| Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
| Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
| Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... |
ORPHA:49042 |
| Andersen-Tawil Syndrome |
|
High palate, Abnormality of the dentition, Bidirectional ventricular ectopy, Hypoplasia of the ma... |
ORPHA:37553 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Ambiguous genitalia, male, Partial development of the penile shaft, Bronchospasm, Tongue f... |
OMIM:608800 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Arrhythmia, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradyca... |
OMIM:617182 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransfe... |
OMIM:619048 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... |
ORPHA:1028 |
| Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
| Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Micropenis, Hypospadias, Dilated cardiomyopathy, Cryptorchidism, Hypertrophic cardiomyopathy, Bra... |
OMIM:618815 |
| Faciothoracogenital Syndrome |
|
Prominent scrotal raphe, Micrognathia, Glandular hypospadias, Long philtrum, Shawl scrotum, Micro... |
OMIM:227320 |
| Amelogenesis Imperfecta, Type If |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
| Mmep Syndrome |
|
Oral cleft, Median cleft lip, Microphthalmia, Mandibular prognathia, Cryptorchidism |
ORPHA:3434 |
| Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... |
ORPHA:1946 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Respiratory insufficiency, Median cleft palate, Hepatomegaly, Microphthalmia |
ORPHA:2432 |
| Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
| Paroxysmal Extreme Pain Disorder |
|
Mandibular pain, Tachycardia, Rhinorrhea, Bradycardia |
OMIM:167400 |
| Hemochromatosis, Type 1 |
|
Amenorrhea, Glucose intolerance, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypog... |
OMIM:235200 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Neonatal hypoglycemia, Hypotension, Hypoglycemia... |
OMIM:212138 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Supernumerary tooth, Abnormality of the dentition, Decreased number of s... |
ORPHA:69087 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
| Jalili Syndrome |
|
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color |
ORPHA:1873 |
| Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Macroglossia, Elevated circulating thyroid-stimulating ho... |
ORPHA:95717 |
| Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, 3-Methylglutaconic aciduria, Neutropenia, Respiratory failure, Bradycardia |
OMIM:617248 |
| Mucopolysaccharidosis, Type Ivb |
|
Wide mouth, Aortic valve stenosis, Hepatomegaly, Grayish enamel, Carious teeth, Widely spaced tee... |
OMIM:253010 |
| Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Retrognathia, Micrognathia, Anophthalmia, Microphthalmia, Cryptorchidism |
OMIM:615524 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Narrow mouth, Retrognathia, Microphthalmia, Hypogonadism |
ORPHA:2528 |
| Macrosomia With Microphthalmia, Lethal |
|
Median cleft palate, Microphthalmia |
OMIM:248110 |
| Usher Syndrome Type 2 |
|
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth |
ORPHA:231178 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Decreased circulating T4 concentration, Macroglossia, Congenital hypothyroi... |
ORPHA:226313 |
| Localized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Dental enamel pits, Abnormality of dental color |
ORPHA:251393 |
| Enamel-Renal Syndrome |
|
Abnormal dental enamel morphology, Impaired renal concentrating ability, Gingival overgrowth, Abn... |
ORPHA:1031 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Abnormality of dental morphology, Horseshoe kidney, Hyperphosphaturia, Abnorm... |
OMIM:163200 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
| Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Micrognathia, Hypoplasia of the thymus, Third degree atrioventr... |
ORPHA:40366 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
| Mucopolysaccharidosis, Type Iva |
|
Chondroitin sulfate excretion in urine, Wide mouth, Hepatomegaly, Grayish enamel, Carious teeth, ... |
OMIM:253000 |
| Timothy Syndrome |
|
Microdontia, Hypothyroidism, Hypoglycemia, Pneumonia, Thin upper lip vermilion, Prolonged QT inte... |
OMIM:601005 |
| Usher Syndrome |
|
Microdontia, Carious teeth, Abnormal cardiovascular system physiology, Abnormality of dental colo... |
ORPHA:886 |
| Alazami-Yuan Syndrome |
|
High palate, Narrow mouth, Hyperactivity, Long philtrum, Dental crowding, Cryptorchidism, Thin up... |
OMIM:617126 |
| Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Pulmonary arterial hypertension, Elevated hepatic transaminase, Bradyca... |
