| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... |
OMIM:614962 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... |
OMIM:228300 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Shyness, Cryptorchidism, Increased circulating gonad... |
ORPHA:163971 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse body hair |
ORPHA:85274 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility |
OMIM:300604 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| 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 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Cone-Rod Dystrophy 1 |
|
Hypogonadism |
OMIM:600624 |
| 49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
| Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Po... |
ORPHA:177910 |
| Bardet-Biedl Syndrome 5 |
|
Micropenis, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615983 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| 49,Xyyyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Impulsivity, Incr... |
ORPHA:99330 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity, Thick eyebrow |
OMIM:309585 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:1180 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... |
ORPHA:90791 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
| Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Sparse body hair, Failure to thrive, Decreased tes... |
ORPHA:261483 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd... |
ORPHA:3055 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... |
ORPHA:90797 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Obesity, Renal cyst |
OMIM:615987 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
| 7P22.1 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:314034 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Obesity, Childhood-onset truncal obesity, Increased adipose tissue |
ORPHA:71529 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Hypogona... |
OMIM:615547 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian... |
OMIM:261550 |
| Luscan-Lumish Syndrome |
|
Aggressive behavior, Shyness, Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, Hi... |
OMIM:616831 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
| Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism |
OMIM:615982 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Highly arched eyebrow, Abnormal repetitive mannerisms, Crypto... |
ORPHA:228402 |
| Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism |
ORPHA:1123 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... |
ORPHA:99429 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Decreased fertility, Obesity, Low posterior hairline, Hypogonadism, High ... |
ORPHA:2233 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Deafness, Congenital, With Total Albinism |
|
Hypogonadism, Albinism |
OMIM:220900 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
| Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Agi... |
ORPHA:85282 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... |
OMIM:610628 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... |
ORPHA:398069 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism |
OMIM:274205 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, External genital hypoplasia, Stage 5 chronic kidney disease, Renal cyst, Obe... |
OMIM:615993 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612964 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... |
OMIM:146110 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... |
ORPHA:2234 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... |
ORPHA:168558 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... |
OMIM:194072 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Hao-Fountain Syndrome |
|
Cryptorchidism, Micropenis, Premature adrenarche, Aggressive behavior |
OMIM:616863 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism,... |
OMIM:615542 |
| Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Cleft palate, Hypoplasia ... |
ORPHA:247768 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Atte... |
ORPHA:3000 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Morbid Obesity And Spermatogenic Failure |
|
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility |
OMIM:615703 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Hypergonadotropic hypogonadism, Absent facial hair, High, narrow palate, Obes... |
ORPHA:2183 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity |
OMIM:618406 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... |
ORPHA:232 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
| Aarskog-Scott Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... |
OMIM:305400 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
| Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
OMIM:176270 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis |
OMIM:301900 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism |
OMIM:312910 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Polyembryoma |
|
Fever, Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality... |
ORPHA:180229 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
| Osteomesopyknosis |
|
Increased bone mineral density, Infertility |
OMIM:166450 |
| Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha... |
OMIM:300148 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... |
ORPHA:243 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
OMIM:275400 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... |
ORPHA:465508 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Ane Syndrome |
|
Alopecia, Multiple joint contractures, Hypogonadotropic hypogonadism, Anterior pituitary hypoplas... |
ORPHA:157954 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Pseudobulbar paralysis, Premature ovarian insufficiency |
ORPHA:101006 |
| Spastic Paraparesis-Deafness Syndrome |
|
Hypogonadism |
ORPHA:2815 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Alopecia, Premature ovarian... |
ORPHA:2959 |
| Obesity And Hypopigmentation |
|
Polyphagia, Obesity |
OMIM:620195 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
ORPHA:363741 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian insufficien... |
ORPHA:3464 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypothermia, Cryptorchidism, Ambiguous genitalia |
ORPHA:168593 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
| Wagro Syndrome |
|
Decreased testicular size, Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behav... |
OMIM:612469 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Polyphagia... |
OMIM:606407 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity, Aggressive behavior |
ORPHA:329249 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Frasier Syndrome |
|
Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Male pseudohermap... |
ORPHA:347 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Premature ovarian insufficiency, Hypogonado... |
OMIM:241080 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... |
OMIM:300946 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea |
OMIM:184700 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... |
ORPHA:3363 |
| Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71526 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Alopecia of scalp, Hypogonadism, Decreased serum testosterone concentration, Failure to thrive, D... |
OMIM:201100 |
| Wilson-Turner Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity, Thick eyebrow |
ORPHA:3459 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or abs... |
ORPHA:3130 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| N Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:2608 |
| Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... |
ORPHA:110 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Bowen-Conradi Syndrome |
|
Cryptorchidism, Camptodactyly of finger |
ORPHA:1270 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... |
ORPHA:10 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615981 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Hypogonadism, Generalized hypertrichosis |
ORPHA:1383 |
| Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Obesity, Type II diabetes mellitus, Dis... |
ORPHA:2377 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... |
OMIM:212840 |
| 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 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
| Trisomy 18P |
|
Highly arched eyebrow, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Attention... |
ORPHA:1715 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Obesity |
OMIM:615985 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... |
ORPHA:280356 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male,... |
OMIM:608800 |
| Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity |
ORPHA:893 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Irregular menstruation, Obesity, Truncal obesity, Polydipsia, Polyphagia |
OMIM:615986 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast apla... |
ORPHA:3044 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
| Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
OMIM:616222 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Attention deficit hyperactivity disorder, Arthrogryposis multiplex c... |
ORPHA:250994 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ... |
ORPHA:562 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Thrombocytopen... |
ORPHA:464329 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism, Inguinal hernia |
ORPHA:1568 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Chung-Jansen Syndrome |
|
Impulsivity, Aggressive behavior, Cryptorchidism, Synophrys, Obesity, High palate, Attention defi... |
OMIM:617991 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Neoplasm of the anterior pituitary, R... |
ORPHA:2495 |
| Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Hyperactivity, Inguinal hernia, Aggressive behavior, Cryptorchidism, Self-inju... |
OMIM:618362 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
| Huntington Disease |
|
Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol u... |
ORPHA:399 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Increased body mass index, Tall stature, Decreased thyroid-stimulating ... |
ORPHA:300373 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Kleine-Levin Syndrome |
|
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, D... |
ORPHA:33543 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism, Cleft palate |
ORPHA:1074 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Cryptorchidism, Failure to thrive, Hypogonadotropic hypogonadism |
OMIM:619310 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| 48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Inguinal hernia, Abnormal dental enamel morphology, Cryptorch... |
ORPHA:96263 |
| Leopard Syndrome 1 |
|
Bundle branch block, Hypospadias, Unilateral renal agenesis, Limited elbow movement, Delayed mena... |
OMIM:151100 |
| Polydactyly-Myopia Syndrome |
|
Cryptorchidism, Inguinal hernia, Femoral hernia |
ORPHA:2917 |
| Perrault Syndrome 5 |
|
High palate, Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:616138 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Obesity, Hypogonadism, Hydron... |
OMIM:615996 |
| Image Syndrome |
|
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Hydronephrosis |
ORPHA:85173 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Macroglossia, Abdominal obesity,... |
OMIM:300354 |
| Angelman Syndrome |
|
Hyperactivity, Fair hair, Precocious puberty in females, Aggressive behavior, Protruding tongue, ... |
ORPHA:72 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus, Azoospermia, B... |
OMIM:601076 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| X-Linked Intellectual Disability, Siderius Type |
|
Cryptorchidism, Synophrys, Decreased testicular size, Low posterior hairline |
ORPHA:85287 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Abnormality of the ureter, Obesity,... |
ORPHA:3409 |
| 3Q13 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:1621 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Joint hypermobility, Pa... |
OMIM:617052 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Proteinuria, Unilateral renal agenesis, Maturity-onset diabetes o... |
OMIM:137920 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
| Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Unilateral cryptorchidism, Impulsivity, Aggressive behavior, Sparse eyebrow, Attention deficit hy... |
OMIM:618286 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
| Megalencephaly |
|
Macroorchidism, Truncal obesity, Long penis |
ORPHA:2477 |
| Cornelia De Lange Syndrome 5 |
|
Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Cleft palate, Truncal ob... |
OMIM:300882 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Knee flexion contracture, Cryptorchidism, Decreased body weight |
OMIM:616681 |
| Gordon Syndrome |
|
Cryptorchidism, High palate, Camptodactyly of finger, Cleft palate |
ORPHA:376 |
| Crandall Syndrome |
|
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... |
ORPHA:202 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
| Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Macroorchi... |
ORPHA:3077 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, High palate, Small pituitary g... |
OMIM:612702 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormal hair morphology, Cryptorchidism, Abnormality of the endocrine system, Per... |
OMIM:264600 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Camptodactyly of toe, Truncal obesity, Hypogo... |
ORPHA:127 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Ect... |
ORPHA:1643 |
| Satoyoshi Syndrome |
|
Alopecia, Malabsorption, Hypoplasia of the uterus, Alopecia universalis, Amenorrhea |
OMIM:600705 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Tall stature, Diabetes mellitus, Lipodystrophy, Reduced intr... |
OMIM:608594 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
ORPHA:96184 |
| 14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti... |
OMIM:600955 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Tall stature, Lipodystrophy, Reduced intraabdominal adipose ... |
OMIM:269700 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... |
ORPHA:206484 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... |
ORPHA:752 |
| Fetal Minoxidil Syndrome |
|
Cryptorchidism, Umbilical hernia, Generalized hirsutism |
ORPHA:1918 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615269 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism... |
OMIM:614613 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:619737 |
| Central Precocious Puberty In Male |
|
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Overgrowth, Abnormal... |
ORPHA:649929 |
| Alazami-Yuan Syndrome |
|
Hyperactivity, Thick eyebrow, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hair... |
OMIM:617126 |
| Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Cryptorchidism, Obesity |
OMIM:615633 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Osteoporosis, Hype... |
ORPHA:2169 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Flexion contracture, Obesity, High palate, Bruxism, Macroorchidism, Male hypogonadi... |
OMIM:300055 |
| Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism |
ORPHA:2022 |
| Morm Syndrome |
|
Truncal obesity, Hyperactivity, Micropenis, Aggressive behavior |
ORPHA:75858 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism |
OMIM:254000 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... |
OMIM:240950 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity |
ORPHA:411515 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, External genital hypoplasia, Frontal balding, Early balding,... |
ORPHA:3041 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Abnormality of temperature regulation, Camptodactyly of finger, Cryptorchidi... |
ORPHA:3138 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Diabetes mel... |
ORPHA:93111 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Cryptorchidism, Renal hypoplasia, Obesity, Umbilical hernia, Micropenis |
ORPHA:171839 |
| Androgen Insensitivity Syndrome |
|
Inguinal hernia, Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axill... |
OMIM:300068 |
| Hemochromatosis, Type 2A |
|
Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea |
OMIM:602390 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... |
ORPHA:95699 |
| Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... |
ORPHA:95496 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... |
ORPHA:99827 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Failure to thrive, Self-mutilation |
OMIM:604317 |
| Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, High palate, Sparse hair, A... |
ORPHA:284180 |
| 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, High palate, Abnormal repetitive mannerisms, Aplasia/hypoplasia ... |
ORPHA:96121 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Fever, Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix m... |
ORPHA:3411 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
| Limb-Mammary Syndrome |
|
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... |
ORPHA:69085 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Precocious puberty, Cryptorchidism... |
ORPHA:3306 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Small for gestational age, Hypospadias, Cryptorchidism, Micropenis, Failure to thrive |
OMIM:612626 |
| O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Self-injurious behavior, Skin-picking, Aggressive behavior |
OMIM:618512 |
| Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Cleft palate, Ectopic ... |
ORPHA:1703 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Cle... |
OMIM:244200 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia, Hypogonadism, Cachexia |
ORPHA:2574 |
| Tetralogy Of Fallot |
|
Cryptorchidism |
ORPHA:3303 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Oral cavity bleedi... |
ORPHA:98870 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Exaggerated median tongue furrow, Obesity, Tall stature |
OMIM:300602 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te... |
OMIM:614880 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym... |
ORPHA:543 |
| Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Cryptorchidism, Elbow fle... |
OMIM:619110 |
| Congenital Myopathy 9A |
|
Cryptorchidism, Obesity |
OMIM:618822 |
| Trisomy 5P |
|
Hypoplasia of penis, Obesity |
ORPHA:1742 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Hypospadias, Aggressive behavior, Sparse eyebrow, Cryptorchidism, Hypoplastic labi... |
ORPHA:495875 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... |
OMIM:110100 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Restlessness, External genital hypoplasia, Aggressive behavior, Crypto... |
ORPHA:251028 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Hypogonadism |
ORPHA:2528 |
| 15Q24 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Co... |
ORPHA:94065 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ... |
OMIM:154230 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Inguinal hernia, Fine hair |
ORPHA:1174 |
| Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, High palate, Impaired social i... |
ORPHA:254531 |
| Deafness, Conductive, With Malformed External Ear |
|
Hypogonadism |
OMIM:221300 |
| Joubert Syndrome 37 |
|
Cryptorchidism, Obesity, Hydronephrosis, High palate, Sparse hair, Micropenis, Decreased testicul... |
OMIM:619185 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
High palate, Hernia of the abdominal wall, Hypogonadism |
ORPHA:3216 |
| Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Cryptorchidism |
ORPHA:408 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
| Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Reduced radioactive iodine uptake, Hypothermia, Decr... |
ORPHA:90674 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... |
OMIM:619151 |
| Carpenter Syndrome |
|
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Obesity, Um... |
ORPHA:65759 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Hydatidiform Mole |
|
