Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility |
OMIM:619696 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... |
OMIM:619949 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Immotile sperm, Male infertility, Abnormal sperm morphology |
OMIM:608653 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... |
ORPHA:52901 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Infertility |
OMIM:617961 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617644 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... |
OMIM:617959 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... |
OMIM:301077 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus |
OMIM:615703 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia |
OMIM:602390 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Aa Amyloidosis |
|
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of t... |
ORPHA:85445 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis |
ORPHA:2183 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... |
ORPHA:432 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... |
OMIM:615415 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... |
OMIM:278850 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... |
ORPHA:8 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... |
ORPHA:753 |
Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... |
ORPHA:261519 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:280679 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
48,Xyyy Syndrome |
|
Azoospermia, Male hypogonadism, Primary gonadal insufficiency |
ORPHA:99329 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... |
ORPHA:752 |
Ciliary Dyskinesia, Primary, 40 |
|
Azoospermia, Infertility, Absent outer dynein arms |
OMIM:618300 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Azoospermia, Infertility, Diabetes insipidus |
ORPHA:1445 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... |
OMIM:608836 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes... |
OMIM:300845 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... |
ORPHA:10 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Morm Syndrome |
|
Abnormality of the kidney, Hyperactivity, Aggressive behavior, Micropenis |
ORPHA:75858 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... |
OMIM:314390 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Patent urachus, Unilateral crypt... |
OMIM:618280 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Blind vagina, Atrial ... |
OMIM:608978 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Hyperactivity, Atrioventricular canal defect, Cryptorchidism, Abnormal hear... |
DECIPHER:39 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Neph... |
OMIM:130650 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Classic Galactosemia |
|
Hepatomegaly, Hepatic failure, Depression, Anxiety, Primary amenorrhea, Oligomenorrhea, Decreased... |
ORPHA:79239 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Atrial septal defect, Splenomegaly, Renal tubular at... |
OMIM:617303 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant diabetes me... |
ORPHA:90301 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... |
ORPHA:2232 |
Alg9-Cdg |
|
Ureteral hypoplasia, Hepatomegaly, Periportal fibrosis, Atrial septal defect, Inappropriate cryin... |
ORPHA:79328 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Cholangiocarcinoma, Apathy, Hepatomegaly, Testicular atrophy, Decreased ... |
ORPHA:465508 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Hypothyroidism, Elevated hepatic ... |
OMIM:617713 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... |
OMIM:306955 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Heparan sulfate excretion in urine, Aggressive behavio... |
OMIM:252920 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Hyperglycinuria, Aggressive behavior, Irritability |
OMIM:605899 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Leydig cell n... |
ORPHA:361 |
Endocrine-Cerebroosteodysplasia |
|
Sex reversal, Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Ambiguous genital... |
OMIM:612651 |
H Syndrome |
|
Amenorrhea, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Decreased... |
ORPHA:168569 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Hyperactivity, Unilateral renal agenesis, Gonadal dysgenesis, Tetralogy of Fa... |
ORPHA:3306 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Ureteral obstruction, Hematuria, Renal inte... |
ORPHA:449395 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast... |
OMIM:608022 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Prolinuria, Hyperactivity, Hyperglycinuria, Aggressive behavior |
OMIM:239500 |
48,Xxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... |
ORPHA:96263 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... |
OMIM:232200 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... |
ORPHA:731 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Metrorrhagia, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,... |
ORPHA:464329 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... |
ORPHA:91348 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failure, Hepatocellular car... |
OMIM:276700 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadi... |
ORPHA:300298 |
49,Xxxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... |
ORPHA:96264 |
Attrv30M Amyloidosis |
|
