Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Split foot, Triphalange... |
ORPHA:3434 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Mandibular pain, Bradycardia |
OMIM:167400 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Mildly elevated creatine kinase |
OMIM:620265 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Microphthalmia |
OMIM:616570 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial hypertension, Hyp... |
OMIM:616299 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis, Postaxial polydactyly |
OMIM:613094 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Thick lower lip vermilion, Atrioventricular block, Joint contractur... |
OMIM:614407 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... |
ORPHA:2791 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Timothy Syndrome |
|
Prolonged QT interval, Thin upper lip vermilion, Ventricular tachycardia, Atrioventricular block,... |
OMIM:601005 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:161900 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft palate, Widely-spa... |
OMIM:601349 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Macroglossia, Bradycardia, Abnormal epiphysis m... |
ORPHA:95716 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atri... |
OMIM:212138 |
Pierpont Syndrome |
|
Thin upper lip vermilion, Cryptorchidism, Short toe, Broad philtrum, Deep palmar crease, Thin ver... |
ORPHA:487825 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal epiphysis morphology, Br... |
ORPHA:95717 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Micromelia, Hyperammonemia, Thin vermilion border, Bradycardia, Camptodactyly |
OMIM:610015 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... |
OMIM:206920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Congestive heart failure, Decreased plasma free carnitine, Bradycardia |
OMIM:619048 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Pierpont Syndrome |
|
Cryptorchidism, Short toe, Broad palm, Short foot, Broad philtrum, Deep palmar crease, Thin vermi... |
OMIM:602342 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retrognathia, Thro... |
OMIM:619981 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Abnormally large globe, Micrognathia, Hypoplasia of the maxilla, Widely... |
ORPHA:363417 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... |
OMIM:615745 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Polycystic ovaries, Elevated diastolic blood press... |
ORPHA:275555 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi... |
OMIM:615297 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Thin upper lip vermilion, Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal wideni... |
OMIM:614376 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Illum Syndrome |
|
Calcinosis, Whistling appearance, Pierre-Robin sequence, Bradycardia |
OMIM:208155 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Micrognathia, Abnormality of the dentition, Clinodactyly, Split hand, ... |
OMIM:157900 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Retrognathia, High palate, Narrow mouth |
ORPHA:2528 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Decreased serum creati... |
ORPHA:54057 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Temtamy Syndrome |
|
Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Clinodactyly of the 5th finger, M... |
ORPHA:1777 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip |
OMIM:600251 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft |
OMIM:611638 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate |
ORPHA:2432 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu... |
OMIM:136760 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly |
OMIM:610023 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Bradycardia, Hyperammonemia |
OMIM:614702 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morphology, Bradycardia, Absent... |
ORPHA:226313 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Microphthalmia, Retrognathia |
OMIM:615524 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Trismus, Hypertension, Bradycardia |
ORPHA:3299 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Elevated circulating creatinine concentration, Oral ulcer |
ORPHA:567544 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia |
OMIM:614654 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Delayed proximal femoral ... |
ORPHA:90673 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Downturned corne... |
ORPHA:93267 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malocclusion, Oligo... |
OMIM:618727 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Elevated circulating creatine kinase concentration, Abnormal left ventricular function, Macroglos... |
OMIM:613155 |
Seckel Syndrome 2 |
|
Microdontia, Micrognathia, Heart murmur, Clinodactyly of the 5th finger, Microphthalmia, Microglo... |
OMIM:606744 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... |
OMIM:257850 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb, Bone marrow hypocellularity |
OMIM:609054 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Dental crowding, Micrognathia, High p... |
OMIM:620351 |
Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Microdontia, Microphthalmia, Arrhythmia, Abnormal circulating lipid concentration, ... |
ORPHA:3191 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Hip contracture, Microretrognathia, Coxa valga, Micrognathia, Carious teet... |