Hyperthyroidism, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesity, Microphallus |
OMIM:300957 |
| Hemochromatosis, Type 1 |
|
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular at... |
OMIM:235200 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Intellectual Disability, Wolff Type |
|
Inguinal hernia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Low posterior hairline, Ab... |
ORPHA:3080 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Osteoporosis, Gout, Glucose intolerance, Type II diabetes mellitus |
OMIM:610947 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Childhood-onset truncal obesity |
OMIM:610156 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
| Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Omphalocele, Small for gestational age, Congenital diaphragmatic hernia, Abnormali... |
ORPHA:95706 |
| Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy... |
ORPHA:528 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Hypogonadism |
OMIM:615768 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Inguinal hernia, Multiple joint contractures, Hypospadias, Cryptorchidism, Flexion contracture, A... |
OMIM:301830 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Imagawa-Matsumoto Syndrome |
|
Cryptorchidism, Birth length greater than 97th percentile, Anteriorly placed anus, Overgrowth, Ca... |
OMIM:618786 |
| Retinitis Pigmentosa 59 |
|
Cryptorchidism, Micropenis, Renal insufficiency, Failure to thrive |
OMIM:613861 |
| Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Arthrogryposis multiplex congenita, Flexion contracture of finger, Small for gest... |
ORPHA:319332 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa... |
OMIM:300200 |
| Trisomy 4P |
|
Hypospadias, Camptodactyly of finger, Abnormal hair pattern, Cryptorchidism, Low anterior hairlin... |
ORPHA:1738 |
| Myotonic Dystrophy 1 |
|
Frontal balding, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular ... |
OMIM:160900 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
| Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| 6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... |
ORPHA:813 |
| Developmental And Epileptic Encephalopathy 70 |
|
Cryptorchidism, Flexion contracture |
OMIM:618298 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-onset diabetes ... |
ORPHA:324575 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Abnormal hair patte... |
ORPHA:85293 |
| Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism, Unilateral renal hypoplasia, Decreased body weight |
OMIM:617564 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellit... |
ORPHA:276580 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellitus, Hyperinsulinemi... |
ORPHA:276575 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Inguinal hernia, Hypospadias, Dysmenorrhea, Small for gestational age, Cryptorchid... |
ORPHA:397590 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Failure t... |
ORPHA:412035 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Increased circulating ferritin concentratio... |
OMIM:613313 |
| Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth... |
OMIM:616629 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615266 |
| Lessel-Kubisch Syndrome |
|
Renal insufficiency, Sparse pubic hair, Renal hypoplasia, Premature graying of hair, Hypogonadism |
OMIM:618681 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... |
ORPHA:171706 |
| Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Proteinuria, Unilateral renal agenesis, Ureteral agenes... |
ORPHA:411709 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis |
OMIM:300982 |
| Adnp Syndrome |
|
Sparse scalp hair, Inguinal hernia, Urinary incontinence, Aggressive behavior, Oral-pharyngeal dy... |
ORPHA:404448 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism |
ORPHA:2489 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Cleft palate |
OMIM:612370 |
| Robinow Syndrome |
|
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, Small fo... |
ORPHA:97360 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
| Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Esophageal... |
ORPHA:3157 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435660 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Cleft palate, Hydrocele testis, Increased serum testosterone level, Congenital a... |
ORPHA:96181 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... |
ORPHA:811 |
| Carney Complex |
|
Neoplasm of the stomach, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, L... |
ORPHA:1359 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Joint contracture, Flexion contracture, Hypogonadism |
OMIM:608540 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo... |
ORPHA:281090 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| Perlman Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Femoral hernia, High, narrow palate, Cryptorchidism, Abnorm... |
ORPHA:2849 |
| Mmep Syndrome |
|
Cryptorchidism |
ORPHA:3434 |
| Tonne-Kalscheuer Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Aggressive behavior, Shyness, Cryptorchidism, Velop... |
OMIM:300978 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Cryptorchidism, Arthrogryposis multiplex congenita |
OMIM:618766 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc... |
ORPHA:99826 |
| Fetal Akinesia Deformation Sequence 4 |
|
Cryptorchidism, Arthrogryposis multiplex congenita, High palate, Camptodactyly |
OMIM:618393 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Obesity, Pseudohypoparathyroidism, Renal hyp... |
ORPHA:464288 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate, Primary amenorrhea, Delayed puberty,... |
OMIM:147950 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni... |
ORPHA:456328 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De... |
OMIM:611590 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism, 3-Methylglutaric aciduria, Inguinal hernia |
OMIM:250951 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Sparse eyebrow, Cryptorchidism, Synophrys, Cleft palate, Disproporti... |
ORPHA:3063 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis, Obesity, Hypogonadism, Polydipsia |
OMIM:615994 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... |
OMIM:608709 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ... |
OMIM:612561 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Inguinal hernia, Small for gestational age, Highly arched eyebrow, Repetitive comp... |
ORPHA:352490 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Bicornuate... |
OMIM:615524 |
| 16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, ... |
ORPHA:261250 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Intestinal malrotation, Cryptorch... |
ORPHA:2970 |
| Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276556 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
| N Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:310465 |
| Isolated Hemihyperplasia |
|
Cryptorchidism, Inguinal hernia |
ORPHA:2128 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... |
OMIM:612462 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Fever, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pse... |
ORPHA:90790 |
| 46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
High, narrow palate, Premature ovarian insufficiency, Obesity |
OMIM:618124 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Weaver Syndrome |
|
Inguinal hernia, Cryptorchidism, Fine hair, Hydrocele testis, Overgrowth, Camptodactyly, Sparse h... |
OMIM:277590 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Synophrys, Obesity, Cleft palate,... |
ORPHA:254346 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavior, Macr... |
OMIM:156200 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Cryptorchidism, Inguinal hernia |
ORPHA:2958 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased seru... |
OMIM:604168 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, High-output con... |
ORPHA:231226 |
| Non-Distal Duplication 10Q |
|
Cryptorchidism, High palate |
ORPHA:1695 |
| Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Intracranial hemorrhage, Hyperplastic labia majora, Hypo... |
ORPHA:79318 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia, Oligo... |
ORPHA:2795 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| 2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Long eyelashes, Hypogonadism, Failure to thrive |
ORPHA:163693 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Micropenis, Flexion contracture, Hypospadias |
OMIM:618815 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Cryptorchidism, Foot joint contracture, Premature pubarche |
ORPHA:457205 |
| Macrocephaly/Autism Syndrome |
|
Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Coarse hair, Overgrowth, ... |
OMIM:605309 |
| X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Hypogonadism |
ORPHA:85283 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Cryptorchidism, Hypoplastic male external genitalia |
OMIM:618823 |
| Acrocallosal Syndrome |
|
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Tall stature |
ORPHA:36 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Bilateral cryptorchidism, ... |
ORPHA:457083 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Cryptorchidism, Synophrys, Increased body weight, Attention deficit hyperactivity di... |
ORPHA:589905 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
| Cofs Syndrome |
|
Arthrogryposis multiplex congenita, Hypogonadism, Camptodactyly of finger |
ORPHA:1466 |
| Distal Duplication 15Q |
|
Omphalocele, Anal atresia, Camptodactyly of finger, Cryptorchidism, High palate, Abnormality of f... |
ORPHA:1707 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... |
OMIM:616860 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435651 |
| Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Widow's peak, Hypospadias |
OMIM:101805 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... |
OMIM:158330 |
| Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Malignant hyperthermia, Hernia, Failure to thrive |
