| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
| Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... |
OMIM:618117 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:617690 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... |
OMIM:612965 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... |
OMIM:614842 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity, Hypoalbuminemia |
ORPHA:88643 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Delayed puberty, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:619203 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k... |
OMIM:600649 |
| Seckel Syndrome 7 |
|
Severe short stature, Intrauterine growth retardation, Hypoplasia of the uterus, Central hypothyr... |
OMIM:614851 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circulating osteocalci... |
OMIM:615363 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Cryptorchidism, Polycystic ovaries, Male pseudohe... |
ORPHA:90796 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Recurrent hypog... |
OMIM:212140 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Long eyelashes, Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hep... |
OMIM:619064 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Alopecia, Cardiomyopathy, Increased circulating ferriti... |
OMIM:235200 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Nephrogenic diabete... |
ORPHA:3130 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyper... |
OMIM:614702 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Short s... |
ORPHA:247768 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, ... |
OMIM:606069 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Hypoplasia of the ovary, Increased circulating gonadotropin level, Hyp... |
OMIM:615300 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... |
ORPHA:432 |
| Leydig Cell Hypoplasia |
|
Male hypogonadism, Hypoplasia of the Leydig cells, Absence of secondary sex characteristics, Abno... |
ORPHA:755 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Enla... |
ORPHA:785 |
| Amed Syndrome, Digenic |
|
Short stature, Hypoplasia of the uterus, Adrenal hypoplasia |
OMIM:619151 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Intrauterine growth retardation, Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... |
ORPHA:90797 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... |
ORPHA:90793 |
| Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Fair hair, Splenomegaly, Cardiomegaly, Hepatomegaly, Conjugated hyperbilirubin... |
OMIM:269920 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Small for gestational age, Failure to thrive, Biventricular hypertrophy, Dextrotransposition of t... |
ORPHA:860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia |
OMIM:619170 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Thick eyebrow, Elevated cir... |
OMIM:300280 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Sparse hair |
OMIM:613576 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive |
OMIM:614096 |
| Meckel Syndrome 12 |
|
Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus |
OMIM:616258 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Cardiomyopathy |
ORPHA:85447 |
| Mody |
|
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Obesity, Glucose intolerance, Lar... |
ORPHA:552 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, C... |
ORPHA:42 |
| Satoyoshi Syndrome |
|
Short stature, Hypoplasia of the uterus |
OMIM:600705 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... |
ORPHA:3464 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Delayed p... |
OMIM:615866 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Hyperammo... |
OMIM:620609 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Aplasia of th... |
OMIM:158330 |
| Hydatidiform Mole |
|
Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Hyperammonemia, Eleva... |
OMIM:201475 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... |
OMIM:154230 |
| Mucopolysaccharidosis, Type Iiib |
|
Coarse hair, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomegaly, Asymmetric septal hypertrophy, ... |
OMIM:252920 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Car... |
OMIM:255120 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
| Timothy Syndrome |
|
Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect,... |
OMIM:601005 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Intrauterine growth retardation, Cryptorchidism, Neonatal death, Short stat... |
OMIM:601186 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Disproportionate short-limb short stature, Elevat... |
OMIM:609441 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia |
OMIM:619051 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Large for gestational age, Long eyelashes, Curly eyelas... |
OMIM:239850 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Car... |
ORPHA:555874 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... |
ORPHA:57777 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Increased circulating ferritin concentration, Hyperglycemia, Splenomegaly, Cardio... |
ORPHA:465508 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Spina bifida occulta, Hyp... |
OMIM:119500 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia, Hypoglycemia |
ORPHA:391428 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... |
OMIM:617713 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... |
OMIM:201750 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic labia majora, Ele... |
OMIM:618419 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine ... |
OMIM:608836 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Hypertrichosis, Abnormal heart valve morphology, Large for gestational age... |
ORPHA:363705 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hypoketotic hypoglycemia, Decre... |
ORPHA:228308 |
| Renal And Mullerian Duct Hypoplasia |
|
Severe postnatal growth retardation, Anteriorly displaced urethral meatus, Hydrocele testis, Apla... |
OMIM:266810 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:266500 |
| Naxos Disease |
|
Sparse eyebrow, Dilated cardiomyopathy, Sparse body hair, Abnormal heart morphology, Right ventri... |
OMIM:601214 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal circulating dehydroepiandrosterone concentra... |
ORPHA:90794 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Short stature, Hypoplasia of the uterus, Hy... |
OMIM:309801 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Failure to thrive |
ORPHA:99931 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... |
OMIM:300257 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Small for gestational age, Ventricular septal defect |
OMIM:616897 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Long eyelashes, Thick eyebrow, Curl... |
ORPHA:1517 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentratio... |
ORPHA:308552 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus |
OMIM:110100 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets |
OMIM:614473 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration |
OMIM:618886 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Elevated circulati... |
OMIM:614921 |
| Lumbar Syndrome |
|
Bifid scrotum, Myelomeningocele, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, M... |
