| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... |
OMIM:616199 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Elevated circulating creatine kinase concentration, Muscle weakness, Muscle fiber calsequestrin 1... |
OMIM:616231 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Elevate... |
OMIM:618655 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... |
OMIM:618848 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Distal muscle weakness, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Nonaka Myopathy |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Distal amyotrophy, EM... |
OMIM:605820 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... |
OMIM:617030 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
| Oculopharyngodistal Myopathy 2 |
|
Bulbar palsy, Distal muscle weakness, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:618940 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... |
ORPHA:178400 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... |
ORPHA:178464 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:613204 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Distal muscle weakness, Mildly elevated creatine kinase, Fiber type grouping |
OMIM:614369 |
| Myopathy, Myofibrillar, 3 |
|
Progressive distal muscle weakness, Elevated circulating creatine kinase concentration, Proximal ... |
OMIM:609200 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, W... |
OMIM:181400 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Cardiomyopathy, Dilated, 1X |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Calf m... |
OMIM:611615 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles |
OMIM:147421 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Myopathy, Myofibrillar, 5 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Muscle fiber cytopl... |
OMIM:609524 |
| Myasthenic Syndrome, Congenital, 17 |
|
Muscle weakness, Type 1 muscle fiber predominance |
OMIM:616304 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... |
OMIM:608807 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Centrally nucleated s... |
OMIM:620235 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... |
OMIM:619477 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... |
OMIM:254110 |
| Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Ragge... |
OMIM:500002 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Poor head control, Elevated circulating creatine kinase concentration, Proximal muscle weakness, ... |
OMIM:300717 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Elevated circulating creatine kina... |
ORPHA:266 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Renal cyst, Right aortic a... |
OMIM:231060 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc... |
OMIM:619042 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Neck flexor weakness, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re... |
OMIM:616209 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Elevated circulating creatine kina... |
OMIM:615424 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... |
OMIM:620386 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Calf m... |
OMIM:618135 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... |
ORPHA:2593 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Neck flexor weakness, Elevated circulating creatine kinase concentration... |
OMIM:609273 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Distal amyotrophy, Mu... |
OMIM:254130 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal... |
ORPHA:457050 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 |
|
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... |
OMIM:600794 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Elevat... |
OMIM:619733 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Abdominal wall muscle weakness, Elevated circulating creatine kinase concentrat... |
OMIM:618129 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... |
OMIM:253601 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Myopathy, Distal, Tateyama Type |
|
Neck flexor weakness, Elevated circulating creatine kinase concentration, Hand muscle weakness, C... |
OMIM:614321 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Centrally nucleated... |
OMIM:613530 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Myasthenic Syndrome, Congenital, 12 |
|
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... |
OMIM:610542 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Dandy-Walker malformation, Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Myopat... |
OMIM:612937 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Distal muscle weakness, Neck flexor weakness, Elevated circulating creatine kin... |
OMIM:601846 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Hypercholesterolemia, Progressive distal muscle weakness, Increase... |
ORPHA:488650 |
| Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Proximal muscle weakness, F... |
OMIM:616471 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617760 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... |
OMIM:117000 |
| Zebra Body Myopathy |
|
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Elevated circulating crea... |
ORPHA:97240 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... |
OMIM:608423 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Elevated circula... |
OMIM:617069 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr... |
OMIM:300696 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Reduced muscle... |
ORPHA:280333 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... |
ORPHA:34516 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
| Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness |
OMIM:614750 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter... |
ORPHA:1878 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... |
OMIM:618654 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... |
ORPHA:178145 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Neck flexor weakness, Elevated circulating creatine kinase concentration, Proxi... |
OMIM:603689 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ophthalmopl... |
ORPHA:270 |
| Myopathy, Tubular Aggregate, 1 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, External ophthalmop... |
OMIM:160565 |
| Congenital Myopathy 14 |
|
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... |
OMIM:618414 |
| Myopathy, Centronuclear, 4 |
|
Abnormal circulating creatine kinase concentration, Muscle weakness, Type 1 muscle fiber predomin... |
OMIM:614807 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... |
OMIM:605637 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... |
OMIM:608358 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, St... |
ORPHA:399081 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... |
OMIM:619178 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, E... |
OMIM:619566 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Respiratory insuffi... |
OMIM:300718 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... |
OMIM:609283 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... |
OMIM:500013 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Skelet... |
OMIM:613157 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration |
OMIM:609500 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... |
OMIM:300559 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... |
OMIM:160500 |
| Myopathy, Distal, 3 |
|
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Late-onset proximal muscle weaknes... |
OMIM:610099 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... |
OMIM:616313 |
| Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... |
OMIM:614065 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:616052 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers... |
OMIM:616228 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef... |
OMIM:613885 |
| Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Progressive distal muscle weakness, Elevated circulating creatine kinase con... |
OMIM:609452 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Ragged-red muscle f... |
OMIM:616924 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Facial palsy, Elevated circulating creatine kinase concentration, Respi... |
OMIM:500009 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Cl... |
OMIM:611134 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... |
OMIM:614302 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Progressive distal muscle weakness, Elevated circulating creatine ki... |
ORPHA:98911 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620138 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... |
OMIM:618138 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Merrf |
|
Optic atrophy, Myopathy, Ragged-red muscle fibers, Ataxia |
ORPHA:551 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Inability to walk, Ragged-red muscle fibers, Increased i... |
ORPHA:276435 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Dysphagia, Increased variability in muscle fiber ... |
ORPHA:397744 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:612539 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Failure to thrive, Skeleta... |
OMIM:619518 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Achilles tendon co... |
OMIM:604801 |
| Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Elevated c... |
OMIM:617070 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Bulbar palsy, Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Flex... |
OMIM:603511 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... |
OMIM:620265 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617072 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
| Myopathy, Myofibrillar, 2 |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Respiratory insuffici... |
OMIM:608810 |
| Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
OMIM:619473 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers, Muscle weakness |
OMIM:545000 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Loss of ambulation, Myopathy |
OMIM:606768 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Skeletal muscle atrophy, Generalized muscle weakness, Increased variabi... |
ORPHA:238329 |
| Oculopharyngodistal Myopathy 4 |
|
Distal muscle weakness, Autophagic vacuoles, Elevated circulating creatine kinase concentration, ... |
OMIM:619790 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia |
ORPHA:294 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakne... |
OMIM:300816 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Elevated creatine kin... |
ORPHA:263494 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Elevated circulating creatine kinase concentrat... |
ORPHA:309169 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:607855 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facial diplegia, Nec... |
OMIM:609285 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Gait disturbance, Type 1... |
ORPHA:424107 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Mitochondrial hypertrophy, Myopathy, Muscular dystrophy, Increased endomysial conne... |
OMIM:602541 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w... |
OMIM:609284 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Adult-Onset Nemaline Myopathy |
|
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... |
ORPHA:171442 |
| Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Elevated circulating creatine kinase concentration, Fatt... |
OMIM:620249 |
| Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Distal muscle weakness, Ca... |
OMIM:158810 |
| Rippling Muscle Disease 2 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Skelet... |
OMIM:606072 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... |
ORPHA:59135 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... |
ORPHA:598 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P... |
ORPHA:86812 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Prox... |
ORPHA:34515 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Spinal muscular atro... |
OMIM:615048 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Microcytic anemia |
OMIM:618852 |
| Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Gowers sign, Flexion... |
OMIM:310440 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Ankl... |
OMIM:613818 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... |
OMIM:256030 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper... |
OMIM:300695 |
| 8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of... |
ORPHA:251076 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... |
OMIM:167320 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Distal muscle weakness, Hand muscle weakness, Distal amyotrophy, Weakness of... |
OMIM:607641 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm |
ORPHA:261102 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Elevated circulating creat... |
ORPHA:353 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Neck flexor weakness, Fatty replacement of ... |
ORPHA:171445 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Abnormally large globe, Hydrocephalus, Vascular ring, Atrial septal de... |
OMIM:603387 |
| Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Hydrocephalus, Tetralo... |
ORPHA:1926 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Ventriculomegaly, Hypospadias, Abnormality of the kidney, Uni... |
ORPHA:363444 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ... |
OMIM:611588 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Muscle weakness |
ORPHA:85162 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:617066 |
| Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Renal age... |
ORPHA:1335 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Proximal amyotrophy, D... |
OMIM:182980 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Poor head control, Hypoalbuminemia, Hypermethio... |
OMIM:613752 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Nemaline Myopathy 7 |
|
Fatty replacement of skeletal muscle, Gowers sign, Respiratory insufficiency due to muscle weakne... |
OMIM:610687 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... |
OMIM:613954 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Renal cyst, Cleft palate, Horseshoe kidney, L... |
OMIM:614815 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Skeletal muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentrati... |
OMIM:613158 |
| Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Ventricular septal defect, Hypospadias, Hydrocephalus, Double outlet r... |
OMIM:220210 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, G... |
OMIM:611705 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 fibers relativel... |
OMIM:300580 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy, Ataxia |
ORPHA:2579 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Gowers sign, Calf muscle hypertrophy, Myopath... |
ORPHA:119 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:601927 |
| Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology... |
ORPHA:75840 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weakness, Quadricep... |
OMIM:620389 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
| Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Proximal muscle weakness, Elevated circulating creatine ... |
OMIM:611307 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Non-midline cleft lip, Hydrocep... |
ORPHA:1908 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Muscle weakness, Abnormal muscle fiber protein expr... |
ORPHA:330054 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... |
OMIM:618845 |
| Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir... |
OMIM:616165 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ... |
OMIM:605355 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Elevated circulating c... |
ORPHA:353327 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... |
OMIM:601462 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Cleft upper lip, Complete... |
OMIM:264480 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
| Congenital Myopathy 10A, Severe Variant |
|
Poor head control, Facial palsy, Camptodactyly of finger, Elevated circulating creatine kinase co... |
OMIM:614399 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Decreased nerve conduction velocity, Inability to walk, Upper limb muscle weakness, Distal amyotr... |
ORPHA:99939 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Miyoshi Muscular Dystrophy 3 |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Quadriceps muscle ... |
OMIM:613319 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Microphthalmia, Ventriculomegaly |
ORPHA:324416 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... |
OMIM:619024 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness |
OMIM:607678 |
| Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Hydrocephalus, Meningocele,... |
OMIM:614424 |
| Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... |
ORPHA:171439 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abn... |
ORPHA:477817 |
| Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Inability to walk, Achilles tendon contracture, Proximal amyotrophy... |
ORPHA:2596 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... |
OMIM:255320 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum |
ORPHA:398156 |
| Congenital Myopathy 3 With Rigid Spine |
|
Poor head control, Neck flexor weakness, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:602771 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Renal agenesis, Cleft palate, Abnormal heart morphology, Abnormal cardiac septum morphology, Cong... |
ORPHA:294975 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Spinal muscular atrophy, Diaphragmatic weakness, Distal amyotrophy, Distal lower limb muscle weak... |
OMIM:607088 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip, Anterior... |
OMIM:601357 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Proximal muscle weakness, G... |
OMIM:601287 |
| Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia |
OMIM:604416 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Limb-girdle muscle weakness, Myopathy, Gait disturbance, Difficulty ... |
ORPHA:352470 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palate, Tooth agenesis, Abnormal aorti... |
ORPHA:1166 |
| Central Core Disease |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Respiratory insu... |
ORPHA:597 |
| Frontonasal Dysplasia 1 |
|
Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary central incisors, Cranium... |
OMIM:136760 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers, Ataxia, Difficulty walking |
OMIM:618242 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
| Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Patent ductus ... |
OMIM:179613 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... |
OMIM:613723 |
| Rigid Spine Syndrome |
|
Waddling gait, Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring con... |
ORPHA:97244 |
| Hereditary Continuous Muscle Fiber Activity |
|
Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... |
ORPHA:972 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Megabladder, Congenital |
|
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... |
OMIM:618719 |
| Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Proximal muscle we... |
OMIM:615883 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra... |
OMIM:618484 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Gowers sign, Abnormal circulating creatine kinase concentration, ... |
OMIM:617336 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb... |
OMIM:609308 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... |
OMIM:608930 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory pa... |
ORPHA:681 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Proximal amyotrophy... |
OMIM:612998 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn... |
OMIM:603034 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic steno... |
ORPHA:3304 |
| Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... |
OMIM:617616 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hydrocephalus, ... |
ORPHA:261290 |
| Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... |
ORPHA:99013 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
| Distal Deletion 13Q |
|
Encephalocele, Renal hypoplasia/aplasia, Anencephaly, Abnormal cardiac septum morphology, Holopro... |
ORPHA:1590 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling |
OMIM:615595 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Gait disturbance, Increased... |
OMIM:125250 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... |
OMIM:255310 |
| Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... |
ORPHA:399096 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber... |
OMIM:616816 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... |
ORPHA:610 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... |
ORPHA:486815 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Muscle fiber hyaline bodies, Short stature, Centrally nucleated skeleta... |
OMIM:255160 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion... |
OMIM:617877 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Cleft upper lip, Anencephaly, Renal cyst, Cleft palate, Microphthalmia |
OMIM:611561 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Hydranencephaly, Truncus arte... |
OMIM:601355 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
| Nemaline Myopathy 8 |
|
Facial palsy, Flexion contracture, Ophthalmoparesis, Myofibrillar myopathy, Nemaline bodies, Musc... |
OMIM:615348 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... |
OMIM:310300 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex IV, F... |
OMIM:619065 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Ragged-red muscle fibers, Muscle weakness |
OMIM:616794 |
| Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Quadriceps muscle w... |
ORPHA:206546 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Micr... |
OMIM:615297 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia |
ORPHA:79278 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Mmep Syndrome |
|
Microphthalmia, Median cleft lip, Ventricular septal defect, Orofacial cleft |
ORPHA:3434 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Leber Hereditary Optic Neuropathy |
|
Myopathy, Optic atrophy, Ataxia |
ORPHA:104 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septal defect, Hi... |
OMIM:618804 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Decreased compound muscle action potential amplitude, Flexion contracture, Generalized ... |
OMIM:618323 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r... |
ORPHA:314588 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycys... |
OMIM:173900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... |
OMIM:607684 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ... |
ORPHA:206559 |
| Amyotrophic Lateral Sclerosis 21 |
|
Bulbar palsy, Distal muscle weakness, Elevated circulating creatine kinase concentration, Central... |
OMIM:606070 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Renal cyst, Cleft palate, Microp... |
OMIM:603194 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:615397 |
| Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Rhabdomyolysis, Rag... |
OMIM:618416 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Prox... |
OMIM:615352 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness... |
OMIM:620285 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Hydrocephalus, Cleft palate, Anteriorly... |
OMIM:309801 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... |
ORPHA:1145 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Abnormality of the kidney, Patent ductus arteriosus, Hydrocephalus, Holoprosenceph... |
ORPHA:93274 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... |
OMIM:619216 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Decreased activity of mitochondrial complex IV, Neonatal death, Decreased activity of mitochondri... |
OMIM:614096 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respiratory insuffici... |
OMIM:161800 |
| Creatine Phosphokinase, Elevated Serum |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... |
OMIM:123320 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:609560 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate |
OMIM:261800 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
| Hartsfield Syndrome |
|
Encephalocele, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly, Microphthalmia |
ORPHA:2117 |
| Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
| Dystonia-Aphonia Syndrome |
|
Macroglossia, Abnormal mitochondrial shape, Dysphagia |
ORPHA:412217 |
| Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy, Muscle weakness |
OMIM:254100 |
| Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Horseshoe kidney, High palate, ... |
OMIM:614846 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:255200 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... |
OMIM:608931 |
| Cocaine Embryofetopathy |
|
Encephalocele, Abnormality of the urinary system, Intestinal atresia |
ORPHA:1911 |
| Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... |
OMIM:615959 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi... |
OMIM:192430 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Restlessness, Ragged-red muscle fibers, Decreased activity of mitochondrial complex III |