ORPHA:2053 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypospadias, Anal atresia |
ORPHA:1381 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... |
ORPHA:231214 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Abnormality of the tongue muscle, Cryptorchidism, Abnormality of con... |
ORPHA:370968 |
| Cednik Syndrome |
|
Nephrotic syndrome, Hypogonadism, Proteinuria |
ORPHA:66631 |
| Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive |
ORPHA:370924 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Hypogonadism |
OMIM:251240 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... |
ORPHA:273 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive |
OMIM:615597 |
| Lead Poisoning |
|
Decreased female libido, Small for gestational age, Anorexia, Abnormality of the menstrual cycle,... |
ORPHA:330015 |
| Prieto Syndrome |
|
Cryptorchidism, Inguinal hernia |
OMIM:309610 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Hypospadias, Bilateral cryptorchidism, Agitation, Micropenis |
OMIM:618840 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Failure to thrive, Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated intere... |
OMIM:617788 |
| Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia |
OMIM:605231 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Furrowed tongue, Low posterior hairline, High palate |
ORPHA:1387 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder |
ORPHA:261102 |
| Stt3A-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive |
ORPHA:370921 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... |
ORPHA:79085 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, High palate, Attention deficit hyperactivity disorder, Shawl scrotum, Micropenis,... |
OMIM:615433 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Proximal Xq28 Duplication Syndrome |
|
Cryptorchidism, Hernia of the abdominal wall, Hypospadias |
ORPHA:1762 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
| Ring Chromosome 21 Syndrome |
|
Azoospermia, Diabetes insipidus, Infertility, Amenorrhea |
ORPHA:1445 |
| Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Camptodactyly, Decreased body weight |
OMIM:619420 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Cleft palate |
OMIM:614838 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
| Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... |
OMIM:103580 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Kleefstra Syndrome 1 |
|
Hypospadias, Aggressive behavior, Protruding tongue, Cryptorchidism, Synophrys, Obesity, Macroglo... |
OMIM:610253 |
| Li-Campeau Syndrome |
|
Cryptorchidism, Micropenis, Hypothyroidism, Thick eyebrow, Hypertrichosis |
OMIM:619189 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Hirsutism, Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... |
OMIM:201750 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
| Birk-Aharoni Syndrome |
|
Cryptorchidism, Micropenis, Failure to thrive, Thick eyebrow |
OMIM:620071 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Testicular atrophy, Intestinal malrotation, Congenital diaphragmatic hernia |
OMIM:601163 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Inguinal hernia, Supernumerary nipple, Precocious puberty, Cryptorchidism, Attention deficit hype... |
OMIM:619243 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
| Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism |
OMIM:215470 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Cryptorchidism, Inc... |
OMIM:614736 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Enuresis, Co... |
OMIM:613670 |
| Tatton-Brown-Rahman Syndrome |
|
Aggressive behavior, Cryptorchidism, Obesity, Proportionate tall stature, Umbilical hernia, Neuro... |
ORPHA:404443 |
| Weaver Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Fine hair, Tall st... |
ORPHA:3447 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, Ab... |
OMIM:209900 |
| Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Obesity |
OMIM:245800 |
| Congenital Myopathy 19 |
|
Cryptorchidism, Congenital contracture, High palate, Dysphagia, Hydronephrosis |
OMIM:618578 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondary amenorrhea, Polycy... |
OMIM:268020 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Low anterior hairline, Low posterior hairline, Truncal ... |
ORPHA:73272 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Omphalocele, Cryptorchidism, Uterus didelphys, I... |
ORPHA:1756 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vag... |
OMIM:615989 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Cryptorchidism, Umbilical hernia, High, narrow palate |
OMIM:273390 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Premature ovarian insufficiency, Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
| Distal Deletion 10P |
|
Hypoplasia of penis, Cryptorchidism, Cleft palate, Polycystic ovaries, Ectopic anus, Anal atresia |
ORPHA:1580 |
| Preeclampsia |
|
Small for gestational age, Proteinuria, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Abnormal repetitive mannerisms, Generalized hirsutism, Hypothyro... |
ORPHA:1606 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Hypospadias, Cryptorchidism, Synophrys, Frontal upsweep of hair, Decreased testicular size |
OMIM:300997 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Horseshoe kidney, Increased mean corpuscular volume,... |
OMIM:612562 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Overweight, Cryptorchidism, High palate, Delayed puberty |
ORPHA:486815 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Midshaft hypospadias, Long eyelashes, High palate, Anter... |
ORPHA:2863 |
| Filippi Syndrome |
|
Cryptorchidism, Sparse hair, Decreased body weight, Ambiguous genitalia, Frontal hirsutism, Hyper... |
OMIM:272440 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| Fetal Akinesia Deformation Sequence 2 |
|
Cryptorchidism, Flexion contracture, High palate, Cleft palate |
OMIM:618388 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Aggressive behavior, Hypogonadism, Dysphagia, Diabetes insipidus |
ORPHA:97229 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Aggressive behavior, Cryptorchidism, Patchy alopecia, High palate, Decre... |
ORPHA:85279 |
| Microcephaly 27, Primary, Autosomal Dominant |
|
Cryptorchidism, Micropenis |
OMIM:619180 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aggressive behavior, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Attention ... |
OMIM:301039 |
| Autosomal Recessive Amelia |
|
Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:1027 |
| Rudiger Syndrome |
|
Inguinal hernia, Ureterovesical stenosis, Flexion contracture, Ovarian cyst, Bicornuate uterus, M... |
OMIM:268650 |
| 46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... |
OMIM:618901 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Small for gestational age, Cryptorchidism, High palate, Hypogonadism |
ORPHA:85323 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Nail dystrophy, Oral leukoplakia |
OMIM:618165 |
| Rin2 Syndrome |
|
Sparse scalp hair, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidis... |
ORPHA:217335 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone concentra... |
OMIM:617872 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Hypogonadism, Abnormali... |
ORPHA:1173 |
| Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism, Facial hypertrichosis, Failure to thrive, Hypertrich... |
OMIM:600118 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism |
OMIM:616816 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
| Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of ... |
ORPHA:86839 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Lig4 Syndrome |
|
Small for gestational age, Cryptorchidism, Low anterior hairline, Type II diabetes mellitus, Micr... |
OMIM:606593 |
| 49,Xxxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology, Shyness, Cryptorchidism, C... |
ORPHA:96264 |
| Fg Syndrome 3 |
|
Hyperactivity, Cryptorchidism, Pyloric stenosis, Fine hair, Frontal upsweep of hair, Sparse hair,... |
OMIM:300406 |
| Intellectual Developmental Disorder, X-Linked 93 |
|
Cryptorchidism |
OMIM:300659 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:88637 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Failure to thrive, Femoral hernia, Highly arched eyebro... |
ORPHA:96147 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
| Ichthyosis, X-Linked |
|
Cryptorchidism, Testicular neoplasm |
OMIM:308100 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Nephrolithiasis, Congenital megaureter, Vesicoureteral reflux, Microsc... |
ORPHA:617 |
| Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
| Hemochromatosis, Type 3 |
|
Impotence, Hypogonadotropic hypogonadism, Amenorrhea |
OMIM:604250 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Lipoatrophy, Cryptorchidism, Congenital pyloric atresia, Low posterior ha... |
ORPHA:2617 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... |
OMIM:615873 |
| Frasier Syndrome |
|
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... |
OMIM:136680 |
| Pituitary Gigantism |
|
Premature pubarche, Tall stature, Elevated circulating growth hormone concentration, Increased ci... |
ORPHA:99725 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, ... |
OMIM:618504 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis |
ORPHA:2772 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Abnormal hair w... |
ORPHA:2872 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorch... |
OMIM:614732 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Impotence, Diabetes mellitus, Hypogonadism |
ORPHA:79230 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Perianal abscess, Cryptorchidism, Widow's peak, Micropenis, Thick eyebrow |
OMIM:614684 |
| Aminopterin Syndrome Sine Aminopterin |
|
Inguinal hernia, Highly arched eyebrow, Cryptorchidism, Cleft palate, High palate, Frontal upswee... |
OMIM:600325 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cryptorchidism, Hypospadias |
OMIM:620135 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Cryptorchidism, Failure to thrive, Dysphagia |
