| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Apnea, Elevated circulating aspartate aminotransfe... |
OMIM:619048 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Cardiorespiratory arrest, Strido... |
OMIM:608800 |
| 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 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Micropenis, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate, Respiratory insufficiency, Hepatomegaly |
ORPHA:2432 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... |
OMIM:235200 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Mandibular pain, Bradycardia, Rhinorrhea |
OMIM:167400 |
| Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Microphthalmia |
ORPHA:3434 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Cardiac arrest,... |
OMIM:212138 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel... |
ORPHA:69087 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Bradycardia, Respiratory insufficiency, Dysph... |
OMIM:620265 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia |
ORPHA:251393 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... |
ORPHA:2980 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Respiratory insufficiency, Dysphagia |
OMIM:616276 |
| Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Myopathy, Myofibrillar, 1 |
|
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr... |
OMIM:601419 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus, Microphthalmia, Retr... |
OMIM:615524 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism, High palate, Narrow mouth, Microphthalmia, Retrognathia |
ORPHA:2528 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Micrognathia, High palate, Bradycardia, Third degree atriovent... |
ORPHA:40366 |
| Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Lacticaciduria, Alaninuria, Bradycardia, Decreased liver function,... |
OMIM:616299 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Increased circulating osteocalcin level, Abnormality of dental color, ... |
ORPHA:1031 |
| Usher Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Abnormal cardiovas... |
ORPHA:886 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Stereotypical hand wringing, Dysphagia, Widely spaced t... |
OMIM:619229 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Congenital ... |
ORPHA:226313 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Bronchoconstriction, Recurren... |
OMIM:253000 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Wide mouth, Restrictive venti... |
OMIM:253010 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Crackles, Congestive heart failure, Atriovent... |
ORPHA:60041 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
| Timothy Syndrome |
|
Prolonged QT interval, Thin upper lip vermilion, Hypoglycemia, Pneumonia, Ventricular tachycardia... |
OMIM:601005 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Thick lower lip vermilion, Atrioventricular block, Glucose intoleranc... |
OMIM:614407 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Proteinuria, Cryptorchidism, Neonatal asphyxia, Cleft palate, Hypoplasia of teeth,... |
ORPHA:2728 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Abnormality of dental color, Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
| Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... |
OMIM:601349 |
| Cln3 Disease |
|
Aggressive behavior, Vacuolated lymphocytes, Increased circulating androgen concentration, T-wave... |
ORPHA:228346 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Apnea, Bradycardia, Respiratory failure |
OMIM:616277 |
| Alazami-Yuan Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Narrow mouth, Cryptorchidism, High pala... |
OMIM:617126 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Thick vermilion bord... |
OMIM:309548 |
| Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Cryptorchidism, Thin vermilion border, Widely spaced t... |
ORPHA:487825 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Abnormal oral glucose tolerance, Hyperinsulinemia, ... |
ORPHA:276580 |
| Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of th... |
ORPHA:324575 |
| Pierpont Syndrome |
|
Smooth philtrum, Cryptorchidism, Micropenis, Prominent median palatal raphe, Thin vermilion borde... |
OMIM:602342 |
| Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Premature ovarian insufficiency, Diabetes mellitus, Abnormality of the thyroid gland, Cardiomyopa... |
OMIM:609286 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, H... |
OMIM:160900 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
| Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
| 48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnorm... |
ORPHA:10 |
| Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Hemolytic anemia, Erythrodontia, Splenomegaly, Jaundice, Red urine, Cholelithiasis,... |
OMIM:263700 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... |
ORPHA:2791 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Splenic rupture, Gingival bleed... |
ORPHA:335 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Hyperactivity, Dental crowding, Micrognathia, Persistence of primary teeth, Aggress... |
OMIM:618342 |
| Tetanus |
|
Respiratory distress, Tachycardia, Elevated urinary norepinephrine level, Trismus, Tachypnea, Ele... |
ORPHA:3299 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Mandibular prognathia, Hyperactivity, Impulsivity, Micrognathia, Aggressive behavior, Cryptorchid... |
OMIM:604317 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dysplasia |
OMIM:613730 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillat... |
OMIM:613327 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Biliary tract abnormality, Respiratory insufficiency, Type II diabetes mellitus, Mi... |
ORPHA:3191 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge... |
OMIM:121300 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... |
OMIM:617397 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Type I diabetes mell... |
ORPHA:276575 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| D-Glyceric Aciduria |
|
Neonatal respiratory distress, Hypoglycemia, Optic nerve hypoplasia, Tongue thrusting, Aminoacidu... |
OMIM:220120 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Splenomegaly, Jaundice, Leukocytosis, ... |
ORPHA:90051 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Cleft palate, Micrognathia |
OMIM:616570 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Cholecystitis, Int... |
ORPHA:99827 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Impotence, Glucose i... |