OMIM:618363 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Talipes e... |
OMIM:608104 |
Cln3 Disease |
|
T-wave inversion, Vacuolated lymphocytes, Bradycardia |
ORPHA:228346 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Slender long bone, Hypocalcemia, Aniridia, Microphthalmia, Hypoplast... |
OMIM:602361 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Ovarian neoplasm, O... |
OMIM:617883 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Micrognathia, Microdontia, Widely spaced teeth, Camptodactyly, Microphtha... |
OMIM:619694 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an... |
OMIM:618775 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Pituitary hypothyr... |
ORPHA:90674 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... |
ORPHA:435638 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... |
OMIM:212720 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Micrognathia, Tapered finger, Thin vermilion border, Hypocalcemia, Long philtrum, Mic... |
ORPHA:1438 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa... |
OMIM:613684 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Microphtha... |
OMIM:618805 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Micrognathia, Cr... |
OMIM:241410 |
Temtamy Syndrome |
|
Aortic regurgitation, Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short ... |
OMIM:218340 |
Cofs Syndrome |
|
Microphthalmia, Everted lower lip vermilion, Camptodactyly of finger, Micrognathia |
ORPHA:1466 |
Eem Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... |
ORPHA:1897 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Tapered toe, Elevated circulating creatine kinase concentration, Tapered finger, Long f... |
OMIM:608836 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Talipes equinovarus, Micrognathia |
OMIM:616171 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... |
ORPHA:163966 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ... |
OMIM:618914 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Micrognathia, Cryptorchidism, Carious ... |
OMIM:214150 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... |
OMIM:611561 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S... |
OMIM:192445 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly, Microphthalmia, Leukemia, Smooth philtrum |
OMIM:602501 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Micrognathia, Cryptorchidism, Thin vermilion border, Narrow mouth, Microphthalmia |
OMIM:600118 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Tented upper lip vermilion, Sandal gap, Small hand, Pine... |
OMIM:618885 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612926 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Small hand, Bilateral cle... |
OMIM:619339 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612924 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Monosomy 18P |
|
Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Hypertension, Short philt... |
ORPHA:1598 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Narrow mouth, Abnormal morphology of the radius |
ORPHA:3469 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Micrognathia, Abnormality of the elbow, Flat acetabular roof, Flattened epiphysis, He... |
ORPHA:163649 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Clubbing of fingers,... |
ORPHA:335 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:616733 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Single transverse palmar crease, Nonketotic hyperglycinemia, Aminoaciduri... |
OMIM:220120 |
Hydrolethalus |
|
Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cle... |
ORPHA:2189 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Cleft palate, Cleft upper lip |
OMIM:614402 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612925 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic... |
ORPHA:93324 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri... |
OMIM:302350 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod... |
ORPHA:193 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Supernumerary tooth, Micro... |
ORPHA:627 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... |
OMIM:613327 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, 2-3 toe syndactyly, Sin... |
OMIM:261990 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Tented upper lip vermilion, Broad hallux, Single transverse palmar crease... |
OMIM:614105 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Micrognathia |
OMIM:614498 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... |
OMIM:616812 |
Lissencephaly 8 |
|
Talipes equinovarus, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Cryptorchidism, Cleft palate, Microphthalmia |
OMIM:164180 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, H... |
OMIM:619148 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia |
ORPHA:291 |
Coach Syndrome 2 |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:619111 |
Hartsfield Syndrome |
|
Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius, Microphthalmia |
ORPHA:2117 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Optic nerve hypoplasia, Decreased response to growth hormone stimula... |
ORPHA:226307 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Cryptorchidism, Deep philtrum, 2-3... |
ORPHA:404440 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Arterial occlusion, Abnormal cardiovascular system physiology, Decreased serum creatinine |
