| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... |
OMIM:614470 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
| Spermatogenic Failure 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
OMIM:618341 |
| Spermatogenic Failure 72 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:301099 |
| Spermatogenic Failure 20 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618152 |
| Spermatogenic Failure 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
| Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Nephrotic syndrome, Neutrophilia, Hepa... |
OMIM:619644 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect, Cr... |
DECIPHER:39 |
| Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:619515 |
| Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... |
OMIM:618751 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619144 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... |
OMIM:301059 |
| Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... |
OMIM:301101 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
| Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... |
ORPHA:1646 |
| Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia |
OMIM:616871 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
| Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... |
OMIM:620222 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
| Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
| Spermatogenic Failure 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... |
OMIM:618643 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Spermatogenic Failure 25 |
|
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... |
OMIM:617960 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 57 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... |
OMIM:619528 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Hypospadias, ... |
ORPHA:261529 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... |
ORPHA:98798 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... |
OMIM:620135 |
| Spermatogenic Failure 30 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism |
OMIM:618110 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
| Spermatogenic Failure 79 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility |
OMIM:620196 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
| Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
ORPHA:98797 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 32 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:619831 |
| Pandas |
|
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Lymphopenia, Hypoplasia of the thym... |
OMIM:612541 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
| Spermatogenic Failure 62 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:620547 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
| Spermatogenic Failure 78 |
|
Male infertility, Tapered sperm head, Microcephalic sperm head |
OMIM:620170 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Glucose intolerance, Azoospermia, Cardiomyopathy, Impotence, Testicular atrophy, Sp... |
OMIM:235200 |
| Spermatogenic Failure 86 |
|
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrozoospermia, Multiflagellar spermatozoa |
OMIM:243060 |
| Spermatogenic Failure 22 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Attention deficit hyperactivit... |
ORPHA:3000 |
| Immunodeficiency 21 |
|
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... |
OMIM:614172 |
| Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Abnormal renal physiology, Cardiomegaly, Nephropathy |
ORPHA:85447 |
| Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Male infertility, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the ut... |
ORPHA:90797 |
| Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan s... |
OMIM:252920 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Gonadal dysgenesis, Unilateral renal agenesis, Hyperactivity, Cryptorchidism, Precocious puberty,... |
ORPHA:3306 |
| Ciliary Dyskinesia, Primary, 51 |
|
Short sperm flagella, Situs inversus totalis, Male infertility, Oligozoospermia, Reduced sperm mo... |
OMIM:620438 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Classic Galactosemia |
|
Premature ovarian insufficiency, Hepatomegaly, Male infertility, Secondary amenorrhea, Depression... |
ORPHA:79239 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr... |
OMIM:620565 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Splenomegaly, Cardiomegaly |
OMIM:269920 |
| Leydig Cell Hypoplasia |
|
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Secondary amenorrhea, H... |
ORPHA:755 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... |
OMIM:619802 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Urinary excretion o... |
OMIM:256550 |
| Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Recurrent hypog... |
OMIM:212140 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... |
ORPHA:168563 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Thrombocytopenia, Hepatomegaly, Anemia |
ORPHA:858 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... |
ORPHA:3077 |
| Immunodeficiency 32B |
|
Hepatomegaly, Anemia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, Monocytopenia, ... |
OMIM:226990 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes... |
ORPHA:99429 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Dysphagia, Restlessness, Cardiomegaly, Hypoglycemia, Abnormal concen... |
ORPHA:391428 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele, Nephrolithiasis |
OMIM:301060 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... |
ORPHA:860 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Primary amenorrhea,... |
OMIM:273250 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hepatomegaly, Fatigable weakness, Hypoglycemia, Cardiomegaly, Elevated uri... |
ORPHA:42 |
| Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Erectile dysfunction, Decreased libido, Cardiomyopathy, Infertility, Testicular atr... |
ORPHA:465508 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... |
OMIM:618652 |