OMIM:615159 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti... |
ORPHA:3316 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased ... |
ORPHA:401768 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Hydrocephalus, Abnormal localization of kidney, Abnormal cardiac septu... |
ORPHA:83473 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturned corners of mouth, Ar... |
ORPHA:1110 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia |
OMIM:300752 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Flexion contracture, Myopathy, Gait disturbance |
ORPHA:157973 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Abnormal cerebral vein morpho... |
ORPHA:60015 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... |
ORPHA:596 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Elevated creatine kinase after exercise, ... |
ORPHA:57 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Failure to thrive, Nemaline bodies |
OMIM:618246 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atr... |
ORPHA:254886 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Gait disturbance, Generalized amyotrophy, Falls, Pelvi... |
OMIM:615156 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Joubert Syndrome 16 |
|
Encephalocele, Dandy-Walker malformation, Renal cyst, Nephronophthisis |
OMIM:614465 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Optic atro... |
ORPHA:272 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
| Schisis Association |
|
Encephalocele, Renal agenesis, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate... |
ORPHA:63862 |
| Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Muscle weakness |
OMIM:253550 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
| Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Ataxia |
OMIM:551500 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Paraspinal muscle hypertrophy, Knee flexion contracture, Conge... |
OMIM:602484 |
| Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Meckel Syndrome 13 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:617562 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Progressive external ophthalmoplegia |
ORPHA:480 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Muscle weakness, Type ... |
OMIM:618276 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Urinary incontinence, Pericardial effusion, Carious teeth, Multiple muscular ventricular septal d... |
OMIM:620070 |
| Cap Myopathy |
|
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... |
ORPHA:171881 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... |
OMIM:605809 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Macroglossia, Calf m... |
OMIM:616827 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen... |
ORPHA:101082 |
| Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract |
ORPHA:1705 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, Plantar flexion contrac... |
OMIM:620011 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia |
OMIM:618805 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We... |
ORPHA:98913 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Hepatosplenomegaly, Myopathy |
ORPHA:33574 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Achil... |
OMIM:608840 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Cleft palate, Hypoplastic left heart, Transposition... |
ORPHA:1727 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
| Birk-Aharoni Syndrome |
|
Duplicated collecting system, Muscular ventricular septal defect, Micropenis |
OMIM:620071 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Muscle weakness |
OMIM:615731 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hypochromic anemia, Erythroid hyper... |
OMIM:600462 |
| Parietal Foramina 1 |
|
Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Gait disturbance, Myopathy |
ORPHA:2349 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Fatigable weakn... |
OMIM:254210 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Tubular luminal ... |
OMIM:219730 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, High palate, Widely spaced teeth, Pulmonic stenosis, Ta... |
OMIM:618205 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, Unilateral renal agenesis, High, narrow pala... |
OMIM:618494 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Decreased compound muscle act... |
OMIM:301830 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Cleft palate, Microphthalmia, Dandy-Walker malformation |
OMIM:164180 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:98855 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Ectopic kidney, Microphthalmia, Cystic renal dysplasia, Ventriculomegaly |
OMIM:613730 |
| Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Tetralogy of Fallot, Hypospadias |
ORPHA:250994 |
| Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... |
OMIM:617478 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Renal hypoplasia, Perimembranous ventricular se... |
OMIM:611376 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Cleft palate, Dandy-Walker ... |
OMIM:607361 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Cleft pa... |
OMIM:614175 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal defect, Umbilical ... |
OMIM:618354 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Abnormal mitochondrial shape, Aggressive behavior, Decreased activity of... |
ORPHA:17 |
| Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar ataxia, Dysdiadochokinesi... |
ORPHA:254881 |
| Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Abnormality of the urinary system |
OMIM:213010 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Median cleft lip, Hydrocephalus, Cleft palate, Micropenis, Microglossia,... |
OMIM:241800 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Vascular dilatation, Polycystic kidney dysplasia |
OMIM:614859 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Proximal muscle weakness, Respiratory insu... |
OMIM:254090 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... |
ORPHA:600 |
| Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Anteriorly placed anus, High palate, Short philt... |
OMIM:619148 |
| Typical Nemaline Myopathy |
|
Neck flexor weakness, Facial palsy, Elevated circulating creatine kinase concentration, Fatigable... |
ORPHA:171436 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Hydronephrosis, Abnormal palate morphology |
ORPHA:251046 |
| Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy |
OMIM:600332 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox... |
ORPHA:329478 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... |
OMIM:617022 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Abnormality of the kid... |
ORPHA:391641 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Myopathy |
OMIM:230450 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal... |
OMIM:216360 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Hyperuricemia, Muscle weakness |
ORPHA:371 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Overriding aorta, Median cleft lip, Renal hypoplasia/aplasia, Orofacial cleft, Abnormal localizat... |
ORPHA:3186 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Abnormal aortic arch morphology, High palate, Vesicoureteral reflux, ... |
ORPHA:2059 |
| Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hypoplastic left heart |
OMIM:236110 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Ventricular septal defect, Pulmonary artery atresia, Patent duct... |
OMIM:601186 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Renal hypoplasia/aplasia... |
ORPHA:2166 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft p... |
OMIM:615524 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... |
OMIM:613561 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... |
ORPHA:171433 |
| 2p15-16.1 microdeletion syndrome |
|
Optic disc hypoplasia, Hydronephrosis |
DECIPHER:70 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Cleft p... |
ORPHA:2516 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Muscular ventricular septal defect... |
OMIM:619227 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pulmonic stenos... |
OMIM:249670 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:98863 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi... |
ORPHA:2476 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:617258 |
| You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch |
OMIM:616954 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling |
OMIM:618250 |
| Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:98853 |
| Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content, Difficulty walking |
OMIM:610717 |
| Muscular Dystrophy, Becker Type |
|
Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Muscular dystr... |
OMIM:300376 |
| Cat Eye Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total anomalous pulmonary ... |
OMIM:115470 |
| Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Ethmoidal encephalocele, Coarctation of aorta |
ORPHA:280195 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... |
ORPHA:887 |
| Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, High, narrow palate, Deep philt... |
OMIM:158170 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia |
OMIM:617915 |
| Hypophosphatasia, Childhood |
|
Waddling gait, Myopathy |
OMIM:241510 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... |
ORPHA:169189 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape, Dysphagia |
ORPHA:485421 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Bifid uvula |
ORPHA:2669 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hyperalaninemia, Increased variability in muscle fiber diameter, Left ventricular noncompaction, ... |
OMIM:617228 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| King-Denborough Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Musc... |
OMIM:619542 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, Renal hypoplasia, ... |
OMIM:612946 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... |
OMIM:600001 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Microcytic anemia |
OMIM:619013 |
| Isolated Glycerol Kinase Deficiency |
|
Myopathy, EEG abnormality |
ORPHA:408 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Death in childhood, Neonatal death, Increased variability in muscle fiber diame... |
OMIM:619334 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Parachute mitral va... |
OMIM:618316 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Wide mouth, Abnormal cardiac septum morphology, Polycystic kidney dysplasia... |
OMIM:608776 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Microphthalmia, Nephroblastoma, Smoot... |
OMIM:602501 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Flexion contracture,... |
OMIM:248800 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Patent... |
OMIM:619657 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Exaggerated cupid's bow, Deep philtrum, Patent ductus arteriosus, High... |
ORPHA:261120 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Muscular ventricular septal defect |
OMIM:620062 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Poor head control, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal a... |
OMIM:617519 |
| Hsd10 Mitochondrial Disease |
|
Restlessness, Agitation, Abnormal mitochondrial morphology, Aggressive behavior |
OMIM:300438 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Encephalocraniocutaneous Lipomatosis |
|
Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus, Hypoplasia of the iris, Subv... |
OMIM:613001 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Decreased circulating antibody level, Microcytic anemia |
OMIM:619750 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Distal muscle weakness |
OMIM:205250 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode... |
ORPHA:324604 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Frontal encephalocele, Downturned corners of mouth |
ORPHA:521308 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Failure to thrive, Optic atrophy, Lethargy |
ORPHA:26792 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Renal hypoplasia/aplasia, Long penis, Cleft palate, Orofacial cleft, Ab... |
ORPHA:1988 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Enlarged kidney, Uret... |
OMIM:314390 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Catel-Manzke Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Cleft palate, Glossoptosis, Atrial septal defect, Or... |
ORPHA:1388 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:254950 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Narrow mouth, Atrial septal defect, Microphthalmia, Anal atresia |
ORPHA:3469 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arter... |
OMIM:100300 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Gait disturbance, Myopathy, EEG abnormality |
ORPHA:85329 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis, Abnormal palate morphology |
ORPHA:1450 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo... |
ORPHA:2473 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Oligo... |
OMIM:618330 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Aloba... |
OMIM:301043 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
| Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Median cleft lip, Displacement of the urethral meatus, A... |
ORPHA:3378 |
| Apert Syndrome |
|
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Esophageal atresia, Pylor... |
OMIM:101200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Poor head control, Elevated circulating creatine kinase ... |
OMIM:615350 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... |
OMIM:255125 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Aqueduct... |
OMIM:619895 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Brody Disease |
|
Skeletal muscle hypertrophy, Flexion contracture, Muscle weakness |
OMIM:601003 |
| Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Knee flexion contracture, Tip-toe gait, Generalized amyotrophy, M... |
OMIM:612954 |
| Myasthenic Syndrome, Congenital, 19 |
|
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... |
OMIM:616720 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias |
OMIM:615542 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Rhabdomyolysis, Myopathy, Erythroid hyperplasia |
OMIM:300653 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Abnormality of neutrophils |
ORPHA:154 |
| Sotos Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, High, narrow palate, Muscular ventricular s... |
OMIM:117550 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... |
ORPHA:477774 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal renal morphology, Abnormal heart morpholo... |
ORPHA:2209 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Hamartoma of tongue, Cleft upper lip, Supernumerary tooth, Myelome... |
OMIM:311200 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy |
OMIM:255100 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal... |
OMIM:258450 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Ventriculomegaly, Patent d... |
ORPHA:261344 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Ophthalmoparesis |
OMIM:500003 |
| 3C Syndrome |
|
Hypoplasia of penis, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, A... |
ORPHA:7 |
| Adams-Oliver Syndrome |
|
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Esophageal varix, Arteriovenou... |
ORPHA:974 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esophageal atresia, Pa... |
ORPHA:77298 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia |
OMIM:611638 |
| Niemann-Pick Disease, Type A |
|
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia |
OMIM:257200 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
| Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Ventriculomegaly |
OMIM:617255 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228302 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Failure to thrive, Flexion contracture, Optic atrophy |
OMIM:618237 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Rena... |
OMIM:615583 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Proximal muscle weakn... |
ORPHA:52430 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Weight loss, ... |
OMIM:613662 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect, Ventriculomegaly |
ORPHA:2515 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Macrogl... |
ORPHA:370959 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... |
ORPHA:169186 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Lobulated tongue, Dandy-Walker malformation, Cleft upper lip, Patent duc... |
OMIM:249000 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Poor head control, Elevated circulating creatine kinase ... |
OMIM:615351 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, Increased endomys... |
ORPHA:178148 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Difficu... |
ORPHA:254875 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Generalized amyotrophy, Disinhibition, Abnormal mitochondrial morphology, Dysphagia |
ORPHA:275872 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Vent... |
ORPHA:508498 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Parietal Foramina 3 |
|
Encephalocele |
OMIM:609566 |
| Srd5A3-Cdg |
|
Microcytic anemia |
ORPHA:324737 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty walking, ... |
ORPHA:369840 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Ectopic kidney, Abno... |
ORPHA:401935 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
| Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Increased muscle glycogen content, Hyperurice... |
OMIM:232800 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Anal atresia, Tetralogy of Fall... |
ORPHA:1381 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia |
OMIM:612379 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus... |
OMIM:218350 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Renal cyst, Cleft palate, H... |
OMIM:612284 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Failure to thrive, Abnormal mitochondrial shape |
ORPHA:543470 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... |
OMIM:115197 |
| Joubert Syndrome 7 |
|
Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Hydrocephalus, Conotruncal defect |
OMIM:243440 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Cleft pal... |
OMIM:607597 |
| Dk Phocomelia Syndrome |
|
Encephalocele |
OMIM:223340 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Limb muscle weakness, Nemaline bodies |
OMIM:606842 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Downturned cor... |
ORPHA:1780 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Protein-losing enteropathy, L... |
OMIM:608104 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr... |
OMIM:270100 |
| Joubert Syndrome 9 |
|
Encephalocele, Stage 5 chronic kidney disease, Ventriculomegaly |
OMIM:612285 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Renal agenesis, Anomalous origin of left coronary artery from the pulmona... |
ORPHA:2326 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Elevated circulating creatine kina... |
OMIM:616479 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal heart valve morphology, Hypospadias, Myelomeningocele, Pierre-Robin seque... |
ORPHA:90652 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Thick up... |
OMIM:619717 |
| Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,... |
OMIM:616652 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St... |
OMIM:613095 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Accessory oral frenulum, Hydrocephalus, Anencephaly, Cleft palate, Polycysti... |
OMIM:616546 |
| Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Deep philtrum, Holoprosencephaly, Dandy-Walker malformation, E... |
ORPHA:2162 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Optic atrophy, Myopathy... |
ORPHA:1215 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Encephalocele |
ORPHA:1003 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Ventricular septal defect, Cleft palate, Coarctation of aorta... |
OMIM:620210 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Unilateral cleft lip, Hypospadias |
ORPHA:1919 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Dandy-Walker malformation, Hamartoma of tongue, Cleft lip, Patent duc... |
OMIM:616300 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
| 15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Ventricular septal defect, Abnormal heart morphology, Coarctation of ao... |
ORPHA:261183 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Hydrocephalus, Red... |
ORPHA:228308 |
| Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Muscle weakness |
OMIM:615511 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ... |
OMIM:620278 |
| Pai Syndrome |
|
Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula |
ORPHA:1993 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen... |
OMIM:608390 |
| Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscl... |
OMIM:615368 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Situs invers... |
ORPHA:991 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Myopathy, Death in infancy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
| Muscle-Eye-Brain Disease |
|
Myopathy, Optic atrophy, Gait disturbance, EEG abnormality |
ORPHA:588 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy, Anemia |
ORPHA:2598 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition |
ORPHA:1008 |
| Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Branchial cyst, Branchial fistula, Intestinal malrotation, Un... |
OMIM:113650 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Paramyotonia Congenita |
|
Skeletal muscle hypertrophy, Muscle weakness |
OMIM:168300 |
| Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Hydrocephalus, Anencephal... |
OMIM:313850 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers, Ophthalmoparesis |
OMIM:610246 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect, Hydrocephalus, Cleft palate, Open mouth, Dandy-Walker malformation |
OMIM:147800 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Parietal Foramina 2 |
|
Encephalocele |
OMIM:609597 |
| Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| 3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia |
OMIM:610198 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Downturned corners of mouth, A... |
OMIM:618652 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
| Hemihyperplasia, Isolated |
|
Skeletal muscle hypertrophy |
OMIM:235000 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias, Pul... |
OMIM:301056 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Holoprosencephaly, Polycystic kidney dysplasia, Microphthalmia, Single v... |
OMIM:619879 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Inte... |
ORPHA:2970 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Progressive external ophthalmoplegia, Facial palsy, Elevated circulating creatine kinase concentr... |
OMIM:615084 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Diastema, Patent ductus arteriosus, Hydrocephalus, High palate, Short ... |
OMIM:609757 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Ventriculomegaly, Cleft palate |
OMIM:616570 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Ventriculomegaly, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion bo... |
OMIM:615502 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnorma... |
ORPHA:2184 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Tongue fasciculations |
OMIM:253300 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Dental malocclusi... |
OMIM:606232 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Ventriculomegaly, Long-chain dicarbox... |
OMIM:608836 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Renal agenesis, Protruding tongue, Diastema, Thick lower ... |
OMIM:301040 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Hypochromic microcytic anemia |
ORPHA:54028 |
| Igg4-Related Aortitis |
|
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... |
ORPHA:449400 |
| Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplas... |
ORPHA:564 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Right aortic arch, Dextrocardia |
OMIM:617577 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Dysph... |
ORPHA:352447 |
| Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:614808 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Ophthalmoparesis, Fatigable weakness, Proximal amyotrophy, Type 2 muscle fiber atrophy, Mildly el... |
OMIM:159400 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Pierre-Robin sequence... |
OMIM:616145 |
| Klippel-Trénaunay Syndrome |
|
Microcytic anemia |
ORPHA:90308 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
| Halperin-Birk Syndrome |
|
Colpocephaly, Perimembranous ventricular septal defect, Thick vermilion border, High palate, Umbi... |
OMIM:618651 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Situs inversus totalis, Pancreatic cysts, Patent duc... |
OMIM:208540 |
| Vater/Vacterl Association |
|
Renal dysplasia, Occipital encephalocele, Ventricular septal defect, Hypospadias, Renal agenesis,... |
OMIM:192350 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Patent ductus arteriosus, Thick lower lip vermilion, Widely spaced tee... |
OMIM:619797 |
| Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,... |
ORPHA:2328 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventriculomegaly, Ve... |