ORPHA:289601 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration, Bowing of the legs |
OMIM:615605 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus, Microphthalmia |
OMIM:613885 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Micro... |
ORPHA:2547 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia, Tongue fasciculations |
OMIM:608800 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tachycardia, Decreased response to growth hormone stimulation test, Tapered finger... |
ORPHA:485405 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Abnormally large globe, Co... |
OMIM:269300 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Malar prominence, Microphthalmia, Camptodactyly of finger, Micrognathia |
ORPHA:48431 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent distal interphalang... |
ORPHA:1692 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Sinusitis, Elevated circulating creatine kinase concentration, Myocarditis, E... |
ORPHA:36234 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Sepsis In Premature Infants |
|
Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosi... |
ORPHA:90051 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Widely-spaced incisors |
OMIM:300915 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Dilated cardiomyop... |
OMIM:300952 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Bradycardia |
OMIM:609286 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Trisomy 13 |
|
Anophthalmia, Median cleft lip, Abnormality of the dentition, Cryptorchidism, Postaxial hand poly... |
ORPHA:3378 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Sandal gap, Pulmonary arterial hypertension, Long philtrum |
OMIM:300887 |
Glossopharyngeal Neuralgia |
|
Jaw claudication, Syncope, Bradycardia, Tongue pain, Mandibular pain, Abnormal palate morphology |
ORPHA:221098 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Bone marrow hypocellularity, Microph... |
OMIM:617244 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Prominent calcaneus, Cryptorchidism, Open mouth, Bradycardia |
ORPHA:565624 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Bilateral microphthalmos, Flared metap... |
OMIM:610758 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Schistocytosis, Elevated circu... |
OMIM:274150 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Distal upper limb muscle weakness, Elevated circulating creatinine concentration, Elevated circul... |
OMIM:620138 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly |
OMIM:615665 |
C3 Glomerulopathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:329918 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Toe syndactyly, Finger syndactyly, Cleft palate |
ORPHA:261272 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Hypopl... |
OMIM:300863 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microdontia, Cubitus valgus, Cleft upper lip, 4-5 finger syndactyly, Pr... |
OMIM:164200 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc... |
ORPHA:99826 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pulmonic stenosis, Hypophosphatemic ... |
OMIM:613312 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia, Retrognathia |
OMIM:614583 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Microphthalmia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocortico... |
ORPHA:91355 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormal palmar dermatoglyphics, Cryptorchidism, Heart murmur, Hypoplasia of teeth, Cleft palate,... |
ORPHA:2728 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Exaggerated cupid's bow, Single transverse palmar crease, Supernumerary nipple, Cleft lip, Deep p... |
OMIM:620098 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Supernumerary nipple, Cleft upp... |
OMIM:612530 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli... |
ORPHA:85450 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Bile duct proliferation, Poly... |
OMIM:603194 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, Microphthalmia, High palate, Cleft palate |
ORPHA:1135 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... |
ORPHA:139471 |
Nephronophthisis 2 |
|
Hypertension, Elevated circulating creatinine concentration, Pulmonary insufficiency, Hyperkalemia |
OMIM:602088 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac... |
ORPHA:3103 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Orofacial cleft, High palate, Camptodactyly, Microphthalmia, Clinodactyly, Re... |
OMIM:618804 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Ulnar bowing, Sho... |
OMIM:619135 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Raynaud phenomenon, Avascular necrosis of the cap... |
ORPHA:247691 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Congenital Toxoplasmosis |
|
Microphthalmia, Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:858 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Bilateral cryptorchidism, Downturned corners of mouth, Microphthalmia, A... |
OMIM:618652 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Cryptorchidism, Duplication of phalanx of hallux, Orof... |
OMIM:243310 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Pulmonary venous hypertensio... |
ORPHA:90060 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
Congenital Rubella Syndrome |
|
Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Microphthalmia, Abnormal metaphysis morphol... |
