Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Colitis |
ORPHA:88643 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Abnormal esophagus physiology, Gastroesophageal reflux, Hepatomegaly, Dysphagia, Gastrointestinal... |
ORPHA:2198 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic card... |
OMIM:620135 |
Attrv122I Amyloidosis |
|
Left ventricular hypertrophy, Cardiac amyloidosis, Abnormal autonomic nervous system physiology, ... |
ORPHA:85451 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly, Abnormal autonomic nervous system physiology |
ORPHA:85447 |
Congenital Myopathy 8 |
|
Cardiomegaly, High palate |
OMIM:618654 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
Visceral Myopathy 2 |
|
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Hiatus hernia, Volvulus, Intestina... |
OMIM:619350 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
Hemochromatosis, Type 1 |
|
Hepatocellular carcinoma, Testicular atrophy, Cardiomyopathy, Hepatomegaly, Splenomegaly, Azoospe... |
OMIM:235200 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, High palate |
OMIM:269920 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Patent foramen ovale, ... |
OMIM:618652 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular dysgenesis, Hypoplasi... |
ORPHA:168563 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... |
ORPHA:860 |
Mulibrey Nanism |
|
Hepatomegaly, Microglossia, Pericardial constriction, Myocardial fibrosis, Cardiomegaly |
OMIM:253250 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Exaggerated rugosity of the l... |
OMIM:612965 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy |
OMIM:614702 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis |
ORPHA:615 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... |
ORPHA:755 |
Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Ambiguous genitalia, Atrial septal defect, Tetralogy of Fallot, Ventricul... |
OMIM:618280 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Gastroesophageal reflux |
ORPHA:3137 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Urogenital sinus anomaly, Abnormal internal geni... |
OMIM:273250 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Ventricular hypertrophy, H... |
OMIM:300280 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Aortic valve stenosis, Macroorchidism, Mitral valve prolapse, Cardiomegaly, Ab... |
ORPHA:324410 |
Fixed Subaortic Stenosis |
|
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... |
ORPHA:3092 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Necrotizing ent... |
OMIM:201475 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Hsd10 Disease, Infantile Type |
|
Optic atrophy, Dysphagia, Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Cardiomegaly |
ORPHA:391428 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right atrial... |
ORPHA:555874 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
Lumbar Syndrome |
|
Anal atresia, Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid ut... |
ORPHA:83628 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Femal... |
ORPHA:99429 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Ventricular septal defect, Atriove... |
OMIM:306955 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defe... |
OMIM:115197 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular hypertrophy |
OMIM:619051 |
Partial Androgen Insensitivity Syndrome |
|
Perineal hypospadias, Micropenis, Ambiguous genitalia, Fused labia majora, Clitoral hypertrophy, ... |
ORPHA:90797 |
Craniofaciofrontodigital Syndrome |
|
Macroglossia, Gastroesophageal reflux, Pyloric stenosis, Atrial septal defect, Ventricular septal... |
ORPHA:363705 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Steatorrhea, Villous atrophy, Abnormal large intestinal mucosa morph... |
ORPHA:92050 |
Diethylstilbestrol Syndrome |
|
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Testicular dys... |
ORPHA:1916 |
Neuraminidase Deficiency |
|
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:256550 |
Mogs-Cdg |
|
Hepatosplenomegaly, High palate, External genital hypoplasia, Left ventricular hypertrophy, Atria... |
ORPHA:79330 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Ventricular septal defect, Cleft palate, Hypertrophic cardiomyopathy, Cardiomegaly, H... |
OMIM:616897 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... |
ORPHA:2041 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:252920 |
Timothy Syndrome |
|
Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anal atresia, Anteriorly placed anus, Micropenis, Atrial septal defect, Ventricular septal defect... |
OMIM:309801 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatocellular carcinoma, Testicular atrophy, Cardiomyopathy, Hepatomegaly, Cholangiocarcinoma, S... |
ORPHA:465508 |
46,Xy Sex Reversal 7 |
|
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... |
OMIM:233420 |
Oeis Complex |
|
Duplicated colon, Anal atresia, Cryptorchidism, Anteriorly placed anus, Absent scrotum, Micropeni... |
OMIM:258040 |
Isolated Right Ventricular Hypoplasia |
|
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Fg Syndrome Type 1 |
|
Anal atresia, Malrotation of colon, High palate, Gastroesophageal reflux, Pyloric stenosis, Atria... |
ORPHA:93932 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, High palate, Ventricular septal defect |
OMIM:618798 |
Scleroderma |
|
Myocarditis, Interstitial cardiac fibrosis, Pericarditis, Gastroesophageal reflux, Abnormality of... |