OMIM:616299 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cleft palate, Microdontia, Heart murmur, Widely spaced teeth, Proteinuria, Microphthalmia, Neonat... |
ORPHA:2728 |
| Acrootoocular Syndrome |
|
Anodontia, Dental malocclusion, Supernumerary tooth, High, narrow palate, Decreased response to g... |
ORPHA:2980 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cryptorchidism, Cleft palate, Oral cleft, Microphthalmia, Mandibular prognathia,... |
OMIM:601349 |
| Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmi... |
ORPHA:330001 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Pierpont Syndrome |
|
Cryptorchidism, Long upper lip, Everted lower lip vermilion, Thin vermilion border, Malar flatten... |
ORPHA:487825 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Cleft palate, Microphthalmia |
OMIM:616570 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia |
OMIM:616277 |
| Gombo Syndrome |
|
Delayed puberty, Microphthalmia |
OMIM:233270 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, Micrognathia, Bradycardia |
OMIM:614498 |
| Pierpont Syndrome |
|
Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin vermilion borde... |
OMIM:602342 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Long philtrum, Impaired glucose tolerance, Bradycardia, Atrioventricular blo... |
OMIM:614407 |
| Trimethylaminuria |
|
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Hypertension, Anemia |
OMIM:602079 |
| Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia |
OMIM:613094 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Micropenis, Tachycardia, Hemorrhagic ovarian cyst, Gingival bleeding, Decreased t... |
ORPHA:335 |
| Kohlschutter-Tonz Syndrome-Like |
|
Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Widely spaced teeth, Yellow-brown di... |
OMIM:619229 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Abnormality of the thyroid gland, Arrhythmia, Diabetes mellitus, Hypogonadism, Cardiomyopathy, Pr... |
OMIM:609286 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... |
OMIM:104570 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Micrognathia, Respiratory insufficiency, Arrhythmia, Microdontia, Bili... |
ORPHA:3191 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Abnormality of the dentition, Microphthalmia |
OMIM:251700 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... |
OMIM:616201 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Macroglossia... |
ORPHA:90674 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Micropenis, Abnormally large globe, Attention deficit hyperactivity disorder, Incr... |
OMIM:618504 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
| Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Erythrodontia, Splenomegaly, Hemolytic anemia, Pink urine, Thrombocytopenia |
OMIM:263700 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Respiratory insufficiency, Bradycardia |
OMIM:614654 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Respiratory paralysis, Increased urinary porphobilinogen, Tachycardia... |
OMIM:121300 |
| 48,Xxyy Syndrome |
|
Apnea, Asthma, Taurodontia, Infertility, Hypoplasia of penis, Cleft palate, Open bite, Hypergonad... |
ORPHA:10 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Hepatomegaly, Cerebral hemorrhage, Respiratory insufficiency... |
OMIM:617397 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Tachycardia, Elevated hepatic transaminase, Recurre... |
OMIM:613327 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Sepsis In Premature Infants |
|
Decreased liver function, Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal respiratory system p... |
ORPHA:90051 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276580 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con... |
ORPHA:465508 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:324575 |
| Warburg Micro Syndrome 1 |
|
Narrow mouth, External genital hypoplasia, Thin vermilion border, Micrognathia, Microphthalmia, C... |
OMIM:600118 |
| Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Elevated urinary epinephrine, Trismus... |
ORPHA:3299 |
| Necrotizing Enterocolitis |
|
Apnea, Leukocytosis, Peritonitis, Hypotension, Shock, Abnormal glucose homeostasis, Neutropenia, ... |
ORPHA:391673 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Hemochromatosis, Type 4 |
|
Glucose intolerance, Impotence, Hepatomegaly, Cirrhosis, Arrhythmia, Impaired glucose tolerance, ... |
OMIM:606069 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
High palate, Dental crowding, Overjet, Persistence of primary teeth, Hypodontia, Hepatomegaly, Ev... |