OMIM:220500 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Si... |
ORPHA:244 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis, Ventriculomegaly |
OMIM:247990 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Smooth philtrum, Abnormal heart morphology |
OMIM:263210 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... |
OMIM:608227 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Hydronephrosis, Anal a... |
ORPHA:195 |
| Glycogen Storage Disease Xv |
|
Scapular winging, Muscle weakness, Type 1 muscle fiber predominance |
OMIM:613507 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Hypospadias, Short uvula, Renal hypoplasia, Cleft palate, Agenesis of per... |
OMIM:614091 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... |
OMIM:620080 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Abnormal heart morphology, Colpocephaly, Macular hypoplasia, Ventriculomegaly |
ORPHA:2185 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele |
OMIM:200130 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Hydroceph... |
ORPHA:2306 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Long philtrum, Atrial septal defect, Microphthalmia, Tetralogy of Fallot |
OMIM:300887 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio... |
ORPHA:1923 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Flexi... |
OMIM:613156 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, I... |
OMIM:252011 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Aganglionic megacolon, Hydrocephalus, Cleft palate, Orofacial... |
ORPHA:220497 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, High palate, Transposition of the great arteries, Atrial ... |
ORPHA:1913 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Vesicoureteral reflux, Atrial septal defect, Hypospadias,... |
ORPHA:353281 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Progressive external ophthalmoplegia, Ragged-red muscle fibers, Ophthal... |
ORPHA:1349 |
| Myotonia Congenita, Autosomal Recessive |
|
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Muscle weakness |
OMIM:255700 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Failure to thrive |
ORPHA:91130 |
| Glycogen Storage Disease V |
|
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Rhabdomyolys... |
OMIM:232600 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Optic disc hypoplasia, Renal agenesis, Esophageal atresia, Patent duct... |
OMIM:300514 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy... |
ORPHA:99845 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Microcytic anemia |
OMIM:612073 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Hydrocephalus, Alveolar r... |
OMIM:612938 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Hydrocephalus, Renal tubular dysfunction, Atrial septal defect, Double ... |
OMIM:614886 |
| Charge Syndrome |
|
Anophthalmia, Secundum atrial septal defect, Holoprosencephaly, Atrial septal defect, Pulmonary a... |
OMIM:214800 |
| Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Increased circulating IgE level, Hypochromic microcytic anemia, ... |
OMIM:619632 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Myopathy, Hypokalemia, Muscle weakness |
OMIM:170400 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Hydrocephalus, Renal cyst, ... |
OMIM:608091 |
| Diprosopus |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate |
ORPHA:1681 |
| Acquired Partial Lipodystrophy |
|
Myopathy, Lymphocytosis |
ORPHA:79087 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Ventriculomegaly, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe ... |
OMIM:602200 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Ataxia, Dysmetria, Impaired tandem gait |
OMIM:619028 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Deep philtrum, Hydrocephalus, Orofacial cleft, Lobar h... |
OMIM:609637 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Orofacial cleft |
ORPHA:220493 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal left ventricle morphol... |
OMIM:300845 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Abnormality of the dentition, Conical tooth, Microphthalmia, Broad philtrum |
ORPHA:228390 |
| Tetralogy Of Fallot |
|
Thin vermilion border, Tetralogy of Fallot |
ORPHA:3303 |
| Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Hypospadias, Patent ductus arteriosus, Hydroce... |
OMIM:102500 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cl... |
OMIM:612561 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Short philtrum, Vesicoureteral reflux, Atrial septal defect, Hyp... |
ORPHA:567 |
| 1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Exaggerated cupid's bow, Optic disc hypoplasia, Intestinal malrotation, Hydroce... |
ORPHA:238769 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventriculomegaly, Ventricular septal defect, Dextrocardia, Abnormal heart va... |
ORPHA:99776 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... |
ORPHA:157 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co... |
ORPHA:261494 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy, Optic atrophy |
OMIM:618236 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Oculopharyngodistal Myopathy 1 |
|
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase c... |
OMIM:164310 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Waddling gait, Myopathy |
ORPHA:166002 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, High, narrow palate, Aortic isthmus hypoplasia, High palate, Atrial septal defec... |
OMIM:180849 |
| Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermilion, Downturned corner... |
OMIM:618950 |
| Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Anemia |
OMIM:615438 |
| Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Frontorhiny |
|
Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Bifid... |
ORPHA:391474 |
| Fanconi Anemia, Complementation Group O |
|
Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Hydronephr... |
OMIM:613390 |
| Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Abnormality of the kidney, Spina bifida, Cleft lip, Mye... |
ORPHA:2369 |
| Triploidy |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Non-midline cleft lip, Hydrocephalus, M... |
ORPHA:3376 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft palate, Furrowed tongue... |
OMIM:616449 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s... |
OMIM:619574 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Macrocytic anemia, Ataxia, Optic atrophy, Myopathy, Ga... |
ORPHA:98673 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Rhabdomyolysis, My... |
ORPHA:713 |
| Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Long philtrum, Atrial septal defect, Micrope... |
OMIM:619189 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate |
ORPHA:2432 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... |
OMIM:615578 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... |
OMIM:265380 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Narrow pala... |
OMIM:605627 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... |
OMIM:618974 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology |
ORPHA:3411 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia |
OMIM:236270 |
| Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Non-midline cleft lip, Cleft palate |
ORPHA:1791 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Muscle weakness |
ORPHA:99014 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Ventriculomegaly, Hydronephrosis, Midline notch of upper alveolar ridge |
OMIM:617127 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Intestinal malrotation, Hydrocephalus, Choroid plexus cyst, Polycystic ... |
OMIM:617866 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| 1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, High palate, Interru... |
ORPHA:250989 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Increased overbite,... |
OMIM:618504 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... |
OMIM:157640 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth... |
OMIM:613150 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydrocephalus, Aortic va... |
OMIM:220220 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ophthalmoplegia, Ragged-red muscle fibers |
OMIM:540000 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Protruding tongue, Secundum atrial septal defect, Perimembranous ventricular ... |
OMIM:608779 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Cleft lip, Cleft palate, Coarctation of aorta, Submucous cleft of soft ... |
OMIM:301022 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... |
OMIM:619461 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
| Emanuel Syndrome |
|
Recurrent urinary tract infections, Ventriculomegaly, Ventricular septal defect, Truncus arterios... |
OMIM:609029 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Patent ductus arteriosu... |
ORPHA:2547 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Cleft palate, Abnormal heart morphology, Narrow mouth |
ORPHA:1865 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
| Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Situs inversus totalis, Hydrocephalus, Orofacial cleft |
ORPHA:475 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Knobloch Syndrome |
|
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus,... |
ORPHA:1571 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, Ureteral ... |
ORPHA:2437 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia, Increased CSF lactate, High palate, Microphthalmia, Hypertrophic car... |
OMIM:619053 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Choroid ... |
OMIM:606812 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Intestinal malrotation, Abnormal... |
ORPHA:2712 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
| Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection |
OMIM:135580 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cleft p... |
OMIM:263520 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
External ophthalmoplegia, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Limb-girdle muscular dystrophy, Difficulty walking, Truncal ataxia |
ORPHA:369847 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, R... |
OMIM:164210 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted low... |
OMIM:616920 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Myotonia Permanens |
|
Ophthalmoplegia, Generalized muscle hypertrophy, Ophthalmoparesis, Skeletal muscle hypertrophy, M... |
ORPHA:99735 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Patent ductus arteri... |
ORPHA:457193 |
| Noonan Syndrome 12 |
|
Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, Ventriculomegaly |
OMIM:618624 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia |
OMIM:250940 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Hypoplasia of penis, Abnormal dental morphology, Abnormal denta... |
ORPHA:861 |
| Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Carious... |
OMIM:613680 |
| Acetazolamide-Responsive Myotonia |
|
Skeletal muscle hypertrophy, Ophthalmoplegia, Ophthalmoparesis |
ORPHA:99736 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Cleft lip, ... |
OMIM:615948 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
| Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
| Zaki Syndrome |
|
Dilated fourth ventricle, Renal agenesis, Patent ductus arteriosus, Wide mouth, Median pseudoclef... |
OMIM:619648 |
| Myotonia Congenita, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Muscle weakness |
OMIM:160800 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ectopic anus, Short philtrum |
ORPHA:94066 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
| Constricting Bands, Congenital |
|
Encephalocele, Cleft upper lip, Cleft palate, Ectopia cordis, Bladder exstrophy |
OMIM:217100 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
| Leber Optic Atrophy |
|
Myopathy, Optic atrophy, Ataxia, Optic neuropathy |
OMIM:535000 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection, High palate, Aortic... |
OMIM:616166 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Natal tooth, Hydroureter, Ventricular septal defect, Distal urethral duplication... |
OMIM:146510 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Thyroid lymphangiectasia, ... |
OMIM:235255 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia |
ORPHA:27 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia |
ORPHA:2575 |
| Syndromic Diarrhea |
|
Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Gastritis, Patent ductus arter... |
ORPHA:84064 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Poor head control, Ankle flexion contracture, Lower limb hypertonia, Type 1 musc... |
ORPHA:319514 |
| Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, EEG with focal sharp waves, Optic atr... |
OMIM:617302 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
| Pancreatic Colipase Deficiency |
|
Megaloblastic anemia |
ORPHA:309108 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Leber Congenital Amaurosis |
|
Encephalocele |
ORPHA:65 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Narrow mouth, Vesicoureteral reflux, Everted lower lip vermilion, Long... |
ORPHA:228399 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Microphthalmia, Hydrocephalus, Cardiomyopathy |
OMIM:613155 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate |
OMIM:611867 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Myopathy, Distal arthrogryposis, Lethargy |
ORPHA:42 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Patent ductus arteriosus, Hydrocephalus, Short philtrum, Abnormal oral cavity morphology, Umbilic... |
ORPHA:1516 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
| Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor... |
ORPHA:2237 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, High palate, Vesicoureteral reflux, Atrial septal defect,... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, High palate, Vesicoureteral reflux, Atrial septal defect,... |
ORPHA:353277 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness |
OMIM:615980 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Splenomegaly, Anemia of inadequate production |
OMIM:612714 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Abnormally large globe, Pa... |
ORPHA:1655 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hypochromic microcytic anemia |
OMIM:619423 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Kury-Isidor Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth, Long phi... |
OMIM:619762 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we... |
OMIM:607459 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Cleft palate, Ectopic anus, An... |
ORPHA:2345 |
| Temtamy Syndrome |
|
Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology, Aortic aneurysm |
ORPHA:1777 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Polycystic kidney dysplasia, Cleft palate, Abnormal heart morphology |
OMIM:214110 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Hydrocephalus, Tracheoesophageal fistula, Orofacial cl... |
ORPHA:268249 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Vesico... |
OMIM:235510 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Hydrocephalus, Chronic kidney disease, Orofacial cleft, Nephronophthis... |
OMIM:615630 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... |
OMIM:263200 |
| Danon Disease |
|
Myocardial necrosis, Distal muscle weakness, Elevated circulating creatine kinase concentration, ... |
OMIM:300257 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Ataxia, Gait ataxia |
OMIM:613077 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Polycystic ovaries, Coar... |
ORPHA:371428 |
| Lambert Syndrome |
|
Wide mouth, Branchial anomaly, Ventricular septal defect, Hypospadias |
ORPHA:1296 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Knee flexion contracture, Weight loss, Distal amyotrophy, Skelet... |
ORPHA:3208 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... |
OMIM:618021 |
| Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Optic atrophy, Myopathy, Muscular dystrophy, Aplasia/Hypoplasia ... |
ORPHA:559 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequ... |
OMIM:619980 |
| Immunodeficiency 9 |
|
Myopathy, Failure to thrive, Hypoplasia of the thymus, Difficulty walking |
OMIM:612782 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Abnormal heart morphology, Anal atresia |
OMIM:276950 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Muscular ventricular septal defect, Dilated cardiomyopathy, Perineal hypospa... |
ORPHA:66634 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexio... |
ORPHA:682 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse, High palate, Umbilical hernia, Ur... |
OMIM:104350 |
| Alg12-Cdg |
|
Thin upper lip vermilion, Hypospadias, Intestinal malrotation, Muscular ventricular septal defect... |
ORPHA:79324 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... |
OMIM:616239 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... |
OMIM:618142 |
| Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, High, narrow palate, Cleft palate, Horseshoe kidney... |
OMIM:272950 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Meningocele, Choroid plexus cyst, Wide mouth, Median cleft palat... |
ORPHA:1827 |
| Orofaciodigital Syndrome Xvii |
|
Median cleft lip, High, narrow palate, Renal hypoplasia, Micropenis, Tetralogy of Fallot, Ventric... |
OMIM:617926 |
| Iniencephaly |
|
Encephalocele, Renal agenesis, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Orofac... |
ORPHA:63259 |
| Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Hydrocephalus |
OMIM:129850 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Hypospadias |
ORPHA:141333 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Cleft upper lip, Meningoenceph... |
OMIM:236670 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:618348 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Polycystic kidney dysplasia, Nephronophthisis, Dentinogenesis imperfec... |
OMIM:184260 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Thrombocytopenia |
OMIM:619151 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:620240 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy, Failure to thrive |
OMIM:618234 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:600251 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Mosaic Trisomy 1 |
|
Ventricular septal defect, Thick lower lip vermilion, Cleft palate, Orofacial cleft, Short upper ... |
ORPHA:1692 |
| Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney |
OMIM:613630 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Atrial septa... |
ORPHA:290 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Tetralogy of Fallot, Abnormality of the philtrum, Hypospadias, Abnormality of the dentition |
ORPHA:276422 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... |
ORPHA:171430 |
| Opitz Gbbb Syndrome |
|
High palate, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Dandy-Walker malf... |
ORPHA:2745 |
| Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Atrial septal defect, Microdontia, Mes... |
ORPHA:2044 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus, Ventriculomegaly, Cardiomegaly |
ORPHA:858 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den... |
ORPHA:2322 |
| Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Pierre-Robin sequence, Downturned corners of mouth, Left supe... |
OMIM:611961 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
| Fried Syndrome |
|
Hydrocephalus, High palate, Short philtrum |
ORPHA:85335 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Hypospadias, High... |
ORPHA:464738 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Thin upper lip vermilion, Bicuspid aortic valve, Microdontia, Muscular ventricular septal defect,... |
OMIM:612474 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele |
OMIM:614416 |
| Duane-Radial Ray Syndrome |
|
Renal malrotation, Anal stenosis, Ventricular septal defect, Optic disc hypoplasia, Aganglionic m... |
OMIM:607323 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypochromic microcytic anemia, Anemia |
OMIM:619147 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Patent ductus arteriosus, Orofa... |
OMIM:243310 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
| Emanuel Syndrome |
|
Dental crowding, High palate, Atrial septal defect, Micropenis, Bifid uvula, Dandy-Walker malform... |
ORPHA:96170 |
| Burn-Mckeown Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft pa... |
OMIM:608572 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Absent pulmona... |
OMIM:600460 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Glycogen Storage Disease Iii |
|
Myopathy, Distal amyotrophy |
OMIM:232400 |
| Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Deep philtrum, Short philtrum... |
OMIM:300855 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hydrocephalus, Gingival overgrowth, Nephrotic syndrome, High palate |
OMIM:269920 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology |
ORPHA:3222 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Non-midline cleft lip, Hydrocephalus, Cleft palate, Do... |
ORPHA:2075 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Renal insufficiency, Aganglionic megacolon, Hydrocephalus, Nephropathy |
ORPHA:2318 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Flexion contracture, Myopathy, Weakness of facial musculature, Failure to thrive, Lethargy |
OMIM:201470 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst |
OMIM:263630 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hydrocephalus, Mitral valve prolapse |
ORPHA:2183 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia |
ORPHA:293967 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg... |
OMIM:609286 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Esophageal varix, Ventricular septal defect, Renal hypoplasia |
OMIM:616589 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, Abnormal dental enamel morphology, Hypospadias, Abno... |
ORPHA:96169 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Marden-Walker Syndrome |
|
Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ab... |
ORPHA:2461 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, E... |
OMIM:619424 |
| Tetraploidy |
|
Renal hypoplasia/aplasia, Cleft palate, Short philtrum, Aplasia/Hypoplasia affecting the eye, Hyd... |
ORPHA:3305 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Cleft lip, Pulmonary artery stenosis, Thick vermilion border... |
OMIM:280000 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, S... |
ORPHA:79083 |
| Majeed Syndrome |
|
Splenomegaly, Leukocytosis, Hypochromic microcytic anemia, Congenital hypoplastic anemia |
ORPHA:77297 |
| Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Cleft upper... |
OMIM:610443 |
| Distal Deletion 12Q |
|
Median cleft lip, Ectopic kidney, Esophageal atresia, High, narrow palate, Supernumerary tooth, P... |
ORPHA:96149 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
| Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, S... |
OMIM:201000 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Hypertriglyceri... |
ORPHA:2348 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Absent... |
ORPHA:284169 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hy... |
ORPHA:1596 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
| Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... |
ORPHA:2919 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy, Elevated c... |
OMIM:616538 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cleft palate, Micropenis, Unilateral cleft ... |
OMIM:616897 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Cleft lip, Patent ductus a... |
OMIM:618454 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, High palate, Narrow mouth |
ORPHA:2528 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Vascular dilatation |
ORPHA:2924 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:612530 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| 3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Deep philtrum, Pyloric ... |
ORPHA:435638 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia, Aortic aneurysm |
ORPHA:35125 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia |
ORPHA:2494 |
| Congenital Myopathy 16 |
|
EMG: myopathic abnormalities, Scapular winging, Flexion contracture |
OMIM:618524 |
| Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... |
ORPHA:139466 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Pseudoprogeria Syndrome |
|
Cranium bifidum occultum |
ORPHA:2985 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Oligodontia, Fused teeth, Atrial septal defect, Bifid uvula, Dandy-Walker malformat... |
OMIM:300166 |
| Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Anemia |
ORPHA:440713 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Hematuria, Lacunar stroke, Dilata... |
OMIM:611773 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Hypospadias, Cleft palate, Renal cyst, Colpocephaly, High palate, Poly... |
OMIM:614866 |
| Bresek Syndrome |
|
Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Renal hy... |
ORPHA:85284 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate |
ORPHA:945 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Renal agenesis, Patent ductus arteriosus, Hydrocephalus, Renal hypoplasia, Thin verm... |
ORPHA:171839 |
| Prune Belly Syndrome |
|
Hydroureter, Patent ductus arteriosus, Xerostomia, Congenital posterior urethral valve, Hydroneph... |