OMIM:606069 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy... |
ORPHA:465508 |
| Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati... |
ORPHA:64 |
| Necrotizing Enterocolitis |
|
Shock, Apnea, Peritonitis, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Abnormal glucose ... |
ORPHA:391673 |
| Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Micrognathia, Cryptorchidism, Thin vermilion border, Narrow mouth, M... |
OMIM:600118 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Cryptorchidism, Hydronephrosis, High palate, Microphthalmia, Micropenis, Decreased ... |
OMIM:619185 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| 2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Macrodontia, Hyperactivity, Cryptorchidism, Poly... |
ORPHA:228402 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Dental crowding, Impulsivity, M... |
OMIM:300143 |
| Cofs Syndrome |
|
Hypogonadism, Microphthalmia, Everted lower lip vermilion, Micrognathia |
ORPHA:1466 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Insulin resistance, Recur... |
OMIM:214150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Hypospadias, High palate, Bradycardia, Pulmonary arterial hypertension |
OMIM:619272 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
| Seckel Syndrome 2 |
|
Hypospadias, Micrognathia, Ectopic kidney, Heart murmur, Microdontia, Microphthalmia, Microglossia |
OMIM:606744 |
| 2Q24 Microdeletion Syndrome |
|
Central apnea, Cleft palate, Abnormal oral frenulum morphology, Short philtrum, Microphthalmia |
ORPHA:1617 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Microph... |
ORPHA:858 |
| 16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Tachycardia, Hyperactivity, Decreased response to growth hormone stimulation test, B... |
ORPHA:485405 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pleural effusion, Hypertrophic cardiomyopathy, Hypoglycemia, Bradycardia |
OMIM:614702 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, Bradycardia, Micrognathia |
OMIM:614498 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H... |
ORPHA:137675 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Microphthalmia, Uraciluria |
OMIM:274270 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Malar prominence, Micrognathia, Microphthalmia |
ORPHA:48431 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... |
ORPHA:439232 |
| Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Thin vermilion border, Apnea, Bradycardia |
OMIM:610015 |
| Moebius Syndrome |
|
Decreased testicular size, Respiratory distress, Hypogonadotropic hypogonadism, Abnormality of th... |
OMIM:157900 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... |
ORPHA:2470 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Neonatal hypoglycemia, Left axis deviation, C... |
OMIM:261740 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... |
ORPHA:582 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Open mouth, Bradycardia, Neonatal hypoglycemia |
ORPHA:565624 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Aplasia/Hypoplasia of the iris, Type I di... |
ORPHA:290 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia |
ORPHA:141333 |
| Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Aortic regurgitation, Abnormality of dental color, Neonatal respirator... |
ORPHA:666 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Respiratory insufficiency |
OMIM:614654 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Microcytic anemia, Elevated circulating alanine aminotra... |
OMIM:618805 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration... |
ORPHA:90673 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Normochromic anemia, Bradycardia, Cholelithiasis, Hypertrophic card... |
OMIM:618775 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cleft palate, Cryptorchidism |
OMIM:164180 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Shock, Renal insufficiency, Lymphopenia, Respiratory distress, Cra... |
ORPHA:319213 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
| Trisomy 13 |
|
Anophthalmia, Median cleft lip, Displacement of the urethral meatus, Abnormality of the dentition... |
ORPHA:3378 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal de... |
ORPHA:96263 |
| Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal de... |
ORPHA:96264 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Micrognathia, Cryptorchidism, Deep philtrum, Cleft palate, Downturned c... |
ORPHA:404440 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Bifid scrotum, Tented upper lip vermilion, Hyposp... |
OMIM:619148 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Meg... |
OMIM:222300 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leukoplakia, Throm... |
OMIM:613987 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Neonatal respiratory distress, Ketonuria, Renal hypoplasia, High palate, Microphtha... |
OMIM:619053 |
| Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Nonproductive cough, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, R... |
ORPHA:99826 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Fragile X Syndrome |
|
Mandibular prognathia, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand f... |
OMIM:300624 |
| Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Dental crowding, Micrognathia, Respiratory insufficiency, High palate, B... |
OMIM:620351 |
| Hydrolethalus |
|
Anophthalmia, Micrognathia, Cryptorchidism, Submucous cleft hard palate, Gingival cleft, Cleft pa... |
ORPHA:2189 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Bilatera... |
ORPHA:369891 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Cleft palate, Vesicoureteral reflux, Mi... |
ORPHA:85284 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Cryptorchidism, Orofacial cleft, Micropenis, Wide mout... |
OMIM:243310 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft |
OMIM:611638 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Impulsivity, Micrognathia, Aggressive behavior, Lens coloboma, Renal hypop... |
OMIM:618914 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Illum Syndrome |
|
Whistling appearance, Pierre-Robin sequence, Apnea, Bradycardia |
OMIM:208155 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Precocious puberty, Cryptorchidism... |
ORPHA:3306 |
| Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft upper lip, Cleft palate, Polycystic kidney dysplasia, Ambiguous genitalia, Mi... |
OMIM:613885 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High p... |