| Ciliary Dyskinesia, Primary, 50 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:620356 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Hydronephrosis, Motor st... |
OMIM:620141 |
| Amed Syndrome, Digenic |
|
Anemia, Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Attention deficit hyperactivity dis... |
OMIM:619151 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Dyspareunia, Ect... |
ORPHA:3109 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia |
OMIM:600649 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypoglycemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... |
OMIM:618433 |
| Ovarian Dysgenesis 2 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:300510 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... |
OMIM:612964 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Azoospermia, Hyperactivity, Oligozoospermia, Impulsivity, Varicoce... |
ORPHA:8 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... |
OMIM:300280 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... |
ORPHA:1916 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... |
OMIM:277000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... |
OMIM:617565 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Hepatosplenomegaly, Leukopenia, Lymphopenia, ... |
OMIM:618986 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Male infertility, Dextrocardia, Asplenia |
OMIM:618948 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Motor... |
ORPHA:449291 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Beck-Fahrner Syndrome |
|
Attention deficit hyperactivity disorder, Ventricular septal defect, Cardiomegaly, Depression |
OMIM:618798 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... |
OMIM:612310 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia, Anemia |
OMIM:618838 |
| Mulibrey Nanism |
|
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
| Spermatogenic Failure 85 |
|
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... |
OMIM:620490 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy... |
OMIM:618280 |
| Sickle Cell Disease |
|
Hepatomegaly, Hematuria, Leukocytosis, Splenic infarction, Target cells, Splenomegaly, Priapism, ... |
OMIM:603903 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Amenorrhea, Hypoplasia of the uterus, Female infertility |
OMIM:617442 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Aplasia of the ute... |
ORPHA:2237 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma |
ORPHA:615 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... |
ORPHA:251510 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased fertility, Ambiguous genitalia, male, Male infertility, Blind vagina, Female external g... |
ORPHA:90793 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Anemia, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
| Spermatogenic Failure 2 |
|
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia |
OMIM:108420 |
| Timothy Syndrome |
|
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia, Ventricular septal defect |
OMIM:601005 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Hypoplasia of the uterus, Azoospermia, Hypoplasia of the ovary, Secondar... |
ORPHA:432 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism |
OMIM:620103 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Male infertility |
OMIM:300991 |
| Long-Olsen-Distelmaier Syndrome |
|
Secundum atrial septal defect, Cardiomegaly, Hypoglycemia, Ventricular septal defect, Dilated car... |
OMIM:620609 |
| Estrogen Resistance |
|
Hyperinsulinemia, Impaired glucose tolerance, Primary amenorrhea, Polycystic ovaries, Glucose int... |
OMIM:615363 |
| Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619949 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular septal defect... |
OMIM:616897 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Attrv122I Amyloidosis |
|
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... |
ORPHA:85451 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Primary amenorrhea, Cryptorchidis... |
OMIM:614841 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... |
ORPHA:324410 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Hypertrophic cardiomyopathy,... |
OMIM:201475 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Azoospermia, Hypergonadotropic hypogonadism, Pulmonic stenosi... |
OMIM:602782 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid... |
OMIM:614837 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... |
OMIM:158330 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus |
OMIM:601076 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hematuria, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, Uterus didelphys, Pr... |
OMIM:146255 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure... |
OMIM:154230 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Renal salt wasting, Ambiguous genitalia, male, Neonatal hypoglycemia, Clitoral hypertrophy, Femal... |
ORPHA:168558 |
| Spermatogenic Failure 6 |
|
Male infertility, Globozoospermia, Decreased acrosin in sperm head |
OMIM:102530 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis |
ORPHA:99931 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... |
OMIM:266810 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Hypoplasia of the... |
OMIM:619203 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Ambiguous genitalia, male, Neonatal hypoglycemia, Clitoral hypertrophy, Femal... |
ORPHA:289548 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia, Renal tubular acidosis, Cardiomega... |
OMIM:255120 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... |
OMIM:615300 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypo... |
OMIM:227650 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia, Tetralogy of Fallot, Horseshoe kidney, Abnormal cardiac ... |
ORPHA:3320 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
OMIM:266500 |
| Hydatidiform Mole |
|
Menometrorrhagia, Anemia, Enlarged uterus |
ORPHA:99927 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Attention deficit hyperactivity disorder, H... |
