Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Orofacial cleft, Microphthalmia |
ORPHA:3434 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha... |
OMIM:611134 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida |
ORPHA:2476 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement |
OMIM:115210 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Micrognathia, Hypoplastic left a... |
OMIM:615524 |
Distal Deletion 13Q |
|
Encephalocele, Microcephaly, Anencephaly, Primary adrenal insufficiency, Aplasia/Hypoplasia of th... |
ORPHA:1590 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Microcephaly |
OMIM:601355 |
Diprosopus |
|
Abnormal cardiac septum morphology, Anencephaly |
ORPHA:1681 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, Hydranencephaly, Da... |
OMIM:617967 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Nemaline Myopathy 9 |
|
High palate, Ventricular septal defect, Cleft palate, Micrognathia |
OMIM:615731 |
Microhydranencephaly, X-Linked |
|
Multiple joint contractures, Holoprosencephaly, Microcephaly |
OMIM:306990 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Left atrial enlargement |
OMIM:612201 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... |
OMIM:613153 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Microcephaly, Situs inversus totalis, Hydrocephalus, Me... |
ORPHA:1908 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... |
OMIM:615297 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... |
OMIM:609637 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613876 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Cerebral cortical atrophy, Holoprosencephaly, Microcephaly |
ORPHA:2523 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Microcephaly |
ORPHA:293 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se... |
OMIM:615248 |
Isolated Anencephaly/Exencephaly |
|
Primary adrenal insufficiency, Anencephaly |
ORPHA:1048 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Sple... |
OMIM:612526 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septal defect, Hi... |
OMIM:618804 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... |
OMIM:301033 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Muscular ventricular septal defect |
OMIM:620062 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613874 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Transposition of the grea... |
OMIM:231060 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Hydranencephaly, Camptodactyly of finger, Microcephaly, Aplasia/Hypo... |
ORPHA:2570 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Achilles tendon ... |
ORPHA:353 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr... |
OMIM:608227 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Microp... |
ORPHA:77298 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia |
ORPHA:1918 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert... |
ORPHA:206546 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... |
ORPHA:94066 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Tooth agenesis, Mesomelia, Abnormal mitral valve morphology, Abnormal palate morpho... |
ORPHA:1277 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Narrow mouth, Atrial septal defect, Microphthalmia, Anal atresia |
ORPHA:3469 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
OMIM:601820 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Ventricular septal defect, Absent septum pellucidum, Anterior encephalocele |
OMIM:601357 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Analbuminemia |
|
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect, Micrognathia |
OMIM:620071 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Muscular ventricular septal defect, Thin lower lip v... |
ORPHA:363444 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis, Atrial septal defect, Malar ... |
ORPHA:1388 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613694 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... |
ORPHA:1335 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Short distal phalanx of finger |
OMIM:311895 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Pericardial effusion, Microph... |
OMIM:613885 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Schisis Association |
|
Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Microcephaly, Anencephaly |
ORPHA:63862 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Exaggerated cupid's bow, Micrognathia, Deep philtrum, High palate, Eve... |
ORPHA:261120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Cryptorchidism, Flexion contracture, Sk... |
OMIM:613156 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Bile duct proliferation, Anencephaly |
OMIM:611561 |
Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Microcephaly, Hypoplasia of the brainstem, ... |
OMIM:605013 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Hypoplasia of the pyramidal tract, Flexion contracture, Hypoplasia of th... |
OMIM:253800 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Short middle phal... |
OMIM:614326 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Microcephaly, Limb-girdle muscle weakness, Increased ... |
ORPHA:86812 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate, Hepatomegaly |
ORPHA:2432 |
Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Feingold Syndrome Type 2 |
|
Short middle phalanx of finger, Jejunal atresia, Short thumb, Ventricular septal defect |
ORPHA:391646 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia, Dandy-Walker ma... |
OMIM:603194 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Upper limb phocomelia, Cleft palate, Abnormal heart morphology |
ORPHA:294975 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Holoprosencephaly |
OMIM:300706 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Hydrolethalus |
|
Anophthalmia, Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Anencephaly, Microphthalmi... |
ORPHA:2189 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cryptorchidism, Orbital encephalocele, Hypoplasia of the corpus callosum, Microphth... |
OMIM:164180 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Microcephaly, Complet... |
OMIM:264480 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Cleft palate, Micrognathia |
OMIM:616570 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Hypopla... |
OMIM:619142 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Decrease... |
ORPHA:335 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Holoprosencephaly 11 |
|
Agenesis of corpus callosum, Holoprosencephaly, Polysplenia, Microcephaly |
OMIM:614226 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu... |
OMIM:614249 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of the corpus c... |
OMIM:614261 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... |
ORPHA:276575 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Micrognathia, Pericardial effusion, Carious teeth, Multiple muscular ventricular septal defects, ... |
OMIM:620070 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... |
ORPHA:276580 |
Lambotte Syndrome |
|
Semilobar holoprosencephaly, Ventricular septal defect, Microcephaly |
OMIM:245552 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the musculature, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebell... |
OMIM:225790 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity |
OMIM:618406 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613251 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Retrognathia, High palate, Narrow mouth |
ORPHA:2528 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Mesomelic Limb Shortening And Bowing |
|
Micrognathia, Mesomelic arm shortening, Cleft palate, Mesomelic leg shortening, Retrognathia |
OMIM:249710 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect, Hepatomegaly |
OMIM:614876 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... |
OMIM:619040 |
Triploidy |
|
Hepatomegaly, Cryptorchidism, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:3376 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Tongue fasciculations |
OMIM:253300 |
Ring Chromosome 21 Syndrome |
|
Microcephaly, Diabetes insipidus, Holoprosencephaly, Abnormal heart morphology |
ORPHA:1445 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Holzgreve Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Everted lower lip vermilion, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Umbilical hernia, Paten... |
OMIM:616028 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:600251 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, Mitral ... |
ORPHA:324604 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Polymicrogyria |
OMIM:616974 |
Atrial Fibrillation, Familial, 10 |
|
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement |
OMIM:614022 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... |
OMIM:601349 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy... |
OMIM:608751 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Ventricular septal defect, Microcephaly, Nephrogenic diabetes insipidus, Lissenceph... |
OMIM:613404 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Osteopenia, Increased insulin like growth factor binding protein acid l... |
OMIM:619489 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect, High palate, Short philtrum |
OMIM:618354 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Hyperinsulinemic hypog... |
OMIM:616033 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Ventricular hypertrophy, Hepatomegaly |
OMIM:619048 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy, Primary microcephaly |
OMIM:620145 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Micrognathia, Short thumb, R... |
OMIM:612561 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Secondary microcephaly, Decreased level of coenzyme Q10 in skeletal... |
OMIM:614654 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly |
ORPHA:2117 |
Cardiomyopathy, Dilated, 1V |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613697 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microcephaly, Cryptorchidism, Anencephaly, Small thenar eminence, Pulmonic stenosi... |
OMIM:619148 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Abnormal basal ganglia MRI signal inte... |
ORPHA:444013 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Autosomal Recessive Amelia |
|
Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septum morphology, Amelia ... |
ORPHA:1027 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Parc Syndrome |
|
Microretrognathia, Cleft palate |
OMIM:600331 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... |
ORPHA:1354 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Myopathy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum |
ORPHA:588 |
Craniorachischisis |
|
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63260 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy, Global brain atrophy, Microcephaly |
OMIM:614458 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Microphthalmia, Smooth... |
OMIM:614526 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Cleft palate, Gl... |
OMIM:618021 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Abnormal heart morphology |
OMIM:600252 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Diabetes mellitus, Ragged-red muscle fibers |
OMIM:540000 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Downturned corners of mouth, Atrial septal defect, Micro... |
OMIM:618652 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Lipodystrophy, Adipose ti... |
ORPHA:528 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly |
OMIM:619033 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
Cat-Eye Syndrome (Type I) |
|
Micrognathia, Anal atresia, Abnormal heart morphology |
DECIPHER:42 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Microcephaly, Nephrogenic diabetes insipidus, Lissencephaly, Atrial se... |
OMIM:208085 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Camptodactyly, Dandy-Walker malforma... |
OMIM:614175 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Pulmonary Hypertension, Primary, 5 |
|
Right ventricular hypertrophy |
OMIM:265400 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Hydrocephalus, Encephalocele, Holoprosencephaly |
ORPHA:93274 |
Meckel Syndrome |
|
Encephalocele, Accessory spleen, Anophthalmia, Pancreatic fibrosis, Microcephaly, Situs inversus ... |
ORPHA:564 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... |
OMIM:619227 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hepato... |
ORPHA:79237 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased circulating fr... |
ORPHA:276556 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Rhizomelia, Micrognathia, Downturned corners of mouth, Short philtrum,... |
ORPHA:93267 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy |
OMIM:613838 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Microcephaly, Holoprosenceph... |
OMIM:147250 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis |
OMIM:613873 |
Sotos Syndrome |
|
Mandibular prognathia, Ventricular septal defect, High, narrow palate, Muscular ventricular septa... |
OMIM:117550 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Megalencephaly, Hydrocephalus, Abnormal cardiac septum morphology, Pol... |
ORPHA:83473 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Glossoptosis |
ORPHA:3104 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening |
ORPHA:93946 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteopo... |
ORPHA:77296 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Ventricular septal defect, Spina bifida, Microcephaly, Myelomeningocele, ... |
ORPHA:1393 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Pancreatic cysts, Hepatosplenomegaly, Bile duct proliferation, Atrial sep... |
OMIM:267010 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Secondary microcephaly, Type 1 muscle fiber predominance, Primary microcephaly, Increased variabi... |
OMIM:612949 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida... |