ORPHA:290 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration |
OMIM:615181 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Overlapping fingers, Overlapping toe, Cryptorchidism, High, narrow pala... |
OMIM:618494 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or... |
ORPHA:230 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, High palate, Bradycardia |
OMIM:619272 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short pal... |
OMIM:244460 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Macroglossia, Bradycardia, Ectopic thyroid, Hyperbilir... |
OMIM:218700 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Hypertension, High palate, Bradycardia, Talipes equinovarus, Han... |
OMIM:614653 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Microretrognat... |
OMIM:616300 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia... |
ORPHA:2839 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosis, Subconju... |
ORPHA:319213 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... |
ORPHA:364577 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Refsum Disease |
|
Short metacarpal, Heart block, Splenomegaly, Cardiomyopathy, Hammertoe, Abnormal epiphysis morpho... |
ORPHA:773 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Portal hypertension, Absent toe, S... |
ORPHA:974 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Micrognathia, Abnormality of... |
ORPHA:284160 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypogeusia, ... |
OMIM:223900 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... |
OMIM:147250 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Orofacial cleft |
ORPHA:324416 |
Marden-Walker Syndrome |
|
Arachnodactyly, Micrognathia, Cryptorchidism, High, narrow palate, Narrow mouth, Cleft palate, Ra... |
OMIM:248700 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Holoprosencephaly 9 |
|
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... |
OMIM:610829 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Abnormality of the hand, Cryptorchidism, Bilateral microphthal... |
ORPHA:369891 |
Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
Oslam Syndrome |
|
Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu... |
ORPHA:2760 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
46,Xy Sex Reversal 4 |
|
Micrognathia, Elevated circulating creatinine concentration, Cleft palate, High palate, Increased... |
OMIM:154230 |
Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia |
ORPHA:563609 |
Yellow Fever |
|
Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... |
ORPHA:99829 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... |
OMIM:272950 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Bohring-Opitz Syndrome |
|
Ulnar deviation of the wrist, Micrognathia, Cleft lip, Bilateral wrist flexion contracture, Cleft... |
ORPHA:97297 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Short tibia, Humeroradial synostosis, Clef... |
OMIM:251230 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... |
ORPHA:2788 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:568 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al... |
OMIM:613095 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Micrognathia, Crypt... |
OMIM:268400 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Micrognathia |
OMIM:610756 |
Stevenson-Carey Syndrome |
|
Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Hip dysplasia, Camptodactyly, M... |
OMIM:611961 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Decreased number of sweat glands, Swelling of proximal interphalangeal joints, Interphalangeal jo... |
ORPHA:69087 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Distal shortening of l... |
OMIM:146510 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Cleft palate, Microphthalmia,... |
ORPHA:85284 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Frontorhiny |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi... |
ORPHA:391474 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total... |
ORPHA:90037 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Micrognathia, Short thumb, Cryptorchidism, Long thu... |
OMIM:300895 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Persistence of prim... |
ORPHA:93325 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro... |
ORPHA:1942 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Kapur-Toriello Syndrome |
|
Overlapping fingers, Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, S... |
OMIM:244300 |
Mend Syndrome |
|
Overlapping fingers, Broad hallux, Overlapping toe, Micrognathia, Asymmetry of the mouth, Cryptor... |
ORPHA:401973 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Bilateral cryptorchidism, Carious teeth, Neutropenia, Eclabion, Microphthalmia, Lymp... |
OMIM:616395 |
Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Micrognathia, Absent distal phalanges, Short middle phalanx of f... |
OMIM:614219 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level |
OMIM:610768 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Pycnodysostosis |
|
Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence of primary teeth, Delayed er... |
OMIM:265800 |
Joubert Syndrome 37 |
|
Postaxial polydactyly, Cryptorchidism, High palate, Microphthalmia, Decreased testicular size |
OMIM:619185 |
Proximal Spinal Muscular Atrophy |
|