OMIM:617914 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Hypospadias, Unilateral renal agenesis, Nephrolithiasis, Re... |
OMIM:137920 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Addictive alcohol use, Left vent... |
ORPHA:57777 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility, Ambiguous genitalia, male, Female external genitalia in individual with 46,X... |
ORPHA:90796 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Bicornuate ute... |
OMIM:601186 |
| Perrault Syndrome 3 |
|
Primary amenorrhea, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus, Primary ameno... |
OMIM:619665 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar... |
ORPHA:244 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Primary amenorrhea, Glucose intolerance, Hypoplasi... |
ORPHA:785 |
| Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Male infertility, Reduced sperm motility, Immotile sperm, Polysplenia |
OMIM:613807 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
| Sandhoff Disease |
|
Urinary incontinence, Hepatomegaly, Impotence, Increased urinary N-acetylglucosamine-rich oligosa... |
OMIM:268800 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... |
ORPHA:91 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... |
OMIM:306955 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal temper tantrums, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, Hyperacti... |
ORPHA:581 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... |
OMIM:608836 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Male infertility |
OMIM:612444 |
| Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Hepatosplenomegaly, Thrombocytopenia, Left ventricular... |
ORPHA:79330 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia,... |
ORPHA:228308 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
| Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Macrocytic anemia, Hyperactivity, Dilatation of renal calices, Coronary artery fist... |
OMIM:614294 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly |
OMIM:617713 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, male, Bifid scrotum, Bicuspid aortic valve, Hypospadias, Azoospermia, Urogen... |
ORPHA:1772 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... |
OMIM:620642 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Irritability, Hepatomegaly, Chronic hemolytic anemia, Ventricular hypertrophy, Leukocytosis, Reti... |
OMIM:618278 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Anemia, Decreased glomerular filtration rate, Primary testicular ... |
ORPHA:85450 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Depression |
OMIM:619259 |
| Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Male infertility, Immotile sperm |
OMIM:614874 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Urinary incontinence, Cardiomyopathy, Impotence |
OMIM:105210 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ... |
ORPHA:322 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the uterus, Amenorrhea, Hypopla... |
ORPHA:3130 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... |
OMIM:278850 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Neonatal hypoglycemia, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux... |
OMIM:130650 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Lumbar Syndrome |
|
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen... |
ORPHA:83628 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Cryptorchidism, Inappropriate laughter, Hepatomegaly |
OMIM:618143 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement |
OMIM:614473 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Anemia, Hepatosplenomegaly, Splenomegaly, Dysphagia, Thrombocytopenia, Cardiomegaly |
OMIM:608013 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Abnormal ovarian physiology, Precocious puberty in females, Elevated urinar... |
ORPHA:90794 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... |
ORPHA:363705 |
| 46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... |
OMIM:233420 |
| Spermatogenic Failure 14 |
|
Male infertility, Round spermatid arrest, Azoospermia |
OMIM:615842 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Hydronephrosis, Cardiomegaly, Hypoglycemia, Ventricular septal defect, Dilated card... |
OMIM:614921 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal defect, Labial... |
ORPHA:96191 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate ... |
OMIM:614527 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary, Primary amenorrhea |
ORPHA:247768 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Pollakisuria, Dysphagia, Right ventricular hypertrophy |
ORPHA:268 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis, Impaired glucose tolerance, ... |
OMIM:219090 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Male infertility, Dextrocardia |
OMIM:619607 |
| Fucosidosis |
|
Mucopolysacchariduria, Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Meckel Syndrome 14 |
|
Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Single ventricle |
OMIM:619879 |
| Ogden Syndrome |
|
Left atrial enlargement, Enlarged kidney, Dysphagia, Cardiomegaly, Bicuspid aortic valve, Irritab... |
OMIM:300855 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial ... |
OMIM:261740 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Impulsivity, Cryptorchidism, Left ventricular no... |
OMIM:300967 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
| Fanconi Anemia, Complementation Group L |
|
Anemia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Attention deficit hyp... |
OMIM:614083 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Atrioventricular canal defect, Ureteral duplication, Anemia, Vesicoureteral reflux, Aplasia of th... |
OMIM:274000 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... |
OMIM:258040 |
| Danon Disease |
|
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... |
OMIM:300257 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus |
OMIM:617022 |
| Spermatogenic Failure 13 |
|
Male infertility, Azoospermia |