ORPHA:3380 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Asymme... |
OMIM:608758 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Transposition of the great arteries,... |
OMIM:313850 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... |
OMIM:300280 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Supernumerary nipple, C... |
OMIM:612530 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia |
OMIM:619981 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:615355 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of... |
ORPHA:251076 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum |
ORPHA:398156 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Agenesis of corpus callosum, Holoprosencephaly, Situs inversus tot... |
OMIM:202650 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Micrognathia, Cleft palate, Tooth agenesis, Abnormal lower lip morphol... |
ORPHA:1166 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... |
ORPHA:2791 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Cleft palate, Malar flattening, Truncus arteriosus, Smooth philtrum |
OMIM:611867 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Hypo... |
OMIM:618619 |
Bronchopulmonary Dysplasia |
|
Right ventricular hypertrophy |
ORPHA:70589 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Hypopl... |
OMIM:616546 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Thomas Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
ORPHA:3316 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, T... |
OMIM:617616 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosi... |
OMIM:619895 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Micr... |
ORPHA:899 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact... |
ORPHA:99725 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Arthrogryposis multiplex congenita, Hypoplasia of the brainstem, Cerebellar hypo... |
OMIM:236500 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypoplasia of the corpus callosum, Hypomimic face |
ORPHA:93952 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification |
ORPHA:75234 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi... |
OMIM:608612 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Cerebral atrophy |
OMIM:613759 |
Iniencephaly |
|
Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, An... |
ORPHA:63259 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... |
ORPHA:2298 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture |
OMIM:616733 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... |
ORPHA:363400 |
Acitretin/Etretinate Embryopathy |
|
Microcephaly, Conotruncal defect, Hypoplasia of the thymus, Atrioventricular canal defect, Aplasi... |
ORPHA:40366 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Adrenal hypoplasia, Microcephaly, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasi... |
ORPHA:2166 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Megalencephaly, Hydrocephalus, Leukemia, Microphthalmia, Cavum septum ... |
OMIM:602501 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Os... |
OMIM:248370 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Cryptorchidism, Myopathy, Hypoplasia of the corpus callosum, Increased... |
OMIM:616816 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
Trisomy 1Q |
|
Anophthalmia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia... |
ORPHA:261344 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Deep philtrum, Ventricular septal defect, Widely spaced teeth |
OMIM:619717 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Anencephaly, Holoprosenceph... |
OMIM:269860 |
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 |
Cln3 Disease |
|
Left ventricular hypertrophy, Vacuolated lymphocytes, Generalized cerebral atrophy/hypoplasia, In... |
ORPHA:228346 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Microdontia, Micrognathia, Non-midline cleft lip, Cleft palate, Atrial ... |
ORPHA:1915 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... |
OMIM:614669 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Absent septum pellucidum, Abnormal cortical gyration... |
OMIM:236680 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Micrognathia, High, narrow palate, Cleft palate, Truncus arteriosus, S... |
ORPHA:2516 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab... |
OMIM:615418 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Th... |
OMIM:608572 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Distal amyotroph... |
ORPHA:3208 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Narrow mouth, Short foot, Everted lower lip vermilion, Long philtrum, ... |
ORPHA:228399 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity |
OMIM:620195 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Atrial septal defect, Malar flatt... |
OMIM:241310 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Ventricular septal defect, Hepatomegaly |
OMIM:613730 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventricular canal d... |
OMIM:619343 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... |
ORPHA:848 |
Monosomy 18P |
|
Microphthalmia, Hypothyroidism, Holoprosencephaly, Microcephaly |
ORPHA:1598 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holopr... |
ORPHA:990 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Transposition of the great arteries, ... |
OMIM:217095 |
Tangier Disease |
|
Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy |
OMIM:205400 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... |
ORPHA:2521 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Vacterl/Vater Association |
|
Occipital encephalocele, Congenital diaphragmatic hernia, Cryptorchidism, Anencephaly, Abnormal c... |
ORPHA:887 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Malar flattening, Cleft palate, Micrognathia |
OMIM:183700 |
Distal Monosomy 7Q36 |
|
Cryptorchidism, Holoprosencephaly, Microcephaly |
ORPHA:1636 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Congeni... |
ORPHA:435638 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd toe, Short thumb, Muscular ventricular septal defect, Short 4th toe, Short 3rd metacarp... |
OMIM:618569 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula... |
OMIM:615474 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Micrognathia, Cleft lip, Cleft palate, Submucous cleft of soft and hard... |
OMIM:301022 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Short thumb, Sub... |
ORPHA:2712 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Deep p... |
ORPHA:404440 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Bilater... |
OMIM:601186 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... |
ORPHA:263455 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Spina bifida, Hydrocephalus, Bilateral microphthalmos, Hydranencephaly |
ORPHA:2839 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Cerebral atrophy |
ORPHA:306550 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa... |
OMIM:616730 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina... |
ORPHA:2369 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the iris, Atrial s... |
ORPHA:3378 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Short hallux, Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum |
OMIM:620393 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Agenesis of corpus callosum, Decreased testicular size, Alobar holoprosencephaly |
OMIM:615433 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Microcephaly, Cryptorchidism, Holoprosencepha... |
ORPHA:261236 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Hypoplasia of the thymu... |
OMIM:300400 |
Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Short toe, Thin vermilion border, Widely spaced teeth,... |
ORPHA:487825 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Bone-marrow... |
OMIM:278000 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Secondary microcephaly, Lef... |
OMIM:619167 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Long philtrum, Atrial septal defect, Microphthalmia, Tetralogy of Fallot |
OMIM:300887 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd finger, Esopha... |
ORPHA:391641 |
Lambert Syndrome |
|
Wide mouth, Malar flattening, Ventricular septal defect |
ORPHA:1296 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Abnormal oral frenulum morphology, Short philtrum, Cleft palate |
ORPHA:1617 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Hypothyroidis... |
OMIM:617713 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... |
OMIM:607330 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Abnormally large globe, Megalencephaly, Hydro... |
OMIM:603387 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Periventricular leukomalacia, Ventricular septal defect, Microcephaly |
ORPHA:357225 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Pierpont Syndrome |
|
Smooth philtrum, Short toe, Prominent median palatal raphe, Short foot, Thin vermilion border, Wi... |
OMIM:602342 |
Polyvalvular Heart Disease Syndrome |
|
Abnormal heart valve morphology, Dental crowding, Micrognathia, Mitral valve prolapse, High palat... |
ORPHA:228410 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Failure to thrive in infancy, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia |
OMIM:611209 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria... |
OMIM:612946 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary... |
OMIM:136760 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... |
ORPHA:268 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Atrial... |
ORPHA:1913 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Micrognathia, Missing ribs, Double outlet right ventricle, Cleft palat... |
OMIM:220210 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Leukocytosis, Ischemic stroke, Left ventricular hypertrophy, Hypopituitarism, Hypo... |
ORPHA:90065 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microdontia, M... |
ORPHA:3191 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Bile duct proliferation |
OMIM:612284 |
1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation... |
ORPHA:250999 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Short thumb, Abnorma... |
ORPHA:401935 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Holoprosencephaly |
|
Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, Holoprosencephaly, Apla... |
ORPHA:2162 |
Jacobsen Syndrome |
|
Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephalus, Flexion contracture, Macu... |
OMIM:147791 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Short Stature And Facioauriculothoracic Malformations |
|
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:609654 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Absent septum pellucidum, Supernumerary nipple, Patent foramen ovale, ... |
OMIM:613884 |
Meckel Syndrome 14 |
|
Microphthalmia, Occipital encephalocele, Holoprosencephaly, Single ventricle |
OMIM:619879 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Camptodactyly of finger, Adrenal hypoplasia, Microceph... |
OMIM:249000 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia... |
OMIM:615363 |
Temtamy Syndrome |
|
Micrognathia, Short toe, Thick lower lip vermilion, Microphthalmia, Abnormal palate morphology |
ORPHA:1777 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida |
ORPHA:1104 |
Microform Holoprosencephaly |
|
Maternal diabetes, Microcephaly, Hypothyroidism, Panhypopituitarism, Holoprosencephaly, EMG: myop... |
ORPHA:280200 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Steinfeld Syndrome |
|
Microphthalmia, Absent gallbladder, Holoprosencephaly, Abnormal heart morphology |
OMIM:184705 |
Estrogen Resistance Syndrome |
|
Osteopenia, Increased circulating gonadotropin level, Absence of secondary sex characteristics, H... |
ORPHA:785 |
Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... |
ORPHA:633 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... |
OMIM:608670 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventric... |
OMIM:239850 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, Microphthalmia, High palate, Cleft palate |
ORPHA:1135 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Micrognathia, ... |
OMIM:179613 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcephaly, Cryptorchidism, Microphthalmia, Inferior cerebellar vermis hypoplasia... |
ORPHA:139471 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular aortic stenosis |
OMIM:217085 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Situs inversus totalis, High palate, Hypodontia, Narrow mouth, Microglossia |
OMIM:612776 |
Diabetic Embryopathy |
|
Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the... |
ORPHA:1926 |
Holoprosencephaly 1 |
|
Diabetes insipidus, Adrenal hypoplasia, Alobar holoprosencephaly, Microcephaly, Cerebellar hypopl... |
OMIM:236100 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patellar hypoplasia, Long philtrum, Atrial septal defect, Patent foram... |
OMIM:619189 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect, Micrognathia |
OMIM:243440 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Joubert Syndrome 18 |
|
Lobulated tongue, Retrognathia, Ventricular septal defect, Cleft palate |
OMIM:614815 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Increased overbite, Abnormally large globe |
OMIM:618504 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Down... |
ORPHA:217017 |
Cog4-Cdg |
|
Hypercholesterolemia, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ... |
OMIM:617022 |
Cofs Syndrome |
|
Microphthalmia, Everted lower lip vermilion, Micrognathia |
ORPHA:1466 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Cleft palate, Abnormal ... |
OMIM:618494 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... |
OMIM:222470 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses,... |
OMIM:253250 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Inguinal hernia, Increased mean platelet volume, Camptodactyly |
OMIM:616737 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegaly, Thrombocytopenia, Aplasia/Hy... |