OMIM:618342 |
| Alström Syndrome |
|
Respiratory distress, Hyperinsulinemia, Pancreatitis, Decreased fertility in males, Abnormal live... |
ORPHA:64 |
| Sheehan Syndrome |
|
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Orth... |
ORPHA:91355 |
| Cofs Syndrome |
|
Micrognathia, Microphthalmia, Hypogonadism, Everted lower lip vermilion |
ORPHA:1466 |
| Joubert Syndrome 37 |
|
High palate, Hepatomegaly, Microphthalmia, Micropenis, Hydronephrosis, Decreased testicular size,... |
OMIM:619185 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Hypotension, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, N... |
ORPHA:70587 |
| D-Glyceric Aciduria |
|
Aminoaciduria, Micropenis, Optic nerve hypoplasia, Hypoglycemia, Neonatal respiratory distress, B... |
OMIM:220120 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Hypogonadism |
ORPHA:141333 |
| Seckel Syndrome 2 |
|
Hypospadias, Micrognathia, Microdontia, Heart murmur, Ectopic kidney, Microphthalmia, Microglossia |
OMIM:606744 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, High palate, Hypospadias, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Neutrophilia, Hepatomegaly, Hemothorax, Hepatic fail... |
ORPHA:99827 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Cholelithiasis, Testicular atrophy, Atrial flutter, Atrial fibrillation, Hy... |
OMIM:160900 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Thin vermilion border, Micrognathia, Long philtrum, Delayed eruption of teeth, Carious teeth, Rec... |
OMIM:214150 |
| 2Q24 Microdeletion Syndrome |
|
Cleft palate, Short philtrum, Central apnea, Abnormal oral frenulum morphology, Microphthalmia |
ORPHA:1617 |
| Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Macroglossia, Impair... |
ORPHA:90673 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Micrognathia, Hypogonadotropic hypogonadism, Hypoglycemia, Microphthalmia, Malar prominence |
ORPHA:48431 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276575 |
| Mucopolysaccharidosis Type 4 |
|
Wide mouth, Abnormality of the dentition, Grayish enamel, Carious teeth, Mucopolysacchariduria, A... |
ORPHA:582 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Congenital aphakia, Hepatomegaly, M... |
ORPHA:137675 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Microphthalmia, Anemia, Lymphadeno... |
ORPHA:858 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, R... |
ORPHA:2470 |
| Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea, Thin vermilion border, Bradycardia |
OMIM:610015 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Uraciluria, Microphthalmia |
OMIM:274270 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Microphthal... |
ORPHA:290 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Chronic kidney disease, Chronic pulmonary obstructio... |
ORPHA:439232 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Bilateral breast hyp... |
ORPHA:52901 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Persistent fetal circulation, Thrombocytopenia, Hyperventilation, Hypertrophic ca... |
OMIM:618775 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:164180 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Dilated cardiomyopathy, Microcytic anemia, Elevated circulating alani... |
OMIM:618805 |
| Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Hyperactivity, Retrognathia, Micrognathia, Cario... |
OMIM:613684 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Open mouth, Cryptorchidism, Neonatal hypoglycemia, Bradycardia |
ORPHA:565624 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Tented upper lip vermilion, Open mouth, Dental crowding, Mandibular prognathia, Ma... |
OMIM:300143 |
| Osteogenesis Imperfecta |
|
Nephrolithiasis, Dental malocclusion, Dentinogenesis imperfecta, Cerebral hemorrhage, Abnormality... |
ORPHA:666 |
| Trisomy 13 |
|
Microphthalmia, High, narrow palate, Cleft palate, Malar flattening, Abnormality of the dentition... |
ORPHA:3378 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... |
OMIM:614022 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Narrow mouth, Cleft palate, Hypospadias, Micrognathia, Microdontia, Carious teeth, Microphthalmia... |
OMIM:616734 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Micrognathia, Microphthalmia |
OMIM:616171 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Diffuse... |
ORPHA:276556 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Malar flattening, Hypospadias, Congenital hypothyroidism, Diabetes mellitus, Mandi... |
OMIM:614613 |
| Moebius Syndrome |
|
Respiratory distress, High palate, Micropenis, Abnormality of the dentition, Micrognathia, Hypogo... |