ORPHA:801 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Dysphagia, Brachial plexus neuropathy, Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Townes-Brocks Syndrome 2 |
|
Anal atresia, Rectovaginal fistula, Bifid uterus, Hypospadias |
OMIM:617466 |
Testicular Agenesis |
|
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... |
ORPHA:325124 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Sandhoff Disease |
|
Macroglossia, Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... |
ORPHA:1457 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... |
OMIM:278850 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... |
OMIM:231005 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventricular hypertrophy |
OMIM:617713 |
Lethal Congenital Contracture Syndrome 10 |
|
Macroglossia, High palate, Ventricular septal defect, Overriding aorta, Narrow palate, Cardiomegaly |
OMIM:617022 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly |
ORPHA:99931 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormal heart morphology, Cleft palate, Septate vagina, Vaginal atresia, Uterus didelphys, Aplas... |
ORPHA:2237 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly, Abnormal autonomic nervous system physiology, Orthostatic hypotensi... |
OMIM:105210 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Macroglossia, High palate, Cryptorchidism, Ventricular septal defect, Hepatomegaly, Cardiomegaly,... |
ORPHA:96191 |
Congenital Tracheomalacia |
|
Esophageal atresia, Gastroesophageal reflux, Atrial septal defect, Tetralogy of Fallot, Ventricul... |
ORPHA:95430 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Systemic Sclerosis |
|
Myocarditis, Interstitial cardiac fibrosis, Abnormality of the gastrointestinal tract, Gastroesop... |
ORPHA:90291 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly, Optic atrophy |
OMIM:619259 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Bifid uvula, Cleft palate |
ORPHA:2736 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Aplasia of the uterus, Hydrocele testis |
OMIM:266810 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetralogy of Fallot |
ORPHA:3320 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... |
ORPHA:57777 |
Complete Atrioventricular Septal Defect |
|
Abnormal cardiac atrium morphology, Primum atrial septal defect, Hepatomegaly, Complete atriovent... |
ORPHA:1329 |
Congenital Disorder Of Glycosylation, Type It |
|
Bifid uvula, Ventricular septal defect, Hepatomegaly, Cleft palate, Dilated cardiomyopathy, Cardi... |
OMIM:614921 |
Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial fibrosis, Ca... |
OMIM:300257 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Enlarged kidney, Hepatomegaly, Narrow palate, Dilated cardiomyopathy, Cardiomegaly |
OMIM:608836 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Micropenis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defec... |
OMIM:602782 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Enlarged kidney, Increased myocardial glycogen content, Cardiomyopathy, Biventricul... |
OMIM:261740 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Dysphagia, Cardiomegaly, Splenomegaly |
OMIM:608013 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Pseudopapilledema, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Micropenis, Ambiguous genitalia, male, Precocious puberty in females, Female external genitalia i... |
ORPHA:90793 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly, Cleft palate |
ORPHA:158687 |
Mucopolysaccharidosis Type 3 |
|
Macroglossia, Malabsorption, Abnormal mitral valve morphology, Hepatomegaly, Optic atrophy, Dysph... |
ORPHA:581 |
Developmental And Epileptic Encephalopathy 95 |
|
Macroglossia, Cardiomegaly, Cryptorchidism, Hepatomegaly |
OMIM:618143 |
Beckwith-Wiedemann Syndrome |
|
Macroglossia, Cryptorchidism, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepatomegaly, Hepa... |
OMIM:130650 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Left ventricular hypertrophy, Atrial septal defect, Cleft palate, Bicuspid aortic valve, Patent f... |
OMIM:245600 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... |
OMIM:601214 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Ambiguous genitalia, ... |
ORPHA:168558 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Fucosidosis |
|
Macroglossia, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:230000 |
Exstrophy-Epispadias Complex |
|
Anal atresia, Abnormality of the gastrointestinal tract, Cryptorchidism, Bifid penis, Penoscrotal... |
ORPHA:322 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Ambiguous genitalia, ... |
ORPHA:289548 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Hepatomegaly, High, narrow palate, Abnormal myocardium morphology, Cardiomegaly |
ORPHA:228308 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Polycystic ovaries, Hepatomegaly, Optic atrophy, Cleft palate, Cardiom... |
ORPHA:137675 |
Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Gastroesophageal reflux, Cryptorchidism, Atrial se... |
OMIM:300967 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Bicuspid aortic v... |
OMIM:620066 |
Okamoto Syndrome |
|
Gastroesophageal reflux, Abnormal left ventricle morphology, Ventricular septal defect, Abnormal ... |
ORPHA:2729 |
Phocomelia, Schinzel Type |
|
Anal atresia, Cryptorchidism, High, narrow palate, Cleft palate, Hypoplasia of penis, Tracheoesop... |
ORPHA:2879 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Anal atresia, Aplasia of the vagina, Absent external genitalia, Aplasia of the uterus |
OMIM:271520 |
Glycogen Storage Disease Ii |
|