OMIM:100100 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
| Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Poor head control, Type 1 muscle fiber predominan... |
OMIM:612949 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3-Methylglutaric ac... |
ORPHA:26791 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Skeletal muscle hypertrophy, Firm muscles |
OMIM:255710 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Deep philtrum, Thick lower lip vermilion, Hydrocephalus, Thin vermilion border, Pu... |
ORPHA:2701 |
| Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement... |
ORPHA:98908 |
| Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Proximal muscle weakness, Gowers sign, Increased variability in muscle fiber diameter, Increased ... |
ORPHA:502423 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... |
OMIM:300048 |
| Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Ragged-red muscle fibers, Facial palsy, Muscle weakness |
OMIM:606407 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Cleft upper lip, Choroid... |
OMIM:603671 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Alg3-Cdg |
|
Coarctation of the descending aortic arch, Macroglossia, Cardiomyopathy, Neural tube defect, High... |
ORPHA:79321 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Downturned corners of mouth, Microphthalmia, Ventricular septal defect, Short philtrum |
ORPHA:93267 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Cleft palate, Abnormal h... |
ORPHA:453499 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil... |
OMIM:617056 |
| Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Abnormality of the kidney, Coarctation of aorta |
ORPHA:101028 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... |
ORPHA:2001 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Hydro... |
ORPHA:163979 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Renal agenesis, Abnormal renal collecting sy... |
OMIM:134780 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Cleft palate, Cleft upper lip |
ORPHA:398189 |
| Glycogen Storage Disease Xii |
|
Elevated circulating creatine kinase concentration, Myopathy, Hyperbilirubinemia, Increased varia... |
OMIM:611881 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Distal amyotrophy, Ophthalmoplegia, Muscle weakness, Fiber type grouping |
OMIM:271245 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Patent ductus arteriosus, Cle... |
OMIM:244300 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Centrally nucleated ske... |
OMIM:613327 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Hydronephrosis, Pulmonic stenosis |
OMIM:620141 |
| Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Ventriculomegaly, Thin vermilion border, Widely spaced... |
ORPHA:487825 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal dental morphology, Open bite, Dental malocclusion, Abnormal cardiac septum morphology, H... |
ORPHA:3079 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy, Ataxia, Gait ataxia |
ORPHA:363400 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts, Cleft palate |
ORPHA:66637 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Anophthalmia, Dental crowding, Hypospadias, C... |
OMIM:219000 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... |
OMIM:174300 |
| Congenital Myopathy 9A |
|
EMG: myopathic abnormalities, Obesity, Akinesia |
OMIM:618822 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, ... |
OMIM:617159 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Hypospadias, Deep philtrum, Patent ductus arteriosus, Double outlet ri... |
ORPHA:163956 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... |
OMIM:157800 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
| Griscelli Syndrome |
|
Encephalocele, Pyloric stenosis, Hydrocephalus |
ORPHA:381 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Dysplastic tricuspid val... |
OMIM:612863 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Ana... |
OMIM:619318 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Hydrocephalus, Renal hypoplasia, R... |
OMIM:210710 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of permanent tee... |
OMIM:618506 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Hydrocephalus, Es... |
OMIM:614576 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Dandy-Walker malformation, Tented upper lip vermilion, Ventricular septal defect, Dental crowding... |
OMIM:612582 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia, Abnormal oral frenulum morphology, Short philtrum, Cleft palate |
ORPHA:1617 |
| Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot, Cleft palate |
ORPHA:306542 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Ab... |
ORPHA:1507 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy |
OMIM:616549 |
| Dextrocardia |
|
Intestinal malrotation, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal renal morph... |
ORPHA:1666 |
| Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Pierre-Robin sequence, Cleft pal... |
OMIM:614921 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Ataxia, Cachexia, Inability to walk, Uppe... |
ORPHA:300605 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia |
OMIM:616278 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Abnormal renal morphology, Vesicoureteral refl... |
OMIM:609053 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Proximal muscle weaknes... |
ORPHA:70595 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti... |
ORPHA:3270 |
| Tarp Syndrome |
|
Meckel diverticulum, Subdural hemorrhage, Cleft palate, Tongue nodules, Horseshoe kidney, Glossop... |
OMIM:311900 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Neurogenic bladder, Anal stenosis, Vertebral artery hypoplasia, Dextrocardia, Unilateral vertebra... |
OMIM:613686 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Occipital encephalocele, Pyloric stenosis, Patent ductus arteriosus... |
OMIM:267750 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Ophthalmoparesis, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... |
ORPHA:168572 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, High palate, Short philtrum, Tetralogy of F... |
ORPHA:3306 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Optic disc pallo... |
OMIM:615512 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, High palate, Hydronephrosis |
ORPHA:85285 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Gingival overgrowth, Extra-axial cerebrospinal fluid accumulation, Long philtr... |
OMIM:619179 |
| Lateral Meningocele Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Patent duc... |
OMIM:130720 |
| Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakness, Facial pals... |
ORPHA:98915 |
| Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incisor, Hydronephr... |
OMIM:602418 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia |
OMIM:301015 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Abnormal dental morphology, Ventricular septal defect, Abnormal den... |
ORPHA:2092 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
| Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Cleft... |
OMIM:300712 |
| Robinow Syndrome |
|
Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Webbed penis, Mi... |
ORPHA:97360 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent duct... |
ORPHA:452 |
| Arima Syndrome |
|
Dilated fourth ventricle, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease... |
OMIM:243910 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Cleft palate |
OMIM:224400 |
| Chime Syndrome |
|
Ventricular septal defect, Abnormal dental morphology, Abnormality of the kidney, Abnormality of ... |
ORPHA:3474 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Hepatosplenomegal... |
ORPHA:367 |
| Chanarin-Dorfman Syndrome |
|
Myopathy, Ataxia |
OMIM:275630 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Renal hypoplasia, Everted lower lip vermili... |
ORPHA:75389 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,... |
OMIM:250790 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum |
OMIM:620393 |
| Unilateral Ocular Duplication |
|
Encephalocele, Median cleft lip, Cleft palate |
ORPHA:3374 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormally large globe, Secundum atrial sept... |
OMIM:249420 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,... |
OMIM:618460 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Enlarged kidney, Poly... |
OMIM:613091 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Hydrocephalus, Orofac... |
ORPHA:1454 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Subarachnoid hemorrhage, H... |
ORPHA:2356 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, High, narrow palate, Abnormality of dental eruption, Abnormal heart morphology, Wid... |
ORPHA:96092 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst, Abnormality of the dentition |
OMIM:615982 |
| Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Abnormality of the dentition, Pierre-Robin sequence, Thick lo... |
OMIM:617557 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Renal cyst |
OMIM:614870 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Skeletal muscle hypertrophy, Hypertriglyceridemia |
OMIM:613877 |
| Lowry-Maclean Syndrome |
|
Hypospadias, Delayed eruption of primary teeth, High, narrow palate, Pyloric stenosis, Talon cusp... |
ORPHA:2409 |
| Diencephalic Syndrome |
|
Hydrocephalus, Long penis, Everted lower lip vermilion |
ORPHA:1672 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hypoplasia of the iris, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Obesity, Abnormal granulocyte morphology, Myopathy, Shoulder girdle muscle weakness, Incr... |
ORPHA:98907 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... |
OMIM:190685 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Decreased muscle mass, Decreased muscle glycogen content, Upper l... |
ORPHA:263297 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Ventricular septal defect, Renal hypoplasia/aplasia, Non-midline cle... |
ORPHA:1770 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Deep philtrum, Cleft... |
ORPHA:404440 |
| Congenital Myopathy 19 |
|
Renal atrophy, High palate, Hydronephrosis |
OMIM:618578 |
| Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Hypospadias, Unilateral renal agenesis, Patent ductus... |
OMIM:616737 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Pierpont Syndrome |
|
Smooth philtrum, Micropenis, Prominent median palatal raphe, Thin vermilion border, Widely spaced... |
OMIM:602342 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... |
ORPHA:980 |
| Nephronophthisis 18 |
|
Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointe... |
OMIM:615862 |
| 3Q29 Microdeletion Syndrome |
|
Dental crowding, Hypospadias, Abnormality of the dentition, Patent ductus arteriosus, Orofacial c... |
ORPHA:65286 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Thin upper lip vermilion, Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Peripher... |
OMIM:300707 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Ascending aorta hypoplasia, Deep philtrum, Downturned corners of mouth, High pal... |
OMIM:619503 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dext... |
OMIM:618619 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Exaggerated cupid... |
OMIM:615879 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Elevated circulating creatine ... |
OMIM:617675 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
| Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate |
OMIM:619452 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly |
OMIM:300886 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts... |
OMIM:267010 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting |
OMIM:606408 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Ventriculomegaly, Deep philtrum, Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Wide... |
OMIM:617260 |
| Hydrolethalus |
|
Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Gingival cleft, Cleft pala... |
ORPHA:2189 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Left ventricular hypertrophy, Microphthalmia, Dandy-Walker malformation, Ventricul... |
OMIM:613153 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Abnormally large glo... |
OMIM:239300 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Renal dysplasia, Ventriculomegaly, Abnormality of the dentition, Patent ductus a... |
OMIM:300968 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Microdontia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Multiple bladde... |
ORPHA:2728 |
| Myotonic Dystrophy 2 |
|
Neck flexor weakness, Elevated circulating creatine kinase concentration, Proximal muscle weaknes... |
OMIM:602668 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation,... |
OMIM:614080 |
| Hamamy Syndrome |
|
Hypochromic anemia, Microcytic anemia |
OMIM:611174 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormality of the den... |
ORPHA:2315 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Lateral ventricle dilatation, Ventricular septal defect, Dextrotransposition of the ... |
OMIM:619995 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Microph... |
OMIM:601349 |
| 3Mc Syndrome 1 |
|
Ventricular septal defect, Dental crowding, Cleft upper lip, Cleft lip, Patent ductus arteriosus,... |
OMIM:257920 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Distal muscle weakness, External ophthalmoplegia, Ragged-red muscle fibers... |
ORPHA:298 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Dental malocclusion, Wide mouth, Thick vermilion... |
OMIM:610733 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Renal insufficiency, Ventriculomegaly, Hypospadias, Meningocele, Renal c... |
ORPHA:397715 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Hydrocephalus, Cleft palate, Tubulointerstitial nephritis, Enuresis, W... |
ORPHA:459061 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation, Dandy-Walker malformation |
ORPHA:3032 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
| Thanatophoric Dysplasia |
|
Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Ventric... |
ORPHA:2655 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Thin vermilion border |
ORPHA:1532 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Dandy-Wal... |
OMIM:614643 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Ventricular septal defect, Hypospadias, Bicuspid aortic valve, Patent d... |
OMIM:617751 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... |
OMIM:610188 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... |
OMIM:613870 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
| Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Dental malocclusion, Alveolar ridge overgrowth, Mitral valve prolapse,... |
ORPHA:444072 |
| Trisomy 18 |
|
Ventricular septal defect, Abnormality of the upper urinary tract, Spina bifida, Esophageal atres... |
ORPHA:3380 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
| Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart, Ventriculomegaly |
ORPHA:2772 |
| Fg Syndrome Type 1 |
|
Ventriculomegaly, Dental crowding, Optic nerve hypoplasia, Abnormal large intestine morphology, H... |
ORPHA:93932 |
| Dystonia 7, Torsion |
|
Skeletal muscle hypertrophy, Torticollis |
OMIM:602124 |
| Recombinant 8 Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Cleft upper lip, Abnormality of the dentiti... |
ORPHA:96167 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
| Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Tracheoesophageal fistula, Re... |
ORPHA:1834 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Abnormal... |
ORPHA:500159 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Increased CSF lactate |
OMIM:616277 |
| Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias, Cleft lip, Pul... |
OMIM:611812 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve... |
OMIM:619472 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningoc... |
ORPHA:1393 |
| Sengers Syndrome |
|
Myopathy, Thrombocytopenia |
OMIM:212350 |
| Distal Duplication 6P |
|
Renal hypoplasia, Abnormality of the urinary system, Thin vermilion border, Narrow mouth, Aplasia... |
ORPHA:1745 |
| Carnitine Deficiency, Systemic Primary |
|
Myopathy, Failure to thrive, Lethargy, Reduced muscle carnitine level |
OMIM:212140 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i... |
ORPHA:590 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Microcytic anemia, Leukocytosis, Anemia, Abnormal isohemagglutinin level |
ORPHA:99843 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef... |
ORPHA:107 |
| Temtamy Syndrome |
|
Dental crowding, Hypoplasia of teeth, Long philtrum, Microphthalmia, Ventriculomegaly, Aortic ane... |
OMIM:218340 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology, Hydronephrosis, Abnormal heart morphology |
ORPHA:531151 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Conical tooth, Widely spaced teeth, Microphthalmia, Broad philtrum |
OMIM:613451 |
| Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Vasculitis, Hematuria, Aortic dissection, Glossitis, Abdominal... |
ORPHA:397 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Cleft palate,... |
OMIM:612562 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hypospadias, Hydrocephalus, Abnormal heart morphology, Everted lower lip vermilion... |
OMIM:601499 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
| Lambotte Syndrome |
|
Semilobar holoprosencephaly, Ventricular septal defect, Narrow mouth |
OMIM:245552 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtrum, Patent ductus arteri... |
OMIM:615398 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:606482 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
| H Syndrome |
|
Hepatosplenomegaly, Histiocytosis, Microcytic anemia |
ORPHA:168569 |
| Short Stature And Facioauriculothoracic Malformations |
|
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:609654 |
| Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Bilateral microphthalmos, Microglossia, Cleft palate, Hydranencephal... |
ORPHA:2839 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Ventricular septal defect, Broad alveolar ridges |
OMIM:314320 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Hypertrophy of the urinary bladder, High palate, Atrial septal defect... |
ORPHA:280633 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Smooth philtrum |
OMIM:614526 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Myopathy, Increased variability in muscle fiber diameter |
OMIM:604377 |
| Wolcott-Rallison Syndrome |
|
Atrial septal defect, Renal insufficiency, Double outlet right ventricle, Chronic kidney disease |
ORPHA:1667 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Diastema, Patent duct... |
ORPHA:329224 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Renal hypoplasia, Lateral ventricle dilatation, Umbilical hernia, Pulmonic stenosi... |
OMIM:618914 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Cleft palate |
OMIM:614120 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta, Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular ao... |
OMIM:217085 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis |
OMIM:620327 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Eosinophilic infiltration of the esophagus, Multiple muscular ventricular septal defects, Pulmoni... |
OMIM:615508 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ... |
OMIM:617168 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Renal hypoplasia/aplasia, Non-midline cleft lip, Cleft palate, Orofa... |
ORPHA:2549 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Secundu... |
OMIM:619951 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Thin upper lip vermilion, Hiatus hernia, Pancreatic cysts, Renal cyst, Buphthalmos, Polycystic ki... |
OMIM:610199 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Thin vermilion border, Long philtrum, ... |
ORPHA:85194 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose vein... |
OMIM:153400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg... |
OMIM:615287 |
| Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Micr... |
OMIM:601005 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, High, narrow palate, Pyloric stenosis, Renal hypoplasia, Cleft palate,... |
OMIM:248700 |
| Fraser Syndrome |
|
Encephalocele, Anal stenosis, Anophthalmia, Dental crowding, Hypoplasia of penis, Multicystic kid... |
ORPHA:2052 |
| Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Hypospadias, Cleft upper lip, Cl... |
ORPHA:2008 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis, Increased CSF lactate |
OMIM:618240 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Broad secondary alveolar ridge, High palate, Ventricular septal defect |
ORPHA:3369 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Ab... |
ORPHA:251071 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Protruding tongue, Conotruncal defect, Coarctation of a... |
ORPHA:96147 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Malabsorption, Pyloric sten... |
ORPHA:912 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Pierre-Rob... |
OMIM:611209 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Renal cyst, Hyperechogenic kidneys |
OMIM:615636 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Unsteady gait, Knee flexion contracture, Calf muscle hypertr... |
OMIM:618733 |
| Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Ataxia, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness,... |
ORPHA:254892 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Mildly elevated creatine kinase |
OMIM:600705 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Cleft lip, Patent ductus arteriosus, Narrow palate, Cleft palate, Pulmonic stenosis, Atrial septa... |
OMIM:618223 |
| Cystinosis |
|
Myopathy, Failure to thrive, Gait disturbance |
ORPHA:213 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Aortic valve stenosis, Pulmonic sten... |
OMIM:615415 |
| Snakebite Envenomation |
|
Hyponatremia, Respiratory paralysis, Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
| 3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anu... |
ORPHA:251038 |
| Immunodeficiency 10 |
|
Myopathy, Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
| 20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic... |
ORPHA:261311 |
| Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia, Ventriculom... |
OMIM:614583 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... |
OMIM:615102 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Seckel Syndrome 2 |
|
Hypospadias, Ectopic kidney, Microdontia, Microphthalmia, Microglossia |
OMIM:606744 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Deep philtrum, Non-midline cleft lip, Orofacial cle... |
ORPHA:1297 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Inte... |
OMIM:618280 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
| 46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
| 7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Unilateral renal age... |
ORPHA:96121 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Granulocytopenia |
OMIM:606164 |
| Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Abnormal circulating lipid concentration, Elevated circu... |
ORPHA:206572 |
| Trisomy 8P |
|
Dandy-Walker malformation, Abnormal atrioventricular connection, Fetal pyelectasis, Malrotation o... |
ORPHA:264450 |
| Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Microdontia, Non-midline cleft lip, Cleft palate, Atrial septal defect,... |
ORPHA:1915 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Ventricular septal defect, Optic ... |
OMIM:617506 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Cleft l... |
OMIM:619343 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria |
OMIM:274270 |
| Warsaw Breakage Syndrome |
|
Wide mouth, High palate, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Hypomagnesemi... |
ORPHA:79102 |
| 15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt... |
ORPHA:261190 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
| Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Long penis, Hy... |
OMIM:268300 |
| Filippi Syndrome |
|
Ventricular septal defect, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrat... |
OMIM:272440 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Joubert Syndrome 37 |
|
Microphthalmia, Micropenis, High palate, Hydronephrosis |
OMIM:619185 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
| Hardikar Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Cleft soft ... |
OMIM:301068 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Ventriculomegaly, Stomach cancer, Cleft palat... |
ORPHA:1052 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormality of the kidney, Protruding tongue, Hydrocephalus, Gingival ov... |
ORPHA:93400 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Volvulus |
ORPHA:314621 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... |
ORPHA:352665 |
| Ovarian Fibrothecoma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Ventricular septal defect, Cleft soft palate, Ectopic kidney, Carious teeth, Cleft... |
OMIM:117650 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Abnormality of the gingiva, Absent cupid'... |
ORPHA:513456 |
| Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Abnormal heart morphology, Vesicoureteral reflux, Microph... |
ORPHA:494344 |
| Stromme Syndrome |
|
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Hydrocephalus, Bilateral renal h... |
OMIM:243605 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Thin upper lip vermilion, Abnormal heart valve morphology, Cleft lip, Malrotation of small bowel,... |