ORPHA:290 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Cerebellar hypopl... |
OMIM:616276 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Thin upper lip vermilion, Oligodontia, Ventricular septal defect |
OMIM:618330 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening |
ORPHA:166100 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Cortical dysplasia, Porencephalic cyst, Hydrocephalus,... |
OMIM:613001 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S... |
ORPHA:79240 |
Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Shortening of all distal phalange... |
OMIM:619135 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati... |
OMIM:613327 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Left atrial enlargement, Abnormality of thyroid physiology, Myocarditis, Dilat... |
ORPHA:563 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal... |
OMIM:301043 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequence, Small hand, Cleft palate... |
OMIM:619980 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Grange Syndrome |
|
Ventricular septal defect, Short palm |
ORPHA:79094 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia, Retrognathia |
OMIM:614583 |
Matthew-Wood Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas... |
ORPHA:2470 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microdontia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Atrial septal defect, Microp... |
ORPHA:2728 |
Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Ventricular septal defect, Broad alveolar ridges |
OMIM:314320 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... |
ORPHA:79086 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Thin upper lip vermilion, Bicuspid aortic valve, Microdontia, Micrognathia... |
OMIM:612474 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Patent foramen ovale, Part... |
ORPHA:1686 |
Aase-Smith Syndrome I |
|
Open mouth, Ventricular septal defect, Cleft palate |
OMIM:147800 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Microphthalmia, Cardiomegaly |
ORPHA:858 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malo... |
OMIM:613680 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Osteopenia, Extramedullary hematopoiesis, Diabetes... |
ORPHA:231222 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Alg12-Cdg |
|
Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Muscular ventricular septal defec... |
ORPHA:79324 |
Filippi Syndrome |
|
Ventricular septal defect, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrat... |
OMIM:272440 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Cerebral calcification, Hemolytic anemia, Microcephaly, Pericardial e... |
OMIM:619487 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt... |
ORPHA:261190 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anu... |
ORPHA:251038 |
Congenital Myopathy 8 |
|
High palate, Cardiomegaly |
OMIM:618654 |
Seckel Syndrome 2 |
|
Microdontia, Microphthalmia, Microglossia, Micrognathia |
OMIM:606744 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... |
OMIM:615102 |
Congenital Aortic Valve Stenosis |
|
Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Left ... |
ORPHA:3093 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Anterior pi... |
OMIM:206900 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Right ventricular hypertrophy |
ORPHA:217563 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... |
ORPHA:98915 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... |
ORPHA:71212 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Bartsocas-Papas Syndrome 2 |
|
Accessory oral frenulum, Micrognathia, Small hand, Bilateral cleft lip and palate, Microphthalmia |
OMIM:619339 |
Syndromic Diarrhea |
|
Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla... |
ORPHA:84064 |
Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia |
ORPHA:2849 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Broad secondary alveolar ridge, High palate, Ventricular septal defect |
ORPHA:3369 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia |
ORPHA:291 |
Delpire-Mcneill Syndrome |
|
Agenesis of corpus callosum, Cortical dysplasia, Ventricular septal defect |
OMIM:619083 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Dilated cardiomyopathy |
ORPHA:66634 |
Weill-Marchesani Syndrome |
|
Short thumb, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Hypoplastic left heart, Hypogon... |
OMIM:615996 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Rhabdomyosarcoma, Microcephaly, Aplasia/Hypoplasia of the c... |
ORPHA:1052 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Eosinophilic infiltration of the esophagus, Multiple muscular ventricular septal defects, Pulmoni... |
OMIM:615508 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Orofacial cleft, Microphthalmia, Tetralogy of ... |
ORPHA:2328 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Cleft p... |
OMIM:602418 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Microphthalmia, Cardiomyopathy |
OMIM:613155 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Thin vermilion border, Long philtrum, ... |
ORPHA:85194 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, High palate, Hepatomegaly |
OMIM:619053 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Micrognathia, High palate, Atrial septal defe... |
OMIM:618142 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Asplenia, Dextrotransposition of the great arteries, Atrial se... |
OMIM:306955 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Micrognathia |
OMIM:616171 |
Holoprosencephaly 7 |
|
Occipital meningocele, Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus cal... |
OMIM:610828 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Cleft lip, Deep philtrum, Cleft palate, Abnormal heart morphology, Downturned ... |
OMIM:618571 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Lens coloboma, Pulmonic stenosis, Microphthalmia, Retrognath... |
OMIM:618914 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Goiter, Delay... |
ORPHA:90674 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Accessory spleen, Adrenal hypoplasia, Morgagni diaphragmatic... |
OMIM:613177 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Hepatosplenomegaly, Hydrocele testis, Hypoplasia of... |
ORPHA:79330 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Cousin Syndrome |
|
Hydrocephalus, Camptodactyly, Hydranencephaly, Microphthalmia, Joint contracture of the hand, Wri... |
OMIM:260660 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Dysplasti... |
OMIM:300967 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect |
OMIM:620184 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr... |
OMIM:269700 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly |
OMIM:601370 |
Holoprosencephaly 2 |
|
Diabetes insipidus, Adrenal hypoplasia, Alobar holoprosencephaly, Microcephaly, Semilobar holopro... |
OMIM:157170 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Ventricular septal defect, Spina bifida, Cryptorchidism, Agenesis of corpus call... |
OMIM:256520 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern... |
ORPHA:468631 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Furrowed tongue, High palate... |
OMIM:616449 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem... |
ORPHA:90041 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Orofacial cleft, Wide mouth, Lo... |
OMIM:243310 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Anophthalmia, Cryptorchidism, Flexion contracture, Male hypogonadism, Subcortical w... |
ORPHA:90322 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular septal defect, U... |
OMIM:618651 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Ventricular septal defect, Abnormal tricuspid valve morphology, Intestinal atresia |
ORPHA:3405 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly, Microcephaly |
ORPHA:2165 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Ventricular septal defect, Decreased re... |
OMIM:146510 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Diffuse cerebral atrophy, Ventricular septal defect, Cryptorchidism, Hypothyroidism, Thin corpus ... |
OMIM:619908 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Decreased respons... |
OMIM:610829 |
Noonan Syndrome 12 |
|
Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, 11 pairs of ribs |
OMIM:618624 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... |
ORPHA:96184 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, Cleft palate, Abnormal heart morphology, Short 5th finger, Narrow ... |
OMIM:239800 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Thick vermilion border, Ventricular septal defect, Downturned corners of mouth |
OMIM:618974 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... |
OMIM:243150 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W... |
OMIM:618067 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas... |
OMIM:616367 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth |
OMIM:246560 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Ventricular septal defect, Dental crowding, Micrognathia, Pierre-Robin sequenc... |
OMIM:617201 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microdontia, Microphthalmia, Widely spaced teeth, Micrognathia |
OMIM:619694 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth... |
ORPHA:2549 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia |
OMIM:607598 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Rieger anomaly, Ventricular septal defect, Micrognathia, Narrow mouth, ... |
OMIM:270450 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Hepatomegaly, Ventricular septal defect, Cleft palate |
OMIM:620210 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermilion... |
OMIM:618950 |
Verheij Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Cleft palate, Short ... |
OMIM:615583 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa... |
OMIM:618348 |
Vici Syndrome |
|
Lymphopenia, Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Dilated cardiomyopathy, ... |
OMIM:242840 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Ventricular septal defect, Aplasia/Hypoplasia of the fibula, Micrognathia... |
ORPHA:2256 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Thin vermilion border, Micrognathia, Narrow mouth |
OMIM:600118 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Anal atresia |
OMIM:619318 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermi... |
OMIM:612938 |
Char Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Thick vermilion ... |
ORPHA:46627 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Dilated cardiomyopathy, Cerebral atrophy, Abnormal cerebral white matter morphology... |
OMIM:618321 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Ventricular septal defect, Bilateral microphthalmos, Abnormal heart morpho... |
ORPHA:369891 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes mellitus, Hypertriglyc... |
OMIM:608594 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Supernumerary tooth, Micro... |
ORPHA:627 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic steno... |
OMIM:616564 |
Idiopathic Pulmonary Arterial Hypertension |
|
Chronic hemolytic anemia, Right ventricular hypertrophy |
ORPHA:275766 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... |
OMIM:246200 |
Pulmonary Hypertension, Primary, 1 |
|
Right ventricular hypertrophy |
OMIM:178600 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy, Decreased circulating aldosterone level, Abnormality of circulating... |
ORPHA:320 |
Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... |
OMIM:203800 |
Woods Syndrome |
|
Thin vermilion border, Ventricular septal defect |
OMIM:615236 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Microcephaly, Secundum atrial septa... |
OMIM:612541 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Orofacial cleft |
ORPHA:324416 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Abnormally large globe, Hyd... |
OMIM:245600 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptor... |
ORPHA:466791 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Thin corpus callosum |
OMIM:616277 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Absent nipple, Aplasia of the thymus, Facial palsy, Hypothyroidism, Congenital hy... |
OMIM:620186 |
Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Micr... |
ORPHA:2059 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Short thumb, Cleft palate, At... |
OMIM:244300 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted low... |
OMIM:616920 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:615279 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia |
OMIM:610125 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Pulmonic stenosis, Atrioventric... |
OMIM:619123 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Hypoplastic left heart, Transposition of t... |
ORPHA:1727 |
Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Downturned corners of mouth, Narrow mouth, Atrial septal defect, Microphth... |
OMIM:611961 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Widely-spaced incisors |
OMIM:300915 |
Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Maternal diabetes, Holoprosencephaly, Posterior pituitary agenesis... |
ORPHA:563612 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... |
ORPHA:31150 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Left ventricular hypertrop... |
ORPHA:746 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Cryptorchidism, Abnormal heart morphology, Hypoplasia of the thymus, Camptodactyly,... |
OMIM:214110 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Complete atrioventricula... |
ORPHA:476126 |
Fabry Disease |
|
Left ventricular hypertrophy, Anemia, Ventricular septal hypertrophy, Delayed puberty |
OMIM:301500 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Multifocal hyperintensity of cerebral white matter on MRI, Hepatomegaly, Facial hypotonia, Cardio... |
