Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition, Bilateral single transverse palmar creases, Clinodac... |
ORPHA:1094 |
Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Short lower limbs, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis mor... |
ORPHA:2501 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Cardiomegaly, Enamel hypoplasia, Syndactyly, Thin upper lip vermilion |
OMIM:613576 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... |
OMIM:204700 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Small epiphyses, Discolored lateral incisors, Oligodontia, Tapered finger, Me... |
OMIM:601668 |
Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... |
ORPHA:49042 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia |
OMIM:617297 |
Pycnodysostosis |
|
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Abnormality of pelv... |
OMIM:265800 |
Dentin Dysplasia, Type I |
|
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... |
OMIM:125400 |
Pyle Disease |
|
Carious teeth, Metaphyseal dysplasia, Hypoplastic frontal sinuses, Mandibular prognathia, Metaphy... |
OMIM:265900 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta |
OMIM:615887 |
Lethal Congenital Contracture Syndrome 10 |
|
Micrognathia, High palate, Ventricular septal defect, Adducted thumb, Talipes equinovarus, Long p... |
OMIM:617022 |
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Carious teeth, Micrognathia, Smooth philtrum, Midline notch of upper alveolar ridge, Malar flatte... |
OMIM:129540 |
Mulibrey Nanism |
|
Hepatomegaly, Hypodontia, Pericardial constriction, Hypoplastic frontal sinuses, Thickened cortex... |
OMIM:253250 |
Rubinstein-Taybi Syndrome 2 |
|
Carious teeth, Micrognathia, High palate, Narrow palate, Increased overbite, Syndactyly, Broad ha... |
OMIM:613684 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, High palate, Vacuolated lymphocytes, Metaphyseal irregularity, Gingival overgrowth,... |
OMIM:269920 |
Cantu Syndrome |
|
Thick lower lip vermilion, Bicuspid aortic valve, Pericardial effusion, Long philtrum, Metaphysea... |
OMIM:239850 |
Timothy Syndrome |
|
Ventricular septal defect, Microdontia, Cardiomegaly, Syndactyly, Tetralogy of Fallot, Thin upper... |
OMIM:601005 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Pulp calcification, Taurodontia, Microdontia |
OMIM:313490 |
Eem Syndrome |
|
Carious teeth, Widely spaced teeth, Microdontia, Finger syndactyly, Selective tooth agenesis, Abn... |
ORPHA:1897 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia, Jaundice |
ORPHA:858 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Pancreatic hypoplasia, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Camptoda... |
OMIM:602782 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Smooth philtrum, Cardiomegaly, Downturned corners of mouth, Bilateral ... |
OMIM:618652 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Smooth philtrum, Mitral valve prolapse, Mandibular prognathia, Cardiomegaly, Abno... |
ORPHA:324410 |
Otodental Syndrome |
|
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... |
ORPHA:2791 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Widely spaced teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sa... |
OMIM:617102 |
Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... |
OMIM:616221 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Short middle phalanx of finger, Pulp c... |
OMIM:606895 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
High palate, Cardiomegaly |
OMIM:618654 |
Neuraminidase Deficiency |
|
Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly,... |
OMIM:256550 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Thrombocytopenia, Mandibular prognathia, Anemia, Diaphyseal sclerosis, Genu valgum... |
OMIM:259710 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia |
ORPHA:563609 |
Oslam Syndrome |
|
Carious teeth, Increased mean corpuscular volume, Clinodactyly of the 5th finger, Abnormality of ... |
ORPHA:2760 |
Lethal Acantholytic Erosive Disorder |
|
Cleft palate, 3-4 finger syndactyly, 2-3 finger syndactyly, Cardiomegaly, Cardiomyopathy, 4-5 fin... |
ORPHA:158687 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Genu varum, Genu valgum, Pulmonic stenosis, Coxa valga, Hypoplasia of teeth |
OMIM:613312 |
Orofaciodigital Syndrome Type 2 |
|
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... |
ORPHA:2751 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Agenesis of canine, Absent cupid's bow, Abnormality of the philt... |
ORPHA:2919 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... |
OMIM:204650 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Cholestasis, Pulmonic valve myxoma, Jaundice |
ORPHA:615 |
Amelogenesis Imperfecta, Type Iiic |
|
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... |
OMIM:618386 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Carious teeth, Micrognathia, High palate, Adducted thumb, Talipes equinovarus, Long philtrum, Tap... |
OMIM:272430 |
Greenberg Dysplasia |
|
Epiphyseal stippling, Malar flattening, Hepatosplenomegaly, Abnormal ossification involving the f... |
OMIM:215140 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... |
ORPHA:1452 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Micrognathia, Broad long bones, Long philtrum... |