ORPHA:2953 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria, Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cleft lip, Deep philtrum, Cleft palate, Abnormal heart morphology, Downturned corners of mouth, L... |
OMIM:618571 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Glandular hypospadias, Cleft palate, Glo... |
ORPHA:1358 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Dental crowding, Intestinal malrotation, Hypospadias, Carious teeth, C... |
OMIM:617602 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Cleft palate, Extra-axial cerebrospinal fluid a... |
OMIM:614261 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Methylmalonic aciduria, Eleva... |
OMIM:614105 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
High palate, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly |
OMIM:304100 |
| Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy |
OMIM:601419 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni... |
OMIM:617516 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Aceruloplasminemia |
|
Refractory anemia, Hypochromic microcytic anemia |
ORPHA:48818 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... |
OMIM:609192 |
| Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Pulmonary artery sling, Narro... |
OMIM:619268 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
| Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upper lip, Cleft palat... |
OMIM:614294 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Hypospadias, Protruding tongue, High, narrow palate, Patent ductus art... |
OMIM:214100 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, High, na... |
ORPHA:91387 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, Microphthalmia, High palate, Cleft palate |
ORPHA:1135 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Aortic root aneurysm, Short philtrum, Atrial septal defect, Open mouth |
OMIM:301039 |
| Transaldolase Deficiency |
|
Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Coarctation of aorta, Wide mo... |
OMIM:606003 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia |
ORPHA:79096 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Agenesis of permanent teeth, Microphthalmia, Pelvic kidney, Anal atresia |
OMIM:617244 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great arteries, Open ... |
OMIM:616789 |
| Baller-Gerold Syndrome |
|
Malabsorption, Abnormality of the ureter, Cleft palate, Abnormal localization of kidney, Anterior... |
ORPHA:1225 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Intestinal malrotation, Crossed fused... |
ORPHA:2538 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Thick lower lip vermi... |
OMIM:619103 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Char Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar... |
ORPHA:46627 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... |
OMIM:619040 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Hypospadias, Cleft upper lip, Conical tooth,... |
OMIM:106260 |
| Hereditary Hemorrhagic Telangiectasia |
|
Microcytic anemia |
ORPHA:774 |
| Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Uterus didelphys |
ORPHA:1756 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... |
ORPHA:2791 |
| Tetrasomy 9P |
|
Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Patent for... |
ORPHA:3310 |
| Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, High palate, Atrioventricular canal defect, Aplasia/Hypoplasia of the optic n... |
ORPHA:40366 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias, Nephroblastoma, Hydrocephalus, Cleft... |
OMIM:257300 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W... |
OMIM:618067 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Increased CSF lactate, Cardiomyopathy, Renal t... |
OMIM:614922 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Fetal pyelectasis... |
ORPHA:49 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Extra-axial cerebrospinal fluid accumulation, High palat... |
OMIM:618798 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Rhabdomyolysis, Myopathy, Lethargy, Failure to thrive |
OMIM:609015 |
| Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Holoprosencephaly, Vesicoureteral reflux, Micropenis, Dandy-Wa... |
ORPHA:138 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... |
ORPHA:42775 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Trisomy 20P |
|
Smooth philtrum, Hypospadias, Abnormality of the kidney, Spina bifida, Abnormality of the dentiti... |
ORPHA:261318 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventriculomegaly, Ventricular septal defect, Intestinal malrotation... |
ORPHA:2308 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Median cleft lip, Abnormal cerebral vascular morphology, Cleft palate, Holop... |
ORPHA:2165 |
| Au-Kline Syndrome |
|
Chronic kidney disease, Dental malocclusion, Dilatation of the renal pelvis, Cleft palate, Lipomy... |
OMIM:616580 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia, Enlarged sylvian cistern, Thin vermilion border, Narrow mouth |
OMIM:600118 |
| Holoprosencephaly 3 |
|
Cleft lip, Cleft palate, Hydronephrosis, Holoprosencephaly, Solitary median maxillary central inc... |
OMIM:142945 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Bilateral microphthalmos, Abnormal heart morphology, Downturned corner... |
ORPHA:369891 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
| Doors Syndrome |
|
Short lingual frenulum, Downturned corners of mouth, Nephrocalcinosis, Widely spaced teeth, High ... |
ORPHA:79500 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Encephalocele, Hypospadias, Epispadias, Exencephaly, Long philtrum |
ORPHA:2211 |
| Tarp Syndrome |
|
Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Tongue nodules, Horseshoe kidney,... |
ORPHA:2886 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect |
OMIM:620184 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c |
OMIM:609812 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Renal cyst, Polycystic ovar... |
ORPHA:137675 |
| Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Wide mouth, Macroglossia, Short philtrum, Lo... |
OMIM:615668 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Narrow mouth |
OMIM:224410 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of to... |
OMIM:269860 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microdontia, Microphthalmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa... |
DECIPHER:81 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
| Fryns Syndrome |
|
Ureteral duplication, Dandy-Walker malformation, Tented upper lip vermilion, Ventricular septal d... |
OMIM:229850 |
| Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Patent ductus arteriosus, P... |
OMIM:300963 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Holoprosencephaly, Atrial septal defect, Advanced eruption of teeth, Atriove... |
ORPHA:818 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
| Kearns-Sayre Syndrome |
|
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Muscle weakness |
OMIM:530000 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
| Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Dandy-Walker malformation, Multicystic kidney dysplasia, Abnormal ... |
ORPHA:2750 |
| Chromosome 18Q Deletion Syndrome |
|
U-Shaped upper lip vermilion, Thin upper lip vermilion, Absence of the pulmonary valve, Ventricul... |
OMIM:601808 |
| Poland Syndrome |
|
Duplicated collecting system, Encephalocele, Hypospadias, Dextrocardia, Renal hypoplasia/aplasia,... |
ORPHA:2911 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Renal hypoplasia, Narrow mouth, Vesicoureteral reflux, Hydronephrosis, ... |
OMIM:613735 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Hydrocephalus, High palate, Open mouth, Thick upper lip vermilion |
OMIM:300558 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Micropenis, Gingival bleeding, Left ventricular hypertrophy, Microphtha... |
ORPHA:335 |
| Monosomy 18P |
|
Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodontia, Holoprosenc... |
ORPHA:1598 |
| Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Dental crowding, Pierre-Robin sequence, Choroid plexus cyst, Cleft pal... |
OMIM:617201 |
| Adrenomyodystrophy |
|
Myopathy, Failure to thrive |
ORPHA:977 |
| Steinfeld Syndrome |
|
Abnormal heart morphology, Holoprosencephaly, Microphthalmia, Unilateral renal dysplasia, Bifid u... |
OMIM:184705 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Coarctat... |
OMIM:617729 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... |
OMIM:154230 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia |
ORPHA:89937 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
| Fanconi Anemia |
|
High palate, Atrial septal defect, Hypospadias, Spina bifida, Aplasia/Hypoplasia of the uvula, Pa... |
ORPHA:84 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:435660 |
| Idiopathic Camptocormia |
|
Myositis, Elevated circulating creatine kinase concentration, Fatigable weakness of skeletal musc... |
ORPHA:1320 |
| Mesomelia-Synostoses Syndrome |
|
Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Abnormal oral frenulum morpho... |
ORPHA:2496 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Microphthalmia |
OMIM:615771 |
| Polymyositis |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Abnormal muscle fib... |
ORPHA:732 |
| Say Syndrome |
|
Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia |
OMIM:181180 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Desmosterolosis |
|
Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia, Patent ductus arteriosus, Submu... |
ORPHA:35107 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
| Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Nephrolithiasis... |
OMIM:217090 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Elevated circulating creatine kina... |
OMIM:619743 |
| Mosaic Trisomy 16 |
|
Single coronary artery origin, Ventricular septal defect, Hypospadias, Large placenta, Patent duc... |
ORPHA:1708 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia |
OMIM:613309 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Multicystic kidney dysplasia, Ventricular septal defect, Dental crowd... |
OMIM:300373 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
| Vexas Syndrome |
|
Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect, Proteinuria, Hematuria, Tubulointerstitial nephritis, Dan... |
OMIM:616901 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Aplasia/Hypoplas... |
ORPHA:1895 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... |
ORPHA:2255 |
| Microform Holoprosencephaly |
|
Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Orofacial cleft, Cleft palate, S... |
ORPHA:280200 |
| Cofs Syndrome |
|
Microphthalmia, Everted lower lip vermilion |
ORPHA:1466 |
| Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Ventriculomegaly, Dextrocardia, Intestinal malrotation, Unilateral ren... |
OMIM:620305 |
| Braddock-Carey Syndrome 2 |
|
Wide mouth, Microphthalmia, Pierre-Robin sequence, Cleft palate |
OMIM:619981 |
| Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft upper lip, Rectourethral ... |
OMIM:300000 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pyloric stenosis, Cleft palate, Perimembranous ventricular septal defect, Narrow mouth, Micropeni... |
ORPHA:83617 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Tented upper lip vermilion, Hypospadias, Unilateral r... |
ORPHA:487796 |
| Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, High,... |
OMIM:188400 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... |
ORPHA:97339 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody level |
OMIM:226300 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
| Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:615279 |
| Knobloch Syndrome 2 |
|
Patent ductus arteriosus, Pyloric stenosis, Enamel hypoplasia, Encephalocele |
OMIM:618458 |
| Gaucher Disease, Type Ii |
|
Double aortic arch |
OMIM:230900 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thin upper lip vermilion, Dextrocardia, Micropenis, Coarctation of aorta, High palate, Short phil... |
OMIM:618929 |
| Chylomicron Retention Disease |
|
Myopathy, EMG: myopathic abnormalities, Failure to thrive, Acanthocytosis |
ORPHA:71 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Abnormal cardiac septum morphology, Vesicoureteral reflux, Tooth malpo... |
ORPHA:2484 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
| Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Muscular ventricular septal defect, High palate, Long p... |
OMIM:278250 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,... |
OMIM:236680 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Rhabdomyolysis, Skeletal myopathy, Tip-toe gait, Left ventricular h... |
ORPHA:746 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect, Intestinal malrotation, Wide mouth, Micropenis, Hydronephrosis, Duoden... |
OMIM:617798 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Optic nerve hypoplasia, High, narrow palate, Everted lower lip vermilio... |
OMIM:612513 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia |
ORPHA:2256 |
| Woods Syndrome |
|
Thin vermilion border, Ventricular septal defect |
OMIM:615236 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morphology, Ascending aort... |
ORPHA:141127 |
| Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Agene... |
ORPHA:141099 |
| Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Myelomeningocele, Aplasia/Hypoplasia affecting the eye, Hydrocephalus |
ORPHA:1914 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula |
OMIM:619083 |
| Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
| Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... |
OMIM:617982 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus... |
OMIM:147250 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Spina bifida occulta, Hydronephrosis |
OMIM:618060 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Ischemic stroke, L... |
ORPHA:90065 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Abnormal medullary pyramid morphology, Increased CSF lactate, Lateral ... |
ORPHA:79243 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena... |
ORPHA:464311 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF lysine concentr... |
OMIM:616034 |
| Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Anal stenosis, Crossed fused renal ectopia, Ventricular septa... |
OMIM:147920 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Cor triatriatum, Prominent superficial veins, Secundum atrial... |
OMIM:612541 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
| Melas |
|
Ataxia, Ragged-red muscle fibers, Optic atrophy, Myopathy, EEG abnormality, Gait disturbance, Fai... |
ORPHA:550 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Renal cyst, Holoprosencephaly, Atrial septal defect, Micropenis, Bifid uvula, Pe... |
OMIM:270400 |
| Desmoid Tumor |
|
Intestinal polyposis, Intestinal obstruction, Abnormality of the upper urinary tract, Malabsorpti... |
ORPHA:873 |
| Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Calcificatio... |
OMIM:231005 |
| Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Diastasis recti, Skeletal muscle hypertrophy, Distal lower limb muscle wea... |
ORPHA:3101 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Ventric... |
ORPHA:1860 |
| Pfeiffer Syndrome Type 3 |
|
Intestinal malrotation, Aqueductal stenosis, Cleft palate, Horseshoe kidney, High palate, Vesicou... |
ORPHA:93260 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... |
OMIM:614749 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Multicystic kidney dysplasia, Hydrocephalus, Orofacial cleft, Narrow mouth... |
ORPHA:3301 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta... |
OMIM:607426 |
| Roberts Syndrome |
|
Cleft upper lip, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia, Microphthalmia |
ORPHA:3103 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Arteria lusoria, Anteriorly placed anus, High palate, Vesicoureteral reflux, Micropenis, Pelvic k... |
OMIM:618653 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Narrow palate, Micropenis, Short upper lip, Thick vermilion border, Short philtrum, Macrodontia o... |
ORPHA:364028 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, High, narrow palate, Hydrocephalus, Renal tubular acidosis, Lateral ve... |
OMIM:619575 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morpho... |
ORPHA:261197 |
| Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, High, nar... |
OMIM:614816 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Widely-spaced incisors |
OMIM:300915 |
| Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, C... |
ORPHA:2331 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis, Ventriculomegaly |
OMIM:308350 |
| Peters Plus Syndrome |
|
Ureteral duplication, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely spaced... |
ORPHA:709 |
| Pseudoachondroplasia |
|
Waddling gait, Skeletal myopathy |
ORPHA:750 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Optic atrophy, Hypsarrhythmia, Chor... |
ORPHA:506 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis, Cleft palate |
OMIM:618265 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Hypospadias, Abnormality of t... |
ORPHA:568 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventriculomegaly, Ventricular septal defect, Hypospadias, Cleft lip, Patent ductus arteriosus, Re... |
OMIM:616975 |
| Fanconi Anemia, Complementation Group F |
|
Patent ductus arteriosus, Vesicoureteral reflux, Renal hypoplasia, Microphallus, Atrial septal de... |
OMIM:603467 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... |
OMIM:608670 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Macular hypoplasia, Atrial septal defec... |
OMIM:615219 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Meningocele, Renal cyst, Glossoptosis, Ventriculomegaly |
ORPHA:2031 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
| 16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Exaggerated cupid's bow, Ventricular septal defect, C... |
ORPHA:261236 |
| Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Unilateral renal agenesis, Hydrocephalus, Open mouth, Ventriculomegaly |
OMIM:616362 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard palate, Dental maloc... |
OMIM:115150 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Hypospadias, Abnorma... |
OMIM:235730 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Deep philtrum, Ascending tu... |
OMIM:309520 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Bilateral cleft lip and palate, Thin vermilion border, High palate,... |
OMIM:618829 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Iron deficiency anemia |
OMIM:607906 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly, Broad philtrum, Long philtrum |
OMIM:618577 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Poor head control, Hypoplasia of the musculature, Ankle flexion contracture, Res... |
ORPHA:2020 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Type 2 muscle fiber a... |
OMIM:613845 |
| 15Q Overgrowth Syndrome |
|
Dental crowding, Ureterovesical stenosis, High, narrow palate, Hydrocephalus, Abnormal renal morp... |
ORPHA:314585 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Macroglossia, Va... |
OMIM:617107 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Alg9-Cdg |
|
Thin upper lip vermilion, Villous atrophy, Hypoplasia of the bladder, Ventricular septal defect, ... |
ORPHA:79328 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... |
OMIM:619534 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Bradykinesia, Progressive gait ataxia, Abnormal autonomic nervous system... |
ORPHA:97355 |
| Frontofacionasal Dysplasia |
|
Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, Microphthalmia, Bifid uvula |
OMIM:229400 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate |
ORPHA:52055 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, Interrupted inferior vena cava with a... |
OMIM:206920 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, ... |
OMIM:613404 |
| Tumoral Calcinosis, Normophosphatemic, Familial |
|
Calcinosis |
OMIM:610455 |
| Monosomy 22 |
|
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
| Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper... |
ORPHA:2729 |
| Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Aortic root an... |
OMIM:145420 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Cleft lip, Patent ductus arteriosus, Dental m... |
OMIM:616894 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age... |
ORPHA:411709 |
| Alagille Syndrome |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrom... |
ORPHA:52 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Renal hypoplasia/aplasia, Thin vermilion border, Long philtrum, Microphtha... |
ORPHA:1438 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Pyloric stenosis, Patent ductu... |
ORPHA:464306 |
| Faciocardiorenal Syndrome |
|
Cleft palate, Horseshoe kidney, Endocardial fibroelastosis, Hypodontia, Tricuspid valve prolapse,... |
ORPHA:1973 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Polycystic kidney dysplasia, Vesicovagi... |
OMIM:236700 |
| Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Persistence of primary teeth, C... |
OMIM:305620 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Deep philtrum, Umbilical hernia, High palate... |
OMIM:613884 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Multicystic kidney dysplasia, Long philtrum, Atrial septal defect, Hyd... |
ORPHA:85201 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ophthalmoplegia, Ragged-red muscle fibers, Poor head control, Elevated circulating alpha-fetoprot... |
OMIM:614924 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias, Anal atresia |
OMIM:312190 |
| Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Thick lower lip vermi... |
OMIM:618027 |
| Ogden Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, High, narrow palate, Pulmonary artery ste... |
ORPHA:276432 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea, Lymph... |
OMIM:602579 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Thrombocytopenia |
OMIM:618775 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp... |
OMIM:615355 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... |
ORPHA:2847 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypertriglyceridemia |
ORPHA:435651 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventriculomegaly, Hydrocephalus, Submucous cleft hard palate, ... |
ORPHA:899 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Coarct... |
ORPHA:2780 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Myopathy, EMG: myopathic abnormalities, Failure to thrive, Thrombocytopenia |
ORPHA:99901 |
| Seckel Syndrome 9 |
|
Recurrent urinary tract infections, Ventricular septal defect, Pulmonary artery hypoplasia, Atria... |
OMIM:616777 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Choreoathetosis, Myopathy... |
OMIM:234200 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Neu-Laxova Syndrome 1 |
|
Ventriculomegaly, Ventricular septal defect, Renal agenesis, Spina bifida, Swollen lip, Cleft upp... |
OMIM:256520 |
| Temple Syndrome |
|
Hydrocephalus, Cleft palate, High palate, Short philtrum, Bifid uvula |
OMIM:616222 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Myopathy, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Abnormality of the ureter, Narrow palate, Aplasia of the bladder, High palate, Po... |
OMIM:200980 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Colpocephaly, High palate, Thick vermilion b... |
OMIM:620113 |
| Shox-Related Short Stature |
|
Skeletal muscle hypertrophy |
ORPHA:314795 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Bilateral renal hypoplasia, Cleft maxillary alveolar ridge, Vesicoureteral reflux... |
ORPHA:508488 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Short phi... |
OMIM:620156 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Hydranencephaly, Renal dysplasia |
OMIM:236500 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Narrow mouth, Patent ductus arteriosus, Hyp... |
ORPHA:2962 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... |
OMIM:615994 |
| Cousin Syndrome |
|
Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Hydranencephaly, Microphthalmia, Microglo... |
OMIM:260660 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
| Micro Syndrome |
|
Hypoplasia of penis, Abnormal localization of kidney, High palate, Short philtrum, Microphthalmia... |
ORPHA:2510 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Hypochromic anemia |
ORPHA:99147 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate,... |
OMIM:618874 |
| Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Hydroc... |
ORPHA:137667 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Unilateral renal agenesis, Hydrocephalus, Hypoplastic aortic arch, Open m... |
ORPHA:457284 |
| Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Esophageal atresia, Patent ductus a... |
OMIM:227646 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Umbilical hernia, M... |
OMIM:169400 |
| Familial Isolated Hypoparathyroidism |
|
Myopathy |
ORPHA:2238 |
| Kabuki Syndrome 2 |
|
Natal tooth, Lower lip pit, Dental malocclusion, Cleft palate, Horseshoe kidney, Coarctation of a... |
OMIM:300867 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... |
ORPHA:2973 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular... |
OMIM:208085 |
| Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
| Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide mouth, Hydrocephalus |
OMIM:616521 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Wide mouth, Hydrocephalus, Arteriovenous malformation, Ventriculomegaly |
ORPHA:60040 |
| Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Carious teeth, S... |
ORPHA:90324 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Highly el... |
ORPHA:258 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Patent ductus arteriosus, O... |
OMIM:617061 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Hydrocephalus, Submucous cleft hard palate, High palate, Pulmoni... |
ORPHA:1340 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia |
OMIM:191830 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Patent ductus arteriosus, Long philtrum, Atrial septal defect, Patent ... |
OMIM:618870 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Ventricular septal defect, Lateral ventricle dilatation, Vesicoureteral... |
ORPHA:3078 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Aniridia, Microphthalmia, Micropenis, Ankyloglossia |
OMIM:602361 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
High palate, Hydronephrosis, Cleft palate |
ORPHA:488613 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Ventriculomegaly |
ORPHA:48431 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth, Abnormal renal morphol... |
OMIM:610253 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus |
OMIM:146255 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Elevated circulating crea... |
OMIM:255800 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Patent ductus arteriosu... |
ORPHA:369837 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula... |
OMIM:613154 |
| Jansen-De Vries Syndrome |
|
Wide mouth, Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
| Desmosterolosis |
|
Patent ductus arteriosus, Hydrocephalus, Gingival fibromatosis, Alveolar ridge overgrowth, Cleft ... |
OMIM:602398 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
| Orofaciodigital Syndrome Vi |
|
Renal agenesis, Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Coar... |
OMIM:277170 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Hydrocephalus, Umbilical hernia |
ORPHA:2181 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia |
OMIM:619525 |
| Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
| Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Hypospadias, Phimosis, Situs in... |
OMIM:309500 |
| Rhombencephalosynapsis |
|
Septo-optic dysplasia, Ventriculomegaly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus... |
ORPHA:59315 |
| Joubert Syndrome 22 |
|
Microphthalmia, Renal hypoplasia |
OMIM:615665 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| Brachydactyly, Type B1 |
|
Micropenis, Delayed eruption of permanent teeth, Ventricular septal defect |
OMIM:113000 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia, Optic nerve hypoplasia |
OMIM:617914 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Narrow mouth, Hydrocephalus, Cardi... |
ORPHA:77301 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microdontia, Microphthalmia, Widely spaced teeth |
OMIM:619694 |
| Toluene Embryopathy |
|
Thin vermilion border, Abnormal localization of kidney, Hydronephrosis, Smooth philtrum |
ORPHA:1920 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Failure to thrive, Small for gestational age, Decreased activity of mito... |
OMIM:615471 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, Widely spaced teeth... |
OMIM:122470 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart v... |
ORPHA:289 |
| Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Occipital meningocele, Bilateral cleft lip, Alobar holo... |
OMIM:610828 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Ventriculomegaly, Optic nerve hypoplasia, Everted lower lip vermili... |
ORPHA:261349 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus... |
ORPHA:261337 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Wide... |
ORPHA:261250 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Abnormal de... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Abnormal de... |
ORPHA:363958 |
| Joubert Syndrome 8 |
|
Occipital encephalocele |
OMIM:612291 |
| Mcleod Syndrome |
|
Splenomegaly, Rhabdomyolysis, Myopathy, Acanthocytosis |
OMIM:300842 |
| C Syndrome |
|
Ventricular septal defect, Accessory oral frenulum, Patent ductus arteriosus, Renal cortical cyst... |
OMIM:211750 |
| Codas Syndrome |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Ventricular septal defect, Ab... |
ORPHA:1458 |
| Abetalipoproteinemia |
|
Reticulocytosis, Broad-based gait, Failure to thrive, Ataxia, Acanthocytosis, Dysmetria, Gait ata... |
ORPHA:14 |
| Scleromyxedema |
|
Myopathy, Abnormality of central nervous system electrophysiology, Abnormal skeletal muscle morph... |
ORPHA:167635 |
| Raine Syndrome |
|
Natal tooth, Hydroureter, Protruding tongue, Hydrocephalus, Gingival overgrowth, Cleft palate, Wi... |
OMIM:259775 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Progressive external ophthalmoplegia, Elevated circulating deoxyuridine concentration, Distal mus... |
OMIM:603041 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, High palate, Long philtrum, Atrial septal de... |
OMIM:617452 |
| Coffin-Siris Syndrome 1 |
|
Conical tooth, Ectopic kidney, Short philtrum, High palate, Atrial septal defect, Microdontia, Sp... |
OMIM:135900 |
| Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
| Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber predominance, Congenital contracture, Type 1 muscle fiber atrophy, Type 2 mus... |
OMIM:619036 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Cleft palate, Oligosacchariduria, Downturned corners of mouth, High palate, Long philtrum, Microp... |
ORPHA:163649 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Thick vermilion border, Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Pyloric stenosis, Rectal prolapse, Multiple bladder diverti... |
OMIM:613177 |
| Omodysplasia 2 |
|
Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis |
OMIM:164745 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Narrow mouth, Hydrocephalus, Cleft p... |
OMIM:245600 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Microphthalmia, V... |
OMIM:214150 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... |
OMIM:557000 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Atrial septal defect, Exaggerated median tongue furrow, Hypospadias, Patent ductus ar... |
OMIM:312870 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Patent d... |
OMIM:610759 |
| Floating-Harbor Syndrome |
|
Thin upper lip vermilion, Hypospadias, Celiac disease, Carious teeth, Glandular hypospadias, Coar... |
OMIM:136140 |
| Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Aganglionic megacolon, Unilateral renal agenesis, Cleft upper lip, Aqu... |
OMIM:154400 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
| Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Anomalous pulmonary ven... |
OMIM:616368 |
| Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Hepatosplenomegaly |
ORPHA:99931 |
| Atelosteogenesis, Type I |
|
Encephalocele, Cleft palate |
OMIM:108720 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, EEG with burst suppression |
OMIM:617713 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Ventriculomegaly |
ORPHA:2083 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Myopathy, Thrombocytopenia |
ORPHA:169090 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Metatropic Dysplasia |
|
Hydrocephalus, Cleft palate |
ORPHA:2635 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
| Coach Syndrome 2 |
|
Hyperechogenic kidneys, Hydrocephalus |
OMIM:619111 |
| Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Nephrogenic rest, ... |
OMIM:267000 |
| 19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft palate, Thin vermilion border, Hypodontia, Long phi... |
ORPHA:254346 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Ab... |
ORPHA:363700 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Thin upper lip vermilion, Ventricular septal defect, Downturned cor... |
OMIM:616651 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Cleft palate, Horseshoe kidney, Abnormal cardiac septum morphology, Ax... |
ORPHA:3320 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec... |
ORPHA:373 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Downturned corners o... |
OMIM:617360 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Increased CSF methionine concentration, Pulmonic stenosis, Coarcta... |
OMIM:614300 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Hepara... |
OMIM:309900 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Pyloric stenosis, Hydrocephalus, Macular hypoplasia, Holo... |
OMIM:147791 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Aortic ... |
OMIM:616914 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... |
OMIM:616564 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Branchial fistula, Ventricular sept... |
ORPHA:261330 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer |
OMIM:135150 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Wide mouth, Ventricular septal defect, Widely-spaced incisors |
OMIM:617635 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Micropenis, Cardiomyopathy, High palate, Short philtrum, Long philtrum,... |
OMIM:212720 |
| Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... |
ORPHA:449395 |
| Cohen Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dent... |
ORPHA:193 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Gingival fibromatosis, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma,... |
OMIM:191100 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias... |
OMIM:206900 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Microphthalmia, Hydrocephalus, Short philtrum |
ORPHA:163966 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating IgA level, Microcytic anemia, Splenomegaly, Increased circulating IgG level... |
OMIM:256040 |
| Toriello-Carey Syndrome |
|
Dandy-Walker malformation, Ventriculomegaly, Aganglionic megacolon, Patent ductus arteriosus, Cle... |
ORPHA:3338 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal duplication, Oral mucosal blisters, Urinary bladder inflammation, Conge... |
ORPHA:79403 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an... |
ORPHA:99867 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Ventricular septal defect, Hypoplasia of teeth |
OMIM:234050 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... |
OMIM:254940 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, Eosinophilic infiltrati... |
OMIM:615582 |
| X Small Rings |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Ao... |
ORPHA:96201 |
| Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
| Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Rieger anomaly, Ventricular septal defect, Narrow mouth, High palate, L... |
OMIM:270450 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
| Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Umbilical hernia, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance |
OMIM:614557 |
| Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Carotid artery dissection, Hiatus hernia, Pulmonary artery stenosis, Aor... |
OMIM:208050 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Increased circulating IgE level, Increased circulating IgG level, Defective T cell ... |
OMIM:618213 |
| Wolfram Syndrome |
|
Ataxia, Optic atrophy, Myopathy, Abnormal autonomic nervous system physiology, Anemia |
ORPHA:3463 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Ventriculomegaly, Dental crowding, Vascular dilatation, Varicose veins, Thin vermilion border, Sh... |
OMIM:618343 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Esophageal varix, Olig... |
ORPHA:731 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
| Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Mitral stenosis, Intestinal malrotation, Abnormality of the dentition,... |
ORPHA:955 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Meckel diverticulum, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Congenital Myopathy 17 |
|
Tented upper lip vermilion, Dental malocclusion, Renal hypoplasia, Cleft palate, High palate, Lon... |
OMIM:618975 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, High palate, Long philtrum, Atrial septal de... |
ORPHA:505237 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Esophageal diverticulum, Complete atrioventricular canal defect... |
OMIM:617925 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level |
OMIM:212750 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Open bite, Venous insufficiency, Hydrocephalus, Polycystic ovaries |
ORPHA:2969 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myopathy, Rhabdomyolysis |
ORPHA:228305 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| 2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Deep philtrum, Cleft palate, Downturned corners of mouth, Thin vermili... |
ORPHA:251014 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Esopha... |
ORPHA:3412 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... |
OMIM:620024 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Usher Syndrome |
|
Myopathy, Ataxia |
ORPHA:886 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Pericardial effusion, Hydrocephalus, High palate, Micropenis, Dandy-Walker malf... |
OMIM:617822 |
| Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta |
OMIM:215045 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities |
ORPHA:457365 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Sub... |
ORPHA:457279 |
| Opitz-Kaveggia Syndrome |
|
Anal stenosis, Dental crowding, Intestinal malrotation, Hypospadias, Cleft upper lip, Pyloric ste... |
OMIM:305450 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Pyloric stenosis, Downturned corners of mouth, Thin vermilion borde... |
ORPHA:1001 |
| Carcinoid Syndrome |
|
Myopathy |
ORPHA:100093 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Cleft palate, Hydranencephaly, Dandy-Walker malformation |
OMIM:225790 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Micropenis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2519 |
| Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Pancreatic cysts, Cleft palate, Multiple renal cysts, Abnormal inte... |
ORPHA:1318 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Communicating hydrocephalus, Downturned corners of mouth, Unilateral renal agenesis |
ORPHA:1064 |
| Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Aganglionic megacolon, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horses... |
ORPHA:959 |
| Oculodentodigital Dysplasia |
|
Neurogenic bladder, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, Cleft ... |
OMIM:164200 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Thin upper lip vermilion, Pericarditis, Villous atrophy, Proteinuria, P... |
OMIM:212065 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Elevated circulating creatine kinase concentration, Hyperlipidemia, Increased muscle lipid conten... |
ORPHA:565612 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Hydrocephalus, Abnorma... |
ORPHA:505248 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, EEG abnormality, ... |
ORPHA:371364 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Thin vermilion border, Long philtrum, Microphthalmia, Micropenis, Bifid... |
OMIM:241410 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Temple Syndrome |
|
Hydrocephalus, Bifid uvula |
ORPHA:254516 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Hydrocephalus, Agenesis of incisor, Dental... |
OMIM:610829 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left vent... |
OMIM:619869 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Anteriorly placed anus, Downturned corners of ... |
ORPHA:247262 |
| Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Microphthalmia With Limb Anomalies |
|
Macrodontia, Cleft upper lip, Venous insufficiency, Hydrocephalus, Cleft palate, Horseshoe kidney... |
ORPHA:1106 |
| Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2119 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Hydrocephalus, Abnormal renal morphology, Long philtrum |
OMIM:207410 |
| Yunis-Varon Syndrome |
|
Cardiomegaly, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Short philtrum, ... |
ORPHA:3472 |
| Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Cleft palate, High palate, Micropenis, Penoscrotal hypospadias |
OMIM:617164 |
| Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Orofacial cleft, Thin vermil... |
ORPHA:1519 |
| Moebius Syndrome |
|
Abnormality of the dentition, High palate, Microphthalmia, Micropenis, Bifid uvula |
OMIM:157900 |
| Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Aortic arch aneurysm, Patent ductus arteriosus, Long penis, Gingival o... |
OMIM:135500 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Urinary incontinence |
OMIM:236690 |
| Caroli Disease |
|
Esophageal varix, Polycystic kidney dysplasia |
ORPHA:53035 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Deep philtrum, Hydrocephalus, Colpocephaly, ... |
OMIM:619833 |
| Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:380 |
| 19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Cleft palate, Thick vermilion border, Short philtrum, Narrow mouth |
ORPHA:447980 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Epispadias, Ve... |
OMIM:258040 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, High palate, Hydronephrosis |
ORPHA:35173 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Thin upper lip vermilion, Dilation of Virchow-Robin spaces, Ventricular septal defect, Dental cro... |
OMIM:300998 |
| Atelis Syndrome 2 |
|
Diastema, Patent ductus arteriosus, Thick lower lip vermilion, Supravalvar pulmonary stenosis, Do... |
OMIM:620185 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Patent ductus arteriosus, High palate, Hydrocephalus |
OMIM:618162 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... |
OMIM:615474 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philtrum, High palate, Micr... |
ORPHA:798 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Single ventricle, Microphthalmia, Micropenis, Ethmocephaly, Median clef... |
OMIM:236100 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Erosion of oral mucosa, Multicystic kidney dysp... |
ORPHA:79404 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Cleft palate |
OMIM:613456 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Malabsorption, Hydrocephalus, Thick lower lip vermilion, Gingiva... |
ORPHA:579 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Nephrolithiasis, Intracranial hemorrhage |
ORPHA:369929 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenosis, Hydronephr... |
OMIM:617913 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Atrioventricular canal defect, Thin upper lip vermilion |
OMIM:619135 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, High palate, Hydrocephalus, Long philtrum |
OMIM:612940 |
| Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Intestinal malrotation, Di... |
OMIM:244450 |
| Xp21 Deletion Syndrome |
|
Calf muscle hypertrophy, Myopathy, Decreased muscle mass |
ORPHA:261476 |
| Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho... |
OMIM:227650 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Meester-Loeys Syndrome |
|
Gingival overgrowth, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurys... |
OMIM:300989 |
| Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard palate, Widely spaced te... |
ORPHA:2152 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anteriorly placed anus, Microphthalmia, Abnormal cardiac septum morphology, Anal atresia |
ORPHA:1352 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Thin upper lip vermilion, Ventricular septal defect, Optic disc hypopla... |
OMIM:619306 |
| 1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormal... |
ORPHA:1606 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Cleft lip, Cleft palate, Pulmonic stenosis, Atrioventricular canal defect |
OMIM:619123 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ... |
ORPHA:261537 |
| Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Esophageal atresia, Patent ductus... |
OMIM:164280 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Cleft upper lip, Abnormal cardiac septum morphology, Umbilical hernia,... |
OMIM:308050 |
| Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Hypospadias, Carious teeth, Thin vermilion border, Narro... |
ORPHA:96097 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria |
ORPHA:445038 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Abnormal palate morphology |
ORPHA:93262 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... |
OMIM:300972 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Ventricular septal defect, Ectopic kidney, Horsesho... |
OMIM:227645 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Neoplasm of the heart, Megacys... |
ORPHA:2241 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Refsum Disease |
|
Microphthalmia, Renal insufficiency, Cardiomyopathy |
ORPHA:773 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Micro... |
ORPHA:2470 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Narrow mouth, Cleft palate, Mitr... |
OMIM:601776 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia |
ORPHA:247691 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Leukemia, Monoclonal immunoglobulin ... |
ORPHA:33226 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Umbilical hernia, Hydronephrosis |
OMIM:619217 |
| Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B... |
ORPHA:1942 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus |
ORPHA:31 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Gingival fibromatosis, Renal cyst, Cardiac rha... |
OMIM:613254 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Iron deficiency anemia |
OMIM:618885 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Ventriculomegaly, Median cleft lip, Hypospadias, Bilateral cleft lip, Hydrocephalus,... |
OMIM:612651 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
High palate, Patent ductus arteriosus, Ventricular septal defect, Bifid uvula |
OMIM:300472 |
| Choreoacanthocytosis |
|
Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Peroneal muscle atrophy, Weight ... |
ORPHA:2388 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Skeletal muscle hypertrophy, Macroglossia, Hypercholesterolemia, Increased ... |
ORPHA:528 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Abnormal heart mo... |
OMIM:600901 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
| Warburg Micro Syndrome 3 |
|
Narrow palate, Downturned corners of mouth, Microphthalmia, Micropenis, Ventriculomegaly |
OMIM:614222 |
| Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Microphthalmia, Micropenis |
OMIM:610125 |
| Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Open mouth, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Vesic... |
OMIM:605039 |
| Fanconi Anemia, Complementation Group S |
|
Macrodontia, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip vermilion |
OMIM:617883 |
| Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
| Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Abnormality of the dentition, Thick... |
ORPHA:3071 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Anteriorly placed anus, Conical incisor, Widely spa... |
OMIM:261540 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ... |
ORPHA:261552 |
| Myopathy, Centronuclear, X-Linked |
|
Pyloric stenosis, Hydrocephalus, Dental malocclusion, High palate, Dandy-Walker malformation |
OMIM:310400 |
| Frontometaphyseal Dysplasia |
|
Urethral stenosis, Cleft palate, Abnormal heart morphology, Hydronephrosis, Oligodontia, Bifid uv... |
ORPHA:1826 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve... |
OMIM:118450 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Absence of Stensen duct, Selective to... |
OMIM:129900 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Exaggerated cupid's bow, Cleft lip, Deep philtrum, Cleft palate, Short philtrum, Thick vermilion ... |
OMIM:620098 |
| Mend Syndrome |
|
Asymmetry of the mouth, Hydrocephalus, Cleft palate, Abnormal heart morphology, High palate, Micr... |
ORPHA:401973 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, High palate, Abnormal dental enamel morphology |
ORPHA:2180 |
| Vitreoretinochoroidopathy |
|
Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion |
OMIM:193220 |
| Netherton Syndrome |
|
Aminoaciduria, Ectopic kidney, Hydronephrosis, Malabsorption |
ORPHA:634 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Lateral ventricular asymmetry, Ventricular septal defect, Patent ductus arteriosus, Macroglossia,... |
OMIM:613457 |
| Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Renal agenesis, Cleft lip, ... |
ORPHA:1199 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Abnormality of t... |
ORPHA:251028 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Dental crowding, High, narrow palate, Meningocele, High palate, Umbili... |
ORPHA:2789 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Hydrocephalus |
OMIM:300863 |
| Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, High, narrow palate, Wide m... |
OMIM:619312 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
| Hurler Syndrome |
|
Heparan sulfate excretion in urine, Hydrocephalus, Gingival overgrowth, Dermatan sulfate excretio... |
