Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... |
OMIM:235200 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... |
ORPHA:99886 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degener... |
OMIM:520000 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Female infertility, Situs inversus totalis, Hypothyroidism, Goiter |
OMIM:617577 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly |
ORPHA:85447 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Hypothyroidism, Spl... |
ORPHA:465508 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Impotence, Glucose i... |
OMIM:606069 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy |
OMIM:614702 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Cardiomegaly |
OMIM:618838 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Optic atrophy, Cardiomyopathy, Pigmentary retinopathy, Hyp... |
OMIM:222300 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... |
OMIM:262190 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Recurrent hypoglycemia, Endocardial fibroelastosis, I... |
OMIM:212140 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Pri... |
OMIM:604367 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... |
ORPHA:244 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly |
ORPHA:858 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Paten... |
OMIM:601005 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction |
OMIM:253250 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Cardiomegaly, Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration |
ORPHA:391428 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly |
OMIM:255120 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomegaly |
ORPHA:42 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Refsum Disease, Classic |
|
Cardiomyopathy, Retinal degeneration, Cardiomegaly |
OMIM:266500 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... |
ORPHA:552 |
Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Optic atrophy, Hep... |
ORPHA:79330 |
Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy |
OMIM:616897 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia,... |
OMIM:130650 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism |
OMIM:617713 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly |
OMIM:268800 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Hypoglycem... |
OMIM:614921 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cholelithiasis, Priapism |
OMIM:603903 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Cardiomegaly |
OMIM:105210 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Cardiomegaly, Dilated cardiomyopathy, Enlarg... |
OMIM:608836 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,... |
OMIM:261740 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:619259 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Fucosidosis |
|
Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Cardiomegaly |
OMIM:618143 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Abnormal myocardium morphology, Hypoketotic hypoglycemia |
ORPHA:228308 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Coronary artery stenosis, Type II diabetes mellitus |
OMIM:615812 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, High urinary gonadotr... |
ORPHA:99413 |
Turner Syndrome |
|
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, High urinary gonadotr... |
ORPHA:881 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, High urinary gonadotr... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, High urinary gonadotr... |
ORPHA:99226 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:620185 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Optic atrophy, Polycystic ov... |
ORPHA:137675 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Hypoplastic tricuspid valve, Diabetes mellitus, Double outlet left ventricle,... |
OMIM:600001 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, Cardiomegaly, Secundum atrial ... |
OMIM:300855 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Hypospadias, Ventricular septal defect, Septate vagina, Dextrocardia, Remnant... |
OMIM:300166 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Neonatal hypoglycemia, Cardiomegaly, Crypt... |
ORPHA:116 |
Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system |
ORPHA:231736 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... |
ORPHA:3384 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Pigmentary retinopathy, Abnormal aortic ... |
ORPHA:581 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system |
OMIM:120200 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
Bohring-Opitz Syndrome |
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Retinal atrophy, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, Cholelithiasis,... |
ORPHA:97297 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Aicardi-Goutières Syndrome |
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Diabetes mellitus, Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Hyp... |
ORPHA:51 |
Fucosidosis |
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Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
Glycogen Storage Disease Ii |
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Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Impaired glucose tolerance, Cardiomegaly, Splenomegaly, Epididymitis, Elevated circ... |
OMIM:256040 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Lesch-Nyhan Syndrome |
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Testicular atrophy |
OMIM:300322 |
Abetalipoproteinemia |
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Hepatomegaly, Abnormality of retinal pigmentation, Hypothyroidism, Cardiomegaly |
ORPHA:14 |
Liver Disease, Severe Congenital |
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Hepatomegaly, Hypospadias, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Bili... |
OMIM:619991 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system |
OMIM:257910 |
X-Linked Intellectual Disability, Snyder Type |
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Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias |
ORPHA:3063 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Yunis-Varon Syndrome |
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Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
Norrie Disease |
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Retinal detachment, Diabetes mellitus, Remnants of the hyaloid vascular system, Cryptorchidism, O... |
ORPHA:649 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Williams Syndrome |
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Abnormal endocardium morphology, Atrial septal defect, Hypoplasia of penis, Overriding aorta, Hyp... |
ORPHA:904 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal nonattachment, Remnants of the hyaloid vascular system |
OMIM:221900 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Adrenal hypoplasia, Diabetes insipidus, Anterior pituita... |
OMIM:157170 |
Pierson Syndrome |
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Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage |
OMIM:609049 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Retinal hemor... |
ORPHA:51608 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system |
ORPHA:637 |
Neuroocular Syndrome |
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Remnants of the hyaloid vascular system, Patent foramen ovale |
OMIM:619539 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
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OMIM:608782 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
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ORPHA:79246 |