OMIM:257850 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Smooth philtrum, Abnormal heart morphology, Velopharyngeal insufficiency, Thick up... |
ORPHA:363444 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Metaphyseal cupping, Cardiomegaly, Deep philtrum, Iliac crest serration, Hypoplastic ischia, Shor... |
OMIM:613320 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Hypertrophic cardiomyopathy, Broad hallux phalanx, Wide mouth, Long philtrum, Cardiomegaly, Abnor... |
ORPHA:1517 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy, Splenom... |
OMIM:235200 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hallux valgus, Bicuspid aortic valve, Cleft palate, Talipes equinovarus, Spatulate thumbs, Broad ... |
OMIM:245600 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... |
ORPHA:1028 |
Mucopolysaccharidosis, Type Iva |
|
Carious teeth, Widely spaced teeth, Epiphyseal deformities of tubular bones, Hepatomegaly, Wide m... |
OMIM:253000 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Micrognathia, Cleft palate, Ventricular septal defect, Adducted thum... |
OMIM:616897 |
Distal Trisomy 5Q |
|
Carious teeth, Dextrocardia, Micrognathia, Ventricular septal defect, Long philtrum, Aplasia/Hypo... |
ORPHA:96097 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104510 |
Pycnodysostosis |
|
Carious teeth, Obtuse angle of mandible, Hepatosplenomegaly, Hypoplasia of the maxilla, Micrognat... |
ORPHA:763 |
Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Long philtrum, Abnormal heart morphology, Cubitus valgus, Cardiomegaly, ... |
OMIM:114620 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Hepatomegaly, Endocardial fibroe... |
OMIM:212140 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252920 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... |
OMIM:306955 |
Craniometadiaphyseal Dysplasia |
|
Carious teeth, High palate, Genu varum, Microdontia, Broad long bones, Mandibular prognathia, Cub... |
OMIM:269300 |
Acrocallosal Syndrome |
|
Smooth philtrum, Cleft palate, Finger syndactyly, Microretrognathia, Triangular mouth, Toe syndac... |
OMIM:200990 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... |
ORPHA:860 |
Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Talipes equinovarus, Long philtrum, Macroglossia, Prog... |
OMIM:252500 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
High palate, Malar flattening, Arachnodactyly, Cardiomegaly, Increased arm span, Thin metatarsal ... |
ORPHA:2463 |
Orofaciodigital Syndrome I |
|
Carious teeth, Cleft palate, Syndactyly, Microretrognathia, Agenesis of permanent teeth, High pal... |
OMIM:311200 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Interphalangeal joint contracture of finger, Premature loss of teeth, Supernumerar... |
ORPHA:69087 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Abnormal palate morphology, Smooth philtrum, Hypoplasia of the zygomatic bone, Sma... |
ORPHA:1786 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth, Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, A... |
OMIM:612714 |
Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... |
OMIM:603903 |
Fucosidosis |
|
Thick lower lip vermilion, Hepatomegaly, Macroglossia, Vacuolated lymphocytes, Absent/hypoplastic... |
OMIM:230000 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Open bite, Mandibular prognathia, Polycystic ovaries, Splenomegaly, Abnormali... |
ORPHA:2969 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
Developmental And Epileptic Encephalopathy 95 |
|
Widely spaced teeth, Hepatomegaly, Macroglossia, Gingival overgrowth, Cardiomegaly, Deep philtrum... |
OMIM:618143 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Anemia, Cardiomegal... |
ORPHA:85451 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Singleton-Merten Syndrome 1 |
|
Carious teeth, Smooth philtrum, Talipes equinovarus, Mitral valve calcification, Hypoplasia of th... |
OMIM:182250 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, High palate, Tapered finger, Lipid a... |
OMIM:608836 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis |
OMIM:600649 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Cardiomegaly, Car... |
ORPHA:465508 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... |
OMIM:115197 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Palmoplantar cutis laxa, Pericardial effusion, ... |
ORPHA:363705 |
Yunis-Varon Syndrome |
|
Short middle phalanx of finger, Syndactyly, Broad secondary alveolar ridge, Short toe, Abnormal p... |
ORPHA:3472 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Micrognathia, Everted upper lip vermilion, Anemia, Cardiomegaly, Splenomegaly, Hepa... |
OMIM:608013 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Micrognathia, Thymus hyperplasia, Arachnodactyly, Talipes equinovarus |
OMIM:619036 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Thick vermilion border |
ORPHA:3137 |
Mogs-Cdg |
|
Hepatomegaly, High palate, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Overla... |
ORPHA:79330 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, High palate, Long philtrum, Cardiomegaly, Hip dysplasia, Open mouth |
OMIM:618798 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Malar flattening, Submucous cleft soft palate, Ventricular septal defect, Drooling... |
OMIM:300967 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... |
ORPHA:3092 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Clubbing, Right atrial enlargement, Atrial septal defect, Muscular ventricular sept... |