OMIM:618958 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Hypogonadism, Absence of pubertal development |
OMIM:615267 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Cryptorchidism, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy |
ORPHA:1192 |
| Majeed Syndrome |
|
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl... |
OMIM:609628 |
| Branchial Arch Syndrome, X-Linked |
|
Cryptorchidism, High palate, High, narrow palate |
OMIM:301950 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Inguinal hernia, Hypothyroidism |
OMIM:613970 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, St... |
OMIM:618917 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
| Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Knee flexion contracture, Disproportionate tall stature, Hypogonadism, Delayed p... |
OMIM:606631 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased body weight, Hepatic ... |
ORPHA:264580 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias |
OMIM:616910 |
| 46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Aggressive behavior,... |
ORPHA:261494 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... |
ORPHA:525731 |
| Bardet-Biedl Syndrome 3 |
|
Obesity, External genital hypoplasia, Renal hypoplasia |
OMIM:600151 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea |
OMIM:264270 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism, Insulin-resistant diabetes ... |
ORPHA:293967 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Oligozoospermia... |
ORPHA:91351 |
| Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism, Dysphagia |
ORPHA:638 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Overweight, Self-mutilation, High palate, ... |
ORPHA:457240 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multilobulated spleen, Renal hy... |
OMIM:601186 |
| Interstitial Cystitis |
|
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur... |
ORPHA:37202 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Internal hem... |
ORPHA:335 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Cryptorchidism, Flexion contracture, Arthrogryposis multiplex congenit... |
OMIM:618484 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Cryptorchidism, Hypothyroidism, Stage 5 chronic kidney ... |
OMIM:617575 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Small for gestational age |
ORPHA:90050 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Arthrogryposis multiplex congenita, Flexion contracture, High palate |
ORPHA:178148 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrhea, Primary am... |
OMIM:157640 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Werner Syndrome |
|
Sparse scalp hair, Lipodystrophy, Lipoatrophy, Abnormal hair whorl, Decreased fertility, Secondar... |
ORPHA:902 |
| Omodysplasia 2 |
|
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Cleft palate, Clitoral hypoplasia, La... |
OMIM:164745 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... |
OMIM:119500 |
| Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia |
ORPHA:93328 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
High, narrow palate, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Abn... |
ORPHA:444002 |
| Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, Mi... |
ORPHA:319213 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Dy... |
ORPHA:79083 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Premature ... |
ORPHA:280679 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism |
ORPHA:123 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Small for gestational age, Pure red cell aplasia, Erythroid ... |
ORPHA:124 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Urinary urgency, Decreased serum testosterone concentration |
OMIM:609195 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Flexion contract... |
ORPHA:500055 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Elevated circulating par... |
ORPHA:439822 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:231393 |
| German Syndrome |
|
Abnormal eyebrow morphology, Camptodactyly of finger, Cryptorchidism, Synophrys, High palate, Dys... |
ORPHA:2077 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:620270 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased mean cor... |
OMIM:127550 |
| Galactokinase Deficiency |
|
Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypogonadism, Hyper... |
ORPHA:79237 |
| Distal Duplication 18Q |
|
Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern, Cryptorchidism, High palate,... |
ORPHA:1716 |
| Mcdonough Syndrome |
|
Cryptorchidism, Synophrys, Cachexia |
ORPHA:2471 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Hypogonadotropic hypogonad... |
OMIM:612079 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Diabetes mellitus... |
ORPHA:3220 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Cryptorchidism, M... |
OMIM:615381 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Obsessive-compulsive trait, Hypothyroidism, Attention deficit hyperactivity disorder |
OMIM:619908 |
| Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Inguinal hernia, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Com... |
ORPHA:485350 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Delayed puberty |
OMIM:615270 |
| Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Attention deficit hyperactivity disorder |
ORPHA:461 |
| Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena... |
OMIM:609757 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Hypospadias, Microcytic anemia, Cryptorchidism, Flexion contracture, Bruising ... |
ORPHA:98791 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Dysphagia... |
OMIM:222300 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Renal hypoplasia, Shawl scrotum |
ORPHA:2256 |
| Abruzzo-Erickson Syndrome |
|
Cryptorchidism, Hypospadias, Coronal hypospadias, Cleft palate |
ORPHA:921 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:2348 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis |
OMIM:619471 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Multiple renal cysts, Vesicoureter... |
ORPHA:1166 |
| Man1B1-Cdg |
|
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes, ... |
ORPHA:397941 |
| Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Thick eyebrow, Hyperthyroidism, Decreased response to growth hormone stimulat... |
ORPHA:488632 |
| Distal Monosomy 7Q36 |
|
Cryptorchidism, Hypoplasia of penis, Hernia, Cleft palate |
ORPHA:1636 |
| Alstrom Syndrome |
|
Alopecia, Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormo... |
OMIM:203800 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat... |
ORPHA:79240 |
| Silver-Russell Syndrome 3 |
|
Unilateral cryptorchidism, Small for gestational age, Elbow contracture, Decreased body weight, A... |
OMIM:616489 |
| Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Rena... |
OMIM:613390 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir... |
OMIM:300942 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Obesity, Low posterior hairline |
OMIM:300577 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Premature ovarian insufficiency, Abnormality of the thyroid gland, Hypogonadis... |
OMIM:609286 |
| Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Cryptorchidism, Synophrys, Horseshoe kidney, Long eyelashes, High palate, Thin eyebrow, Hypoplast... |
ORPHA:502434 |
| Chromosome 16Q22 Deletion Syndrome |
|
Small for gestational age, Hypospadias, Highly arched eyebrow, Cryptorchidism, High palate, Failu... |
OMIM:614541 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
| Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, Premature graying of hair, Hig... |
ORPHA:769 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, High palate, ... |
ORPHA:251071 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom... |
OMIM:277410 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Lipodystrophy, Malabsorption, Delayed p... |
ORPHA:168569 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Overgrowth, Unilateral cryptorchidism, Tall stature, Large for gestational age |
ORPHA:137634 |
| 3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Failure to t... |
OMIM:610198 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism |
ORPHA:228390 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonad... |
OMIM:614231 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Cleft palate, Hypoplasia of the uterus, ... |
OMIM:309801 |
| Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
| Carpenter Syndrome 1 |
|
Omphalocele, Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesit... |
OMIM:201000 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, Uterus di... |
OMIM:618820 |
| Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr... |
OMIM:617718 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Long eyelashes, Hypoplastic female external genitalia |
OMIM:618577 |
| Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Cryptorchidism |
OMIM:619595 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... |
OMIM:300219 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Ov... |
OMIM:617796 |
| Ruvalcaba Syndrome |
|
Cryptorchidism, Inguinal hernia, Delayed puberty |
OMIM:180870 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Cryptorchidism, Micropenis, Flexion contracture |
OMIM:613156 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidism, High, na... |
ORPHA:3051 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Synophrys, Low posterior hairline, Hyp... |
ORPHA:2983 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Cleft soft palate, Intestinal malrotation, Flexion contracture, Renal hypoplasia, Abdom... |
OMIM:619321 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
| 8Q22.1 Microdeletion Syndrome |
|
Sparse eyelashes, Camptodactyly of finger, Highly arched eyebrow, Abnormal hair pattern, Sparse e... |
ORPHA:178303 |
| Cystic Fibrosis |
|
Absent vas deferens, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Steatorrhea... |
ORPHA:586 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Arthrogryposis multiplex congeni... |
