fistula, Micrognathi... |
ORPHA:268249 |
| Poland Syndrome |
|
Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Abnormality of the outer ear, Ence... |
ORPHA:2911 |
| Cloacal Exstrophy |
|
Bladder exstrophy, Abnormality of fibula morphology, Horseshoe kidney, Omphalocele, Anal atresia,... |
ORPHA:93929 |
| Mucopolysaccharidosis, Type Iiia |
|
Hirsutism, Hepatomegaly, Inguinal hernia, Splenomegaly, Recurrent upper respiratory tract infecti... |
OMIM:252900 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Microtia, Micrognathi... |
OMIM:248910 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Pelvic kidney, Wide mouth, Hirsutism, Gastroesophageal reflux, Thick eyebrow, Long palpebral fiss... |
ORPHA:466950 |
| Coffin-Siris Syndrome 1 |
|
High palate, Abnormal pinna morphology, Short sternum, Prominent fingertip pads, Cleft palate, De... |
OMIM:135900 |
| Hypoglossia With Situs Inversus |
|
High palate, Micrognathia, Microglossia, Low-set ears, Polysplenia, Asplenia |
OMIM:612776 |
| Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... |
ORPHA:2919 |
| 8Q24.3 Microdeletion Syndrome |
|
Exocrine pancreatic insufficiency, Abnormal cricoid cartilage morphology, Atrioventricular canal ... |
ORPHA:508488 |
| Alg3-Cdg |
|
High palate, Decreased liver function, Abnormality of the endocrine system, Macroglossia, Coarcta... |
ORPHA:79321 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Talipes equinovarus, Micrognathia, Neonatal death, Pulmonary hypoplasia, Bowing of the long bones... |
OMIM:224410 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Horseshoe kidney, Clinodactyly of the 5th finger, M... |
ORPHA:3320 |
| Retinitis Pigmentosa 27 |
|
Pallor, Macular edema |
OMIM:613750 |
| 1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate, Upslanted palpebral fissure, Hypergonadotropic hyp... |
ORPHA:250999 |
| Renal Agenesis, Bilateral |
|
Cleft palate, Renal agenesis, Tracheoesophageal fistula, Sirenomelia, Abnormal morphology of fema... |
ORPHA:1848 |
| Cerebrofacioarticular Syndrome |
|
Conductive hearing impairment, Talipes equinovarus, Microtia, Tracheomalacia, Hypospadias, Osteop... |
ORPHA:314679 |
| Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
High palate, Abnormal cardiac septum morphology, Inguinal hernia, Short philtrum, Epicanthus, Umb... |
OMIM:618354 |
| Seckel Syndrome 8 |
|
Micrognathia, Ectopic kidney |
OMIM:615807 |
| Nephronophthisis 7 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611498 |
| Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Cleft palate, Ambiguous genitalia, Absent proximal finger flexion crea... |
ORPHA:2839 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hydrocele testis, High palate, Carious teeth, Ventricular septal defect, Downslanted palpebral fi... |
OMIM:619522 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops... |
OMIM:619313 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormal pinna morphology, Posterior pituitary hypoplasia, Postaxial hand polydactyly, Renal hypo... |
ORPHA:75389 |
| Senior-Loken Syndrome 4 |
|
Anemia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
| Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency, Hypogonadism |
OMIM:618681 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
| Xp22.13P22.2 Duplication Syndrome |
|
High palate, 2-3 toe syndactyly, Congenital diaphragmatic hernia, Small hand, Recurrent upper res... |
ORPHA:284180 |
| Pelvic Lipomatosis With Crossed Renal Ectopia |
|
Pelvic lipomatosis, Ectopic kidney |
OMIM:169545 |
| Penile Agenesis |
|
Tracheoesophageal fistula, Ventricular septal defect, Ambiguous genitalia, Pulmonary hypoplasia, ... |
ORPHA:49 |
| Gabriele-De Vries Syndrome |
|
High palate, Sparse eyebrow, Abnormality of the dentition, Downslanted palpebral fissures, Thick ... |
ORPHA:506358 |
| Apert Syndrome |
|
Ectopic anus, Narrow palate, Ovarian neoplasm, Cleft palate, Bifid uvula, Delayed eruption of tee... |
ORPHA:87 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Cleft palate, Micropenis, Intestinal malrotation, Pancreatic fibrosis, Hydr... |
OMIM:263520 |
| Cousin Syndrome |
|
Ambiguous genitalia, female, Cleft palate, Microtia, first degree, Rhizomelia, Absent proximal fi... |
OMIM:260660 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Recurren... |