ORPHA:308552 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Splenomegaly, Esophageal varix, Foot oligodactyly, Truncus arteriosus |
OMIM:616589 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Microphthalmia, Tetralogy... |
OMIM:153400 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:144010 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Microcephaly, Holoprosencephaly, Microphthalmia, Tetralogy ... |
ORPHA:3186 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Diastasis recti, Asplen... |
OMIM:265380 |
Arachnoid Cyst |
|
Encephalocele, Facial palsy, Posterior fossa cyst at the fourth ventricle, Mild malformation of c... |
ORPHA:2356 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Microcephaly, Cryptorchidism, Hypoplastic left heart, Aplasia/Hypoplas... |
ORPHA:2772 |
49,Xxxxy Syndrome |
|
Cryptorchidism, Hypogonadism, Holoprosencephaly, Hypoplasia of the corpus callosum, Type II diabe... |
ORPHA:96264 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Short philtrum, Microphthalm... |
OMIM:614424 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Micrognathia, Wide mouth, Macroglossia, Short philtrum, Long philtrum,... |
OMIM:615668 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermilion, Gingival overgrow... |
OMIM:220500 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Micrognathia, Duodenal stenosis |
ORPHA:2547 |
Marden-Walker Syndrome |
|
Dextrocardia, Micrognathia, High, narrow palate, Pyloric stenosis, Cleft palate, High palate, Nar... |
OMIM:248700 |
Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp |
OMIM:619698 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Retrognathia, Ventricular septal defect, Hypoplasia of teeth |
OMIM:234050 |
Serkal Syndrome |
|
Orofacial cleft, Malrotation of small bowel, Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Micrognathia, Complete atrioventricular canal defect, Dental malocclusi... |
OMIM:611174 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Gingival overgrowth, High palate |
OMIM:269920 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Holoprosencephaly, Microcephaly |
ORPHA:2163 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa... |
ORPHA:412 |
Endocrine-Cerebroosteodysplasia |
|
Absent septum pellucidum, Adrenal hypoplasia, Focal polymicrogyria, Cryptorchidism, Hydrocephalus... |
OMIM:612651 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Cleft palate, Micrognathia |
OMIM:602196 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Thin upper lip vermilion, Short metacarpal, Ventricular septal defe... |
OMIM:616651 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, Mitral valve... |
OMIM:618874 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Micrognathia, Thin vermilion border, Long philtrum, Microphthalmia |
ORPHA:1438 |
Cohen Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dent... |
ORPHA:193 |
Immunodeficiency 9 |
|
Myopathy, Hypoplasia of the thymus |
OMIM:612782 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Increased mean platelet volume, Abnormality of the endocrine system, Flexion con... |
ORPHA:487796 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Malar prominence, Microphthalmia, Micrognathia |
ORPHA:48431 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morpholog... |
ORPHA:324410 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... |
OMIM:249270 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Esophageal diverticulum, Micrognathia, Complete atrioventricula... |
OMIM:617925 |
Isolated Klippel-Feil Syndrome |
|
Anal atresia, Ectopic anus, Ventricular septal defect, Cleft palate |
ORPHA:2345 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, Atrial septal defect, Left ventricular hy... |
ORPHA:230851 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Hypoplastic left heart, Bif... |
ORPHA:2001 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Small hand, Wide mout... |
OMIM:617450 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thumb, Short 1st metacarpa... |
OMIM:609053 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Intestinal malrotation, Micrognathia... |
ORPHA:7 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Hepatomegaly |
OMIM:618805 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ... |
OMIM:113000 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Holoprosencephaly, Pancreatic a... |
ORPHA:556955 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Cryptorchidism... |
ORPHA:500159 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent foramen ovale, Partial absence of cerebellar vermis, Hydrocele testis, Proximal muscle wea... |
ORPHA:280633 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Patent foramen ovale, Coronary-pulmonary artery fistula, Micrognathia |
OMIM:619699 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Wide mouth, Short foot, Short philtrum, Short palm, Microphthalmia |
ORPHA:163966 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Agen... |
OMIM:218350 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Microdontia, Tetralogy of Fall... |
OMIM:601005 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Hy... |
OMIM:618325 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, C... |
OMIM:615948 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Microphthalmia |
ORPHA:3412 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Microretrognathia, Carious teeth, Muscular ventricular septal defect, ... |
OMIM:278250 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Micrognathia, Carious teeth, Abs... |
ORPHA:96097 |
Fibular Hemimelia |
|
Thrombocytopenia, Anophthalmia, Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Treacher Collins Syndrome 3 |
|
Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia |
OMIM:248390 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Cleft palate, Downturned corners of mouth, Hemiatrophy of upper limb, High palate, ... |
ORPHA:163649 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Hepatomegaly, Anophthalmia, Absent septum pellucidum, Abnormal c... |
ORPHA:2538 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Cerebral edema |
OMIM:619355 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Micrognathia, Ventricular septal defect, Malabsorption |
ORPHA:452 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Cardiomegaly, Micrognathia, Cleft palate, Unilateral clef... |
OMIM:616897 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... |
ORPHA:2299 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hyperthyroidism, Diabetes mellitus, Facial palsy, Goiter, Quadriceps muscle weakness, Hypothyroid... |
ORPHA:254892 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... |
ORPHA:3282 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Hypoplasia of the brainstem, ... |
OMIM:615636 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia, Camptodactyly of 2nd-5th fingers, Unilateral cryptorchidism |
OMIM:206920 |
Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Micrognathia, High, narrow palate, Deep phil... |
OMIM:158170 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Retrognathia, Ventricular septal defect, Cleft palate |
ORPHA:52055 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Micrognathia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Thrombo... |
ORPHA:49827 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Cleft upper lip, Abnormality of the dentition, Micrognathia, Patellar ... |
ORPHA:96167 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Camptodactyly of finger, Hypoplasia of the musculature, Cryptorchidism, Tricuspid v... |
ORPHA:1101 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... |
OMIM:174300 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, L... |
OMIM:608149 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Cleft pal... |
OMIM:607597 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Atrial s... |
OMIM:619769 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Microcephaly, Tetralogy of Fallot, Lobar holoprosencephaly |
OMIM:614701 |
Emanuel Syndrome |
|
Broad jaw, Ventricular septal defect, Truncus arteriosus, Dental crowding, Delayed eruption of pr... |
OMIM:609029 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Wide m... |
OMIM:157800 |
Teebi-Shaltout Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mou... |
OMIM:272950 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231214 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... |
ORPHA:1782 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Downturned corners of mouth,... |
OMIM:619503 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Secundum atrial septal defec... |
OMIM:214800 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Ventricular septal defect, Microm... |
OMIM:210710 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Flexion contrac... |
ORPHA:79243 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Thick lower lip vermilion, Submucous cleft hard... |
OMIM:619103 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... |
ORPHA:364577 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Atrial septal defect, Hypothyroidism, Hypoparathyroidism, Hyperthyroidi... |
ORPHA:567 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... |
ORPHA:1071 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia o... |
OMIM:257850 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty,... |
ORPHA:819 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Short palm, ... |
ORPHA:268249 |
Temtamy Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of teeth, Short 2nd toe, Long philtrum, Microphthalmia |
OMIM:218340 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Micrognathia, Esophageal atresia, Deep philtrum, Cleft palate, Atrial ... |
OMIM:610536 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Hypoplasia of... |
OMIM:309520 |
Charge Syndrome |
|
Anophthalmia, Hypogonadotropic hypogonadism, Facial palsy, Microcephaly, Aqueductal stenosis, Cry... |
ORPHA:138 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Holoprosencephaly, Microphthalmi... |
ORPHA:141099 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Micrognathia, ... |
OMIM:145420 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Mucolipidosis Type Ii |
|
Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Splenomegaly, Knee flexion co... |
ORPHA:576 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Truncus arteriosus, Retrognathia |
OMIM:617516 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C... |
ORPHA:457193 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Chronic sinusitis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Oligodontia, ... |
OMIM:617061 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect, Micrognathia |
OMIM:616901 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Thick lower lip vermi... |
OMIM:618027 |
Moebius Syndrome |
|
Micrognathia, Abnormality of the dentition, High palate, Lower limb undergrowth, Microphthalmia, ... |
OMIM:157900 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Orofacial cleft, Short ribs |
OMIM:615630 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Exaggerated cupid... |
OMIM:615879 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Cleft palate |
OMIM:613456 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Ventricular septal defect, Micrognathia, Cleft palate, High palate, Retrognathia |
OMIM:617164 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Thin vermilion border, Long philtrum, Mic... |
OMIM:214150 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Supernumerary nipple, Microcephaly, Cryptorchidism, Cerebral atrophy |
OMIM:617635 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the cerebellum, Congenital diaphragmatic hernia,... |
ORPHA:818 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Short middle phalanx of the ... |
OMIM:190685 |
Pontocerebellar Hypoplasia, Type 17 |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Secundum atrial septal defect, Hypoplasi... |
OMIM:619909 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Thick vermilion border, Short philtrum, Na... |
ORPHA:447980 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Ventricular septal defect, Dextrocardia, Microcephaly, Hypothyroidism, Cryptorchidi... |
OMIM:300166 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's... |
ORPHA:464738 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Absent sept... |
ORPHA:95494 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia o... |
OMIM:106260 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Distal Deletion 19P |
|
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Tricuspid val... |
ORPHA:96129 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Hydrocephalus,... |
OMIM:605627 |
Cat-Eye Syndrome |
|
Microphthalmia, Anal atresia |
ORPHA:195 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Intestinal malrotation,... |
ORPHA:99776 |
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 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Ventricular septal defect, Truncus arteriosus, Dental crowd... |
ORPHA:96170 |
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 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short palm, Thin upper lip vermilion, Micrognathia, Small hand, Short foot, Thin vermilion border... |
OMIM:241410 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Missing ribs, Cleft palate, F... |
OMIM:251230 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis... |
ORPHA:79259 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Hyp... |
OMIM:617751 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long p... |
OMIM:152950 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip vermilion |
OMIM:617883 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Cleft palate |
ORPHA:1770 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Diffuse cerebral atrophy, Ventricular septal defect, Microcephaly, Precocious puber... |
OMIM:270400 |
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 |
2Q31.1 Microdeletion Syndrome |
|
Short palm, Ventricular septal defect, Micrognathia, Deep philtrum, Cleft palate, Downturned corn... |