Macroglossia, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:232300 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, High palate |
ORPHA:2463 |
Popliteal Pterygium Syndrome |
|
Cryptorchidism, Bifid uvula, Hypoplasia of the uterus, Cleft palate, Hypoplastic labia majora, Sm... |
OMIM:119500 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Anal atresia, Micropenis, Cleft palate, Tracheoesophageal fistula, Aplasia of... |
OMIM:614083 |
Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
Pontocerebellar Hypoplasia Type 7 |
|
High palate, Cryptorchidism, Micropenis, Ambiguous genitalia, Microphallus, Clitoral hypertrophy,... |
ORPHA:284339 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Uterine neoplasm, Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, In... |
ORPHA:109 |
Abetalipoproteinemia |
|
Steatorrhea, Cardiomegaly, Hepatomegaly, Fat malabsorption |
ORPHA:14 |
Meckel Syndrome 14 |
|
Single ventricle, Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Ogden Syndrome |
|
Secundum atrial septal defect, High palate, Cryptorchidism, Decreased testicular size, Left atria... |
OMIM:300855 |
Absence Of The Pulmonary Artery |
|
Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... |
ORPHA:980 |
Truncus Arteriosus |
|
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal... |
ORPHA:3384 |
Townes-Brocks Syndrome 1 |
|
Rectoperineal fistula, Anal atresia, Gastroesophageal reflux, Cryptorchidism, Duodenal atresia, A... |
OMIM:107480 |
Yunis-Varon Syndrome |
|
Cryptorchidism, Micropenis, Pyloric stenosis, Ventricular septal defect, Atrial septal defect, Te... |
ORPHA:3472 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Ven... |
OMIM:274000 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly, Optic atrophy, Cleft palate |
ORPHA:97297 |
Mucolipidosis Ii Alpha/Beta |
|
Macroglossia, Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Splenomegaly |
OMIM:252500 |
Williams Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Malabsorption, Hypertrophic... |
ORPHA:904 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, High, narrow palate |
ORPHA:91387 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Macroglossia, Left ventricular hypertrophy, Hepatomegaly, Dysphagia, Hypertrophic cardiomyopathy,... |
ORPHA:365 |
Beckwith-Wiedemann Syndrome |
|
Macroglossia, Cryptorchidism, Enlarged kidney, Gonadoblastoma, Hepatomegaly, Hepatoblastoma, Clef... |
ORPHA:116 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Ventricular hypertrophy |
OMIM:618278 |
Coffin-Siris Syndrome 1 |
|
Gastric ulcer, High palate, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Tetr... |
OMIM:135900 |
Liver Disease, Severe Congenital |
|
Left atrial enlargement, Atrial septal defect, Ventricular septal defect, Protein-losing enteropa... |
OMIM:619991 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Decreased testicular size, Ambiguous genitalia, Fused labia majora... |
ORPHA:90794 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... |
ORPHA:99125 |
Chromosome 17Q12 Deletion Syndrome |
|
High palate, Cryptorchidism, Ovarian cyst, Unicornuate uterus, Aplasia of the vagina, Aplasia of ... |
OMIM:614527 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
High palate, Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Limb-Mammary Syndrome |
|
Bifid uvula, Cleft hard palate, Cleft palate, Submucous cleft soft palate, Aplasia of the ovary, ... |
ORPHA:69085 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy |
ORPHA:51 |
Wolf-Hirschhorn Syndrome |
|
Gastroesophageal reflux, Cryptorchidism, Precocious puberty, Atrial septal defect, Ventricular se... |
OMIM:194190 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Macroglossia, Hepatomegaly, Parotitis, Cardiomegaly, Splenomegaly, Epididymitis |
OMIM:256040 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... |
ORPHA:75565 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Cleft palate, Bifid uterus, Ab... |
OMIM:236680 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Ventricular septal defect, Cleft palate, Bifid uterus, Patent foramen ovale, Tran... |
OMIM:256520 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cervical insufficiency, Uterine rupture, Cystocele, Mitral valve prolapse, Uterin... |
OMIM:130050 |
Vascular Ehlers-Danlos Syndrome |
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Cryptorchidism, Abnormal intestine morphology, Gastrointestinal infarctions, Abnormal heart valve... |
ORPHA:286 |
Pallister-Killian Syndrome |
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Macroglossia, Anal atresia, Cryptorchidism, Anteriorly placed anus, Bifid uvula, Atrial septal de... |
OMIM:601803 |
Loeys-Dietz Syndrome |
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High palate, Bifid uvula, Uterine rupture |
ORPHA:60030 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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High palate, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, Small scrotum, Hyposp... |
OMIM:276820 |
Singleton-Merten Syndrome 1 |
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Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aor... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
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Cardiomegaly, Pericardial effusion, Myocardial calcification, Ventricular hypertrophy |
ORPHA:51608 |
Norrie Disease |
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Optic atrophy, Cryptorchidism, Uterine rupture |
ORPHA:649 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Peptic ulcer |
OMIM:600740 |