ORPHA:500159 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Distally placed thumb, Cutaneous syndactyly, Anencephaly, Delayed eruption of teeth,... |
OMIM:619148 |
| Mahvash Disease |
|
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Dysphagia, Patent foramen ovale, Atrial septal defect, Hypoplastic spleen |
ORPHA:89844 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hydrocele testis, Cleft palate, Short philtrum, Pulmonary artery sling, Delayed eruption of teeth... |
ORPHA:261537 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Abnormal antihelix morphology, Low-set ears, Protruding ear, Webbed neck, Abnormal helix morpholo... |
ORPHA:261337 |
| Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Narrow mouth, Atrial septal defect, High, narrow palate, Cleft palate, Inguinal hernia, Branchial... |
ORPHA:261330 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Abnormal oral cavity morphology, Short philtrum, Downslanted palpebral fissures, Epicanthus, Pate... |
ORPHA:1516 |
| Anaplastic Thyroid Carcinoma |
|
Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Neoplasm of the lung, Dysphagia, Laryngo... |
ORPHA:142 |
| Hyperekplexia 4 |
|
High palate, Inguinal hernia, Flexion contracture, Camptodactyly, Distal arthrogryposis, Umbilica... |
OMIM:618011 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Short neck, Prominent crus of helix, Hypoplasia of the capital femoral epiphysi... |
OMIM:619194 |
| Scarf Syndrome |
|
Diastasis recti, Sparse hair, Inguinal hernia, Micropenis, Bifid scrotum, Long philtrum, Hepatoce... |
ORPHA:3134 |
| Joubert Syndrome 16 |
|
Renal cyst, Polydactyly, Nephronophthisis, Encephalocele |
OMIM:614465 |
| Greenberg Dysplasia |
|
Hepatomegaly, Anterior rib punctate calcifications, Nonimmune hydrops fetalis, Micromelia, Rhizom... |
OMIM:215140 |
| Mowat-Wilson Syndrome |
|
Hydrocele testis, Abnormal cardiac septum morphology, Cleft palate, Pulmonary artery sling, Delay... |
ORPHA:2152 |
| Meckel Syndrome 14 |
|
Microretrognathia, Postaxial polydactyly, Retrognathia, Micrognathia, Decreased calvarial ossific... |
OMIM:619879 |
| Chromosome 18Q Deletion Syndrome |
|
Cleft palate, Short philtrum, Ventricular septal defect, Downslanted palpebral fissures, Umbilica... |
OMIM:601808 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Microglossia, Abnormal epiglottis morphology, Cleft palate |
ORPHA:141152 |
| Congenital Laryngomalacia |
|
Laryngomalacia, Cleft palate, Non-midline cleft lip |
ORPHA:2373 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Anal atresia, Bicuspid aortic valve, Hirsutism, Vaginal fistula, Laryngeal cleft, Horseshoe kidne... |
OMIM:619318 |
| Meier-Gorlin Syndrome 7 |
|
High palate, Anal atresia, Narrow mouth, Atrial septal defect, Cleft palate, Micropenis, Hypospad... |
OMIM:617063 |
| Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Pulmonary hypoplasia, Patent ura... |
OMIM:618280 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Webbed neck, Abnormality of the endocrine system, Dental malocclusion, Flexion c... |
ORPHA:487796 |
| Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Thick eyebrow, Everted lower lip vermilion, Thin vermilion border, Long phi... |
ORPHA:1519 |
| Senior-Loken Syndrome 9 |
|
Nephronophthisis, Hypoplasia of the femoral head, Polydactyly, Cholestasis, Tubulointerstitial ne... |
OMIM:616629 |
| Smith-Lemli-Opitz Syndrome |
|
Wide mouth, Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Pyloric sten... |
ORPHA:818 |
| Chromosome 17Q12 Deletion Syndrome |
|
High palate, Ovarian cyst, Hypoplasia of the bladder, Upper limb undergrowth, Aplasia of the vagi... |
OMIM:614527 |
| Fanconi Anemia, Complementation Group W |
|
Duodenal atresia, Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia... |
OMIM:617784 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Low-set ears, Metaphyseal dysplasia, Decreased response to growth hormone stimulation test, Micro... |
OMIM:618336 |
| Cerebrocostomandibular Syndrome |
|
High palate, Congenital hip dislocation, Horseshoe kidney, Anteriorly placed anus, Clinodactyly o... |
OMIM:117650 |
| Ptosis-Vocal Cord Paralysis Syndrome |
|
Laryngomalacia, Ptosis |
ORPHA:2997 |
| 7Q11.23 Microduplication Syndrome |
|
High palate, Craniosynostosis, Overfolded helix, Short neck, Large earlobe, Tracheomalacia, Unila... |
ORPHA:96121 |
| Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Atrioventricular canal defect, Hypoplasia of the thymus, Epican... |