OMIM:157900 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Prolonged neonatal jaundice, Dec... |
ORPHA:226307 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
| Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
| Xk Aprosencephaly Syndrome |
|
Narrow mouth, Abnormal external genitalia, Microphthalmia |
ORPHA:3469 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Cleft lip, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| 16P12.1P12.3 Triplication Syndrome |
|
Wide mouth, Hyperactivity, Decreased response to growth hormone stimulation test, High, narrow pa... |
ORPHA:485405 |
| 48,Xxxy Syndrome |
|
Asthma, Infertility, Taurodontia, Type II diabetes mellitus, Hypoplasia of penis, Cleft palate, O... |
ORPHA:96263 |
| Bresek Syndrome |
|
Cleft palate, Optic nerve hypoplasia, Renal hypoplasia, Decreased testicular size, Microphthalmia... |
ORPHA:85284 |
| Baraitser-Winter Syndrome 1 |
|
Cleft upper lip, Wide mouth, Aortic valve stenosis, Micropenis, Retrognathia, Long philtrum, Oral... |
OMIM:243310 |
| Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Ovarian neoplasm, Macrodontia, Mic... |
OMIM:617883 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Gingival overgrowth, Hyperactivity, Microphthalmia, Bifid scrotum, Pulmonic stenosis... |
OMIM:619148 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Cleft palate, Hypospadias, Micrognathia, Long philtrum, Microphthalmia, Cryptorchidism, Abnormali... |
ORPHA:2505 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Wide mouth, Hyperactivity, Macroglossia, Micropenis, Hypospadias, Decreased testicular size, Hypo... |
OMIM:300354 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Hematuria, Cleft palate, Microphthalmia |
OMIM:120433 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Oral cleft |
OMIM:611638 |
| Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
| Premature Ovarian Failure 12 |
|
Primary amenorrhea, Microphthalmia |
OMIM:616947 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
High palate, Tooth agenesis, Cleft palate, Hypogonadotropic hypogonadism, Microphthalmia |
ORPHA:1135 |
| Congenital Erythropoietic Porphyria |
|
Erythrodontia, Splenomegaly, Anisocytosis, Leukopenia, Increased urinary porphobilinogen, Purple ... |
ORPHA:79277 |
| Hydrolethalus |
|
Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Anophthalmia, Bifid uvula, Abnormal fal... |
ORPHA:2189 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Exocrine pancreatic insufficiency, Severe B lymphocytopenia,... |
OMIM:620005 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Hepatoerythropoietic Porphyria |
|
Erythrodontia, Splenomegaly, Purple urine, Red-brown urine, Hemolytic anemia, Red urine, Erythroi... |
ORPHA:95159 |
| Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Hypoplasia of the maxilla, T... |
ORPHA:861 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Lymphopenia, Leukocytosis, Nonproductive cough, Leukopenia, Crackles, Fulmi... |
ORPHA:319213 |
| 47,Xyy Syndrome |
|
Asthma, Increased serum testosterone level, Hyperactivity, Cryptorchidism, Malar flattening, Micr... |
ORPHA:8 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Hydroureter, Hypoplasia of penis, Microphthalmia |
ORPHA:2547 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
High palate, Ketonuria, Hepatomegaly, Renal hypoplasia, Microphthalmia, Neonatal respiratory dist... |
OMIM:619053 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Microphthalmia, External genital hypoplasia, Hypogonadism |
ORPHA:363741 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Left ... |
ORPHA:563 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Micrognathia, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:221950 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cleft palate, Micrognathia, Long philtrum, Bifid uvula, Downturned corners of mouth, Deep philtru... |
ORPHA:404440 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
| Illum Syndrome |
|
Whistling appearance, Apnea, Pierre-Robin sequence, Bradycardia |
OMIM:208155 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Oral ... |
OMIM:613987 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Cryptorchidism, Abnormality of the dentition, Conical tooth, Hypogonadism, Broad ... |
ORPHA:228390 |
| 49,Xxxxy Syndrome |
|
Asthma, Infertility, Taurodontia, Type II diabetes mellitus, Hypoplasia of penis, Cleft palate, O... |
ORPHA:96264 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Short philtrum, Downturned corners of mouth, Ambiguous genitalia, Microphthalmia |
ORPHA:93267 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism |
OMIM:618165 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Apnea, Bradycardia |
OMIM:619814 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
High palate, Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensit... |
OMIM:308700 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Downturned corners of mouth, Microphthalmia, Bilateral cryptorchidism, S... |
OMIM:618652 |
| Kallmann Syndrome With Spastic Paraplegia |
|
High palate, Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Unilatera... |
OMIM:308750 |
| Gracile Bone Dysplasia |
|
Micropenis, Hypoplastic spleen, Microphthalmia, Ankyloglossia, Aniridia, Asplenia |
OMIM:602361 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Malar flattening, Everted lower lip vermilion, Macrodontia, T... |
ORPHA:228402 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Cleft palate, Sudden cardiac death, Elevated circulating aspartate aminotransferase... |
OMIM:614921 |
| Braddock-Carey Syndrome 2 |
|
Wide mouth, Cleft palate, Retrognathia, Microphthalmia, Pierre-Robin sequence, Thrombocytopenia |
OMIM:619981 |
| Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dyspnea... |
OMIM:615745 |
| Martsolf Syndrome 1 |
|
High palate, Tooth malposition, Tracheomalacia, Micropenis, Micrognathia, Short philtrum, Hypogon... |
OMIM:212720 |
| Coffin-Siris Syndrome 2 |
|
High palate, Wide mouth, Hyperactivity, Cleft palate, Macroglossia, Short philtrum, Long philtrum... |
OMIM:614607 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Graves disease, Hepatomegaly, Sinus tachyca... |
ORPHA:525731 |
| Marburg Hemorrhagic Fever |
|
Pancreatitis, Reticulocytosis, Pericarditis, Jaundice, Lymphadenopathy, Tachycardia, Elevated hep... |
ORPHA:99826 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Microphthalmia, Eclabion, Carious teeth, Natal tooth, Neutropenia, Bilateral cryptor... |
OMIM:616395 |
| Monosomy 18P |
|
Tooth malposition, Cleft palate, Hypodontia, Micrognathia, Short philtrum, Carious teeth, Downtur... |
ORPHA:1598 |
| Meckel Syndrome, Type 5 |
|
Cleft upper lip, Cleft palate, Renal cyst, Microphthalmia, Bile duct proliferation |
OMIM:611561 |
| Warburg Micro Syndrome 3 |
|
Narrow palate, Micropenis, Micrognathia, Downturned corners of mouth, Hypoplastic labia minora, D... |
OMIM:614222 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Hyperactivity, Cirrhosis, Insulin resistance, Hypertension, Hepat... |
ORPHA:363400 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Seckel Syndrome 1 |
|
High palate, Dental malocclusion, Hyperactivity, Cleft palate, Abnormally large globe, Hypospadia... |
OMIM:210600 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Ureteral obstruction, Urinary retention, Pneumonia, Erosion of oral mucosa,... |
ORPHA:79404 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Apnea, Annular pancreas, Cleft palate, Retrognathia, Micrognathia, Urinary retent... |
ORPHA:97297 |
| Meckel Syndrome |
|
Urethral atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Micrognath... |
ORPHA:564 |
| Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Micropenis, Retrognathia, Hypospadias, Micrognathia, Ureteral duplication, Shawl s... |
OMIM:617516 |
| Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Micrognathia, Attention deficit hyperactivity disorder, Microphthalmia, Cryptorchidi... |
ORPHA:494344 |
| Fanconi Anemia, Complementation Group G |
|
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Microphthalmia, Hypogonadism |
OMIM:601794 |
| Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Hydroureter, Neurogenic bladder, Thrombocytopenia, Hypo... |
OMIM:222300 |
| Warburg Micro Syndrome 4 |
|
Narrow mouth, Micropenis, Long philtrum, Decreased testicular size, Microphthalmia, Cryptorchidis... |
OMIM:615663 |
| Meckel Syndrome 14 |
|
Microretrognathia, Tricuspid regurgitation, Retrognathia, Mitral regurgitation, Micrognathia, Pne... |
OMIM:619879 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Asthma, Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenom... |
OMIM:612714 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, ... |
OMIM:305400 |
| Fragile X Syndrome |
|
Mandibular prognathia, Macroorchidism, postpubertal, Hyperactivity, Congenital macroorchidism |
OMIM:300624 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Attention deficit hyperactivity disorder, Microphthalmia |
OMIM:617914 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Aspiration pneumonia, Urinary incontinence, Tachycardia, Pulmonary embolism, Arrhyt... |
ORPHA:94093 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Precocious puberty, Hyperactivity, Unilateral renal agenesis, Short philtrum, Gonada... |