ORPHA:439 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... |
OMIM:300257 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
Glycogen Storage Disease Ii |
|
Macroglossia, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Shwachman-Diamond Syndrome |
|
Carious teeth, Sinusitis, Neutropenia, Pancreatic hypoplasia, Leukemia, Metaphyseal irregularity,... |
ORPHA:811 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Micrognathia, Cleft palate, Ventricular septal defect, Pier... |
OMIM:614921 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly, Hepatic steatosis |
OMIM:255120 |
Camurati-Engelmann Disease |
|
Carious teeth, Cortical thickening of long bone diaphyses, Abnormality of the ulna, Metaphyseal d... |
ORPHA:1328 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Hepatic steatos... |
OMIM:201475 |
Corneodermatoosseous Syndrome |
|
Carious teeth, Palmoplantar keratoderma, Abnormal dental enamel morphology, Abnormality of finger... |
ORPHA:3194 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
Eec Syndrome |
|
Carious teeth, Toe syndactyly, Cleft palate, Microdontia, Xerostomia, Aplasia/Hypoplasia of the t... |
ORPHA:1896 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemoly... |
OMIM:618278 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Fucosidosis |
|
Abnormality of the dentition, Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder |
ORPHA:349 |
Sandhoff Disease |
|
Macroglossia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
Bohring-Opitz Syndrome |
|
Micrognathia, Cleft palate, Bilateral wrist flexion contracture, Annular pancreas, Prominent pala... |
ORPHA:97297 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Thick lower lip vermilion, Hallux valgus, Hepatomegaly, Flexion contracture of toe, Hypoplastic s... |
OMIM:256040 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Micrognathia, High palate, Ventricular septal defect, Macroglossia, Gingival overgr... |
ORPHA:96191 |
Truncus Arteriosus |
|
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... |
ORPHA:3384 |
Aorta Coarctation |
|
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
Proteus Syndrome |
|
Carious teeth, Hallux valgus, Ovarian neoplasm, Sirenomelia, Thymus hyperplasia, Neoplasm of the ... |
ORPHA:744 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Abnormal mitral valve morphology, Macroglossia, Abnormal aortic valve morphology, A... |
ORPHA:581 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy |
OMIM:261740 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly, Proximal muscle weakness in upper limbs, Scapular wi... |
ORPHA:268 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Cirrhosis, Rig... |
ORPHA:57777 |
Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... |
ORPHA:1329 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Cardiomegaly, Left ventricular hypertrop... |
ORPHA:308552 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
High, narrow palate, Hepatic calcification, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Hepatic s... |
ORPHA:228308 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content |
OMIM:619259 |
Lacrimoauriculodentodigital Syndrome |
|
Carious teeth, Radial deviation of the 3rd finger, Hypoplasia of the radius, Broad hallux, 2-3 fi... |
OMIM:149730 |
Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Palmoplantar keratod... |
OMIM:601214 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Bicuspid aortic valve, Cardiomegaly, Arachnodactyly, Retrognathia |
ORPHA:91387 |
Williams Syndrome |
|
Carious teeth, Hallux valgus, Bicuspid aortic valve, Abnormal dental enamel morphology, Overridin... |
ORPHA:904 |
Abetalipoproteinemia |
|
Hepatomegaly, Hepatic fibrosis, Talipes equinovarus, Acanthocytosis, Cardiomegaly, Anemia, Cirrho... |
ORPHA:14 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cleft palate, Wide mouth, Macroglossia, Mandibular pro... |
ORPHA:116 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Cardiomegaly, Thick vermilion border, Lip telangiectasia |
ORPHA:79280 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Cardiomyopathy, Hepatoblastoma, Pancreatic hyperplasia,... |
OMIM:130650 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... |
ORPHA:1677 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cleft palate, Polycystic ovaries, Cardiomegaly |
ORPHA:137675 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... |
ORPHA:980 |
Enamel-Renal Syndrome |
|
Gingival overgrowth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Delayed eruption... |
ORPHA:1031 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Impaired mastication, Cardiomegaly, Left... |
ORPHA:365 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... |
ORPHA:75565 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Chronic lymphatic leukemia, Cardiomegaly, Hepatosplenomegaly, Neonat... |
ORPHA:51 |
Congenital Tracheomalacia |
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Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... |
ORPHA:95430 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... |
ORPHA:99125 |
Generalized Arterial Calcification Of Infancy |
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Abnormal calcification of the carpal bones, Stippled calcification of the shoulder, Stippled calc... |
ORPHA:51608 |