OMIM:607014 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Wide mouth, Thin ... |
ORPHA:2995 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
| Hemangioblastoma |
|
Neurogenic bladder, Hydrocephalus |
ORPHA:252054 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Hypospadias, Abnormality of the dentition, Malabsorptio... |
ORPHA:235 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long philtrum, Microphthalmia |
OMIM:152950 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
| Kagami-Ogata Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Long philtrum, Atrial sep... |
OMIM:608149 |
| Myhre Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Pericardial effusion, Cleft lip, Patent duct... |
OMIM:139210 |
| Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Microspherophakia, Tooth malposition, Narrow... |
OMIM:277600 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Aganglionic megacolon, Abnormality of the kidney... |
ORPHA:847 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Bilateral microphthalmos |
ORPHA:77299 |
| Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydrocephalus, Hamartomatous s... |
OMIM:109400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Hydrocephalus, Abnormally large globe |
OMIM:615249 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Congenital pyloric atresia, A... |
ORPHA:158684 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Ventricular septal defect, Spina bifida, Pancreatic cyst... |
OMIM:274000 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Multicystic kidney dysplasia, Hy... |
OMIM:107480 |
| Somatostatinoma |
|
Hypochromic microcytic anemia |
ORPHA:97283 |
| Distal Deletion 19P |
|
Ventricular septal defect, Cleft palate, Short philtrum, Tricuspid valve prolapse, Umbilical hern... |
ORPHA:96129 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Spina bifida occulta, T... |
OMIM:301030 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,... |
OMIM:619522 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Generalized muscle weakness, Elbow flexion contracture, EMG: myopathic abn... |
ORPHA:1900 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dilated fourth ventricle, Thin upper lip vermilion, Ventriculomegaly, Abnormality of the dentitio... |
ORPHA:480880 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dandy-Walker malformation, Ventricular septa... |
ORPHA:1465 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Ventriculomegaly, Hydronephrosis, Dandy-Walker malformation |
OMIM:302960 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Ventricular septal defect, Hypospadias, Large placenta, Wide mouth, Galactosuria... |
OMIM:222470 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Accessory oral frenulum, Bilateral cleft lip and palate |
OMIM:619339 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Deep philtrum, Hydrocephalus, High palate, Tongue fasciculations, Micropenis, Thick upper lip ver... |
OMIM:614969 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Hypospadias, Cleft palate, Umbilical hernia, Long philtrum, Microphthalmia |
ORPHA:2505 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
| Crouzon Syndrome |
|
Hydrocephalus, Narrow palate |
ORPHA:207 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| B4Galt1-Cdg |
|
Thin upper lip vermilion, Hydrocephalus, Dandy-Walker malformation, Long philtrum |
ORPHA:79332 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities |
OMIM:620326 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Subvalvular aortic stenosis, Coarctation of aorta, Narrow mouth, Atria... |
OMIM:614114 |
| Myopathy With Extrapyramidal Signs |
|
Increased CSF protein concentration, Tented upper lip vermilion, Ventricular septal defect |
OMIM:615673 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Tented upper lip vermilion, Noncommunicating hydrocephalus, Downturned corners of mouth, Short ph... |
OMIM:619320 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Hydrocephalus, Dilated... |
ORPHA:79282 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft pa... |
OMIM:614083 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities |
ORPHA:684 |
| Arboleda-Tham Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Ventricular septal defect, Intestin... |
OMIM:616268 |
| Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Umbilical hernia, Ventricular septal defect |
ORPHA:1488 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
| Marfan Syndrome |
|
Mitral valve calcification, Dental crowding, Open bite, High, narrow palate, Descending aortic di... |
ORPHA:558 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Thoracic aortic aneurysm, Carious teeth, Hydrocephalus, Mitral valve prolapse, As... |
ORPHA:536467 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Proximal upper limb muscle hypertrophy, Skeletal muscle hypertrophy, Myopathy, Musc... |
ORPHA:280365 |
| Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Proteinuria, Pericardial effusion, Patent ductus arterios... |
ORPHA:1272 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Myopathy, Weight loss, Anemia, Hepatosplenomegaly |
ORPHA:85450 |
| Peutz-Jeghers Syndrome |
|
Intestinal obstruction, Esophageal neoplasm, Enlarged polycystic ovaries, Rectal prolapse, Abnorm... |
ORPHA:2869 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia, Skeletal muscle... |
ORPHA:800 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Exaggerated cupid's bow, Aqueductal stenosis, Narrow mouth, Fet... |
OMIM:619512 |
| Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Hydrocephalus, Cleft palate, Tongue nodules, Lobulated... |
OMIM:252100 |
| Campomelic Dysplasia |
|
Irregular dentition, Hypospadias, Spina bifida, Carious teeth, Hydrocephalus, Submucous cleft har... |
OMIM:114290 |
| 19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Wide mouth, Thin vermilion border, Solitary median maxill... |
ORPHA:217346 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, ... |
ORPHA:534 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
| Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Heparan sulfate excretion in urine, Hydrocephalus, Gingival over... |
OMIM:253220 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Anal stenosis, Hydroureter, Absence of Stensen duc... |
OMIM:604292 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Esophageal stricture, Patent ductus arteriosus, ... |
OMIM:617053 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ... |
ORPHA:168558 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus, Dental malocclusion, Narrow palate, Mitral valve prolapse, High palate, Umbilical ... |
OMIM:182212 |
| Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Renal hypoplasia, Cleft palate, C... |
OMIM:105650 |
| Degcags Syndrome |
|
Bilateral renal hypoplasia, High palate, Atrial septal defect, Patent foramen ovale, Hypospadias,... |
OMIM:619488 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Proteinuria, Non-acidotic proximal tubulopathy... |
OMIM:222448 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Caroli Syndrome |
|
Esophageal varix, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocy... |
OMIM:300952 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Tenorio Syndrome |
|
Hydrocephalus, Wide mouth, Macroglossia, Enuresis, Recurrent aphthous stomatitis, Ventriculomegaly |
OMIM:616260 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia |
ORPHA:199299 |
| Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis |
OMIM:140000 |
| Nance-Horan Syndrome |
|
Microphthalmia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production |
ORPHA:91349 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Oligodontia, Atrial septal de... |
OMIM:612289 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Ventriculomegaly, Proteinuria, Hiatus hernia, H... |
OMIM:251300 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia |
OMIM:300322 |
| Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Ventricular septal defect |
OMIM:610832 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ... |
ORPHA:289548 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... |
ORPHA:227990 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue... |
ORPHA:434179 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology |
ORPHA:398124 |
| Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Pancytopenia, Facial hypotonia, Ataxia, Hepatosplenomegaly, Macroglossia, Myop... |
ORPHA:309282 |
| Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Wide mouth, Interrupted inferio... |
OMIM:618846 |
| 8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Exaggerated cupid's bow, Abnormality of the dentition, Downturned corners of... |
ORPHA:284160 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Esophageal atresia, Deep philtrum, Cleft palate, Atrial septal defect |
OMIM:610536 |
| Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
| Localized Scleroderma |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
| Holoprosencephaly 2 |
|
Median cleft lip and palate, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cle... |
OMIM:157170 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux, Ventriculomegaly |
OMIM:120200 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Nephr... |
OMIM:268310 |
| Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Ventricular septal defect, Optic nerve hypoplasia, Short mandibula... |
OMIM:602535 |
| Mend Syndrome |
|
Crossed fused renal ectopia, Hydrocephalus, High palate, Macular hypoplasia, Aortic valve stenosi... |
OMIM:300960 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormal pulmonary valve morphology, Abn... |
ORPHA:857 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Abnormal dental enamel morphology, Hydrocephalus, Cleft palate, Microdontia,... |
ORPHA:1812 |
| Vici Syndrome |
|
Failure to thrive, Left ventricular hypertrophy, Leukopenia, T lymphocytopenia, Myopathy, Neutrop... |
OMIM:242840 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Tented upper lip vermilion, Patent foramen ovale |
OMIM:614961 |
| Glycerol Kinase Deficiency |
|
Myopathy, Small for gestational age, Muscular dystrophy, Lethargy |
OMIM:307030 |
| Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Microspherophakia, Tooth malposition, Narrow... |
OMIM:608328 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... |
ORPHA:1071 |
| Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke, Optic nerve hypoplasia |
ORPHA:447788 |
| Lead Poisoning |
|
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Eec Syndrome |
|
Hypospadias, Abnormal dental enamel morphology, Renal hypoplasia/aplasia, Carious teeth, Xerostom... |
ORPHA:1896 |
| Filippi Syndrome |
|
Thin vermilion border, Ventricular septal defect, Short philtrum |
ORPHA:3255 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Poikilocytosis, Acanthocytosis |
OMIM:618947 |
| Adenohypophysitis |
|
Normochromic anemia |
ORPHA:95512 |
| Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... |
OMIM:617666 |
| Cystic Echinococcosis |
|
Renal cyst, Abnormal heart morphology, Ovarian cyst, Membranous nephropathy, Hepatic cysts |
ORPHA:400 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Increased CSF protein concentration |
ORPHA:209956 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
| Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Patent ductus arteriosus, Cleft palate, Renal cyst, Broad philtrum, Fused te... |
OMIM:613610 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia, Dandy-Walker malformation |
OMIM:156610 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Tented upper lip vermilion, Hydrocephalus, Short philtrum, Everted lower lip ve... |
OMIM:617281 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Anteriorly placed anus, Oligodontia, Spina bifida occulta, Cl... |
OMIM:305600 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard p... |
ORPHA:2250 |
| Albers-Schönberg Osteopetrosis |
|
Carious teeth, Hydrocephalus, Abnormality of the dentition |
ORPHA:53 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Pericarditis, Ureteral stenosis, Intestinal obstruction, Renal insufficiency, Pro... |
ORPHA:900 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Exaggerated cupid's bow, Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, ... |
OMIM:619480 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Dental malocclusion, High palate, Narrow mouth |
ORPHA:2115 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... |
ORPHA:227982 |
| Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Patent ductus arteriosu... |
OMIM:618188 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Short philtrum, Abnormal heart morphology |
OMIM:610758 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth, High palate, Short philtrum, ... |
OMIM:614230 |
| Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Hydrocephalus, Orofacial cleft, Wide mouth, Dandy-Walker malformation |
ORPHA:1647 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hydrocephalus, Chylopericardium, Hematuria, Multiple rena... |
ORPHA:538 |
| Campomelic Dysplasia |
|
Ventriculomegaly, Hydronephrosis, Cleft palate |
ORPHA:140 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Deep philtrum, Hyposthenuria, Vesicoureteral reflux, Hydronephrosis |
OMIM:615926 |
| Warburg Micro Syndrome 4 |
|
Microphthalmia, Long philtrum, Micropenis, Narrow mouth |
OMIM:615663 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Hypospadias, Hydrocephalus, Gingival overgrowth, Narrow palate, Anteriorly placed an... |
OMIM:123790 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Orofacial cleft, Arter... |
ORPHA:1556 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Arterial Tortuosity Syndrome |
|
Hiatus hernia, Myocarditis, Pyloric stenosis, Dilated cardiomyopathy, Pulmonary artery stenosis, ... |
ORPHA:3342 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hydronephrosis |
OMIM:619431 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Exaggerated cupid's bow, Large placenta, Macroglossia, Umbilical hernia, Open mouth, Hydronephrosis |
ORPHA:254528 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mo... |
OMIM:212066 |
| Occipital Horn Syndrome |
|
Ureteral obstruction, Hiatus hernia, Bladder diverticulum, High palate, Long philtrum, Hydronephr... |
OMIM:304150 |
| Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Dental crowding, Abnormality of the dentition, Long penis, Gingival ov... |
ORPHA:769 |
| Mosaic Trisomy 8 |
|
Vesicoureteral reflux, High palate, Hydronephrosis, Cleft palate |
ORPHA:96061 |
| Zttk Syndrome |
|
Ventricular septal defect, Polyuria, Unilateral renal agenesis, Abnormality of the dentition, Pat... |
OMIM:617140 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Orofacial cleft, High palate, Atrial septal defect, Patent... |
OMIM:607872 |
| Peho Syndrome |
|
Ventriculomegaly, Hydrocephalus, Gingival overgrowth, Abnormal upper lip morphology, Open mouth, ... |
ORPHA:2836 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology |
ORPHA:1782 |
| Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... |
OMIM:180700 |
| Hurler Syndrome |
|
Abnormal heart valve morphology, Hydrocephalus, Macroglossia, Cardiomyopathy, Mucopolysaccharidur... |
ORPHA:93473 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Recurrent urinary tract infections, Ventriculomeg... |
OMIM:619229 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Larsen Syndrome |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Hypodontia, Atrial septal defect, Spina... |
OMIM:150250 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio... |
OMIM:300967 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia |
OMIM:269200 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas... |
OMIM:301074 |
| Sanjad-Sakati Syndrome |
|
Myopathy |
ORPHA:2323 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microdontia, Patent ductus arteriosus, Renal hypoplasia, Thick vermilion border, Atrial septal de... |
OMIM:620005 |
| Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Arterial tortuosity, Dilatation of the sinus of Valsalva, Patent ductus arte... |
ORPHA:284984 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micropenis |
OMIM:610756 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:109 |
| Panhypophysitis |
|
Normochromic anemia |
ORPHA:95513 |
| Muenke Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:53271 |
| Joubert Syndrome 1 |
|
Enlarged fossa interpeduncularis, Protruding tongue, Renal cyst, Occipital myelomeningocele, Macr... |
OMIM:213300 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Flexion contracture, Myopathy, Gait disturbance, Anemia |
ORPHA:3042 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Ventricular septal defect, Hypospadias, Complete atrioventricu... |
OMIM:617063 |
| Gm1 Gangliosidosis |
|
Ventricular septal defect, Patent ductus arteriosus, Gingival overgrowth, Abnormal heart morpholo... |
ORPHA:354 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Holoprosencephaly, Atrial septal defect, Micropenis, Atrioventricular canal defec... |
ORPHA:672 |
| Hypoplasminogenemia |
|
Duodenal ulcer, Hydrocephalus, Nephrolithiasis, Gingival overgrowth, Gingivitis, Periodontitis, D... |
ORPHA:722 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral arteries, Aortopulmo... |
OMIM:620025 |
| Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Abnormality of the dentition, Esophageal atresia, Thick lowe... |
ORPHA:506358 |
| Curry-Jones Syndrome |
|
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lip ... |
OMIM:601707 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Thin vermilion border, High palate, Polycystic kidne... |
ORPHA:3404 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Deep philtrum, Anomalous origin of left subclav... |
ORPHA:438213 |
| Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microphthalmia, Cleft palate, Narrow mouth |
OMIM:251230 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Long philtrum |
OMIM:617895 |
| Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel diverticulum |
OMIM:616395 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Pfeiffer Syndrome Type 2 |
|
Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Anal atresia |
ORPHA:93259 |
| Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Thick lower lip ... |
OMIM:218040 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Cleft palate, Horseshoe kidney, Cystic renal dysplasia, En... |
OMIM:608022 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Ureteral stenosis, Cleft palate, Mitral valve prolapse, Tricuspid valv... |
OMIM:309350 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormality of the kidney, Cleft lip, Dysplastic tricuspid valve, Clef... |
ORPHA:1724 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Macroglossia, Atrial septal defect, Micropenis, Hydr... |
OMIM:269150 |
| 46,Xx Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadal dysgenesis, Streak ovary, Aplasia/hypoplasia of the uterus |
ORPHA:243 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus, Cleft palate, Narrow palate, Anteriorly placed anus, Tooth agenesis, Narrow mouth,... |
ORPHA:1555 |
| Tetraamelia Syndrome 1 |
|
Renal agenesis, Cleft upper lip, Hydrocephalus, Cleft palate, Urethral atresia, Microphthalmia, A... |
OMIM:273395 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Optic nerve hypoplasia |
OMIM:620157 |
| Pituitary Apoplexy |
|
Normochromic anemia |
ORPHA:95613 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Wide mouth, Thick vermilion border, Dandy-W... |
OMIM:304340 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, High palate, Pulmonic... |
OMIM:609942 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Hypoplasia of the primary teeth, Dental malocclusion,... |
OMIM:257850 |
| Ohdo Syndrome, X-Linked |
|
Hiatus hernia, Thin vermilion border, High palate, Widely spaced teeth, Narrow mouth, Microdontia... |
OMIM:300895 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Renal dysplasia, Ureteral duplication, Ventriculomegaly, Accessory oral frenulum, Pancreatic cyst... |
OMIM:266920 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Abnormal aortic valve morphology, ... |
ORPHA:35687 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
| Sotos Syndrome |
|
Ureteral duplication, No permanent dentition, Vesicoureteral reflux, Atrial septal defect, Hyposp... |
ORPHA:821 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Sube... |
ORPHA:25 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
EMG: myopathic abnormalities, Optic atrophy, Ataxia, Acute rhabdomyolysis |
ORPHA:480864 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Low plasma citrulline, Ragged-red muscle fibers, Ophthalmoparesis, Hyperalaninemia, Muscle weakness |
ORPHA:255210 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Abnormal lymphatic vessel morphology... |
ORPHA:464329 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Gorlin Syndrome |
|
Carious teeth, Hydrocephalus |
ORPHA:377 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Myopathy, Aganglionic megacolon, Failure to thrive in infancy |
OMIM:162300 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ileal atresia, Jejunal... |
OMIM:243150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Splenomegaly, Ragged-red mu... |
OMIM:252010 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Patent ductus arteriosus, Aplasia... |
OMIM:617088 |
| Curry-Jones Syndrome |
|
Microphthalmia, Intestinal malrotation, Ventriculomegaly |
ORPHA:1553 |
| Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys |
ORPHA:958 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
| Cole-Carpenter Syndrome 1 |
|
Microdontia, Hydrocephalus, Communicating hydrocephalus, Dentinogenesis imperfecta |
OMIM:112240 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Spina bifida, Hydrocephalus, Cleft palate, Narrow mouth, Atrial septal defect, Umbil... |
OMIM:304120 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Met... |
OMIM:277400 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... |
OMIM:175050 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Hydrocephalus, Downturned corners of mouth, Wide mouth, High palate, Sm... |
OMIM:618590 |
| Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Dental malocclusion, Mitral valve prolapse, Taurodontia, Macrodontia o... |
OMIM:616202 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Gingival overgrowth, Macroglos... |
ORPHA:96191 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Multicystic kidney dysplasia, Ventricular septal defect... |
OMIM:606170 |
| Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Stroke, Homocystinuria, Ventriculomegaly |
ORPHA:395 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Spina bifida, High, narrow palate, Supernumerary tooth, De... |
OMIM:234100 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| Apert Syndrome |
|
Delayed eruption of teeth, Esophageal atresia, Hydrocephalus, Cleft palate, Narrow palate, Ectopi... |
ORPHA:87 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Partial anomalous pulmonary... |
OMIM:301044 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Fetal megacystis, Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Long philtrum |
ORPHA:73246 |
| Osteogenesis Imperfecta |
|
Abnormality of dental color, Abnormal dental enamel morphology, Umbilical hernia, Delayed eruptio... |
ORPHA:666 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Ventricular septal defect, Large placenta, Deep philtrum, Pulmonary a... |
ORPHA:96334 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, High palate |
ORPHA:139471 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia, Patent ductus arteriosu... |
ORPHA:79345 |
| Acquired Generalized Lipodystrophy |
|
Myopathy, Calf muscle pseudohypertrophy |
ORPHA:79086 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst |
OMIM:617100 |
| Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... |
ORPHA:573278 |
| Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia |
ORPHA:2038 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Pyloric stenosis, Renal hypoplasia, Ectopic anus,... |
ORPHA:3138 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micropenis, Ventricular septal defect |
OMIM:620073 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ... |
OMIM:137920 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia |
ORPHA:79351 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Enamel hypoplasia... |
ORPHA:2363 |
| Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Oligodontia, Everted lower lip vermilion, Short... |
OMIM:609460 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Horseshoe kidney, Micropenis, Thin vermilion border, High palate, Total anomalous pu... |
OMIM:609945 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac... |
OMIM:600145 |
| Glutaric Acidemia I |
|
Glutaric aciduria, Hydrocephalus, Ketonuria, Lateral ventricle dilatation |
OMIM:231670 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Short philtrum, Ventriculomegaly |
OMIM:613603 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Congenital malformation of the left heart, Wide penis, Downturned corners ... |
ORPHA:3455 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... |
ORPHA:37042 |
| Oculodentodigital Dysplasia |
|
Neurogenic bladder, Median cleft lip, Ventricular septal defect, Abnormal dental enamel morpholog... |
ORPHA:2710 |
| Whipple Disease |
|
Myocarditis, Pericarditis, Hydrocephalus, Malabsorption |
ORPHA:3452 |
| Sturge-Weber Syndrome |
|
Hydrocephalus, Stroke, Gingival overgrowth, Abnormal cerebral vascular morphology |
ORPHA:3205 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Trisomy 10P |