ORPHA:251014 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Anophthalmia, Foot joint contracture, Basal ganglia calcification, Cryptorchidism, ... |
ORPHA:90321 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Deep philtrum, Hepatosplenomegaly, Wide mo... |
OMIM:606003 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Micrognathia, Splenomegaly, Al... |
OMIM:235255 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Abnormality of the dentition, Orofacial cleft, High palate, Short philtrum, Ever... |
ORPHA:65286 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Dilated cardiomyopathy, Wide mou... |
ORPHA:261250 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of the anteri... |
ORPHA:75389 |
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 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Atrial septal defect, Agenesis of ... |
OMIM:312870 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Bilateral microphthalmos, Cleft palate, Abnormal heart morpholog... |
OMIM:154500 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Abnormal cortical gyration, Microcephaly, ... |
OMIM:614576 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Type I diabetes... |
ORPHA:436252 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Absent thumb, Anomalous pulmonary venous return, Aplasia/Hypoplasia of... |
ORPHA:392 |
Warsaw Breakage Syndrome |
|
Wide mouth, High palate, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Absent septum pellucidum, Congenital diaphragmatic hernia, Microcephaly, Hydrocepha... |
ORPHA:2556 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Diabetes insipidus, Absent septum pellucidum, Microcephaly, Lobar holoprosenc... |
OMIM:618500 |
Martsolf Syndrome 1 |
|
Short palm, Short metacarpal, Micrognathia, Hypoplasia of the maxilla, Short toe, Cardiomyopathy,... |
OMIM:212720 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Cachexia, Hype... |
ORPHA:275761 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Abnormally large globe, Microg... |
ORPHA:1655 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Abnormal cortical gyration, Microcephaly, Cryptorchidism, Myelomenin... |
OMIM:219000 |
Faciocardiorenal Syndrome |
|
Cleft palate, Endocardial fibroelastosis, Hypodontia, Tricuspid valve prolapse, Narrow mouth, Smo... |
ORPHA:1973 |
Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism... |
OMIM:300514 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Kury-Isidor Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth, Long phi... |
OMIM:619762 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia,... |
OMIM:164200 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal heart morphology, Hypoplast... |
ORPHA:2209 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, 10 pairs of ribs, Anal stenosis, Short humerus, Ventricular septal defect, Clef... |
OMIM:117650 |
Mosaic Trisomy 1 |
|
Microretrognathia, Ventricular septal defect, Thick lower lip vermilion, Cleft palate, Orofacial ... |
ORPHA:1692 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Micrognathia, Bilateral microphthalmos, Short philtrum, Abnormal heart morphology |
OMIM:610758 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Abnormal dental morphology, Ventricular septal defec... |
ORPHA:1458 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Cleft upper lip, Short 2n... |
OMIM:612582 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Diastema, Downturned ... |
ORPHA:329224 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Holoprosencephaly, Atrial septal defect, Atrioventri... |
ORPHA:672 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, High, narrow ... |
OMIM:619312 |
Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Tetralogy of Fallot, Ventricular septal defect, Short philtrum |
ORPHA:3306 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Aganglionic megacolon, Ventricular septal defect |
OMIM:613870 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Neuhauser Syndrome |
|
Osteopenia, Hypercholesterolemia, Primary hypothyroidism |
OMIM:249310 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal diabetes |
ORPHA:563609 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Micrognathia, Missing ribs, Orofacial cleft, Narrow mouth, Microphthalmia,... |
ORPHA:3301 |
Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Malar flattening, Ventricular septal defect, Missing ribs |
ORPHA:1488 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Small h... |
OMIM:610759 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Partial anomalous pulmonary veno... |
OMIM:619657 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Holoprosencephaly 4 |
|
Semilobar holoprosencephaly |
OMIM:142946 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In... |
ORPHA:79474 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity |
ORPHA:69663 |
Hartsfield Syndrome |
|
Diabetes insipidus, Microcephaly, Alobar holoprosencephaly, Cryptorchidism, Gonadotropin deficien... |
OMIM:615465 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Holoprosencephaly 3 |
|
Central diabetes insipidus, Holoprosencephaly, Microcephaly |
OMIM:142945 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Ventricular septal defect, Microcephaly, Hypoplastic anterior limbs of the internal... |
OMIM:615673 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Dental crowding, Intestinal malrotation, Carious teeth, Downturned cor... |
OMIM:617602 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Micromelia, Hypoplasia of the radius, Short ribs, Long philtrum |
OMIM:617895 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia, Hypothyroidism |
ORPHA:2479 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, ... |
OMIM:201180 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect |
OMIM:126320 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Complete atrioventri... |
OMIM:617063 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect |
OMIM:601927 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Micrognathia, Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia |
OMIM:156610 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Microphthalmia |
OMIM:614105 |
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 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Microcepha... |
OMIM:100300 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Dilated cardiomyopathy, Pier... |
OMIM:614921 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Thick vermilion border, Cardiomegaly |
ORPHA:3137 |
C Syndrome |
|
Hepatomegaly, Short metacarpal, Ventricular septal defect, Accessory oral frenulum, Micromelia, M... |
OMIM:211750 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Gingival overgrowth, Macrogl... |
ORPHA:96191 |
Monosomy 13Q14 |
|
Microphthalmia, Holoprosencephaly, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:1587 |
Desbuquois Syndrome |
|
Ventricular septal defect, Small hand |
ORPHA:1425 |
King-Denborough Syndrome |
|
High palate, Deep philtrum, Ventricular septal defect |
OMIM:619542 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... |
ORPHA:3472 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Rhizomelia, Hamartoma of tongue, Cleft lip, Short tibia, Hypoplas... |
OMIM:616300 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula |
ORPHA:1923 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Reduced cerebral white matter volume, Hypoplasia of the brainstem, Sec... |
OMIM:614961 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Abnormality of the dentition, Thick... |
ORPHA:3071 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Open mouth, Ventricular septal defect, Short philtrum |
OMIM:301039 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Ventricular septal defect,... |
OMIM:619306 |
Atelis Syndrome 2 |
|
Micrognathia, Diastema, Thick lower lip vermilion, Supravalvar pulmonary stenosis, Downturned cor... |
OMIM:620185 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Ventricular septal defect, Dental crowding, Micrognathia, High, narrow... |
ORPHA:2789 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abn... |
ORPHA:477817 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Absent nipple, Microce... |
OMIM:612289 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Abnormality of t... |
ORPHA:251028 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, High palate, Long phi... |
OMIM:616652 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Ventricular septal defect, Micromelia, Long philtrum, Atrial septal defect, Pa... |
OMIM:618870 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, Microcephaly, Anencephaly, Primary hypothyroidism, Agenesis of cor... |
ORPHA:96176 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... |
OMIM:302350 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Cleft lip, Dental malocclusion,... |
OMIM:616894 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Micrognathia, Cleft palate, Long philtrum |
ORPHA:2505 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Aplasia/Hypoplasia ... |
ORPHA:2143 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, ... |
ORPHA:3464 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morphology, Umbilical ... |
ORPHA:254534 |
Bresek Syndrome |
|
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate |
ORPHA:85284 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Cleft palate |
OMIM:257910 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Short palm, Pericardial lymphangiectasia, Ventricular septal defect, P... |
OMIM:235510 |
Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cleft palate, Downturned corners of mout... |
OMIM:614230 |
8Q21.11 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Abnormality of the dentition, Micrognathia, Downturned corners of mouth,... |
ORPHA:284160 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Micro... |
OMIM:605039 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, Bicuspid aortic valve |
OMIM:617168 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Atrial Septal Defect, Ostium Primum Type |
|
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement, Right atrial... |
ORPHA:99106 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micrognathia |
OMIM:610756 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Gingi... |
OMIM:212066 |
Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Methemoglobinemia, Elevated c... |
OMIM:250790 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Chromosome 18Q Deletion Syndrome |
|
U-Shaped upper lip vermilion, Thin upper lip vermilion, Mandibular prognathia, Absence of the pul... |
OMIM:601808 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Microgna... |
OMIM:309500 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro... |
OMIM:618727 |
Holt-Oram Syndrome |
|
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a... |
OMIM:142900 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Pe... |
ORPHA:97360 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B... |
ORPHA:1942 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Protruding tongue, High palate, Short philtrum... |
OMIM:300963 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Hypoplasia of the calcaneus, Microphthalmia, Distal shortening of l... |
OMIM:300863 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Phace Association |
|
Ventricular septal defect, Optic nerve hypoplasia, Congenital hypothyroidism, Cerebellar hypoplas... |
OMIM:606519 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Cryptorchidism, Hypoplasia of the olfactory bulb, Hypogonadism, Microphthalmia |
ORPHA:2250 |
Ogden Syndrome |
|
Microretrognathia, High, narrow palate, Everted upper lip vermilion, Ventricular septal defect |
ORPHA:276432 |
Prader-Willi Syndrome |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
OMIM:176270 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi... |
OMIM:192430 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Partial anomalous pulmo... |
OMIM:301044 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Colonic atresi... |
OMIM:309801 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, High palate, Short tibia, Atrioventricular canal defect, Hamartoma of tongue, Adact... |
ORPHA:2751 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Hypogonadism, Left ... |
OMIM:209900 |
Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Anal stenosis, Short humerus, Ventricular septal defect, Optic disc hypop... |
OMIM:607323 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormally large globe, Secundum atrial sept... |
OMIM:249420 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hyp... |
ORPHA:264200 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectourethral fistula, Clef... |
OMIM:300000 |
Joubert Syndrome 37 |
|
Microphthalmia, High palate, Hepatomegaly |
OMIM:619185 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, High palate, Thick vermilion border, Short sternum, Retrognathia, Pate... |
OMIM:620113 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Microcephaly, Cryptorchidism, Congenital hypothy... |
ORPHA:2519 |
Keutel Syndrome |
|
Ventricular septal defect, Recurrent sinusitis, Short distal phalanx of finger |
ORPHA:85202 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Short thumb, Cleft palate, Esophagitis,... |
OMIM:612562 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... |
ORPHA:508 |
Diamond-Blackfan Anemia 10 |
|
Malar flattening, Ventricular septal defect, Cleft palate, Micrognathia |
OMIM:613309 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Cranial hyperostosis, Imbalan... |
ORPHA:330015 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
High palate, Retrognathia, Ventricular septal defect, Bifid uvula |
OMIM:300472 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Microcephaly, Atrial septal defect, Microphthalmia, Leukemia |
ORPHA:2526 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl... |
ORPHA:365 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel diverticulum |
OMIM:616395 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ventricular septal defect, Cerebral calcifi... |