OMIM:615841 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Renal cyst, Cardiomegaly, Hypoglycemia, Ventricular septal defect, Polycystic ovaries |
ORPHA:137675 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat... |
OMIM:309801 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Male infertility |
OMIM:614935 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia |
OMIM:616258 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens |
ORPHA:48 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
| Fucosidosis |
|
Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid... |
OMIM:230000 |
| Aicardi-Goutières Syndrome |
|
Irritability, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic card... |
ORPHA:51 |
| Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Anemia, Congenital hydrocele, Increased B cell count, Increased T cell count, Leuko... |
OMIM:620376 |
| Williams Syndrome |
|
Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, Mitral valve prol... |
ORPHA:904 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia |
OMIM:617466 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... |
ORPHA:308552 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina |
ORPHA:457284 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Fatigable weakness of respiratory muscles, Hepatomegaly, Hypertrophic cardiomyopathy, Dysphagia, ... |
ORPHA:365 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Neonatal hypoglycemia, Hepatomegaly, Congenital megaureter... |
ORPHA:116 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
| Cystinosis, Nephropathic |
|
Polydipsia, Generalized aminoaciduria, Dysphagia, Splenomegaly, Stage 5 chronic kidney disease, N... |
OMIM:219800 |
| Okamoto Syndrome |
|
Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect, Aortic val... |
ORPHA:2729 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Emotional lability, Vesicoureteral re... |
ORPHA:353281 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Irritability, Hepatomegaly, Anemia, Hypospadias, Lymphocytosis, Patent f... |
OMIM:619991 |
| Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Hyperinsulinemia, Hypoplasia of the uterus, Abnormal spermatogen... |
ORPHA:3464 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis |
OMIM:208000 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly |
OMIM:232300 |
| Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the fallopian tube, Hype... |
OMIM:241080 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... |
OMIM:271520 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Hypoplasia of the uterus, Irregu... |
OMIM:110100 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
| Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Fatigable weakness of skeletal muscles, Abnormal scrota... |
ORPHA:284339 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ... |
OMIM:252500 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... |
ORPHA:95430 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Impaired glucose tolerance, Thrombocytopenia, Splenomegaly, Epididymitis, Cardiomeg... |
OMIM:256040 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale, Cryptorchidism, Splenic cyst |
OMIM:620371 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Compulsive... |
OMIM:135900 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... |
OMIM:202010 |
| Abetalipoproteinemia |
|
Hepatomegaly, Anemia, Reticulocytosis, Cardiomegaly, Acanthocytosis |
ORPHA:14 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... |
ORPHA:980 |
| Truncus Arteriosus |
|
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... |
ORPHA:3384 |
| Acromesomelic Dysplasia 3 |
|
Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Norrie Disease |
|
Irritability, Erectile dysfunction, Uterine rupture, Cryptorchidism, Motor stereotypy, Attention ... |
ORPHA:649 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Hypospadias, Renal artery stenosis, Cardiomyopathy, Cryptorchidism, Renovas... |
ORPHA:3472 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Accessory spleen, Aplasia of the uterus, Cryptorchidism, Precocious puberty, Motor s... |
OMIM:194190 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Urinary retention, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Accessory spleen, Abnormal vagina morphology, Hydronephrosis, Bifid uterus, Ventricu... |
OMIM:236680 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... |
OMIM:107480 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Hypoplasia ... |
OMIM:618419 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary, Primary amenorrhea |
ORPHA:69085 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocel... |
OMIM:130050 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea, Hypergonadotropi... |
ORPHA:572333 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... |
ORPHA:75565 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... |
OMIM:201750 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Neu-Laxova Syndrome 1 |
|
Transposition of the great arteries, Patent foramen ovale, Ventricular septal defect, Bifid uteru... |
OMIM:256520 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Male infertility, Hypospadias, Amegakaryocytic thrombocytopenia... |
OMIM:163950 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Hypercalciuria, Hepatosplenomegaly, Cor pulmonale |
OMIM:219700 |
| Peters Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Bicuspid pulmonary valve, Clitoral h... |
ORPHA:709 |
| Generalized Arterial Calcification Of Infancy |
|
Irritability, Ventricular hypertrophy, Medullary nephrocalcinosis, Hyperphosphaturia, Pericardial... |
ORPHA:51608 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Abnormal heart valve morphology, Renovascular hypertension, Uterine... |
ORPHA:286 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Clitoral hypoplasia, Pulmonic stenosis, Renal hypoplasia, Cryp... |
OMIM:261540 |
| Pallister-Killian Syndrome |
|
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Hypertrophic ... |
OMIM:601803 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism |
OMIM:276820 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... |
OMIM:182250 |