ORPHA:3306 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Micrognathia, Microphthalmia, Small scrotum, Micropenis |
OMIM:610756 |
| 19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Hyperactivity, Hypodontia, Cleft palate, Thin vermilion border, Hypospadias, ... |
ORPHA:254346 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Marden-Walker Syndrome |
|
High palate, Narrow mouth, High, narrow palate, Cleft palate, Micropenis, Hypospadias, Micrognath... |
OMIM:248700 |
| Hallermann-Streiff Syndrome |
|
Abnormality of the tongue, Narrow mouth, Supernumerary tooth, High, narrow palate, Malar flatteni... |
ORPHA:2108 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia |
ORPHA:542306 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypoplasia of penis, Cleft palate, Tooth malposition, Failure of eruption of perm... |
ORPHA:2250 |
| Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Pulmonic stenosis, Micrognath... |
OMIM:601186 |
| Mend Syndrome |
|
High palate, Aortic valve stenosis, Microretrognathia, Hyperactivity, Cryptorchidism |
OMIM:300960 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hypotension, Shortened PR interval, Bradycardia, Neonatal hypoglycemia, Cardiomyopa... |
OMIM:261740 |
| Microphthalmia, Syndromic 5 |
|
Cleft palate, Micropenis, Optic nerve hypoplasia, Anophthalmia, Ectopic posterior pituitary, Micr... |
OMIM:610125 |
| Developmental And Epileptic Encephalopathy 1 |
|
Dyspnea, Microphthalmia, Micropenis |
OMIM:308350 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Microphthalmia, Cleft palate, Respiratory insufficiency, Bifid tongue, Lobulat... |
OMIM:616300 |
| Hallermann-Streiff Syndrome |
|
High palate, Microphthalmia, Selective tooth agenesis, Hyperactivity, High, narrow palate, Trache... |
OMIM:234100 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Malar flattening, Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and pa... |
OMIM:618874 |
| Mosaic Trisomy 9 |
|
High palate, Hypoplasia of penis, Cleft palate, Abnormal liver lobulation, Micrognathia, Multiple... |
ORPHA:99776 |
| Microphthalmia, Syndromic 13 |
|
Diastema, Microphthalmia |
OMIM:300915 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cleft upper lip, Supernumerary nipple, Cleft palate, Short philtrum, Deep philtrum, ... |
OMIM:612530 |
| Proximal Spinal Muscular Atrophy |
|
Tongue fasciculations, Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventil... |
ORPHA:70 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
High palate, Apnea, Tachycardia, Retinal hemorrhage, Aspiration, Open mouth, Neonatal respiratory... |
OMIM:614653 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Baraitser-Winter Syndrome 2 |
|
Wide mouth, Retrognathia, Long philtrum, Oral cleft, Microphthalmia, Thin upper lip vermilion |
OMIM:614583 |
| Glossopharyngeal Neuralgia |
|
Mandibular pain, Syncope, Tongue pain, Abnormal palate morphology, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, High palate, Hyperactivity, Micropenis, Micrognathia, Diastema, Furrowed tongue, ... |
OMIM:300534 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Wide mouth, Hyperactivity, Macroglossia, Downturned corners of mouth, Widely spaced ... |
ORPHA:369891 |
| Holoprosencephaly 9 |
|
Cleft upper lip, Dental malocclusion, Hypoplasia of the premaxilla, Decreased response to growth ... |
OMIM:610829 |
| Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Agenesis of pineal gland, Cleft palate, Microphthalmia |
OMIM:614402 |
| Refsum Disease |
|
Splenomegaly, Respiratory insufficiency, Renal insufficiency, Microphthalmia, Heart block, Cardio... |
ORPHA:773 |
| 3Q29 Microdeletion Syndrome |
|
High palate, Everted lower lip vermilion, Hypospadias, Abnormality of the dentition, Short philtr... |
ORPHA:65286 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... |
OMIM:257850 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Widely spaced teeth, Micrognathia, Microdontia, Microphthalmia |
OMIM:619694 |
| Micro Syndrome |
|
High palate, Microphthalmia, Hypoplasia of penis, Micrognathia, Short philtrum, Clitoral hypoplas... |
ORPHA:2510 |
| Proteus-Like Syndrome |
|
Splenomegaly, Open bite, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ova... |
ORPHA:2969 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating th... |
OMIM:218700 |
| Cri-Du-Chat Syndrome |
|
High palate, Microretrognathia, Hyperactivity, Hypospadias, Short philtrum, Anterior open-bite ma... |
OMIM:123450 |
| Myoclonic-Astatic Epilepsy |
|
Wide mouth, Hyperactivity, Long philtrum, Attention deficit hyperactivity disorder, Microphthalmi... |