ORPHA:861 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Red-brown urine, Po... |
ORPHA:79277 |
| Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... |
ORPHA:563 |
| Fanconi Anemia, Complementation Group S |
|
Macrodontia, Dental malocclusion, Narrow palate, Ovarian neoplasm, Ovarian carcinoma, Microphthal... |
OMIM:617883 |
| Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivi... |
ORPHA:494344 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia, Narrow mouth |
ORPHA:3469 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Micrognathia, Congestive heart failure, Cryptorchidism, Cleft palate,... |
ORPHA:2505 |
| Developmental And Epileptic Encephalopathy 1 |
|
Dyspnea, Microphthalmia, Micropenis, Dysphagia |
OMIM:308350 |
| Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Erythrodontia, Splenomegaly, Red urine, Red-brown urine, Erythroid hyperplasia,... |
ORPHA:95159 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Cough, Microdontia, Hypothyroidism, Acc... |
OMIM:620005 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Micrognathia |
OMIM:616171 |
| Pediatric-Onset Graves Disease |
|
Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Hepatomegaly, Hyperac... |
ORPHA:525731 |
| Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism... |
ORPHA:94093 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Cleft palate, Tooth agenesis, High palate, Microphthalmia |
ORPHA:1135 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Unilateral renal agenesis, High, narrow palate, Cryptorchidism, Renal h... |
OMIM:618494 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis, Hydroureter, Micrognathia |
ORPHA:2547 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Congenital ... |
OMIM:614613 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Apnea, Bradycardia |
OMIM:619814 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Self-mutilati... |
OMIM:123450 |
| Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia, Thrombocytopenia |
OMIM:619981 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Bilateral cryptorchidism, Downturned corners of mouth, Microphthalmia, S... |
OMIM:618652 |
| Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Bilateral cryptorchidism, Neutropenia, Eclabion, Microphthalmia, Lymp... |
OMIM:616395 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Jaw claudication, Syncope, Bradycardia, Tongue pain, Mandibular pain, ... |
ORPHA:221098 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Downturned corners of mouth, Short philtrum, Ambiguous genitalia, Microphthalmia |
ORPHA:93267 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Decreased circul... |
OMIM:241410 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... |
OMIM:619827 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism |
ORPHA:363741 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Ankyloglossia |
OMIM:602361 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Small scrotum, Abnormality of the dentition, Conical tooth, Cryptorchidism, Hypogonadism, Microph... |
ORPHA:228390 |
| Martsolf Syndrome 1 |
|
Hypogonadotropic hypogonadism, Cardiac arrest, Micrognathia, Hypoplasia of the maxilla, Congestiv... |
OMIM:212720 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... |
ORPHA:449285 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Cleft upper lip, Hypoplasia of the maxilla, Bilat... |
OMIM:305400 |
| Congenital Disorder Of Glycosylation, Type It |
|
Micrognathia, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspartate aminot... |
OMIM:614921 |
| Meckel Syndrome, Type 5 |
|
Cleft upper lip, Renal cyst, Cleft palate, Bile duct proliferation, Microphthalmia |
OMIM:611561 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Exaggerated cupid's bow, Supernumerary nipple, Aggressive behavior, Cleft lip, Deep philtrum, Cle... |
OMIM:620098 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa... |
OMIM:615745 |
| Monosomy 18P |
|
Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Hypertension, Short philt... |
ORPHA:1598 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:600251 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splenomegaly, Ja... |
OMIM:612714 |
| Seckel Syndrome 1 |
|
Pancytopenia, Hyperactivity, Dental crowding, Selective tooth agenesis, Hypospadias, Micrognathia... |
OMIM:210600 |
| Warburg Micro Syndrome 4 |
|
Small scrotum, Narrow mouth, Cryptorchidism, Long philtrum, Microphthalmia, Micropenis, Decreased... |
OMIM:615663 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Hypospadias, Abnormality of t... |
ORPHA:568 |
| Bohring-Opitz Syndrome |
|
Apnea, Micrognathia, Cleft lip, Cleft palate, Urinary retention, Bradycardia, Cholelithiasis, Ann... |
ORPHA:97297 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... |
ORPHA:564 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Restlessness, Micrognathia, Hypop... |
OMIM:300534 |
| 3Q29 Microdeletion Syndrome |
|
Dental crowding, Hypospadias, Abnormality of the dentition, Aggressive behavior, Orofacial cleft,... |
ORPHA:65286 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hyperactivity, Hypospadias, Micrognathia, Cryptorchidism, Pineal cyst, Shaw... |
OMIM:617516 |
| Temtamy Syndrome |
|
Aortic regurgitation, Dental crowding, Micrognathia, Hypoplasia of teeth, Long philtrum, Micropht... |
OMIM:218340 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Thin upper lip vermilion, Aggressive behavior, Deep philtrum, Thick lower ... |
OMIM:152950 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... |
OMIM:610125 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Hypothyroid... |
ORPHA:254346 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Meckel Syndrome 14 |
|
Microretrognathia, Tricuspid regurgitation, Micrognathia, Pneumothorax, Cardiorespiratory arrest,... |
OMIM:619879 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hypogonadism, Cryptorchidism |
OMIM:601794 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Hyperactivity, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernum... |
OMIM:234100 |
| Marden-Walker Syndrome |
|
Hypospadias, Micrognathia, High, narrow palate, Cryptorchidism, Renal hypoplasia, Cleft palate, H... |
OMIM:248700 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia o... |
OMIM:610829 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... |
ORPHA:534 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microdontia, Microphthalmia, Widely spaced teeth, Micrognathia |
OMIM:619694 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Neonatal respiratory distress, Apnea, Retinal hemorrhage, Stridor, Hypertension, Hig... |