ORPHA:40366 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
| Joubert Syndrome 7 |
|
Nephronophthisis, Postaxial polydactyly, Postaxial hand polydactyly, Renal cyst, Genu valgum, Enc... |
OMIM:611560 |
| Pseudotrisomy 13 Syndrome |
|
Low-set ears, Anal atresia, 2-3 toe syndactyly, Cryptorchidism, Bicornuate uterus, Micropenis, Re... |
OMIM:264480 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal def... |
ORPHA:210122 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Tapered finger, Umbilical hernia, Shawl scrotum, Mandibular prognathia, Talipes equinovarus, Micr... |
OMIM:301040 |
| Carpenter Syndrome 1 |
|
High palate, External genital hypoplasia, Ventricular septal defect, Umbilical hernia, Omphalocel... |
OMIM:201000 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hydrocele testis, Cleft palate, Short philtrum, Pulmonary artery sling, Delayed eruption of teeth... |
ORPHA:261552 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
High palate, Facial hirsutism, Ventricular septal defect, Downslanted palpebral fissures, Long ey... |
ORPHA:444077 |
| Senior-Boichis Syndrome |
|
Reduced number of intrahepatic bile ducts, Malformation of the hepatic ductal plate, Cholestasis,... |
ORPHA:84081 |
| Cach Syndrome |
|
Pancreatitis, Flexion contracture, Hepatosplenomegaly, Gonadal dysgenesis, Renal hypoplasia, Arth... |
ORPHA:135 |
| Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Corneal stromal ed... |
ORPHA:699 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Hypergonadotropic hypogona... |
OMIM:602782 |
| Joubert Syndrome 4 |
|
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... |
OMIM:609583 |
| Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Tracheoesophageal fistula, Abnormality of the dentition, B... |
ORPHA:861 |
| Macs Syndrome |
|
High palate, Gingival overgrowth, Sparse hair, Sparse eyebrow, Alopecia, Hypergonadotropic hypogo... |
OMIM:613075 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Cleft palate, Uterus didelphys, Decreased calvarial ossification, Shor... |
OMIM:617925 |
| Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear, Congenital diaphragmatic hernia, Ab... |
ORPHA:1488 |
| Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Talipes equinovarus, Bifid humerus, Cleft palate, Micrognathia... |
OMIM:256050 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Congenital Pulmonary Valvar Stenosis |
|
Laryngeal stenosis, Atrial septal defect |
ORPHA:3189 |
| Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalan... |
ORPHA:380 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
High palate, Protruding ear, Clinodactyly of the 5th finger, Gastroesophageal reflux, Microtia, M... |
OMIM:618829 |
| Hydrolethalus Syndrome 1 |
|
Abnormal pinna morphology, Cleft palate, Bifid uterus, Anencephaly, Upper limb undergrowth, Ompha... |
OMIM:236680 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Microtia, Congenital diaphragmatic hernia, Micropenis |
ORPHA:370079 |
| Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Inguinal hernia, Right ventricular hypertrophy, Splenomegaly, Pulmonic ... |
OMIM:616028 |
| Tarp Syndrome |
|
High palate, Short sternum, Talipes equinovarus, Cleft palate, Microtia, Hypoplasia of the radius... |
OMIM:311900 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal pinna morphology, Cleft palate, Ureteral obstruction, Pulmonary hypoplasia, Omphalocele,... |
ORPHA:90652 |
| Joubert Syndrome 15 |
|
Ambiguous genitalia, Polydactyly, Nephronophthisis, Micropenis |
OMIM:614464 |
| Fanconi Anemia |
|
High palate, Abnormal cardiac septum morphology, Arteriovenous malformation, Absent testis, Cleft... |
ORPHA:84 |
| Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Multiple pterygia, Hypoplastic heart, Cleft palate, Flexion contracture, Polyhyd... |
OMIM:312150 |
| Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Osteopenia, Aplastic anemia, Delaye... |
ORPHA:811 |
| Choanal Atresia And Lymphedema |
|
High palate, Lymphedema, Pericardial effusion |
OMIM:613611 |
| Down Syndrome |
|
Anal atresia, Narrow mouth, Type II diabetes mellitus, Narrow palate, Renal hypoplasia/aplasia, M... |
ORPHA:870 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Polyhydramnios, Patent ductus arteriosus, Pulmonary hypoplasia, Patent foram... |
OMIM:616867 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