Hip dislocation, Elbow flexion contracture, Distal upper limb muscle weakness, Bradycardia, Tongu... |
ORPHA:70 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, High,... |
ORPHA:3472 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Abnormality of the dentition, Deep philtrum, Cleft palate, High palat... |
ORPHA:251038 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Cleft palate... |
OMIM:614230 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, High palate,... |
OMIM:618874 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:123550 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial polyd... |
OMIM:619879 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upper lip, High, narrow palat... |
OMIM:607597 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C... |
ORPHA:2092 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Absent thumb, Shor... |
OMIM:609053 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Lip pit, Hy... |
ORPHA:1236 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
Momo Syndrome |
|
Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi... |
ORPHA:2563 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Abnormality of the hand, Micrognathia, Cryptorchidism, Met... |
OMIM:234100 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Elevated circulating ... |
ORPHA:340 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epip... |
OMIM:302960 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Hypoplasia of the maxilla |
OMIM:167730 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Postaxial polydactyly, Cleft palate, Intracranial hemorrhage, Hyperte... |
OMIM:614424 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Eosinophilia, Supernume... |
ORPHA:464 |
Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the ma... |
ORPHA:861 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Micrognathia, Congestive heart failure, Cryptorchidism, Upper limb asymmetry, Cleft palate, Long ... |
ORPHA:2505 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Bile duct proliferation, Micr... |
OMIM:611134 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fu... |
OMIM:616449 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hypertension, Hyperuricemia, Hypotension, Anemia |
OMIM:174000 |
Acro-Renal-Ocular Syndrome |
|
Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Optic disc hypoplasia, Toe synda... |
ORPHA:959 |
Atelis Syndrome 2 |
|
Single transverse palmar crease, Micrognathia, Diastema, Thrombocytopenia, Thick lower lip vermil... |
OMIM:620185 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long p... |
OMIM:152950 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Short foot, Hand polydactyly, High palate, ... |
ORPHA:250989 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Micrognathia, Long fingers, Cleft palate, High palate, Hypoplastic nipples, Narrow mouth, Microph... |
OMIM:156610 |
Walker-Warburg Syndrome |
|
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal circulating cre... |
ORPHA:899 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Tapered finger, Abnormality of the dentition, Orofacial cleft, Pulmonary arteria... |
ORPHA:65286 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, ... |
OMIM:201180 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, Congestive heart failure, Cryptorchidism... |
ORPHA:2108 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... |
ORPHA:90038 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Optic disc hypoplasia, Sandal g... |
OMIM:607323 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Narrow philtru... |
OMIM:601812 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Macroglossia, Cardiom... |
ORPHA:370959 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Aplastic anemia, Single transverse palmar crease, Microgna... |
OMIM:223370 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, High palate, Single transverse palmar crease |
OMIM:619053 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Anemia |
OMIM:615085 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Arachnodactyly, Talipes equinovarus, Micrognathia |
OMIM:619036 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph... |
ORPHA:534 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Abnormality of the dentition, Conical tooth, Cryptorchidism, Microphthalmia, Broad philtrum |
ORPHA:228390 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal... |
OMIM:300166 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of... |
OMIM:618571 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Elbow dislocati... |
ORPHA:2769 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Micrognathia, Narrow mouth, Hip dislocation, Hypertension, Hypoalbuminemia, High ... |
OMIM:617729 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Micrognathia, Non-midline cleft lip, Cleft palate, Microdontia, Microph... |
ORPHA:1915 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Cryptor... |
OMIM:139210 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip morphology, Dilated c... |
ORPHA:79404 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidism, Thrombocytop... |
OMIM:603467 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... |
OMIM:610125 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Microphthalmia, ... |
OMIM:127000 |
Meckel Syndrome, Type 1 |
|
Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Cleft upper lip, Cryptorc... |
OMIM:249000 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted lower... |