ORPHA:83628 |
| Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Atretic vas deferens, Epididymal cyst, Hypoplasia of the ut... |
OMIM:137920 |
| Mogs-Cdg |
|
Alopecia, Fair hair, Hepatosplenomegaly, Long eyelashes, Hirsutism, Cardiomegaly, Left ventricula... |
ORPHA:79330 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Absent hair, Congenital alopecia totalis, Cardiomegaly, Absent eyelashes, Absent ... |
ORPHA:158687 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Small for gestational age |
OMIM:613320 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased circula... |
OMIM:232300 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Double Outlet Left Ventricle |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary v... |
ORPHA:3427 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Failure to thrive, Abnormal c... |
ORPHA:1329 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin conce... |
OMIM:620306 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Hepatosplenomegaly, Alopecia of scalp, Splenomegaly, Mitral valve prola... |
OMIM:602782 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Failure to thrive |
ORPHA:349 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration |
ORPHA:268 |
| Peters Plus Syndrome |
|
Rhizomelia, Disproportionate short-limb short stature, Umbilical hernia, Postnatal growth retarda... |
ORPHA:709 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Hirsutism, Cardiomegaly, Low posterior hairline, Synophrys |
ORPHA:2463 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Severe postnatal gr... |
ORPHA:2237 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Thick eyebrow, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, ... |
OMIM:245600 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin... |
ORPHA:14 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Sparse eyebrow, Failure to thrive, Hypertrophic cardiomyopat... |
OMIM:252500 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Hepatomegaly |
OMIM:608013 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Peters-Plus Syndrome |
|
Rhizomelia, Disproportionate short-limb short stature, Umbilical hernia, Postnatal growth retarda... |
OMIM:261540 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets |
OMIM:208000 |
| Mucopolysaccharidosis Type 3 |
|
Coarse hair, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Ca... |
ORPHA:581 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Hypoparathyroidism |
OMIM:146255 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Fucosidosis |
|
Failure to thrive, Thick eyebrow, Splenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:230000 |
| Liver Disease, Severe Congenital |
|
Dry hair, Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, At... |
OMIM:619991 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Highly arched eyebrow, Cardiomegaly |
OMIM:618143 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Failure to thrive, Decreased HDL cholesterol concentration, Premature graying of hair, Hypertrich... |
OMIM:256040 |
| Congenital Tracheomalacia |
|
Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Car... |
ORPHA:95430 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
| Ogden Syndrome |
|
Sparse eyebrow, Secundum atrial septal defect, Fine hair, Long eyelashes, Hyperbilirubinemia, Pat... |
OMIM:300855 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Uncon... |
OMIM:618278 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Hepatomegaly |
ORPHA:137675 |
| Oeis Complex |
|
Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitali... |
OMIM:258040 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentratio... |
ORPHA:365 |
| Phocomelia, Schinzel Type |
|
Disproportionate short stature, Intrauterine growth retardation, Cryptorchidism, Aplasia of the u... |
ORPHA:2879 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Ventricular septal defect |
ORPHA:96191 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Highly arched eyebrow, Long eyelashes, Patent foramen ovale, Decreased body weight, Cardiomegaly,... |
OMIM:620371 |
| Bohring-Opitz Syndrome |
|
Hypertrichosis, Cardiomegaly, Severe failure to thrive, Abnormal cardiac septum morphology, Synop... |
ORPHA:97297 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Failure to thrive, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Elevated circulating C-reactiv... |
OMIM:620376 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Slender build, Left ventricular noncompaction cardiomyopathy, Pat... |
OMIM:300967 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Hypoglycemia, Hypertrophic cardiomyopathy, Obesity, Large for gestational age, Spl... |
ORPHA:116 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Neonatal hypoglycemia, Enlarg... |
OMIM:130650 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus, Intrauterine growth retardation, Growth delay |
OMIM:614083 |
| Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia, Occipital encephalocele |
OMIM:619879 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Intrauterine growth retardation, Anencephaly, Adrenal gland dysgenesi... |
OMIM:236680 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Diabetes mellitus |
ORPHA:51 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Failu... |
ORPHA:904 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Cryptorch... |
OMIM:256520 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Short stature, Unicor... |
OMIM:614527 |
| Yunis-Varon Syndrome |
|
Sparse eyebrow, Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Sev... |
ORPHA:3472 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... |
OMIM:618280 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Spina bifida, B... |
ORPHA:322 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Hypospadias, Intrauterine growth retardation, Cryptorchidism, Severe postnata... |
OMIM:194190 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short stature, Aplasia of the uterus, Spina bifida |
OMIM:274000 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retarda... |
OMIM:135900 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, High anterior hairline, Decreased body weight,... |
OMIM:182250 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Failure to thrive in infancy, Hypophosphatemic rickets, Cardiomegaly, Pe... |
ORPHA:51608 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Short stature, Cervical insufficiency |
OMIM:130050 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Umbilical hernia, Cryptorchidism, Hypothyroidism, Rectoperineal fistula, Bifid ute... |
OMIM:107480 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Disproportionate short stature, Occipital meningocele, Cryptorchidism, Anteriorly ... |
OMIM:276820 |
| Okamoto Syndrome |
|
Bifid uterus, Severe postnatal growth retardation |
ORPHA:2729 |
| Pallister-Killian Syndrome |
|
Hypospadias, Rhizomelia, Small scrotum, Umbilical hernia, Mesomelic/rhizomelic limb shortening, C... |
OMIM:601803 |
| Norrie Disease |
|
Delayed puberty, Uterine rupture, Cryptorchidism, Diabetes mellitus |
ORPHA:649 |
| Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Umbilical hernia, Cystocele, Cryptorchidism, Uterine prolapse, Short stature, Hy... |
ORPHA:286 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