OMIM:616258 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Small for gestational age, Elevated circulating luteinizing hormone level, Highly ar... |
OMIM:618419 |
| Wt Limb-Blood Syndrome |
|
Cryptorchidism, Joint contracture of the 5th finger |
OMIM:194350 |
| Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
| King-Denborough Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Malignant hyperthermia, High palate, Failure to thrive |
OMIM:619542 |
| Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism, Inguinal hernia |
ORPHA:2856 |
| Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Mic... |
OMIM:617516 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ... |
ORPHA:189427 |
| Diabetic Embryopathy |
|
Ureteral duplication, Cryptorchidism, Cleft palate, Micropenis, Abnormal morphology of female int... |
ORPHA:1926 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, External genital hypoplasia, Cryptorchidism, Atrichia... |
ORPHA:1867 |
| Oslam Syndrome |
|
Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Laron Syndrome |
|
Abnormality of the endocrine system, Truncal obesity, Hypoplasia of penis, Delayed puberty |
ORPHA:633 |
| Orofaciodigital Syndrome Type 4 |
|
Monorchism, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Rectal atr... |
ORPHA:2753 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Sparse scalp hair, Hypospadias, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Cryptorc... |
OMIM:619293 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Celiac disease, Primary adrenal i... |
ORPHA:3143 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention deficit hyperactivity di... |
OMIM:617914 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Synophrys, High palate, Hypothyroidism, Bifid uvula, Self-mutilation, Oppositiona... |
OMIM:607872 |
| Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Obesity |
ORPHA:99976 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Cryptorchidism, Alopecia of scalp |
OMIM:210700 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Joint contr... |
OMIM:175700 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Hepat... |
ORPHA:400 |
| Rahman Syndrome |
|
Cryptorchidism, High anterior hairline, Camptodactyly |
OMIM:617537 |
| Radio-Tartaglia Syndrome |
|
Thick eyebrow, Impulsivity, Aggressive behavior, Precocious puberty, Highly arched eyebrow, Synop... |
OMIM:619312 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Galactosemia I |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Gala... |
OMIM:230400 |
| Boomerang Dysplasia |
|
Omphalocele, Cryptorchidism, Decreased response to growth hormone stimulation test |
ORPHA:1263 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Clef... |
OMIM:615849 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Reduced circulating prolactin concentration, Retrograde ejaculation, Hi... |
OMIM:223360 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Hypospadias, Ankle flexion contracture, Cryptorchidism, Knee flexion contracture, Self-injurious ... |
ORPHA:435938 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Anorexia, Precocious puberty, Ovarian neoplasm, Weight lo... |
ORPHA:370348 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Hypogonadism, Infertility, Oligomenorrhea, Dysphagia, Type I diabetes mellitus, Type II... |
ORPHA:412057 |
| Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Cleft palate |
OMIM:601349 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Lipoatrophy, Polycystic ovaries, Hypertension, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... |
ORPHA:95427 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Frontal upsweep of hair, Hydronephrosis |
OMIM:619797 |
| 1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Submucous cleft ... |
ORPHA:250999 |
| Castleman Disease |
|
Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circula... |
ORPHA:160 |
| Cri-Du-Chat Syndrome |
|
Hyperactivity, Inguinal hernia, Hypospadias, Small for gestational age, Aggressive behavior, Cryp... |
OMIM:123450 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Small for gestational age, Thin eyebrow, Supernumerary nipple |
OMIM:617635 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Abnormal hair pattern, Highly arched... |
ORPHA:2083 |
| Acrodysostosis |
|
Hypogonadism, Cryptorchidism, Irregular menstruation, Abnormality of female external genitalia |
ORPHA:950 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Dysmenorrhea, Acroosteolysis of distal phalanges (feet),... |
ORPHA:280365 |
| Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the... |
ORPHA:314473 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Small scrotum, Cryptorchidism, Synophrys, Hirsutism, Thick eyebrow |
ORPHA:1970 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Cryptorchidism, Joint contracture |
OMIM:615419 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Cleft palate |
OMIM:164180 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... |
ORPHA:97214 |
| Autosomal Dominant Centronuclear Myopathy |
|
Urinary incontinence, Large for gestational age, Cryptorchidism, Pyloric stenosis, Malignant hype... |
ORPHA:169189 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age |
OMIM:240900 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Polycystic ovaries |
OMIM:142330 |
| Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
| Urofacial Syndrome 1 |
|
Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruction, Enuresis, Hydronephrosis |
OMIM:236730 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... |
ORPHA:96179 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, High palate, Obesity |
OMIM:300209 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Uncombable hair... |
ORPHA:3082 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Cryptorchidism |
ORPHA:466926 |
| Allan-Herndon-Dudley Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Abnormality of thyroid physiology, Crypt... |
ORPHA:59 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Low anterior hairline, Macroglo... |
ORPHA:369891 |
| Coffin-Siris Syndrome 2 |
|
Sparse scalp hair, Hyperactivity, Thick eyebrow, Inguinal hernia, Cryptorchidism, Low anterior ha... |
OMIM:614607 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Cryptorchidism, Femoral hernia, High palate |
OMIM:620316 |
| Malakoplakia |
|
Fever, Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflam... |
ORPHA:556 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Hypogonadism |
OMIM:302950 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
| Non-Distal Duplication 13Q |
|
Abnormal eyelash morphology, Cryptorchidism, Synophrys, High palate, Hernia, Thick eyebrow |
ORPHA:1702 |
| Ruijs-Aalfs Syndrome |
|
Lipodystrophy, Elbow flexion contracture, Premature graying of hair, Hypogonadism, Decreased body... |
OMIM:616200 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Skin-picking, Abnormal temper ta... |
ORPHA:163681 |
| 11P15.4 Microduplication Syndrome |
|
Synophrys, Obesity, Highly arched eyebrow, Aggressive behavior |
ORPHA:300305 |
| Seckel Syndrome 5 |
|
Hypospadias, Cryptorchidism, Cleft palate, High palate, Enamel hypoplasia, Clitoral hypertrophy |
OMIM:613823 |
| Blepharonasofacial Malformation Syndrome |
|
Inguinal hernia, Abnormal eyelash morphology, Cryptorchidism, Cleft palate, Low posterior hairlin... |
ORPHA:1252 |
| Alexander Disease |
|
Diabetes mellitus, Hypothermia, Precocious puberty, Self-injurious behavior, High palate, Dysphag... |
ORPHA:58 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Re... |
OMIM:616541 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Obesity, Anteriorly... |
OMIM:618653 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased r... |
ORPHA:177907 |
| Fetal Hydantoin Syndrome |
|
Bifid scrotum, Cryptorchidism, Cleft palate, Low posterior hairline, Coarse hair, Hernia |
ORPHA:1912 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Nephrolithiasis, Obesity, Increased circulating ACTH level, Abdominal obesity,... |
OMIM:219090 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cryptorc... |
ORPHA:1145 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Synophrys, Proximal renal tubular acidosis, F... |
OMIM:615824 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia, Elevated urinary dopamine level, Hyperinsulinemia, Retrograde ejaculation, Nocturia |
ORPHA:230 |
| Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Aggressive behavior, Large for gestational a... |
OMIM:619075 |
| Intellectual Disability-Strabismus Syndrome |
|
Hyperactivity, Failure to thrive, Hypospadias, Decreased response to growth hormone stimulation t... |
ORPHA:363528 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Long eyelashes, Cleft palate |
OMIM:615502 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Synophrys, Obesity, Narrow palate, Self-injur... |
OMIM:616078 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Flexion contr... |
ORPHA:75496 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Hypospadias, Limb joint contracture, Cryptorchidism, Synophrys, Low anterior hairline, High palat... |
OMIM:300004 |
| Schuurs-Hoeijmakers Syndrome |
|
Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Synophrys, Low anterior hairline, Lon... |
OMIM:615009 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Maternal diabetes, Cryptorchidism, Long penis, Cleft palate, Polycystic kidney d... |
ORPHA:1988 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
High palate, Inguinal hernia, Hypogonadotropic hypogonadism, Cleft palate |
ORPHA:1135 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Cryptorchidism, Ambiguous genitalia |
ORPHA:452 |
| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc... |
ORPHA:2470 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Gorlin Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
ORPHA:377 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hyperactivity, Lactose intolerance, Hypospadias, Large for gestational age, Cryptorch... |
ORPHA:457485 |
| Aarskog-Scott Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Cleft palate, Attention deficit hyperac... |