OMIM:614653 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Warburg Micro Syndrome 3 |
|
Small scrotum, Micrognathia, Hypoplastic labia minora, Narrow palate, Downturned corners of mouth... |
OMIM:614222 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Respiratory distress, Abnormal oral mucosa morphology, Renal cyst, Ureterocel... |
ORPHA:79404 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Widely-spaced incisors |
OMIM:300915 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Jaundice, Dysphagia, Hypopnea, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Res... |
OMIM:617248 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Hypospadias, Aggressi... |
ORPHA:464738 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate,... |
OMIM:618874 |
| Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia, Retrognathia |
OMIM:614583 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micropenis, Small scrotum, Micrognathia |
OMIM:610756 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Supernumerary nipple, Cleft upper lip, Cryp... |
OMIM:612530 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micrognathia, Asplenia, Cryptorchidism, Cleft palate, Horseshoe kidney, Hydr... |
ORPHA:99776 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Dilated cardiomyop... |
OMIM:300952 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia |
OMIM:615085 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, External genital hypop... |
ORPHA:2250 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... |
ORPHA:2969 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Cleft palate, Cleft upper lip |
OMIM:614402 |
| Temtamy Syndrome |
|
Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology, Micrognathia |
ORPHA:1777 |
| Micro Syndrome |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia,... |
ORPHA:2510 |
| Refsum Disease |
|
Renal insufficiency, Heart block, Splenomegaly, Respiratory insufficiency, Cardiomyopathy, Microp... |
ORPHA:773 |
| Atelis Syndrome 2 |
|
Micrognathia, Diastema, Thrombocytopenia, Dyspnea, Thick lower lip vermilion, Elevated circulatin... |
OMIM:620185 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Rena... |
OMIM:601186 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Leukemia, Smooth philtrum |
OMIM:602501 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Microphthalmia, Abnormal left ventricular function, Cardiomyopathy |
OMIM:613155 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Hypospadias, Recurrent pneumonia, Cleft palate, Furrowed tongue, Pulm... |
OMIM:616449 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Hyperactivity, Thick lower lip vermilion, Wide mouth, Attention deficit... |
ORPHA:1942 |
| 8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Exaggerated cupid's bow, Micrognathia, Abnormality of the dentition, Cryptor... |
ORPHA:284160 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Small scrotum, Cryptorchidism, Sh... |
OMIM:300486 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Hartsfield Syndrome |
|
Microphthalmia, Non-midline cleft lip, Respiratory insufficiency, Cleft palate |
ORPHA:2117 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Hyperinsulinemia, Renal Fa... |
ORPHA:263455 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia, Renal cyst, Bile duct proliferation, Cleft palate |
OMIM:603194 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Pulmonary arterial hypertension, Long philtrum |
OMIM:300887 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Neu... |
OMIM:617052 |
| 3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, High, narrow palate, Deep philtrum... |
ORPHA:435638 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Cryptorchidism, Hypoplastic facia... |
OMIM:616300 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Deep philtrum, Panhypopituitarism, ... |
ORPHA:2162 |
| Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary... |
OMIM:136760 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Dilated cardiomyopathy, Bradycardia, Hypoketotic hypoglycemia |
OMIM:610768 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Conical incisor, Oligodontia, Vesicoureteral reflux, Pleural lymphangiectasia, Hy... |
OMIM:235510 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Orofacial clef... |
ORPHA:3301 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Unilateral cryptorchidism, Cleft upper lip, Deep philtrum, Cleft palate, High palat... |
OMIM:206920 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Thrombocytopeni... |
OMIM:603467 |
| Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia of the maxilla, High, nar... |
ORPHA:193 |
| Nance-Horan Syndrome |
|
Mandibular prognathia, Microphthalmia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria, Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Hypospadias, Aplastic anemia, Micrognathia, Carious tee... |
OMIM:223370 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Cryptorchidism, Supernumerary too... |
OMIM:268400 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia o... |
OMIM:257850 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cleft lip, Cryptorchidism... |
OMIM:603457 |
| Yellow Fever |
|
Shock, Acute pancreatitis, Anuria, Renal insufficiency, Elevated circulating aspartate aminotrans... |
ORPHA:99829 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral leukoplakia, ... |
OMIM:618165 |
| Meckel Syndrome, Type 4 |
|
Microphthalmia, Renal cyst, Bile duct proliferation, Cleft palate |
OMIM:611134 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Splenomegal... |
OMIM:252920 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cryptorchidism, High palate, Microphthalmia, Abnormality of the hypothalamus-pituit... |
ORPHA:139471 |
| Seckel Syndrome 10 |
|
Microretrognathia, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated ci... |
OMIM:617253 |
| Ohdo Syndrome, X-Linked |
|
Small scrotum, Micrognathia, Shawl scrotum, Cryptorchidism, Thin vermilion border, High palate, W... |
OMIM:300895 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... |
OMIM:147250 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat... |
ORPHA:2712 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Orofacial cleft |
ORPHA:324416 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Hydroureter, Decreased res... |
OMIM:146510 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention ... |
OMIM:617914 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hydronephrosis |