Impotence, Abnormal renal physiology, Nephropathy, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Thyroiditis, Pancreatitis, Hepatomegaly, Increased hepatic glycogen content, Hep... |
ORPHA:79259 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... |
ORPHA:3077 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... |
OMIM:200995 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nephrolithiasis, Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nai... |
OMIM:619827 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axi... |
ORPHA:251066 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged kidney, Adrenocortical ... |
ORPHA:116 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Atrial septal defect, Decreased response to growth hormone stimulation test, Hypera... |
ORPHA:485405 |
Ogden Syndrome |
|
Hydrocele testis, Global glomerulosclerosis, Bicuspid aortic valve, Microvesicular hepatic steato... |
OMIM:300855 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Proteinuria, De... |
ORPHA:251004 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Micropenis, Hypospadias, Aggressive behavior, Decreased testicular size, Emotional... |
OMIM:300354 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Atrial septal defect, Hepatosplenomegaly, Heparan sulfate excretion in urine,... |
ORPHA:505248 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Fatigable weakness of neck muscles, Hepatomegaly, Fatigable weakness, D... |
ORPHA:42 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... |
OMIM:212140 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly |
ORPHA:858 |
Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty |
ORPHA:90646 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Fragile X Syndrome |
|
Hyperactivity, Self-biting, Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macro... |
OMIM:300624 |
Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Hyperactivity, Elevated urinary 4-hydroxybutyric acid, Anxiety, Increase... |
OMIM:271980 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior, Cryptorchidism,... |
ORPHA:485350 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Micropenis, Ventricular septal defect, Attention deficit hyperactivity disorder, C... |
OMIM:618504 |
Leprechaunism |
|
Hyperinsulinemia, Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ovaries, In... |
ORPHA:508 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Jaundice, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism, Hyperactivity, Bipolar affective disorder, Attention deficit hyperactivity disorder |
OMIM:619927 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glom... |
ORPHA:85450 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Neuraminidase Deficiency |
|
Hepatomegaly, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Increased urinary O... |
OMIM:256550 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiomyop... |
OMIM:600649 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Renal dysplasia, Enlarged kidney, Ambiguous genitalia, Polycystic kidney dysplasia |
OMIM:613091 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Mucopolysacchariduria, Hypertrophic cardiomyopathy, ... |
OMIM:252500 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Aromatase Deficiency |
|
Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus, Hypergonadotropic hyp... |
ORPHA:91 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Cardiomegaly |
OMIM:255120 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Nephroblastoma, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
Beck-Fahrner Syndrome |
|
Depression, Anxiety, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiom... |
OMIM:618798 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... |
OMIM:618652 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Cardiomegaly |
ORPHA:88643 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Dicarboxylic aciduria, Exercise-induc... |
OMIM:201475 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... |
OMIM:614921 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Hypoplasia of penis, Hyperactivity, Cryptorchidism, Paroxysmal bursts of... |
ORPHA:228402 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity, Macroorchidism |
OMIM:300143 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Micropenis, Hypospadias, Ureteral duplication, Ventricular septal defect, Shawl sc... |
OMIM:617516 |
X-Linked Adrenoleukodystrophy |
|
Adrenal insufficiency, Urinary bladder sphincter dysfunction, Inappropriate sexual behavior, Impo... |
ORPHA:43 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Hydroureter, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Diabetes mel... |
OMIM:222300 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Priapism, Splenomegaly, Hematuria, Renal insufficiency, Jaundice, C... |
OMIM:603903 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic failure, Hepatic calcification, Myoglobinuria, Cystic renal dysplasia, Red-... |
ORPHA:228308 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma, Abnormal right ventricle morphology, Bifid ureter, ... |
ORPHA:500095 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Increased hepatic glycogen content, Depression, 3-Methylglutaconic aciduria, Cardiomyopathy, Card... |
OMIM:619259 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Self-injurious behavior, Atrial septal defect, Hyperactivity, Hypospadias, Ve... |
ORPHA:254346 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hepatoblastoma, Atrial septal defect, Splenomegaly, Right ventricular hypertrophy, ... |