ORPHA:915 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, ... |
OMIM:615866 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Hypospadias, Highly arched eyebrow, Cryptorchidism, Umbilical hernia, Abnormal... |
ORPHA:500159 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Cryptorchidism, Renal hypoplasia, Fine hair, Delayed puberty, Sparse h... |
OMIM:616817 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Fever, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggress... |
ORPHA:293987 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Aminoaciduria, Hypogonadism, Hypoplastic nipples |
OMIM:273400 |
| Deafness-Hypogonadism Syndrome |
|
Abnormal spermatogenesis, Hypergonadotropic hypogonadism, Delayed puberty |
ORPHA:90646 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Obesity... |
ORPHA:251004 |
| Heart-Hand Syndrome Type 2 |
|
Cryptorchidism, Low posterior hairline |
ORPHA:1350 |
| Emanuel Syndrome |
|
Inguinal hernia, Multiple joint contractures, Unilateral renal agenesis, Congenital diaphragmatic... |
ORPHA:96170 |
| Chromosome 18P Deletion Syndrome |
|
Small for gestational age, Cryptorchidism, Gonadal dysgenesis, High palate, Micropenis, Decreased... |
OMIM:146390 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Abnormal salivary gland morphology, Nephritis, E... |
ORPHA:2298 |
| Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Cryptorchidism, Failure to thrive |
ORPHA:88639 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Attention deficit hyperactivity disorder, Labial hypoplasia, ... |
OMIM:620073 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Cryptorchidism |
ORPHA:67044 |
| X-Linked Intellectual Disability, Pai Type |
|
Hydrocele testis, Cryptorchidism, Inguinal hernia |
ORPHA:85322 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Telangiectasia of the skin, Polycystic ovaries, Aplasia/Hypoplasia of the thym... |
ORPHA:100 |
| Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Flexion contracture, Low anterior hairline, Micropenis, Decreased ... |
OMIM:615663 |
| Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Synophrys, Abnormality of the u... |
ORPHA:819 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... |
OMIM:616113 |
| Xq12-Q13.3 Duplication Syndrome |
|
Cryptorchidism, Bulimia, Agitation, Decreased serum insulin-like growth factor 1 |
ORPHA:314389 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Pyelonephritis, Oligozoospermia, Keloids, Nephritis |
OMIM:314300 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Ochoa Syndrome |
|
Renal insufficiency, Urinary incontinence, Cryptorchidism, Urethral obstruction, Vesicoureteral r... |
ORPHA:2704 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Oral leukoplakia, Testicular atrophy, Nail dystrophy |
OMIM:613987 |
| Short Stature-Micrognathia Syndrome |
|
Small scrotum, Cryptorchidism, Cleft palate, High palate, Decreased body weight, Micropenis, Fail... |
OMIM:617164 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Bilateral cryptorchidism, Pyloric stenosis, High palate |
ORPHA:314575 |
| Qazi-Markouizos Syndrome |
|
Cryptorchidism, High, narrow palate |
ORPHA:3010 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Cryptorchidism, Umbilical hernia, Low posterior hairline, Shawl scrotum |
ORPHA:1778 |
| Distal Deletion 12Q |
|
Ectopic kidney, High, narrow palate, Proportionate tall stature, Vesicoureteral reflux, Micropeni... |
ORPHA:96149 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Aminoaciduria, Diabetes mellitus |
OMIM:249270 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Small scrotum, Cryptorchidism, Microphallus, Micropenis, Abnormal repetitive manne... |
OMIM:300486 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Male ... |
ORPHA:2075 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Cryptorchidism, High, narrow palate, Hydronephrosis, Hypogonadism, High palate, Attention deficit... |
OMIM:612513 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Inguinal hernia, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Umbilic... |
ORPHA:329224 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Renal hypoplasia, Umbili... |
ORPHA:85321 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism |
ORPHA:404451 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Inguinal hernia, Hypospadias, Supernumerary nipple, Aggressive behavior, Cryptorchidism, Contract... |
OMIM:618109 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Hypogonadism, Absent axillary hai... |
ORPHA:2269 |
| Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism |
OMIM:218550 |
| Adrenoleukodystrophy |
|
Alopecia, Urinary incontinence, Primary adrenal insufficiency, Impotence, Hypogonadism, Attention... |
OMIM:300100 |
| Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Esophageal stric... |
OMIM:617053 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Low posterior hairline |
ORPHA:2701 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Thick hair, Aplasia/Hypoplasia of the tongue, Abnormal eyelash morp... |
ORPHA:193 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... |
OMIM:146255 |
| Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hypospadias, Pyloric stenosis, Horseshoe kidney |
OMIM:218350 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Cryptorchidism, Micropenis |
OMIM:612447 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Inguinal hernia, Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Abnormality of the scr... |
ORPHA:2505 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Flexion contracture, Furrowed t... |
OMIM:300534 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Aggressive behavior, Cryptorchidism, Self-mutilation, Narrow palate, Micropenis, Slender build, H... |
ORPHA:364028 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Sparse or ... |
ORPHA:217346 |
| Osteoglosphonic Dysplasia |
|
Cryptorchidism, Inguinal hernia, Failure to thrive in infancy |
ORPHA:2645 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... |
ORPHA:83628 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Highly arched eyebrow, Congenital ... |
ORPHA:2322 |
| Suleiman-El-Hattab Syndrome |
|
Thick eyebrow, Inguinal hernia, Highly arched eyebrow, Cryptorchidism, Synophrys, High palate, Fr... |
OMIM:618950 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Camptodactyly of finger, Cryptorchidism, Flexion contracture, 3-Methylglutaconic aci... |
ORPHA:1194 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Insulin-resistant diabetes mellitus, Lipodystrophy, Oligomenorrhea |
OMIM:613877 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Prolonged bleeding following procedure, Nephrocalcinosis, Hepatic steatosis, Tubuloin... |
ORPHA:79259 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Chops Syndrome |
|
Curly hair, Thick hair, Cryptorchidism, Synophrys, High, narrow palate, Obesity, Horseshoe kidney... |
OMIM:616368 |
| 8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Hypogonadism, Hi... |
ORPHA:251066 |
| Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Pyloric stenosis, Birth length greater than 97th percentile, Flexion contracture,... |
OMIM:310400 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Hypospadias, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Dec... |
OMIM:618336 |
| Trisomy 13 |
|
Abnormal eyelash morphology, Cryptorchidism, High, narrow palate, Abnormality of the ureter, Clef... |
ORPHA:3378 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Protein-losing enteropathy, Camptodactyly, Decreased circulating T4 concentration... |
OMIM:608104 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular syst... |
ORPHA:79086 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Cryptorchidism, Vesicoureteral reflux, Anteri... |
OMIM:617159 |
| Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Absent nipple, Highly arched eyebrow, Cryptorchidism, Male urethral meatus stenosis, Hypoplastic ... |
OMIM:616001 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Synophrys, Obesity, Malignant hyperthermia, Congenital hypothyroidism, Horizontal eyebrow |
ORPHA:352530 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Small for gestational age, D... |
ORPHA:125 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Synophrys, Obesity |
OMIM:300803 |
| Scarf Syndrome |
|
Bifid scrotum, Inguinal hernia, Cryptorchidism, Perineal hypospadias, Low posterior hairline, Hyp... |
ORPHA:3134 |
| Vacterl/Vater Association |
|
Bifid scrotum, Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Conge... |
ORPHA:887 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroi... |
OMIM:101800 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal a... |
ORPHA:2538 |
| Ring Chromosome 12 Syndrome |
|
Small for gestational age, Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterine le... |
ORPHA:1439 |
| Tyshchenko Syndrome |
|
Thick hair, Supernumerary nipple, Cryptorchidism, High, narrow palate, Low anterior hairline, Nar... |
OMIM:615102 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cryptorchidism, Micropenis, Small for gestational age, Dysphagia |
OMIM:619847 |
| Snijders Blok-Fisher Syndrome |
|
Cryptorchidism |
OMIM:618604 |
| Hatipoglu Immunodeficiency Syndrome |
|
Inguinal hernia, Fair hair, Hypospadias, Cryptorchidism, Premature graying of hair, Failure to th... |
OMIM:620331 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia, Failure to thrive, Lacticaciduria, Methylmalonic aciduria |
OMIM:245400 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Synophrys, Intestinal malrotation, Ectopic kidney |
ORPHA:401935 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Impulsivity, Ectopic kidney, Maternal diabetes, Crypto... |
ORPHA:3027 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, H... |
OMIM:262190 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Hypothermia, Flexion contracture, Urinary urgency, Impotence, Urinary retention, Erectile dysfunc... |
ORPHA:99027 |
| Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Cryptorchidism, Elbow flexion contracture, Knee flexion contracture, Camptodacty... |
OMIM:108120 |
| Bresek Syndrome |
|