ORPHA:195 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Tented upper lip vermilion, Median cleft lip, Hypospadias, Microgna... |
ORPHA:2059 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Cleft palate, Downturned corners of mouth,... |
OMIM:614230 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal ... |
OMIM:252930 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Methylmalonic aciduria, Eleva... |
OMIM:614105 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Hepatomegaly, Abnormal test... |
ORPHA:1775 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitatio... |
OMIM:261990 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Oral ulcer, Gingivitis, Hypoglycemic seizures, Nephrocalcinosis, Periodontitis, Hepatic steatosis... |
ORPHA:79259 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primar... |
OMIM:133540 |
| Steinert Myotonic Dystrophy |
|
Tented upper lip vermilion, Prolonged QRS complex, Decreased response to growth hormone stimulati... |
ORPHA:273 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, fem... |
OMIM:249000 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Fanconi Anemia, Complementation Group R |
|
Agenesis of permanent teeth, Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anemia |
OMIM:617244 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen... |
ORPHA:209905 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:609054 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, H... |
ORPHA:1772 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Cleft palate, Oligosacchariduria, Downturned corners of mouth, High palate, Long ph... |
ORPHA:163649 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:77298 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Congest... |
ORPHA:90033 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia,... |
ORPHA:2166 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Thrombocytopenia, R... |
OMIM:227646 |
| Mosaic Trisomy 1 |
|
Microretrognathia, Hepatic agenesis, Thick lower lip vermilion, Orofacial cleft, Cleft palate, Sh... |
ORPHA:1692 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microphthalmia, Dysphagia, Microcytic anemia |
OMIM:612379 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Thymus hyperplasia, Chylothorax, Micrognathia |
OMIM:619036 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Short philtrum, Abnormality of the uterus, Hypoplasia of the thymus, Vesicoureteral... |
ORPHA:567 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney |
OMIM:619318 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mandibular prognathia, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Ab... |
ORPHA:449291 |
| Ritscher-Schinzel Syndrome 3 |
|
Cryptorchidism, Microphthalmia, Thin upper lip vermilion, Micrognathia |
OMIM:619135 |
| Sandestig-Stefanova Syndrome |
|
Orofacial cleft, Respiratory failure, High palate, Microphthalmia, Retrognathia |
OMIM:618804 |
| Degcags Syndrome |
|
Micrognathia, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency ... |
OMIM:619488 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Renal hypoplasia, ... |
OMIM:609053 |
| Kapur-Toriello Syndrome |
|
Cleft upper lip, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Microphthalmia, Micropenis |
OMIM:244300 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Anophthalmia, Micrognathia, Epispadias, Abnormal fallopian tube morphology,... |
ORPHA:2556 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Mic... |
ORPHA:899 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failure, Hypoplasia o... |
OMIM:617666 |
| Encephalitis Lethargica |
|
Urinary incontinence, Bradycardia, Hyperventilation |
ORPHA:83600 |
| Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Tented upper lip vermilion, Hyperactivity, Cleft upper lip, Cryptorchidism, Cl... |
OMIM:614294 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Telangi... |
ORPHA:464 |
| Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Renal ... |
OMIM:137920 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Distal Duplication 17Q |
|
Accessory spleen, Thin upper lip vermilion, Hyperactivity, Micrognathia, Cryptorchidism, Cleft pa... |
ORPHA:3379 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Long philtrum, Thin vermilion border, Micrognathia |
ORPHA:1438 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, T... |
OMIM:227650 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Fryns Syndrome |
|
Microretrognathia, Bifid scrotum, Ureteral duplication, Tented upper lip vermilion, Ectopic pancr... |
OMIM:229850 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Thrombocytopenia, R... |
OMIM:600901 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Increased urinary glycerol, Apnea, Hypoglycemia, Dyspnea, Hyperventila... |
OMIM:229700 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Oligozoospermia, Hypog... |
OMIM:602668 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro... |
OMIM:618727 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Self-injurious behavior, Cleft palate |
ORPHA:261272 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Thyroid hypoplasia, ... |
OMIM:620186 |
| Joubert Syndrome 14 |
|
Tented upper lip vermilion, Cleft palate, Renal cyst, Intracranial hemorrhage, Hypertension, Shor... |
OMIM:614424 |
| 1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, High palate, Attention deficit hyperactivity disorder, Long philtrum, Vesicourete... |
ORPHA:250989 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior... |
OMIM:300322 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Cleft upper lip, Asplenia, Micrognathia, Absent external genita... |
OMIM:273395 |
| Distal Deletion 12Q |
|
Micrognathia, Ectopic kidney, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Microp... |
ORPHA:96149 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Micrognathia, Renal hypoplasia, Cleft palate, Bone marrow hypocellular... |
OMIM:614083 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Pulmonary arterial... |
ORPHA:974 |
| Jacobsen Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Annular pancreas, Clitoral hypoplasia, Macular hypopla... |
OMIM:147791 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Isosexual precocious puberty |
ORPHA:2788 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Thrombocytopenia, R... |
OMIM:227645 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Micrognathia, Cleft lip, Cryptorchidism, Renal cyst, Furrowed tongue, High palate, B... |
OMIM:616975 |
| Cockayne Syndrome |
|