OMIM:312870 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Citrullinemia Type Ii |
|
Pancreatitis, Hepatomegaly, Hyperactivity, Delayed menarche, Hepatocellular carcinoma, Elevated h... |
ORPHA:247585 |
Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Hyp... |
ORPHA:391428 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior |
ORPHA:101039 |
Bloom Syndrome |
|
Azoospermia, Cryptorchidism, Type II diabetes mellitus, Decreased fertility in females |
OMIM:210900 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Ventricular septal defect, Hydronephrosis, Hypertrophic cardiomyopathy, ... |
OMIM:616897 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
Pediatric-Onset Graves Disease |
|
Graves disease, Hepatomegaly, Hyperactivity, Splenomegaly, Increased circulating free T3, Increas... |
ORPHA:525731 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Impotence, Cardiomyopathy, Cardiomegaly, Urinary incontinence |
OMIM:105210 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Hyperthyroidism, Depression, Anxiety, Hypothyroidism, Mit... |
ORPHA:449291 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
Rauch-Steindl Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperactivity, Bilateral renal hypoplasia, Anxie... |
OMIM:619695 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... |
OMIM:157640 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Hyperactivity, Increased circulating... |
OMIM:275000 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Self-mutilation, Micropenis, Cryptorchidism, Microphallus, Small scrotum, Low frus... |
OMIM:300486 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Atrial septal defect, Decreased response to growth hormone stimulation test, Spleno... |
OMIM:602782 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Tuberous Sclerosis Complex |
|
Hepatic cysts, Stage 5 chronic kidney disease, Self-injurious behavior, Hyperactivity, Depression... |
ORPHA:805 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Hepatomegaly, Hyperactivity, Self-mutilation, Low frustration tolerance, Aggr... |
ORPHA:163681 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Hyperactivity, Aggressive behavior, Decreased ... |
ORPHA:85327 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Hyperactivity, Micropenis, Aggressive behavior, Cryptorchidism, Vesicourete... |
OMIM:609625 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Renal agenesis, Abnormal renal morphology, Male infertility, Hors... |
OMIM:227650 |
Argininemia |
|
Oroticaciduria, Hepatomegaly, Micronodular cirrhosis, Hyperactivity, Diaminoaciduria, Cholestasis... |
OMIM:207800 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inappropriate crying, Inappropriate laughter, Cryptorchidism, Cardiomegaly |
OMIM:618143 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone stimulation test... |
ORPHA:3464 |
Autosomal Dominant Cerebellar Ataxia |
|
Azoospermia |
ORPHA:99 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly, Abnormal renal physiology |
OMIM:266500 |
Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Hyperactivity, Dilatation of renal calices, Ventricular septa... |
OMIM:614294 |
Bloom Syndrome |
|
Oligospermia, Male infertility, Diabetes mellitus, Azoospermia, Premature ovarian insufficiency |
ORPHA:125 |
Mogs-Cdg |
|
Hydrocele testis, Hepatomegaly, Atrial septal defect, External genital hypoplasia, Inappropriate ... |
ORPHA:79330 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegal... |
ORPHA:255249 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly |
OMIM:239850 |
Sandhoff Disease |
|
Impotence, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Urinary incontinence |
OMIM:268800 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal ... |
OMIM:252900 |
Fanconi Anemia |
|
Absent testis, Bicornuate uterus, Abnormal preputium morphology, Decreased fertility in males, Hy... |
ORPHA:84 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pancreatic hy... |
OMIM:619991 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Female infertility, Situs inver... |
ORPHA:244 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hepatomegaly, Hyperactivity, Fatigable weakness of swallowing m... |
ORPHA:581 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Self-biting, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Macroorchidism, Hyperactivity, Ventricular septal defect, Aggressive behavi... |
OMIM:309520 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Self-injurious behavior |
OMIM:300322 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Cirrhosis, Left ventricular hypertrophy, Left atrial enla... |
ORPHA:57777 |
Gaucher Disease, Perinatal Lethal |
|
Apathy, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Cardiomegaly |
OMIM:608013 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Diphallia |
|
Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Bifid penis, Ecto... |
ORPHA:227 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Testicular atrophy, Impotence, Hyperinsulinemia, Hypergonadotropic hypogonadism, ... |
ORPHA:273 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Abnormal cardiac septum morphology, Abnormality of the thyroid gland, Atrial ... |
ORPHA:209905 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... |
OMIM:300257 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Williams Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Ventricular septal defect, Proteinuria, Polyc... |