OMIM:620024 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect |
OMIM:219730 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, Secondary mic... |
OMIM:618820 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy |
ORPHA:370959 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Short middle phalanx of finger, Micrognathia |
OMIM:614219 |
Momo Syndrome |
|
Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi... |
ORPHA:2563 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Steatorrhea, Persistence of hemo... |
OMIM:260400 |
Prune Belly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Atrial septal defect, Volvulus, Tetralogy of F... |
ORPHA:2970 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Hypoplastic frontal sinuses, S... |
OMIM:300712 |
Refsum Disease |
|
Splenomegaly, Microphthalmia, Short metacarpal, Cardiomyopathy |
ORPHA:773 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Short palm, Microretrognathia, Bicuspid aortic v... |
ORPHA:508498 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Persistence of primary teeth, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:201000 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Micrognathia, Cleft palate, Hi... |
OMIM:130720 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Sub... |
ORPHA:457279 |
Fabry Disease |
|
Abnormal endocardium morphology, Abnormal aortic valve morphology, Delayed puberty, Left ventricu... |
ORPHA:324 |
Chime Syndrome |
|
Short palm, Ventricular septal defect, Abnormal dental morphology, Aplastic clavicle, Abnormality... |
ORPHA:3474 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Wide mouth, Thin vermilion border, Solitary median maxillary central i... |
ORPHA:217346 |
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 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Female hypogonadism, Microcephaly, Acute lymphoblastic leukemia, T lymphocytop... |
OMIM:208900 |
Ring Chromosome 7 Syndrome |
|
Microcephaly, Situs inversus totalis, Hydrocele testis, Hypogonadism, Holoprosencephaly, Cerebral... |
ORPHA:1449 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Hydrocephalus, Abnormality of the ... |
ORPHA:2969 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upper lip, Cleft palat... |
OMIM:614294 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Micrognathia, Cleft lip, Dysplastic tricuspid valve, Cleft palate, Abn... |
ORPHA:1724 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Th... |
OMIM:301056 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Ventricular septal defect, Cleft palate, Thin vermilion border, Hypodontia, Long phil... |
ORPHA:254346 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Dental malocclusion, Wide mouth, Thick vermilion border, Pulmonic sten... |
OMIM:610733 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Delayed eruption of primary ... |
OMIM:300952 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Focal Dermal Hypoplasia |
|
Abnormal dental morphology, Ventricular septal defect, Abnormal dental enamel morphology, Abnorma... |
ORPHA:2092 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Missing ribs, Complete atrioventricular canal defect, Cleft palate, Mitral... |
OMIM:151100 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Ventricular septal defect, Microcephaly |
OMIM:610832 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Hypoplasia of the maxilla, Microspherophakia, Tooth malposition, Narro... |
OMIM:277600 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Abnormal ... |
ORPHA:1507 |
Warburg Micro Syndrome 3 |
|
Downturned corners of mouth, Microphthalmia, Narrow palate, Micrognathia |
OMIM:614222 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Odontogenic keratocysts of the jaw, Cleft upper lip, Hamartomatous stomach... |
OMIM:109400 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Anteriorly placed anus, Short clavicles, Short femoral neck, Atrial se... |
OMIM:617159 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Cleft palate, Ectopic anus, High palate, Hypopl... |
ORPHA:2473 |
Mend Syndrome |
|
Asymmetry of the mouth, Micrognathia, Cleft palate, Abnormal heart morphology, High palate, Micro... |
ORPHA:401973 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Paranasal sinus hypoplasia, Ventricular septal defect, Dental crowdin... |
OMIM:300373 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Natal tooth, Cleft palate, Cardiomegaly |
ORPHA:158687 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Microphthalmia, Anophthalmia |
OMIM:615877 |
Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Adactyly, Aplasia/Hypoplasia of ... |
ORPHA:989 |
Fryns Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Ventricular septal defect, Aganglionic megacolon, ... |
OMIM:229850 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Mitral valve prolapse, High palat... |
OMIM:121050 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Ventricular septal defect, Micrognathia, Short distal phalanx of the 5th finger... |
OMIM:620073 |
Digeorge Syndrome |
|
Ventricular septal defect, Parathyroid agenesis, Decreased circulating parathyroid hormone level,... |
OMIM:188400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Ventricular septal defect, De... |
OMIM:300998 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Diabetes ins... |
ORPHA:423479 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Pericardial effusion,... |
OMIM:139210 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Polysplenia, Atrial septal defect, Left vent... |
OMIM:613610 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Microcephaly,... |
ORPHA:96149 |
Ohdo Syndrome, X-Linked |
|
Hiatus hernia, Micrognathia, Short thumb, Thin vermilion border, High palate, Widely spaced teeth... |
OMIM:300895 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Micrognathia |
ORPHA:3078 |
Frontorhiny |
|
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Microphthalmia, Bifid tongue |
ORPHA:391474 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick... |
ORPHA:2126 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Aganglionic megacolon, Trismus, Cleft... |
OMIM:154400 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
1Q21.1 Microdeletion Syndrome |
|
Short foot, Abnormal cardiac septum morphology, High palate, Long philtrum, Microphthalmia, Ankyl... |
ORPHA:250989 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphol... |
ORPHA:534 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft lip, Ventricular septal defect, Cleft palate |
OMIM:611812 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... |
OMIM:616145 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, Eosinophilic infiltrati... |
OMIM:615582 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Deep philtrum, Short ribs, Micromelia, Cardiomegaly |
OMIM:613320 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Unilateral microphthalmos |
OMIM:615085 |
Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Absent toe, Esophageal varix, Absent hand, Microphthalmia, T... |
ORPHA:974 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:256550 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... |
OMIM:617052 |
Stromme Syndrome |
|
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Micrognathia, Cleft palate, Wide... |
OMIM:243605 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Zellweger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Malabsorption, Micrognathia, Pyloric stenosis, Abnormali... |
ORPHA:912 |
Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial... |
OMIM:107480 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Absent thumb, Anal atresia, Agenesis of permanent teeth |
OMIM:617244 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Abnormality of the dentition, Broad philtrum, Conical tooth |
ORPHA:228390 |
8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Short femur, Truncus arteriosus, Optic nerve hypopla... |
ORPHA:508488 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Micrognathia, Cardiomyopathy, Hypertrophic cardiomyop... |
OMIM:605275 |
Refsum Disease, Classic |
|
Cardiomyopathy, Short fourth metatarsal, Cardiomegaly |
OMIM:266500 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Microphthalmia |
OMIM:167730 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Ventricular septal defect, Protruding tongue, Diastema, Absent frontal sin... |
OMIM:301040 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca... |
OMIM:309000 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Micrognathia, Short metatarsal, Patellar hypoplasia, Hand monodactyly, High palate, Atrial septal... |
OMIM:609945 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Cleft upper lip, Cleft palate, Atrial septal defect, ... |
ORPHA:2008 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ... |
OMIM:608978 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Hepatospleno... |
OMIM:608013 |
Frontofacionasal Dysplasia |
|
Microphthalmia, Non-midline cleft lip, Cleft palate |
ORPHA:1791 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... |
ORPHA:3097 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Filippi Syndrome |
|
Thin vermilion border, Ventricular septal defect, Short philtrum |
ORPHA:3255 |
Phaver Syndrome |
|
Myelomeningocele, Ventricular septal defect, Camptodactyly of finger |
ORPHA:2876 |
Viss Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Ventricular septal defect, Coro... |
OMIM:619472 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Microcephaly, Supernumerary nippl... |
OMIM:305600 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Short hallux, Cardiomegaly, Wide mouth, Thick vermilion border, ... |
ORPHA:1517 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Ventricular septal ... |
ORPHA:261494 |
Microphthalmia With Limb Anomalies |
|
Macrodontia, Hypoplasia of the premaxilla, Cleft upper lip, Micrognathia, Hypoplasia of the maxil... |
ORPHA:1106 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Micrognathia, Cleft lip, Furrowed tongue, High palate, Broad alveolar ... |
OMIM:616975 |
Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Hypoplasia of the radius, Atrial septal defect, Microphthalmia, Duoden... |
OMIM:603467 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Hypoplastic scapulae, Short clavicles |
OMIM:169550 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Hepatomegaly, Ventricular septal defect, Micrognathia, Short philtrum, At... |
ORPHA:52 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Partial agenesis of the corpus callos... |
OMIM:222448 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Ventricular septal defect, Micrognathia, Thick vermilion border, Short distal p... |
OMIM:250410 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Short thumb, Supernumerary tooth,... |
OMIM:268400 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of the frontal sinuses, Microphthalmi... |
ORPHA:306542 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De... |
OMIM:234100 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Microphthalmia, Congenital a... |
ORPHA:137675 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f... |
ORPHA:1780 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Patent ... |
ORPHA:488618 |
Rodrigues Blindness |
|
Microphthalmia, Tooth malposition |
OMIM:268320 |
Seckel Syndrome 9 |
|
Atrial septal defect, Ventricular septal defect, Micrognathia |
OMIM:616777 |
Micro Syndrome |
|
Microphthalmia, High palate, Short philtrum, Micrognathia |
ORPHA:2510 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Elevated hemoglobin A1c, Flexion contracture, Left vent... |
OMIM:619127 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor |
ORPHA:363618 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Partial absence... |
ORPHA:955 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Fraser Syndrome 2 |
|
Microphthalmia, Hypoplasia of the thymus |
OMIM:617666 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Short... |
ORPHA:2438 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cleft palate, Abnormal heart morphology, Downtu... |
ORPHA:453499 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Short palm, Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Pyloric ste... |
ORPHA:261330 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Short metacarpal, Hypoplastic scapulae, Cleft upper lip, Hypoplasia of the maxilla... |
OMIM:263650 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Rhizomelia, Micrognathia, Subvalvular aortic stenosis, Narrow mouth, A... |
OMIM:614114 |
Opitz Gbbb Syndrome |
|
Natal tooth, Enlarged ovaries, Ventricular septal defect, Micrognathia, Cleft lip, Tracheoesophag... |
ORPHA:2745 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... |
ORPHA:369929 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:235200 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Ventricular septal defect, Splenomegaly, Gingival overgrowth, Abnormal hea... |
ORPHA:354 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Scapular winging, Bicuspid aortic valve, Microcephaly, Bilateral cryptorchidism, Partial anomalou... |
OMIM:150230 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Abnormal dental enamel morpho... |
ORPHA:2710 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Microcephaly, Cryptorchi... |
OMIM:227645 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Dental malocclusion, Shortening of all distal phalanges of the fingers... |
OMIM:616202 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cleft upper lip, Pyloric stenosis, Cleft palate... |
OMIM:610443 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Micrognathia |
OMIM:617306 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia, Hypoplasia of the maxil... |
ORPHA:79345 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Narrow mouth, Cardiac fibroma, Oro... |
ORPHA:77301 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Partial anomalo... |
OMIM:617478 |
Oculo-Palato-Cerebral Syndrome |
|
High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia |
ORPHA:2714 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, C... |
OMIM:600001 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Diaste... |
OMIM:244450 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Type 1 muscle fiber atrophy, Cerebral atrophy, Type 2 muscle fiber predominan... |
OMIM:619036 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Micromelia, Cleft... |
OMIM:122470 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cleft p... |
OMIM:263520 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Micrognathia, S... |
OMIM:105650 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Micrognathia, Narrow philtrum, Thick vermi... |
OMIM:619268 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Mitral atresia, Microcephaly, Partial agenes... |
OMIM:220111 |
Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphragm morphology, Parti... |
ORPHA:185 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Short metacarpal, Short hallux, Micrognathia, Agenesis of mandibular central i... |
OMIM:268305 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Microcep... |
ORPHA:209905 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Pol... |
ORPHA:371428 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Necrotizing enterocolitis, Cardiomegaly |
OMIM:201475 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Hypoplasia of the maxilla, Small hand, Oligodon... |
OMIM:609460 |
Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestina... |
OMIM:270100 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Micrognathia, Esophageal atresia,... |
OMIM:164280 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Short thumb, Abnormal heart morphology, Anteriorly placed anus, Wide m... |
ORPHA:1708 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Hi... |
OMIM:603457 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:600460 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... |
OMIM:618775 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmia |
OMIM:600901 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Microdontia, Micrognathia, Small hand, Thick vermilion border, Atrial septal de... |
OMIM:620005 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Micrognathia, Absent thumb, Esophageal atresia, Absent radius, Tracheoesophag... |
OMIM:614083 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Short foot, ... |
OMIM:601812 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Micrognathia, Macroglossia, Mesomelia, High palate, Narrow mouth, Pate... |
OMIM:613457 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Retrognathia, Downturne... |
OMIM:301030 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Carious teeth, Small h... |
OMIM:619229 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Micrognathia, Situs inversus totalis, Pyloric stenosis, ... |
ORPHA:2461 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Micrognathia, Dental malocclusion, High palate, Widely spaced teeth, L... |
OMIM:606232 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Microcephaly, Cryptorchidism, Anterior hyp... |
OMIM:607932 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Orofacial cl... |
ORPHA:568 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Lip pit, Hypodontia, Microphthalmia, Abnormal palate morphology |
ORPHA:1236 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Male hypogonadism, Obesity |
OMIM:619471 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... |
OMIM:610978 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening... |
OMIM:613717 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Optic nerve h... |
ORPHA:453504 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Thin upper lip vermilion, Short fourth metatarsal, Short humerus, Ventric... |
OMIM:134780 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Optic nerve h... |
ORPHA:352665 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Mitral v... |
ORPHA:444072 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Long philtrum, Narrow mouth |
OMIM:615663 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Hypoplasia of the maxilla, Microspherophakia, Tooth ... |
OMIM:608328 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Submucous c... |
OMIM:223370 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Short metacarpal, Ventricular septal defect, Micrognathia |
ORPHA:166035 |
3Mc Syndrome 1 |
|
Ventricular septal defect, Dental crowding, Cleft upper lip, Cleft lip, Cleft palate, Short foot,... |
OMIM:257920 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmia |
OMIM:227650 |
X Small Rings |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Upper limb undergrowt... |
ORPHA:96201 |
Wiedemann-Rautenstrauch Syndrome |
|
Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Flexion contracture, Hypoplasia of ... |
OMIM:264090 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Wide ... |
OMIM:618454 |
Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Overriding aorta, Ventricular septal defect, Es... |
OMIM:101200 |
Fanconi Anemia |
|
Meckel diverticulum, Hypoplasia of the ulna, Aganglionic megacolon, Micrognathia, Aplasia/Hypopla... |
ORPHA:84 |
Fraser Syndrome |
|
Encephalocele, Anophthalmia, Microcephaly, Cryptorchidism, Myelomeningocele, Umbilical hernia, Mi... |
ORPHA:2052 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Hypoplasia... |
OMIM:600373 |
Alg9-Cdg |
|
Microretrognathia, Thin upper lip vermilion, Villous atrophy, Hepatomegaly, Ventricular septal de... |
ORPHA:79328 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Ankyloglossia |
OMIM:602361 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Micrognathia, Submucous cleft hard palate, Neoplasm of the tongue, Atr... |
ORPHA:3047 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, N... |
ORPHA:99867 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia |
OMIM:613150 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Deep philtrum, High ... |
OMIM:617506 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the dentition, Cardiomegaly |
ORPHA:349 |
Galloway-Mowat Syndrome 3 |
|
Micrognathia, Hiatus hernia, High palate, Narrow mouth, Microphthalmia |
OMIM:617729 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, High palate, Narrow mouth, Malar flattening, Broad philtrum |
ORPHA:2463 |
Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Splenomegaly, Anomalous pulmonary venous return, ... |
OMIM:616368 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly... |
ORPHA:26793 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Hypoplasia of facial musculatur... |
OMIM:164210 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Microretrognathia, Prominence of the premaxilla, Ventricular septa... |
OMIM:602535 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Cardiomegaly, Deep philtrum, Gingival overgrowth, Macroglo... |
OMIM:618143 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Rhizomelia, Micrognathia, Fibular hypoplasia, Hypoplast... |
OMIM:258315 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radius, Mesomel... |
ORPHA:3103 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-dependent diabetes mell... |
ORPHA:2255 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Long philtrum |
OMIM:615145 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, High palate, Hypoplastic cervical vertebrae |
ORPHA:35173 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Dental malocclusion, High palate, Short finger, Microphthalmia, Retrognathia, Malar flattening, B... |
OMIM:601552 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Macroglossia, High palate, Short ... |
ORPHA:261337 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the gingiva,... |
ORPHA:513456 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Wide mouth, Duodenal atresia |
OMIM:617798 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... |
OMIM:619991 |
Eec Syndrome |
|
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... |
ORPHA:1896 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Protruding tongue, Micrognathia, High, narrow palate, Ma... |
OMIM:214100 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Pyloric stenosis, Absent hand, Ectopic anus, Aplasia/Hypoplasia of the... |
ORPHA:3138 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d... |
ORPHA:2729 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Cleft palate, Buphthalmos, Microphthalmia,... |
OMIM:236670 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defect, Hypoplasia of the ... |
OMIM:274000 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Hepatomegaly, Ventricular septal defect, Cleft lip, Thick lower lip ve... |
OMIM:280000 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Malabsorption... |
ORPHA:50 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Microphthalmia, Triangular mouth, Retrognathia |
OMIM:601675 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, 11 pairs of ribs, Tented upper lip vermilion, Ventricular septal defect, H... |
ORPHA:488632 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Short humerus, Aganglionic megacolon, Optic disc hypoplasia, Short hallux... |
ORPHA:959 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Orofacial cleft, Microphthalmia, Malar flattening, Bifid uvula, Hypoplasia of th... |
OMIM:229400 |
Sandhoff Disease |
|
Hepatomegaly, Macroglossia, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Micrognathia, Absent frontal sinuses, Dental m... |
OMIM:102500 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Dental crowding, Splenomegaly, Downturned corners of mou... |
OMIM:618268 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Mitral valve prolapse, High palate, Pulmonic stenosis, Tricuspid valve... |
OMIM:609942 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Tetraamelia Syndrome 1 |
|
Micrognathia, Cleft upper lip, Cleft palate, Microphthalmia, Tetraamelia, Anal atresia |
OMIM:273395 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
OMIM:129900 |
Degcags Syndrome |
|
Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Hiatus herni... |
OMIM:619488 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Abnormal heart morphology, Pulmonic stenosis, Left ventricular hypertrop... |
ORPHA:284984 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Micrognathia, Cleft lip, Cleft palate, Abnormal cardiac septum morphology, Retrogna... |
ORPHA:97297 |
Galloway-Mowat Syndrome 1 |
|
Hiatus hernia, Micrognathia, Hypoplasia of the iris, Wide mouth, High palate, Microphthalmia |
OMIM:251300 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Larsen Syndrome |
|
Short metacarpal, Ventricular septal defect, Cleft upper lip, Short metatarsal, Cleft palate, Hyp... |
OMIM:150250 |
Trichothiodystrophy |
|
Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, High, narro... |
ORPHA:33364 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Micrognathia, Diaste... |
ORPHA:96121 |
Curry-Jones Syndrome |
|
Microphthalmia, Intestinal malrotation |
ORPHA:1553 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Micrognathia, Sh... |
OMIM:613458 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Microcephaly, Elbow flexion contra... |
OMIM:178110 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Monosomy 9P |
|
Abnormality of the dentition, Micrognathia, Cleft palate, High palate, Narrow mouth, Microphthalm... |
ORPHA:261112 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegaly, Lymphadeno... |
OMIM:619418 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Short toe, Orofacial cleft, Thin vermilion border, Everted lower lip v... |
ORPHA:1519 |
Branchiooculofacial Syndrome |
|
Agenesis of cerebellar vermis, Anophthalmia, Facial palsy, Supernumerary nipple, Microcephaly, Cr... |
OMIM:113620 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... |
ORPHA:881 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Short ribs |
OMIM:615503 |
Fucosidosis |
|
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly, Thick lower lip v... |
OMIM:230000 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, ... |
OMIM:620025 |
Ulnar-Mammary Syndrome |
|
Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th finger, Short 4t... |
OMIM:181450 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi... |
OMIM:271640 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Abnormality of the dentition |
ORPHA:1806 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Super... |
ORPHA:434179 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Esophageal atresia, Short thumb, Aplasia of the 1st metacarpal, Trac... |
OMIM:227646 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Narrow palate, High palate, Enlarged kidney |
OMIM:608836 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Su... |
OMIM:235730 |
Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Skeletal muscle atrophy, Multiple joint contractures... |
ORPHA:506 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Anteriorly placed anus, Hypoplastic left heart,... |
OMIM:618748 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Craniotubular Dysplasia, Ikegawa Type |
|
Short palm, Ventricular septal defect, Thick lower lip vermilion, Phthisis bulbi, Long philtrum, ... |
OMIM:619727 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short palm, Thin upper lip vermilion, Micrognathia, Carious teeth, Cleft palate, Narrow mouth, Mi... |
OMIM:616734 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Micrognathia, Deep philtrum, ... |
OMIM:300855 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Micrognathia, Abnormal heart morphology, Mitral valve prola... |
ORPHA:363700 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Bicuspid aortic valve, Mitral valve prolapse, Pulmonic stenosis, Camptod... |
OMIM:613795 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... |
ORPHA:95430 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Hypoplastic scapulae, Cardiomegaly, Micrognathia, Hypoplasia of the odontoid proces... |
OMIM:252500 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Short uvula, Lens coloboma, Submucous cleft hard palate, Downturned corn... |