Urinary incontinence, Hepatomegaly, Abnormal dental morphology, Cryptorchidism, Renal hypoplasia,... |
ORPHA:191 |
| Fanconi Anemia |
|
Micrognathia, Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Abnor... |
ORPHA:84 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Carious teeth, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Intersti... |
OMIM:127550 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Intercostal retractions, Crackles, ... |
ORPHA:1329 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Warburg Micro Syndrome 2 |
|
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis |
OMIM:614225 |
| Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... |
OMIM:302350 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Conical t... |
OMIM:308300 |
| Stevenson-Carey Syndrome |
|
Central hypoventilation, Pierre-Robin sequence, Downturned corners of mouth, Narrow mouth, Microp... |
OMIM:611961 |
| Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Micrognathia, Bilateral renal hypoplasia, Cleft palate,... |
OMIM:243605 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Respiratory insufficiency |
OMIM:613153 |
| Oculodentodigital Dysplasia |
|
Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Tauro... |
OMIM:164200 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Bilateral cleft lip and palate, Accessory oral frenulum, Micrognathia |
OMIM:619339 |
| Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Micrognathia, Non-midline cleft lip, Cleft palate, Microdontia, Microph... |
ORPHA:1915 |
| Joubert Syndrome 22 |
|
Microphthalmia, Renal hypoplasia |
OMIM:615665 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Micrognathia, Cleft palate, High palate, Hypoplastic nipples, Narrow mouth, Microphthalmia, Long ... |
OMIM:156610 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Long upper lip, Pierr... |
ORPHA:364577 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens, Long philtrum |
ORPHA:85194 |
| Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Cleft upper lip, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Microph... |
OMIM:264480 |
| Kapur-Toriello Syndrome |
|
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis, Orofacial cleft |
ORPHA:2328 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Compulsive behaviors, Vesicoureteral reflux, Micropenis, Hypogonadot... |
ORPHA:138 |
| Mend Syndrome |
|
Hyperactivity, Asymmetry of the mouth, Micrognathia, Cryptorchidism, Aggressive behavior, Cleft p... |
ORPHA:401973 |
| Rodrigues Blindness |
|
Microphthalmia, Tooth malposition, Nasal flaring |
OMIM:268320 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Hamartoma of tongue, Micrognathia, Septate vagina, Cleft lip, Ut... |
OMIM:617925 |
| Joubert Syndrome 2 |
|
Central apnea, Renal insufficiency, Episodic tachypnea, Renal cyst, High palate, Nephronophthisis... |
OMIM:608091 |
| Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter... |
ORPHA:90324 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Retrognathia, Decreased fertility, Hypoplasia of teeth |
OMIM:234050 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hyp... |
ORPHA:353281 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Hyperactivity, Or... |
ORPHA:77301 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Micrognathia |
OMIM:614219 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, ... |
ORPHA:805 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos, Tongue thrusting |
ORPHA:77299 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Junctional ectopic tachycardia, Cleft palate, Micropenis, Hypoplasia of t... |
OMIM:309801 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Small scrotum, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism... |
OMIM:616734 |
| Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
| Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Anophthalmia, Hypospadias, Septate vagina, Persistence of primary teet... |
OMIM:300166 |
| Frontonasal Dysplasia 2 |
|
Conical tooth, Bilateral cryptorchidism, Widely spaced teeth, Microphthalmia, Broad philtrum |
OMIM:613451 |
| X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Hypospadias, Ectopic kidney, Cryptorchidism, Thick lower ... |
ORPHA:3063 |
| Frontorhiny |
|
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Microphthalmia, Hypopituita... |
ORPHA:391474 |
| Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Sudden cardiac death, Pulmonary embolism, ... |
ORPHA:744 |
| Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
| Momo Syndrome |
|
Delayed eruption of teeth, Abnormality of the thyroid gland, Bilateral microphthalmos, Thick lowe... |
ORPHA:2563 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
| Trichothiodystrophy 1, Photosensitive |
|
Asthma, Telangiectasia, Hypogonadism, Microphthalmia, Triangular mouth, Retrognathia |
OMIM:601675 |
| Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Tachycardia, Anorexia, Pancreatitis, Jaundice, Cholest... |
ORPHA:521219 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Bilateral microphthalmos, Anemia, Congenital hypopar... |
ORPHA:93325 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Microphthalmia |
OMIM:167730 |
| 2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Cryptorchidism, Deep philtrum, Cleft palate, Downturned corners of mouth, Thin verm... |
ORPHA:251014 |
| Microphthalmia With Limb Anomalies |
|
Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cleft upper l... |
ORPHA:1106 |
| Teebi-Shaltout Syndrome |
|
Ureteral stenosis, High, narrow palate, Cleft palate, Horseshoe kidney, Wide mouth, Hydronephrosi... |
OMIM:272950 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Abnormal dental morphology, Abnormal dental ... |
ORPHA:2092 |
| Monosomy 9P |
|
Hypospadias, Micrognathia, Abnormality of the dentition, Narrow mouth, Cryptorchidism, Cleft pala... |
ORPHA:261112 |
| Tetrasomy 9P |
|
Dental crowding, Micrognathia, Biliary atresia, Downturned corners of mouth, Inappropriate behavi... |
ORPHA:3310 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy |
ORPHA:370959 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Microphthalmia, Short philtrum, Micrognathia |
ORPHA:163966 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth, Long phil... |
OMIM:618571 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Dental crowding, Micrognathia, Renal cyst, Micropenis, Hepatic stea... |
OMIM:270400 |
| Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Bifid uvu... |
ORPHA:672 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Micrognathia, Cryptorchidism, Abnormal fallopian tube morphology, Microphthalmia, R... |