ORPHA:1942 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Smooth philtrum, Microphthalmia |
OMIM:602501 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
| Joubert Syndrome 14 |
|
Microphthalmia, Malar flattening, Short philtrum, Renal cyst, Tented upper lip vermilion, Open mo... |
OMIM:614424 |
| Temtamy Syndrome |
|
Abnormal palate morphology, Micrognathia, Microphthalmia, Thick lower lip vermilion |
ORPHA:1777 |
| 8Q21.11 Microdeletion Syndrome |
|
High palate, Narrow mouth, Hypoplasia of penis, Abnormality of the dentition, Short philtrum, Mic... |
ORPHA:284160 |
| Microphthalmia, Lenz Type |
|
Hypospadias, Hydroureter, Abnormality of the dentition, Delayed eruption of teeth, Oral cleft, Hy... |
ORPHA:568 |
| Snakebite Envenomation |
|
Respiratory paralysis, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cere... |
ORPHA:449285 |
| Bone Marrow Failure Syndrome 3 |
|
Exocrine pancreatic insufficiency, Hyperactivity, Hypodontia, Micrognathia, Aplastic anemia, Micr... |
OMIM:617052 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Long philtrum, Deep philtrum, Attention deficit hyperactivity disorder, Microphthalmia, Mandibula... |
OMIM:152950 |
| Bosma Arhinia Microphthalmia Syndrome |
|
High palate, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Micropenis, Hypospadi... |
OMIM:603457 |
| Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Renal cyst, Cleft palate, Microphthalmia |
OMIM:603194 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Microphthalmia, High, narrow palate, Male urethral meatus stenosis, Cleft palate,... |
ORPHA:464738 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Asthma, Wide mouth, Hyperactivity, Hypospadias, Long philtrum, Open mouth, Neonatal hypoglycemia,... |
ORPHA:457485 |
| Hartsfield Syndrome |
|
Respiratory insufficiency, Microphthalmia, Cleft palate, Non-midline cleft lip |
ORPHA:2117 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Gingival overgrowth, Narrow mouth, Narrow palate, Hyperactivity, Malar flattenin... |
OMIM:235510 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
| Holoprosencephaly |
|
Median cleft lip and palate, Solitary median maxillary central incisor, Proteinuria, Microphthalm... |
ORPHA:2162 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Micrognathia, Delayed eruption of teeth, Hypoglycemia, Attention deficit hyperacti... |
ORPHA:73272 |
| Potocki-Lupski Syndrome |
|
High palate, Sleep apnea, Wide mouth, Dental malocclusion, Hyperactivity, Micrognathia, Hypothyro... |
OMIM:610883 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Frontonasal Dysplasia 1 |
|
Median cleft palate, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Median cleft lip, Mi... |
OMIM:136760 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Yellow Fever |
|
Supraventricular arrhythmia, Hematemesis, Neutrophilia, Leukocytosis, Pancreatic hyperplasia, Ele... |
ORPHA:99829 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Aspiration, Bradycardia |
OMIM:610768 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Leukopenia, Renal hypoplas... |
OMIM:603467 |
| Nance-Horan Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia, Microphthalmia |
ORPHA:627 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Cheilitis, Abnormality of the dentition, Hem... |
ORPHA:534 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:613885 |
| Dubowitz Syndrome |
|
High palate, Velopharyngeal insufficiency, Hyperactivity, Hypospadias, Micrognathia, Agenesis of ... |
OMIM:223370 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, High palate, Supernumerary tooth, Cryptorchidism, Microphthalmia, Micrognathia,... |
OMIM:268400 |
| Microphthalmia With Brain And Digit Anomalies |
|
High palate, Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Microphthalmia, Crypto... |
ORPHA:139471 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Narrow mouth, Micrognathia, Multicystic kidney dysplasia, Oral cleft, Septo-optic dysplasia, Micr... |
ORPHA:3301 |
| 19P13.3 Microduplication Syndrome |
|
Narrow mouth, Precocious puberty, Hyperactivity, Cleft palate, Micrognathia, Short philtrum, Unil... |
ORPHA:447980 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos |
OMIM:608763 |
| Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ... |
OMIM:147250 |
| Intellectual Disability, Birk-Barel Type |
|
Hyperactivity, High, narrow palate, Micrognathia, Short philtrum, Broad philtrum, Tented upper li... |
ORPHA:166108 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Malar flattening, Oligodontia, Cryptorchidism, Thin upper lip vermilion, Obstructi... |
ORPHA:412035 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Bilateral cleft lip and palate, Hematuria, Microphthalmia |