ORPHA:904 |
Distal Monosomy 12Q |
|
Annular pancreas, Pituitary adenoma, Congenital hypertrophy of left ventricle, Hyperactivity, Mic... |
ORPHA:96149 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Elevated circulating alanine amin... |
ORPHA:308552 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Coffin-Siris Syndrome |
|
Atrial septal defect, Hepatoblastoma, Hyperactivity, Hypospadias, Tetralogy of Fallot, Papillary ... |
ORPHA:1465 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... |
ORPHA:363705 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Self-mutilation, Ventricular septal defect, Ambiguous genitalia, Small scrotum, Cho... |
OMIM:270400 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Fucosidosis |
|
Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Splenomegaly, Cardiomegaly |
OMIM:230000 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Vent... |
OMIM:618278 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Impulsivity, Atrial septal defect, Right ventricul... |
OMIM:300967 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Hyperactivity, Micropenis, Unilateral renal agenesis, Hypospadias, Anxiety... |
ORPHA:464306 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes ... |
ORPHA:96191 |
Distal Trisomy 17Q |
|
Hyperactivity, Accessory spleen, Renal duplication, Cryptorchidism, Vesicoureteral reflux, Abnorm... |
ORPHA:3379 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Happy demeanor, Nephroblast... |
ORPHA:97297 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Hypoplasia of the thymus, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Tetrasomy 9P |
|
Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Infertility, Hyperactivity,... |
ORPHA:3310 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Agoraphobia, Ventricular septal defect, Emotional lability, Abnormal heart morphology, Nephrolith... |
ORPHA:353281 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Cardiomegaly |
OMIM:618838 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, Stage 5 chro... |
OMIM:219800 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Hyperaldosteronism, Delayed puberty, Azoospe... |
ORPHA:534 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
Legius Syndrome |
|
Nephrolithiasis, Ovarian neoplasm, Hyperactivity, Male urethral meatus stenosis, Pulmonic stenosi... |
ORPHA:137605 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Hyperactivity, Hypoplastic left heart, Tetralogy of Fallot, Bladde... |
ORPHA:2209 |
Aicardi-Goutières Syndrome |
|
Micropenis, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Hypothyroidism, Elevated hepatic tra... |
ORPHA:51 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Renal cyst, Polycystic ovaries, Cardiomegaly |
ORPHA:137675 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperechogenic kidneys, Hyperactivity, Reduced renal corticomedullary differentiation, Emotional ... |
OMIM:620047 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Splenomegaly, Cardiomegaly, Urinary incontinence |
OMIM:232300 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cholelithiasis, Azoospermia, Delayed puberty |
ORPHA:2072 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Elevated circulating alanine amin... |
ORPHA:365 |
Abetalipoproteinemia |
|
Hepatomegaly, Cirrhosis, Hypothyroidism, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic... |
ORPHA:14 |
Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:1517 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Cor... |
OMIM:219700 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... |
OMIM:245600 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism |
ORPHA:3063 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hydrocele testis, Agoraphobia, Ventricular septal defect, Emotional lability, Abnormal heart morp... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hydrocele testis, Agoraphobia, Ventricular septal defect, Emotional lability, Abnormal heart morp... |
ORPHA:353277 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
Choreoacanthocytosis |
|
Apathy, Head-banging, Hepatomegaly, Self-injurious behavior, Irritability, Splenomegaly, Depressi... |
ORPHA:2388 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly, Renal artery stenosis |
OMIM:208000 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Right ventricular... |
ORPHA:1677 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormality of the thymus, Cardiomegaly |
ORPHA:2463 |
Generalized Arterial Calcification Of Infancy |
|
Medullary nephrocalcinosis, Hepatic calcification, Adrenal calcification, Pancreatic calcificatio... |
ORPHA:51608 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Irregular menstruation, Elevated hepatic transaminase, Epididymitis, ... |
OMIM:256040 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Yunis-Varon Syndrome |
|
Atrial septal defect, Micropenis, Hypospadias, Tetralogy of Fallot, Renovascular hypertension, Ve... |
ORPHA:3472 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:3384 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... |
ORPHA:99125 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... |
ORPHA:75565 |
Noonan Syndrome 1 |
|
Atrial septal defect, Pulmonic stenosis, Hypospadias, Ventricular septal defect, Male infertility... |
OMIM:163950 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... |
OMIM:182250 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Decreased nerve conduction velocity |
OMIM:615284 |