OMIM:616920 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... |
ORPHA:2969 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Arachnodactyly, Broad hallux, Malar flattening, Dental malocclusion, High palate, Short finger, M... |
OMIM:601552 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe |
OMIM:615249 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cryptorchidism |
OMIM:613730 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Narrow palate, Downturned corners of mouth, Clinodactyly of the 5th finger, Microph... |
OMIM:614222 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Lip pit, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial... |
OMIM:601707 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... |
ORPHA:26793 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Asplenia, Cryptorchidism, Elbow dislocat... |
ORPHA:99776 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171420 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Hypokalemia, Goiter |
OMIM:613239 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Thrombocytopenia, Short thumb, Reticul... |
OMIM:600901 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens, Long philtrum |
ORPHA:85194 |
Papillorenal Syndrome |
|
Microphthalmia, Elevated circulating creatinine concentration, Hypertension |
OMIM:120330 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Abnormal ... |
ORPHA:411634 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Hip dysplasia, Micrognathia, Cryptorchidism |
ORPHA:494344 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:601794 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, A... |
ORPHA:2538 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:363741 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foo... |
OMIM:305600 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Cleft ... |
OMIM:617925 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Broad h... |
ORPHA:508498 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Single transverse pa... |
OMIM:620186 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Thrombocytopenia, Short thumb, Reticul... |
OMIM:227650 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Micrognathia, Cryptorchidism, Orofacial cleft, Aplasia/Hypoplasia involvin... |
ORPHA:3301 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Cleft palate |
OMIM:613456 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Down-sloping shoulder... |
OMIM:109400 |
Galloway-Mowat Syndrome 1 |
|
Micrognathia, Hypoplasia of the iris, Wide mouth, Hypoalbuminemia, Talipes equinovarus, High pala... |
OMIM:251300 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic... |
ORPHA:2470 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Hypertension, Elevated circulating creatinine concentration, Pituitary growth h... |
ORPHA:730 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Microphthalmia, Micrognathia |
OMIM:617306 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Thrombocytopenia, Short thumb, Reticul... |
OMIM:227645 |
Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Micrognathia, Cryptorchidism, Non-midline cleft lip... |
ORPHA:2059 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Arachnodactyly, Micrognathia, High palate, Bradycardia, Pulmonary i... |
OMIM:614437 |
Holoprosencephaly |
|
Hyponatremia, Anophthalmia, Median cleft lip, Bilateral cleft lip, Median cleft lip and palate, C... |
ORPHA:2162 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
Oligomeganephronia |
|
Hypertension, Elevated circulating creatinine concentration, Micrognathia |
ORPHA:2260 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Hypoplasia of the ra... |
OMIM:184705 |
Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Micrognathia, Preaxial polydactyly, Cleft palate, Wide ... |
OMIM:243605 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Thrombocytopenia, Short thumb, Preaxia... |
OMIM:227646 |
Meckel Syndrome |
|
Accessory spleen, Bowing of the long bones, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia... |
ORPHA:564 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Conical t... |
OMIM:308300 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Overlapping toe, Elevated circulating creatinine concentration, Systolic heart murmur |
OMIM:617478 |
Warburg Micro Syndrome 4 |
|
Narrow mouth, Cryptorchidism, Long philtrum, Microphthalmia, Decreased testicular size |
OMIM:615663 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Tapered finger, Micrognathia, Cryptorchidism, Long fingers, Microdontia... |
OMIM:616734 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Bilateral cryptorchidism, Short... |
OMIM:263650 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Hypoplasia of the maxilla, Bilateral microphthalmos |
ORPHA:2399 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Smooth philtrum, Severe B lymphocytopenia, Portal hypertension, Tapered finger,... |
OMIM:620005 |
Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Cryptorchidism, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the... |
OMIM:614225 |
Cockayne Syndrome B |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Splenome... |
OMIM:133540 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Microphthalmia, Retro... |
OMIM:614643 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Microcytic anemia |
OMIM:612379 |