ORPHA:1473 |
| Cohen Syndrome |
|
Gingival overgrowth, Tooth agenesis, Microphthalmia, Aplasia/Hypoplasia of the tongue, High, narr... |
ORPHA:193 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
High palate, Cleft palate, Micropenis, Micrognathia, Short philtrum, Downturned corners of mouth,... |
OMIM:614230 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
| 3P25.3 Microdeletion Syndrome |
|
High, narrow palate, Cleft palate, Pulmonic stenosis, Micrognathia, Short philtrum, Downturned co... |
ORPHA:435638 |
| Oculofaciocardiodental Syndrome |
|
Tooth malposition, Cleft palate, Abnormality of the dentition, Oligodontia, Long philtrum, Delaye... |
ORPHA:2712 |
| Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Renal cyst, Cleft palate, Microphthalmia |
OMIM:611134 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:601494 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidne... |
ORPHA:79259 |
| Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... |
ORPHA:552 |
| Fryns Syndrome |
|
High palate, Wide mouth, Microphthalmia, Bicornuate uterus, Cleft palate, Hypospadias, Micrognath... |
ORPHA:2059 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Splenomegaly, Tachycardia, Autoimmune hemolytic anemia, Exertional dyspne... |
ORPHA:90037 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... |
ORPHA:263455 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Oral cleft |
ORPHA:324416 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Proteinuria, Pneumonia, Po... |
ORPHA:2298 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Persistence of primary tee... |
OMIM:259710 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Micropenis, Short philtrum, Mandibular prognathia, Cryptorchidism, Thin upper lip ... |
OMIM:300486 |
| Seckel Syndrome 10 |
|
Glucose intolerance, Microretrognathia, Elevated hemoglobin A1c, Elevated circulating luteinizing... |
OMIM:617253 |
| Pallister-Hall Syndrome |
|
Cleft upper lip, Distal urethral duplication, Precocious puberty, Decreased response to growth ho... |
OMIM:146510 |
| Cockayne Syndrome B |
|
Dental malocclusion, Hepatomegaly, Microphthalmia, Splenomegaly, Micropenis, Arrhythmia, Carious ... |
OMIM:133540 |
| Adams-Oliver Syndrome 2 |
|
Micrognathia, Microphthalmia |
OMIM:614219 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Pulmonic stenosis, Retrognathia, Micrognathia, Renal hypoplasia, Microphthalmia, Mandibular progn... |
OMIM:618914 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Horseshoe kidney, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Microphthalmia |
ORPHA:195 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Hyperactivity, Increased circulating... |
OMIM:275000 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Macroorchidism, Congestive heart failure |
ORPHA:3077 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... |
ORPHA:216694 |
| Meckel Syndrome, Type 1 |
|
Wide mouth, Ambiguous genitalia, female, External genital hypoplasia, Cleft palate, Abnormality o... |
OMIM:249000 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Dyskeratosis Congenita |
|
Telangiectasia of the skin, Hepatomegaly, Hepatic failure, Abnormality of the dentition, Carious ... |
ORPHA:1775 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Anophthalmia, Microphthalmia, Cryptorchidism |
ORPHA:77298 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Splenomegaly, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolyt... |
ORPHA:90033 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Pelvic kidney, Neutropenia, Microphthalmia, Cryptorchidism, Micropenis, Hypergo... |
OMIM:227646 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Ambiguous genitalia, Clitoral hypertrophy, Microphthalmia, Respiratory fail... |
ORPHA:2556 |
| Ritscher-Schinzel Syndrome 3 |
|
Micrognathia, Cryptorchidism, Thin upper lip vermilion, Microphthalmia |
OMIM:619135 |
| Mosaic Trisomy 1 |
|
Wide mouth, Renal cortical cysts, Microretrognathia, Cleft palate, Micropenis, Oral cleft, Penile... |
ORPHA:1692 |
| Kapur-Toriello Syndrome |
|
Cleft upper lip, Cleft palate, Micropenis, Microphthalmia, Cryptorchidism, Hypoplastic labia majora |
OMIM:244300 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Hy... |
OMIM:609053 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Microphthalmia |
OMIM:609054 |
| Warburg Micro Syndrome 2 |
|
Small scrotum, Micropenis, Microphthalmia, Cryptorchidism, Hypoplastic labia majora |
OMIM:614225 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
High palate, Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Ab... |
ORPHA:1772 |