OMIM:619539 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Micrognathia, Splenomegaly, Cleft palate, Hepatosplenome... |
OMIM:614866 |
Zttk Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cle... |
OMIM:617140 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Cardiomegaly |
OMIM:620306 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Deep philtrum, Double outlet right ventricle, Downturned corners of mo... |
ORPHA:163956 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Thick lower lip v... |
ORPHA:1465 |
Frontonasal Dysplasia 2 |
|
Microphthalmia, Widely spaced teeth, Broad philtrum, Conical tooth |
OMIM:613451 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Absent ... |
ORPHA:464 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Monosomy 22 |
|
Aplasia of the thymus, Microcephaly, Hypochromic microcytic anemia, Hepatosplenomegaly, Contractu... |
ORPHA:96123 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Cleft upper lip, Micrognathia, ... |
OMIM:268300 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Short hallux, Short thumb, Deep philtrum, Shortening of all... |
OMIM:245150 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephalus, Throm... |
ORPHA:163979 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Ventricular septal defect, Di... |
ORPHA:459070 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
High palate, Open mouth, Ventricular septal defect |
OMIM:614653 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, High, narrow palate, Cardiomyopathy, Abnormal myocardium morphology |
ORPHA:228308 |
Renal Agenesis |
|
Ventricular septal defect, Anal atresia |
ORPHA:411709 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Narrow mouth, High palate, Small, conical t... |
ORPHA:2962 |
Tenorio Syndrome |
|
Osteopenia, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly |
ORPHA:465508 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Rhizomelia, Malar flattening, Hemiatrophy |
OMIM:302960 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Abnormal cerebral white matter morphology, Ventricular septal defect, Ventricular septal hypertro... |
OMIM:614947 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit... |
ORPHA:79329 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Papillary thyroid carcinoma |
OMIM:118450 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Hepatomegaly, Ventricular septal defect, Cleft upper lip, High, narrow pal... |
ORPHA:373 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Delayed eruption of teeth, Short metacarpal, Hypoplasia of the ulna, Ven... |
OMIM:143095 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Ventricular septal defect |
OMIM:259770 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Micro... |
OMIM:308300 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Small hand, Fibular hypoplasia... |
ORPHA:444077 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia, High palate |
OMIM:110100 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia |
OMIM:612109 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... |
ORPHA:83471 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, High palate, Atria... |
OMIM:180849 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Retrognathia, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Flexion contracture, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Jacobsen Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Missing ribs, Pyloric stenosis, Short toe, Abn... |
ORPHA:2308 |
Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Cleft lip, Pyloric stenosis... |
ORPHA:1199 |
Hardikar Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac diseas... |
OMIM:301068 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Mandibular prognathia, Ventricular septal defect, In... |
OMIM:616268 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Ventricular septal defect, Short hallux, Cleft upper lip, Micrognathia, Short thu... |
OMIM:194190 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Retrognathia, Optic nerve hypoplasia |
OMIM:614643 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Short philtrum, High palate, Atrial septal defect, Microdontia, Aplasia/Hypoplasia... |
OMIM:135900 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Macroglossia, Splenomegaly, Cardiomegaly |
OMIM:232300 |
Cockayne Syndrome B |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Splenomega... |
OMIM:133540 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Missing ribs, Cleft palate, Microph... |
OMIM:304050 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Microphthalmia |
OMIM:601707 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Micrognathia, High, narrow palate, Dental malocclusion, Cleft palate, ... |
OMIM:163950 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Inguinal hernia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increa... |
OMIM:619534 |
Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated c... |
ORPHA:79318 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Long philtrum |
OMIM:123700 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Anterior pituitary hypoplasia, Microcepha... |
ORPHA:464306 |
Joubert Syndrome 2 |
|
Microphthalmia, High palate |
OMIM:608091 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Intestinal malrotation, Micromelia, Microgn... |
ORPHA:199 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Microcephaly... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Microcephaly... |
ORPHA:363958 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr... |
ORPHA:99050 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Dental crowding, Intestinal malrot... |
ORPHA:353281 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Hepatomegaly, Cardiomegaly, Abnormality of the dentition, Malabsorptio... |
ORPHA:581 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Ankle flexion contracture, Microcephaly, Cryptorchidism, Posterior pit... |
ORPHA:464311 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Carious teeth, Splenomegaly, Cardiomyopathy, Microphthalmia, Enamel hypoplasia |
ORPHA:90324 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Anteriorly pla... |
OMIM:261540 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... |
ORPHA:500095 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal defect, Hypertrophic car... |
OMIM:607721 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Coronal craniosynostosis, Abnormality of neutrophil physiol... |
ORPHA:2968 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Ventricular septal defect, Short philtrum |
OMIM:619575 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Microcephaly, Cryptorchidism, Camptodactyly, Microphthalmia,... |
OMIM:309800 |
Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
Diets-Jongmans Syndrome |
|
Wide mouth, Thin upper lip vermilion, Ventricular septal defect, Duodenal atresia |
OMIM:618846 |
Kabuki Syndrome 1 |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Abnormality of the dentition, M... |
OMIM:147920 |
Costello Syndrome |
|
Ventricular septal defect, Micrognathia, Pyloric stenosis, Thick lower lip vermilion, Mitral valv... |
OMIM:218040 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly,... |
OMIM:182250 |
Early Infantile Epileptic Encephalopathy |
|
Diffuse cerebral atrophy, Ventricular septal defect, Microcephaly, Precocious puberty, Diffuse wh... |
ORPHA:1934 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Isolated Arrhinia |
|
Microphthalmia, Hypoplasia of the nasal bone |
ORPHA:1134 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Williams Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Micrognathia, Rectal prolapse, Atrial septal defect, Microdo... |
ORPHA:904 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palate, Pyloric stenos... |
ORPHA:268261 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect,... |
OMIM:607872 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Short metacarpal, Rhizomelia |
ORPHA:85167 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Micrognathia, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia,... |
OMIM:253280 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Dental crowding, Intestinal malrot... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Dental crowding, Intestinal malrot... |
ORPHA:353277 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal steno... |
ORPHA:141127 |
Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Thick vermilion border, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Cockayne Syndrome |
|
Hepatomegaly, Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Splen... |
ORPHA:191 |
Witteveen-Kolk Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Short palm, High, narrow palate, Short thumb, Thick ... |
OMIM:613406 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Abnormal pulmonary valve morphology, Anteriorly placed anus, Wide mouth, A... |
ORPHA:857 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Widely spaced t... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Short philtrum,... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Short philtrum,... |
ORPHA:261552 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Ventricular septal defect, Micrognathia, Splenomegaly, Supernumerary tooth, Tetralo... |
OMIM:619525 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasi... |
OMIM:620330 |
Yunis-Varon Syndrome |
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Micrognathia, Short metatarsal, Short philtrum, High palate, Absent hallux, Patent foramen ovale,... |
OMIM:216340 |
Xeroderma Pigmentosum, Complementation Group B |
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Microphthalmia |
OMIM:610651 |
Papillorenal Syndrome |
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Microphthalmia |
OMIM:120330 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Absent septum pellucidum, Abnormality of the en... |
ORPHA:438213 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia |
OMIM:278730 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
Alström Syndrome |
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Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... |
ORPHA:64 |
Beckwith-Wiedemann Syndrome |
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Mandibular prognathia, Hepatomegaly, Cardiomegaly, Splenomegaly, Cleft palate, Wide mouth, Macrog... |
ORPHA:116 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Ventricular septal defect, Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Volvulus |
OMIM:616682 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Carious teeth, Bilateral microphthalmos, Calvarial osteosclerosis, Persistence of primary teeth |
ORPHA:93325 |
Pierson Syndrome |
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Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Vater/Vacterl Association |
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Ventricular septal defect, Absent radius, Esophageal atresia, Short thumb, Hypoplasia of the radi... |
OMIM:192350 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, High, narrow palate, ... |
OMIM:619475 |
Abetalipoproteinemia |
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Hepatomegaly, Fat malabsorption, Steatorrhea, Cardiomegaly |
ORPHA:14 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Anal stenosis, Ventricular septal defect, Micrognathia, Malrotation of... |
OMIM:606170 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Ventricular septal defect, Carious teeth, Short thumb, Downturned corners of mouth, Short foot, H... |
OMIM:619522 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Hypoplastic scapulae, Cardiomegaly, Splenomegaly, Thick lower lip vermilion, Macrog... |
OMIM:256040 |
Proteus Syndrome |
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Decreased muscle mass, Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Sple... |
ORPHA:744 |
Williams-Beuren Syndrome |
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Colonic diverticula, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Rectal pro... |
OMIM:194050 |
Linear Nevus Sebaceus Syndrome |
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Microphthalmia |
ORPHA:2612 |
Eisenmenger Syndrome |
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Hepatomegaly, Ventricular septal defect, Hypochromic microcytic anemia, Aortopulmonary window, Ab... |
ORPHA:97214 |
Pallister-Killian Syndrome |
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Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Short palm, Atrial septal defec... |
OMIM:601803 |
Penile Agenesis |
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Ventricular septal defect, Rectal fistula, Tracheoesophageal fistula, Atrial septal defect, Anal ... |
ORPHA:49 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Johanson-Blizzard Syndrome |
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Colonic diverticula, Hepatomegaly, Ventricular septal defect, Malabsorption, Situs inversus total... |
OMIM:243800 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia |
OMIM:127000 |
Aicardi-Goutières Syndrome |
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Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Norrie Disease |
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Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Thin vermilion border, Microphthalmia, Ma... |
ORPHA:649 |
Sotos Syndrome |
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Hip contracture, Cerebellar vermis hypoplasia, Ventricular septal defect, Ankle flexion contractu... |
ORPHA:821 |
Generalized Arterial Calcification Of Infancy |
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Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Autosomal Recessive Primary Microcephaly |
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Abnormal cortical bone morphology |
ORPHA:2512 |
Neurodevelopmental Disorder With Microcephaly, Short Stature, And Speech Delay |
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Microcephaly |
OMIM:620027 |