|
Abnormality of the kidney, Orofacial cleft, Abnormal heart morphology, Abnormal lip morphology, T... |
ORPHA:171929 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... |
OMIM:602782 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... |
OMIM:155310 |
| Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Intestinal fistula, Tricuspid stenosis, Pulmonic stenosis |
ORPHA:100078 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Abnormal dental enamel morphology, Epispadi... |
ORPHA:2556 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, High, narrow palate, Hydrocephalus, Everted lower lip vermilion, High palate, Short... |
OMIM:613776 |
| Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Hypospadias, Megacystis, Vesicoureteral reflux, Abnormal cardiac septu... |
ORPHA:209905 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Myopathy, Difficulty walking |
ORPHA:536545 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Long philtrum |
OMIM:123700 |
| Pseudoaminopterin Syndrome |
|
Hydrocephalus, Orofacial cleft, Horseshoe kidney, High palate, Short philtrum, Microdontia, Paten... |
ORPHA:221120 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Hydronephrosis, High... |
OMIM:620330 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis, Esophagitis |
ORPHA:541423 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Hydrocephalus |
ORPHA:220295 |
| Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Abnormality of the kidney, CSF pleocytosis, Hydrocephalus, Vas... |
ORPHA:228123 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Bicuspid aortic valve, Hyp... |
OMIM:619475 |
| Peutz-Jeghers Syndrome |
|
Iron deficiency anemia |
OMIM:175200 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Fat malabsorption, Renal cyst, Steatorrhea |
ORPHA:79303 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro... |
OMIM:618727 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| Rodrigues Blindness |
|
Microphthalmia, Tooth malposition |
OMIM:268320 |
| Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Carious teeth, Hydrocephalus, Dermatan sulfate excretion in urine, Car... |
OMIM:253200 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Horse... |
ORPHA:444077 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Delayed eruption of permanent teeth, Periodontitis, Premature loss of ... |
OMIM:619269 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Persistence of primary teeth, Abnormality of the dentition, Thick lower lip vermilion, Proximal r... |
ORPHA:2785 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hyperlipidemia, Hypoplasia of the uterus, Abnorma... |
ORPHA:3464 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Recurrent urinary tract infections, Cleft upper lip, Deep philtrum, Cleft palate, ... |
OMIM:251260 |
| Momo Syndrome |
|
Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi... |
ORPHA:2563 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Papillary cystadenoma of the epididymis, Bicornuate uterus, Hyp... |
ORPHA:93111 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Cleft palate |
OMIM:257910 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Abnormality of the dentition, Malabsorption, Heparan sulfate excretion in urine, Hy... |
ORPHA:581 |
| Pfeiffer Syndrome |
|
High palate, Hydrocephalus, Dental crowding |
OMIM:101600 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Mucopolysacchariduria, Smooth philtrum |
ORPHA:585 |
| White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hydroureter, Horseshoe kidney, Anteriorly p... |
OMIM:619426 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Ventricular septal defect, Left atrial enl... |
OMIM:619991 |
| Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... |
OMIM:302350 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Vesicoureteral reflux, Atrial septal de... |
OMIM:194050 |
| Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Ventricular septal defect, Hypospadias, Cleft upper lip, Hydrocephalus, Malrotati... |
OMIM:194190 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Occipital meningo... |
ORPHA:268810 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia |
ORPHA:309031 |
| Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Tented upper lip vermilion, Ventricular septal defect, High, narrow palate, M... |
ORPHA:488632 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Down... |
ORPHA:3015 |
| Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Dental crowding, Patent ductus arteriosus, Downturned corners of mouth... |
OMIM:618268 |
| Gaucher Disease |
|
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Pro... |
ORPHA:355 |
| Osteogenesis Imperfecta, Type Vii |
|
Hypoplastic pulmonary veins, Absent pulmonary artery, Dentinogenesis imperfecta, Long philtrum, H... |
OMIM:610682 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Cleft upper lip, Ectopic kidney, Cleft palate, Oral synechia, Microphthalmia, Micr... |
OMIM:263650 |
| Noonan Syndrome 1 |
|
Ventricular septal defect, Hypospadias, High, narrow palate, Patent ductus arteriosus, Dental mal... |
OMIM:163950 |
| Crouzon Syndrome |
|
High palate, Hydrocephalus, Dental crowding |
OMIM:123500 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Hydrocephalus, Persistence of primary teeth |
OMIM:259710 |
| Sheehan Syndrome |
|
Normochromic anemia |
ORPHA:91355 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... |
ORPHA:580 |
| Malignant Hyperthermia Of Anesthesia |
|
Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab... |
ORPHA:423 |
| Johanson-Blizzard Syndrome |
|
Colonic diverticula, Ventricular septal defect, Hypospadias, Urethrovaginal fistula, Malabsorptio... |
OMIM:243800 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria, Increased overbite |
ORPHA:101000 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
| Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia |
ORPHA:100075 |
| Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal ... |
ORPHA:199 |
| Tetrasomy 5P |
|
Hydrocephalus, High palate, Long philtrum |
ORPHA:3309 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Optic nerve hypoplasia, Cleft soft palate, Hydrocephalus, Renal hypoplasi... |
OMIM:619321 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Cleft palate, High palate, Short philtrum, Ureteropelvic junction obstruction... |
OMIM:616973 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Tented upper lip vermilion, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
| 47,Xyy Syndrome |
|
Micropenis, Hypospadias, Hydrocephalus |
ORPHA:8 |
| Waardenburg Syndrome |
|
Abnormal vagina morphology, Aganglionic megacolon, Abnormality of the uterus |
ORPHA:3440 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypospadias, Carious teeth, Velopharyngeal insufficiency, Submucous cl... |
OMIM:223370 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Abnormality of the dentition, Phimosis, Patent ductus arteriosus, Cleft... |
ORPHA:363611 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ... |
ORPHA:26793 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Inability to walk, Flexion con... |
ORPHA:365 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Micr... |
OMIM:603457 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia, Gonada... |
OMIM:618419 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology, High, narrow palate, E... |
ORPHA:2658 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal heart morphology, Wide mouth,... |
OMIM:154500 |
| Icf Syndrome |
|
Communicating hydrocephalus, Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia |
ORPHA:2268 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Thin upper lip vermilion, Septo-optic dysplasia, Recurrent urinary t... |
OMIM:619841 |
| Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Abnormal dental morphology, Urinary incontinence, Delaye... |
ORPHA:191 |
| Mgat2-Cdg |
|
Ventricular septal defect, Dental crowding, Patent ductus arteriosus, Abnormal heart morphology, ... |
ORPHA:79329 |
| Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormal bladder morphology, Hepat... |
ORPHA:284 |
| Codas Syndrome |
|
Delayed eruption of teeth, Ventriculomegaly, Ventricular septal defect, Rectovaginal fistula, Atr... |
OMIM:600373 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Proteinuria, Hypoplastic philtrum, Hiatus hern... |
OMIM:616682 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Skeletal muscle hypertrophy, Hyper... |
OMIM:151660 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Hypospadias, Carious teeth, Cleft palate, Ureterocele, Narrow mouth, Mi... |
OMIM:616734 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia |
ORPHA:95409 |
| Aicardi Syndrome |
|
Spina bifida, Hiatus hernia, Cleft upper lip, Choroid plexus cyst, Cleft palate, Lateral ventricl... |
OMIM:304050 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Carious teeth, Dental malocclusion, Renal cyst |
OMIM:615560 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, High, narrow palate, Patent... |
ORPHA:466791 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Wide mouth, Long... |
OMIM:613458 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal dental morphology,... |
ORPHA:217085 |
| Loeys-Dietz Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Orofacial cleft, High palate, Aortic dissection, A... |
ORPHA:60030 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Unilateral renal agenesis, Hydrocephalus, Dental malocclusion, Hypodontia |
OMIM:101800 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Proteinuria, Hydrocephalus, Grade II vesicoureteral r... |
OMIM:619377 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Micropenis, Dilated third ventricle, Hydrocephalus, Ventriculomegaly |
ORPHA:500055 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Deep philtrum |
ORPHA:1237 |
| Trichothiodystrophy |
|
Ventricular septal defect, Carious teeth, High, narrow palate, Bilateral microphthalmos, Cardiomy... |
ORPHA:33364 |
| Baller-Gerold Syndrome |
|
Optic nerve hypoplasia, Abnormality of the kidney, Hydrocephalus, Cleft palate, Abnormal heart mo... |
OMIM:218600 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Dandy-Walker malformation, Ventriculomegaly, Urethrovaginal fistula, Cleft u... |
ORPHA:93271 |
| Restrictive Dermopathy |
|
Natal tooth, Ureteral duplication, Hypospadias, Dextrocardia, Large placenta, Patent ductus arter... |
ORPHA:1662 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Carious teeth, Downturned corners of mouth... |
OMIM:620186 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Prominent superficial veins, Narrow philtrum, Thin vermilion border, M... |
OMIM:601812 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Abnormal pulmonary valve morphology, Premature loss of primary teeth, ... |
ORPHA:667 |
| Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Abnormal heart morphology, Increase... |
ORPHA:699 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal dental morphology,... |
ORPHA:217093 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Ventriculomegaly, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral micro... |
ORPHA:468631 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c... |
ORPHA:892 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia |
ORPHA:140952 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Decreased circulating antibody level, Leukopenia, Normochromic anemia, Increas... |
ORPHA:289390 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Aortic valve calcification, Hydrocephalus, Esophageal varix, Calcific... |
ORPHA:2072 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... |
ORPHA:464 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida |
OMIM:162200 |
| D-Bifunctional Protein Deficiency |
|
Ventriculomegaly, High palate, Renal cyst, Long philtrum |
OMIM:261515 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Long philtrum |
OMIM:615145 |
| Medulloblastoma |
|
Cerebellar hemorrhage, Adenomatous colonic polyposis, Hydrocephalus |
ORPHA:616 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Neoplasm of the... |
ORPHA:3047 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect, Cleft palate |
OMIM:178110 |
| Glucagonoma |
|
Normochromic anemia, Acanthocytosis |
ORPHA:97280 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia |
ORPHA:3016 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Multiple renal cysts, Cleft palate |
ORPHA:1190 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Dilatation of the ventricular c... |
ORPHA:459070 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, High, narrow palate, Mitral valve prolapse, Abnormal aortic valve mo... |
ORPHA:2462 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Communicating hydrocephalus |
OMIM:244400 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
| Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia |
ORPHA:110 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bilateral renal... |
OMIM:617667 |
| Acrofrontofacionasal Dysostosis 1 |
|
Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia |
OMIM:201180 |
| Semilobar Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, Hig... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, Hig... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, Hig... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, Hig... |
ORPHA:93924 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
| Currarino Syndrome |
|
Bicornuate uterus, Rectovaginal fistula, Septate vagina |
OMIM:176450 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Hydrocephalus |
OMIM:259700 |
| Addison Disease |
|
Normocytic anemia, Thiamine-responsive megaloblastic anemia |
ORPHA:85138 |
| Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Ventricular septal defect, Abnormal pulmonary valve morpholog... |
ORPHA:268261 |
| Functioning Gonadotropic Adenoma |
|
Enlarged polycystic ovaries, Ovarian cyst, Hydrocephalus |
ORPHA:91348 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Increased CSF lactate |
OMIM:614947 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Ventricular septal defect, High palate, Pulmonic stenosis, Atrial s... |
OMIM:607721 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... |
OMIM:609049 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Rhabdomyolysis, Ragged-red muscle fibers, Muscle weakness, Hypertyrosinemia |
OMIM:124000 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias, Long philtrum |
OMIM:615877 |
| Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Splenomegaly, Weight loss, Myopathy |
OMIM:219800 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Beckwith-Wiedemann Syndrome |
|
Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Macroglossia, Cardiomyopat... |
OMIM:130650 |
| Aicardi Syndrome |
|
Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Cleft palate, Short philtrum... |
ORPHA:50 |
| Monosomy 9P |
|
Hypospadias, Abnormality of the dentition, Cleft palate, High palate, Narrow mouth, Microphthalmi... |
ORPHA:261112 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Abnormality of the dentition |
ORPHA:1806 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus, High palate, Optic nerve hypoplasia |
ORPHA:300570 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Fused labia majora, Bifid scrotum, Small scrotum, Hypospadias, Cryptorchidism, Vesi... |
OMIM:201750 |
| Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Microdontia, Peripher... |
ORPHA:286 |
| Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Cleft palate, Ureterocele, Umbilical hernia, Micropenis, Renal dysplasia |
ORPHA:1934 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Coffin-Siris Syndrome 12 |
|
Hypospadias, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Noncommun... |
OMIM:619325 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus, Urinary incontinence |
OMIM:616482 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Submucous cleft h... |
ORPHA:2636 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
High palate, Open mouth, Ventricular septal defect |
OMIM:614653 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Carious teeth, Dental malocc... |
OMIM:133540 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Long philtrum, Thin vermilion border, Hydrocephalus, Narrow mouth |
OMIM:616007 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre... |
ORPHA:90794 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
| Rabin-Pappas Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia |
OMIM:620155 |
| Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Nephroblastoma, Cardiomegaly, Large placenta, Nephrolithiasis, Cleft palate... |
ORPHA:116 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Warburg Micro Syndrome 2 |
|
Microphthalmia, Micropenis |
OMIM:614225 |
| Vipoma |
|
Normochromic anemia |
ORPHA:97282 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, High, narrow palate, Hydroce... |
ORPHA:95699 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Medial calcification of large arteries, Transient isc... |
ORPHA:51608 |
| Omodysplasia 1 |
|
Ventricular septal defect, Pulmonary artery stenosis, Long philtrum, Atrial septal defect, Umbili... |
OMIM:258315 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Triangular mouth, Intestinal obstruction, Malabsorption |
OMIM:601675 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy |
OMIM:619714 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Tented philtrum, Renal cyst, Buphthalmos, Anteriorly placed ... |
ORPHA:495875 |
| Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia |
ORPHA:93315 |
| Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Carious teeth, Dental malocc... |
OMIM:216400 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Short uvula, Lens coloboma, Submucous cleft hard palate, Downturned corn... |
OMIM:619539 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
| Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif... |
OMIM:612109 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Iron deficiency anemia |
ORPHA:261584 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Dental crowding, Aganglionic megacolon, Cleft upper lip, Hyp... |
OMIM:309800 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Renal cyst, Anteriorly placed anus, Atrial septal defect, Bifid uvula... |
OMIM:601803 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Ventricular septal defect |
OMIM:259770 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... |
ORPHA:2108 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Hypodontia, Microphthalmia, Lip pit, Abnormal palate morphology |
ORPHA:1236 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Monosomy 22Q13.3 |
|
Renal dysplasia, Dental crowding, Dental malocclusion, Vesicoureteral reflux, Umbilical hernia, R... |
ORPHA:48652 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Cleft palate, High, narrow palate |
ORPHA:2714 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal cyst, Hypercalciuria, ... |
ORPHA:99880 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia |
OMIM:130050 |
| Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, High, narrow palate, Carious teeth, Patent ductus arteriosu... |
OMIM:614976 |
| Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
OMIM:248450 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis, Anal atresia |
OMIM:271520 |
| Microsporidiosis |
|
Abnormality of the spleen, Abnormal endometrium morphology, Abnormal fallopian tube morphology, D... |
ORPHA:2552 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Thick vermilion border, Long philtrum, Atrial septal defect, Microphthalmia |
ORPHA:2526 |
| Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal cyst, Hypercalciuria, ... |
ORPHA:143 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Thick lower lip vermilion, Phthisis bulbi, Long philtrum, Thick upper ... |
OMIM:619727 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... |
ORPHA:91500 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of teeth, Anteriorly placed anus, Agen... |
OMIM:268400 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
| Witteveen-Kolk Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Branchial fistula, Hypospadias, Phimosis, High, narro... |
OMIM:613406 |
| Mesomelia-Synostoses Syndrome |
|
Short umbilical cord, Hydronephrosis, Absent uvula |
OMIM:600383 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Ventriculomegaly |
OMIM:610651 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
| Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Prominent scalp veins, Hypospadias, Secundum atrial septa... |
OMIM:264090 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Communicating hydrocephalus, Abnormal dental enamel morphology |
ORPHA:2050 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
| C Syndrome |
|
Multicystic kidney dysplasia, Accessory oral frenulum, Renal hypoplasia/aplasia, Gingival overgro... |
ORPHA:1308 |
| Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus |
ORPHA:65285 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
| Keutel Syndrome |
|
Ventricular septal defect, Deep philtrum, Pulmonary artery hypoplasia, Pulmonic stenosis, Periphe... |
OMIM:245150 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Dental malocclusion, High palate, Microphthalmia, Homocystinuria, Bifid uvula |
OMIM:601552 |
| Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, High palate |
ORPHA:58 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
| Laurin-Sandrow Syndrome |
|
Downturned corners of mouth, Hydrocephalus |
ORPHA:2378 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Ventricular septal defect, Ventriculomegaly |
OMIM:619418 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615503 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Micro... |
OMIM:308300 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Failure of eruption of permanent teeth, Enamel hypoplasia, Renal cyst, Cleft palate |
OMIM:272460 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad... |
ORPHA:2232 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Cleft palate, High palate, Long philtrum, Atria... |
OMIM:271640 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Rena... |
OMIM:308205 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:2612 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia... |
OMIM:253280 |
| Fetal Akinesia Deformation Sequence 1 |
|
High, narrow palate, Narrow mouth, Hydrocephalus, Cleft palate, High palate, Short umbilical cord... |
OMIM:208150 |
| Dermatomyositis |
|
Inflammatory myopathy, Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... |
OMIM:175780 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Delayed eruption of teeth, Ventricular septal defect, Mitral stenosis, T... |
OMIM:143095 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Renal agenesis, Cleft upper lip, Malrotation of colon, Abnormality of ... |
OMIM:113620 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Renal hypoplasia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uv... |
OMIM:607932 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Meningioma |
|
Hydrocephalus, Urinary incontinence, Neoplasm of the tongue, Cerebral hemorrhage |
ORPHA:2495 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Intest... |
ORPHA:436252 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
| Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
| Proteus Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Enlarged polycystic ovaries, Long penis, Renal ... |
ORPHA:744 |
| Neurofibromatosis Type 1 |
|
Hydrocephalus, Arterial stenosis, Abnormality of the upper urinary tract |
ORPHA:636 |
| Ulnar-Mammary Syndrome |
|
Small scrotum, Bicornuate uterus, Shawl scrotum, Micropenis, Imperforate hymen |
OMIM:181450 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Aganglionic megacolon, Abnormal dental enamel morphology, Abnormality of the upper u... |
ORPHA:2273 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Iron deficiency anemia, Anemia |
ORPHA:79408 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Gitelman Syndrome |
|
Iron deficiency anemia |
ORPHA:358 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Micropenis, High palate, Ventriculomegaly |
ORPHA:457359 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, High palate, Ventriculomegaly |
OMIM:617011 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
| Norrie Disease |
|
Cryptorchidism, Optic atrophy, Uterine rupture |
ORPHA:649 |
| Monosomy 13Q14 |
|
Microphthalmia, Holoprosencephaly |
ORPHA:1587 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Singleton-Merten Syndrome 1 |
|
Muscle fiber atrophy, Tendon rupture, Muscle weakness |
OMIM:182250 |
| Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Abnormality of the uterus, Enlarged polycystic ... |
ORPHA:201 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Craniopharyngioma |
|
Hydrocephalus |
ORPHA:54595 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Yunis-Varon Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Premature loss of primary teeth... |
OMIM:216340 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Pmm2-Cdg |
|
Thin upper lip vermilion, Pericarditis, Proteinuria, Pericardial effusion, Wide mouth, Nephrotic ... |
ORPHA:79318 |
| Classical Ehlers-Danlos Syndrome |
|
Uterine prolapse, Orthostatic hypotension, Cervical insufficiency |
ORPHA:287 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Bilateral microphthalmos, Persistence of primary teeth |
ORPHA:93325 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Coffin-Lowry Syndrome |
|
Uterine prolapse |
OMIM:303600 |