Lowe Oculocerebrorenal Syndrome |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevated maternal serum... |
OMIM:309000 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Rodrigues Blindness |
|
Microphthalmia, Tooth malposition |
OMIM:268320 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Leukopenia, High palate, Triphalangeal thumb, Clinodacty... |
ORPHA:84 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submucous cleft hard palate... |
ORPHA:2250 |
Trisomy 18 |
|
Microretrognathia, Camptodactyly of finger, Cryptorchidism, Postaxial hand polydactyly, Non-midli... |
ORPHA:3380 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Palmar pits, Narr... |
ORPHA:77301 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration, Oral ulcer, Granulomatosis, Arteritis, Small vesse... |
ORPHA:93126 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Elevated circulating creatine kinase concentration, Cleft upper lip, Cleft palate, Buphthalmos, M... |
OMIM:613150 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:616538 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Median cleft lip, Ab... |
ORPHA:3186 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, High ... |
ORPHA:35173 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Supernumerary nipple,... |
OMIM:613884 |
Pallister-Hall Syndrome |
|
Gonadotropin deficiency, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Ac... |
ORPHA:672 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Proteus Syndrome |
|
Pulmonary embolism, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of th... |
ORPHA:744 |
Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot p... |
OMIM:264480 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Orofacial... |
ORPHA:2166 |
Hyperthyroidism, Nonautoimmune |
|
Goiter, Tachycardia, Increased circulating thyroglobulin level, Thyroid hyperplasia |
OMIM:609152 |
Fryns Syndrome |
|
Microretrognathia, Ectopic pancreatic tissue, Tented upper lip vermilion, Single transverse palma... |
OMIM:229850 |
Degcags Syndrome |
|
Micrognathia, Leukopenia, Iron deficiency anemia, High palate, Syndactyly, Congenital hypoplastic... |
OMIM:619488 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Short philtrum, Hypoparathyroidism, Arachno... |
ORPHA:567 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Widely spaced teeth, High p... |
OMIM:612474 |
Micro Syndrome |
|
Micrognathia, Cryptorchidism, High palate, Short philtrum, Microphthalmia |
ORPHA:2510 |
Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Cryptorchidism, Posta... |
ORPHA:261112 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Syndactyly, Tricus... |
OMIM:619534 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Micrognathia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, Microphtha... |
ORPHA:3412 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Micrognathia, Cleft palate, Bilateral talipes equinovarus, Bone marr... |
OMIM:614083 |
Fraser Syndrome 2 |
|
Microphthalmia, Hypoplasia of the thymus, Narrow mouth, Cutaneous syndactyly |
OMIM:617666 |
Frontofacionasal Dysplasia |
|
Microphthalmia, Non-midline cleft lip, Cleft palate |
ORPHA:1791 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Single transverse palmar crea... |
OMIM:607932 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Micrognathia, Cleft u... |
OMIM:236670 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Micrognathia, Cryptorchidism, Macular hypoplasia, Clinodactyly of t... |
OMIM:147791 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis,... |
ORPHA:449395 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m... |
ORPHA:306542 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Swollen lip, Cry... |
OMIM:256520 |
Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Micrognathia, Cleft palate, Microphthalmia, Arrhythmia |
OMIM:153400 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Cleft lip, Cryptorchidism, Dental malocclusion, Cleft palate, Hypopla... |
OMIM:603457 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, High, narrow ... |
OMIM:613406 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization |
ORPHA:891 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:77298 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Supernumerary nipple, Cleft upper lip, Cleft palate, Hypertension, Pulmonary arte... |
OMIM:100300 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Micrognathia, Cryptorchidism, Cleft lip, Furrowed tongue, Hip dysplasia, High palate,... |
OMIM:616975 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Pulmo... |
OMIM:253800 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Frontonasal Dysplasia 2 |
|
Conical tooth, Bilateral cryptorchidism, Widely spaced teeth, Microphthalmia, Broad philtrum |
OMIM:613451 |
Oculo-Palato-Cerebral Syndrome |
|
High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia |
ORPHA:2714 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Micrognathia, Narrow mouth, Cleft p... |
OMIM:309500 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Oligodontia, Microdontia, Syndactyly, T... |
OMIM:612289 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Long philtrum |
OMIM:615145 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Orofacial cleft, Foot polydactyly, Short palm, Microphthalmia |
ORPHA:268249 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Abnormality of the dentition |
ORPHA:1806 |
Trichothiodystrophy |
|
Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchidism, High, narrow palate, B... |