ORPHA:3412 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Micrognathia, High palate, Bradycardia, Emphysema, Pulmonary insuff... |
OMIM:614437 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Cleft soft palate, Smooth philtrum, Micrognathia |
OMIM:614526 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... |
ORPHA:340 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Cleft palate |
OMIM:613456 |
| Cat Eye Syndrome |
|
Micrognathia, Biliary atresia, Cleft palate, Horseshoe kidney, Pulmonic stenosis, Vesicoureteral ... |
OMIM:115470 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Oligodontia, Microdontia... |
OMIM:612289 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Aortic regurgitation, Hypospa... |
ORPHA:508498 |
| Scorpion Envenomation |
|
Bundle branch block, Tachypnea, Prominent U wave, Hyperglycemia, Priapism, Ketonuria, Elevated ci... |
ORPHA:466677 |
| Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Dental crowding, Small scrotum, Hypospadias, Cleft upper lip, ... |
ORPHA:2052 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
| Yunis-Varon Syndrome |
|
Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Short philtrum, ... |
ORPHA:3472 |
| Trisomy 18 |
|
Microretrognathia, Cryptorchidism, Non-midline cleft lip, Narrow palate, Cleft palate, Narrow mou... |
ORPHA:3380 |
| Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Supernumerary nipple, Micrognathia, Cryptorchidism, Deep philtrum, Ever... |
OMIM:613884 |
| Papillorenal Syndrome |
|
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... |
OMIM:120330 |
| Trichothiodystrophy |
|
Hypoplasia of mandible relative to maxilla, Carious teeth, High, narrow palate, Cryptorchidism, B... |
ORPHA:33364 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio... |
OMIM:206900 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Lip pit, Supernumerary nipple, Hypodontia, Microphthalmia, Abnormal palate... |
ORPHA:1236 |
| Heart And Brain Malformation Syndrome |
|
Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted lower lip vermilion, Microphth... |
OMIM:616920 |
| Roberts Syndrome |
|
Cleft upper lip, Micrognathia, Cryptorchidism, Thrombocytopenia, Long penis, Cleft palate, High p... |
ORPHA:3103 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Apnea, Vaginal neoplasm, Micrognathia, Cleft ... |
ORPHA:1052 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Abnormality of the spleen, Horseshoe ki... |
ORPHA:2538 |
| Bartsocas-Papas Syndrome 1 |
|
Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Bilateral cryptorchidism, Absent extern... |
OMIM:263650 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Micrognathia, Stage 5 chronic kidney disease, Hypertens... |
OMIM:617729 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Hyperactivity, Increas... |
OMIM:609152 |
| Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Hypoplasia of the maxilla, Cleft lip, Cryptorchi... |
OMIM:139210 |
| Cousin Syndrome |
|
Micrognathia, Ambiguous genitalia, female, Alveolar ridge overgrowth, Cleft palate, Ambiguous gen... |
OMIM:260660 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Cryptorchidism, Cleft palate, Buphthalmos,... |
OMIM:236670 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Sinus bradycardia |
OMIM:618397 |
| Pelvis-Shoulder Dysplasia |
|
Micrognathia, Bilateral microphthalmos, Microglossia, Cleft palate, Ambiguous genitalia, Thick an... |
ORPHA:2839 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, High palate, Hydronephrosis, Neonatal hypoglycemia |
ORPHA:35173 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism... |
ORPHA:468631 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
| Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Hypospadias, Micrognathia, Phimosis... |
OMIM:309500 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy,... |
ORPHA:139411 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Cleft palate |
OMIM:607597 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Microphthalmia, Abnormally large globe |
OMIM:615249 |
| 3Q29 Microduplication Syndrome |
|
Abnormality of the dentition, Deep philtrum, Cleft palate, High palate, Aniridia, Microphthalmia |
ORPHA:251038 |
| Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Micrognathia, Cleft palate, Chylothorax, Microphthalmia, Arrhythmia |
OMIM:153400 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Intracranial hemorrha... |
OMIM:613406 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Tachycardia, Unilateral cryptorchidism, Tracheomalacia, Cryptorc... |
OMIM:618280 |
| Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, External genital hypopla... |
ORPHA:141099 |
| Frontofacionasal Dysplasia |
|
Microphthalmia, Non-midline cleft lip, Cleft palate |
ORPHA:1791 |
| Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... |
OMIM:214800 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Hypospadias, Precocious puberty, Long philtrum, Microphthalmia |
OMIM:615877 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Ureteral duplication, Anophthalmia, Supernumerary nipple, Cleft upper ... |
OMIM:305600 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Elevated cir... |
OMIM:601812 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... |
OMIM:608670 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Vesicoureteral reflux, Aspirati... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Vesicoureteral reflux, Aspirati... |
ORPHA:353277 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Micrognathia, Hypoplasia of the ir... |
OMIM:251300 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Micrognathia |
OMIM:617306 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Restrictive ventilator... |
OMIM:619482 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Cryptorchidism, Bicarbonaturia, Prox... |
OMIM:309000 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Micrognathia, Cryptorchidism, Horseshoe kidney, Micropenis, Clitoral ... |
OMIM:609945 |
| Steinfeld Syndrome |
|
Microphthalmia, Median cleft lip and palate, Bifid uvula, Absent gallbladder |
OMIM:184705 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Short philtrum, Micrognathia |
OMIM:610758 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Hypospadias, Micrognathia, Bifid uterus, Cleft palate, Adrena... |
OMIM:236680 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Cleft upper lip, Clef... |
OMIM:109400 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Cleft upper lip, Precocious puberty, Cleft palate, Short philtrum, ... |