ORPHA:33364 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,... |
ORPHA:1587 |
Cockayne Syndrome |
|
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Splenomegaly, Crypt... |
ORPHA:191 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polyd... |
OMIM:236680 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Triangular mouth, Retrognathia, Telangiectasia |
OMIM:601675 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Orofacial cleft |
ORPHA:2328 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Cleft palate |
OMIM:257910 |
Tetraamelia Syndrome 1 |
|
Micrognathia, Asplenia, Cleft upper lip, Cleft palate, Adrenal gland agenesis, Hypoplastic pelvis... |
OMIM:273395 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Bila... |
OMIM:610828 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, High palate, Phocomelia, Wrist flexion contracture, Hyperplasia of... |
OMIM:268300 |
Joubert Syndrome 2 |
|
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, High palate |
OMIM:608091 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... |
OMIM:149730 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Single transverse palmar crease, Junctional ectopic tachycardia, Cleft palate, Histiocytoid cardi... |
OMIM:309801 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hyper... |
OMIM:609049 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia, Neutropenia |
OMIM:617248 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar crease, Microme... |
ORPHA:508488 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Abnormal palmar dermatoglyph... |
OMIM:214800 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... |
OMIM:619539 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia, Increased circulating gonadotropin level, High palate |
OMIM:110100 |
Cat Eye Syndrome |
|
Micrognathia, Absent radius, Cleft palate, Pulmonic stenosis, Microphthalmia |
OMIM:115470 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Micrognathia, Cleft palate, Acute lymphoblastic leukemia, Abnormality of th... |
ORPHA:1052 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Anophthalmia, Abnormal dental enamel morphology, Micrognathia, Dilated c... |
ORPHA:2556 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Pulm... |
OMIM:601186 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Crypto... |
ORPHA:138 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased b... |
ORPHA:90324 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cleft upper lip, Small hand, Cleft palate, Hip dysplasia, Short phi... |
ORPHA:50 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Cryptorchidism |
OMIM:613001 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid |
OMIM:606519 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, 2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, Crypto... |
ORPHA:468631 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus... |
ORPHA:141099 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Fraser Syndrome |
|
Finger syndactyly, Anophthalmia, Toe syndactyly, Dental crowding, Cleft upper lip, Cryptorchidism... |
ORPHA:2052 |
Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Cryptor... |
OMIM:206900 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, Down-sloping shoulder... |
OMIM:309800 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Sh... |
ORPHA:261537 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Elevated circulating creatine kinase concentration, Micrognathia, Buphthalmos, Hypoplasia of the ... |
OMIM:253280 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Wide mou... |
OMIM:154500 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia |
OMIM:612109 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Supernumerary nipple, Proximal placement of thumb,... |
OMIM:113620 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Preaxial hand polydactyly, Partial duplicat... |
ORPHA:857 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Wi... |
ORPHA:2152 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Orofacial cleft, Microphthalmia, Malar flattening, Bifid uvula, Hypoplasia of th... |
OMIM:229400 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, ... |
OMIM:219000 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Sh... |
ORPHA:261552 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Proximal placement of thumb, Cleft upper lip, Cleft palate, Microph... |
OMIM:304050 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Thick vermilion border, Long philtrum, Microphthalmia, Leukemia |
ORPHA:2526 |
Isolated Arrhinia |
|
Microphthalmia, Hypoplasia of the nasal bone |
ORPHA:1134 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... |
OMIM:157170 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Retina... |
OMIM:175780 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum |
ORPHA:2612 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia, Ectopic thyroid |
ORPHA:42775 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing |
OMIM:259770 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Supernumerary nipple, Cryptorchidism, Submucous cleft hard palate, Cle... |
OMIM:235730 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Partial duplication of th... |
OMIM:164210 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Thin vermilion border, Mi... |
ORPHA:649 |
Holoprosencephaly 1 |
|
Microphthalmia, Median cleft lip and palate |
OMIM:236100 |