ORPHA:50 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Urinary incontinence, Asplenia, Cleft hard... |
ORPHA:261537 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Diabetes mellitus, Cryptorchidism, Abnormal repetitive mannerisms... |
ORPHA:649 |
| Fraser Syndrome 1 |
|
Anophthalmia, Dental crowding, Hypospadias, Cleft upper lip, Cryptorchidism, Bilateral microphtha... |
OMIM:219000 |
| Mycophenolate Mofetil Embryopathy |
|
Ectopic kidney, Micrognathia, Orofacial cleft, Tracheomalacia, Microphthalmia |
ORPHA:268249 |
| Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Bila... |
OMIM:610828 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Small scrotum, Micrognathia, Widely-spaced maxillary central incisors... |
OMIM:309580 |
| Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Urinary incontinence, Asplenia, Cleft hard... |
ORPHA:2152 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Wide mou... |
OMIM:154500 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Small scrotum, Female hypogonadism, Adrenal hypoplasia, Micrognathia, Cryptorchidis... |
OMIM:607932 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Abnormality of the dentition |
ORPHA:1806 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia, Ma... |
OMIM:201180 |
| 8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Gastrointestinal hemorrhage, Ectopic posterior pitui... |
ORPHA:508488 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization |
ORPHA:891 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Malar flattening, Hydronephrosis |
OMIM:302960 |
| Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Long philtrum |
OMIM:615145 |
| Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Narrow mouth, Cleft palate, Micrognathia |
OMIM:251230 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Enlarged labia minora, Micrognathia, Cleft upper lip, Cryptorchidi... |
OMIM:268300 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Cleft upper lip, Precocious puberty, Recurrent pneumonia, Cleft pal... |
OMIM:304050 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Homocystinuria, Dental malocclusion, High palate, Microphthalmia, Retrognathia, Malar flattening,... |
OMIM:601552 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Urinary incontinence, Asplenia, Cleft hard... |
ORPHA:261552 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Recurrent aspiration pneumonia, Impulsivity, Self-mutilation, Chronic... |
ORPHA:642 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
| Adams-Oliver Syndrome 1 |
|
Supernumerary nipple, Cleft upper lip, Cleft palate, Hypertension, Pulmonary arterial hypertensio... |
OMIM:100300 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Micrognathia |
ORPHA:1352 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Respiratory failure |
OMIM:616538 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Dilated cardiomyopathy, Respiratory insufficiency, Pulmonic stenosis |
OMIM:253800 |
| Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia,... |
OMIM:607323 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia |
OMIM:613150 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Median cleft lip, Orofacial cleft, Absent gallbladder |
ORPHA:3186 |
| Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Subm... |
OMIM:235730 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Supernumerary nipple, Cleft upper lip, Micrognathia, Abnormality of th... |
OMIM:113620 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Renal insufficiency, Uret... |
ORPHA:857 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Thin upper lip vermilion, Aortic regurgitation, Micrognathia, Abnormal rep... |
OMIM:612474 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Hypogonadism |
OMIM:610651 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Retrognathia, Optic nerve hypoplasia |
OMIM:614643 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Asthma, Cleft palate, High, narrow palate |
ORPHA:2714 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Pleural effusion, Thick vermilion border, Chylothorax, Long philtrum, Microphthalmi... |
ORPHA:2526 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Hypospadias, Hydroureter, Cleft upper lip, Aggressive behavior, Hi... |
OMIM:309800 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux |
OMIM:120200 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Retinal... |
OMIM:609049 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Horseshoe kidney, Bladder diverticulum, Vesicoureteral reflux, Microphthal... |
ORPHA:959 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos, Aggressive behavior |
OMIM:310600 |
| Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Cleft palate |
OMIM:257910 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Microphthalmia, Anemia |
OMIM:127000 |
| Isolated Arrhinia |
|
Respiratory distress, Microphthalmia, Hypoplasia of the nasal bone |
ORPHA:1134 |
| Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia |
OMIM:612109 |
| Neu-Laxova Syndrome 1 |
|
Swollen lip, Cleft upper lip, Micrognathia, Bifid uterus, Thick lower lip vermilion, Cryptorchidi... |
OMIM:256520 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Short uvula, Lens coloboma, Submucous cleft hard palate, Downturned corn... |
OMIM:619539 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Diabetes insipidus, Adrenal hypoplasia, Submucous cleft hard palate, B... |
OMIM:157170 |
| Holoprosencephaly 1 |
|
Hypoglycemia, Adrenal hypoplasia, Microphthalmia, Micropenis, Diabetes insipidus, Median cleft li... |
OMIM:236100 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
| Curry-Jones Syndrome |
|
Microphthalmia, Lip pit |
OMIM:601707 |
| Frontofacionasal Dysplasia |
|
Cleft upper lip, Orofacial cleft, Microphthalmia, Malar flattening, Bifid uvula, Hypoplasia of th... |
OMIM:229400 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Hypothyroidism |
ORPHA:42775 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum |
ORPHA:2612 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of the frontal sinuses, Microphthalmi... |
ORPHA:306542 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Micrognathia, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia,... |
OMIM:253280 |
| Monosomy 13Q14 |
|
Microphthalmia, Micrognathia |
ORPHA:1587 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Cleft upper ... |
OMIM:164210 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic strok... |
OMIM:175780 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