Alopecia, Aganglionic megacolon, Cryptorchidism, Renal hypoplasia, Cleft palate, Vesicoureteral r... |
ORPHA:85284 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, High palate, Failure to thrive |
ORPHA:2115 |
| Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Ana... |
OMIM:100100 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Horseshoe kidney, Low... |
OMIM:300860 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hypospadias, Repetitive compulsive behavior, Cryptorchidism, Bruxism, High palate, Dysphagia, Dec... |
OMIM:300260 |
| Triploidy |
|
Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft pala... |
ORPHA:3376 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Impulsivity, Supernumerary nipple, Cryptorchidism, Synophrys, Low posterior hairline, Self-injuri... |
OMIM:618929 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
OMIM:151660 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
ORPHA:1237 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Synophrys |
ORPHA:1295 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
| Noonan Syndrome 8 |
|
Cryptorchidism, Failure to thrive, Curly hair, Large for gestational age |
OMIM:615355 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula |
ORPHA:3016 |
| Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Decreased fertility, Narrow palate, Obesity, Macrogloss... |
ORPHA:870 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Cryptorchidism, Methylmalonic aciduria, Failure to thrive, Homocystinuria |
OMIM:614857 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorch... |
ORPHA:2311 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate, Hypogonadism, Sparse hair, Failure to t... |
ORPHA:2316 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypothermia, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormality... |
ORPHA:438213 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Nephrolithiasis, Oligozo... |
ORPHA:2067 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Synophrys, Obesity, Long eyelashes, High palate, Lipoma, Thick eyebrow |
ORPHA:480907 |
| Smith-Kingsmore Syndrome |
|
Cryptorchidism, Umbilical hernia, Curly hair, Large for gestational age |
OMIM:616638 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Hydronephrosis |
OMIM:618060 |
| Fg Syndrome Type 1 |
|
Inguinal hernia, Hypospadias, Progressive flexion contractures, Abnormal large intestine morpholo... |
ORPHA:93932 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Absent penis, Vesicoureteral reflux, Bladder exs... |
ORPHA:322 |
| Cockayne Syndrome Type 2 |
|
Scarring, Cryptorchidism, Flexion contracture, Male hypogonadism, Enamel hypoplasia |
ORPHA:90322 |
| Exudative Vitreoretinopathy 4 |
|
Osteopenia, Vitreous hemorrhage |
OMIM:601813 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... |
OMIM:619518 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Impulsivity, Aggressive behavior, Cryptorchidism, Narrow palate, High palate, Dysphag... |
OMIM:619435 |
| Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, D... |
ORPHA:494344 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
| Ohdo Syndrome |
|
Sparse eyebrow, Cryptorchidism, Small scrotum, Proteinuria |
OMIM:249620 |
| Myotonic Dystrophy 2 |
|
Frontal balding, Oligozoospermia, Hypogonadism, Type II diabetes mellitus, Elevated circulating f... |
OMIM:602668 |
| Marinesco-Sjögren Syndrome |
|
Hypogonadism, External genital hypoplasia |
ORPHA:559 |
| 46,Xx Sex Reversal 1 |
|
Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:400045 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypospadias, Cryptorchidism, Submucous cleft hard palate, Head-banging, Horseshoe kidney, Attenti... |
OMIM:619103 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... |
ORPHA:1809 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryp... |
OMIM:227650 |
| Noonan Syndrome 5 |
|
Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair |
OMIM:611553 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, 3-Methylglutaconic aciduria, Delayed puberty |
ORPHA:496790 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Delayed puberty, Micropenis |
OMIM:619718 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Reduced subcutaneous adipose tissue, Inguinal hernia, Hypospadias, Sparse eyelashe... |
OMIM:613026 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Hypospadias, Hypothermia, Aggressive behavior, Flexion contracture,... |
ORPHA:17 |
| Immunodeficiency 61 |
|
Malabsorption, Obesity, Colon cancer, Attention deficit hyperactivity disorder, Recurrent fever |
OMIM:300310 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Synophrys, Primary a... |
OMIM:603457 |
| Oculoskeletodental Syndrome |
|
Small for gestational age, Cryptorchidism, Low anterior hairline, Hypercalciuria, Elbow flexion c... |
OMIM:618440 |
| Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior, Dysphagia, Testicula... |
OMIM:300322 |
| Aniridia-Absent Patella Syndrome |
|
Cryptorchidism, Inguinal hernia |
ORPHA:1069 |
| Riboflavin Deficiency |
|
Dicarboxylic aciduria, Hypothermia |
OMIM:615026 |
| Baraitser-Winter Syndrome 1 |
|
Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Micropenis, Failure to thrive |
OMIM:243310 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Cryptorchidism, Flexion contracture, Aggressive behavior |
OMIM:608093 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypothyroidism, Diabetes mellitus, Hypogonadism, Dysphagia |
ORPHA:98673 |
| Lig4 Syndrome |
|
Hypoplasia of penis, Malabsorption, Cryptorchidism, Low anterior hairline, Type II diabetes melli... |
ORPHA:99812 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Abnormality of the parathyroid gland, Cleft palate |
ORPHA:3429 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Reduced radioactive iodine uptake, Hypothermia, Elevated circulating thyroid-stimulating hormone ... |
ORPHA:90673 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Midgut malrotation, Cleft palate, Delaye... |
ORPHA:2326 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
| Macs Syndrome |
|
Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Urethral stenosis, High... |
OMIM:613075 |
| Multifocal Atrial Tachycardia |
|
Cryptorchidism, Hypothyroidism |
ORPHA:3282 |
| Pituitary Apoplexy |
|
Fever, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Red... |
ORPHA:95613 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Alopecia, Hypospadias, Supernumerary nipple |
ORPHA:3224 |
| Trisomy 1Q |
|
Omphalocele, Multicystic kidney dysplasia, Small scrotum, Camptodactyly of finger, Congenital dia... |
ORPHA:261344 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Cryptorchidism, Cleft palate, Umbilical hernia, Failure to thrive, Bifid uvula |
OMIM:612938 |
| Warburg Micro Syndrome 2 |
|
Small scrotum, Cryptorchidism, Flexion contracture, Low anterior hairline, Hypoplastic labia majo... |
OMIM:614225 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Malabsorption, Cryptorchidism, Pyloric stenosis, Prima... |
ORPHA:912 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Spa... |
ORPHA:261349 |
| Myhre Syndrome |
|
Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her... |
ORPHA:2588 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... |
OMIM:618014 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Neoplasm of the stomach, Anorexia, Pituitary corticotropic cell adenoma, Pan... |
ORPHA:99889 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Narrow palate, Anal atresia |
ORPHA:2063 |
| Renal Nutcracker Syndrome |
|
Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Weight loss, Hematuria, Infertility... |
ORPHA:71273 |
| Buratti-Harel Syndrome |
|
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High pala... |
OMIM:619314 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Cryptorchidism, Hamartoma of tongue |
ORPHA:1338 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Small scrotum, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Abn... |
ORPHA:3253 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormal dental enamel morphology, A... |
ORPHA:96169 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Inguinal hernia, External genital hypoplasia, Cryptorchidism, Submucous clef... |
ORPHA:2250 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Obesity, Primary amenorrhea |
ORPHA:319675 |
| Micro Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Hydronephrosis, Clitoral hypoplasi... |
ORPHA:2510 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Abs... |
ORPHA:2990 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Inguinal hernia, Flexion contracture of finger, Small for gestational age, Shoul... |
OMIM:193700 |
| Ruvalcaba Syndrome |
|
Inguinal hernia, Cryptorchidism, Hematuria, Delayed puberty, Generalized hirsutism |
ORPHA:3121 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Broad eyebrow, Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Low anterior hairline,... |
OMIM:619244 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Small scrotum, Increased connective tissue, Cryptorchidism, Flexion contracture, High palate, Mic... |
ORPHA:98905 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Marden-Walker Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Renal hypopl... |
OMIM:248700 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Cleft palate, Joint contracture of the hand, Aminoaciduria, Hypoplasia of the thy... |
OMIM:214110 |
| Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Hyperactivity, Small scrotum, Small for gestational age, Aggressive behavior, Crypto... |
OMIM:609625 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
| Orofacial Cleft 15 |
|
Bilateral cleft palate, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, High anterior hairline |
OMIM:616788 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Frontal balding, Precocious puberty, Cryptorchidism, Synophrys, High, narrow palate,... |
ORPHA:96092 |
| Martin-Probst Syndrome |
|
Bifid scrotum, Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Um... |
OMIM:300519 |
| Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Sparse hair |
OMIM:613224 |
| Arthrogryposis, Distal, Type 3 |
|
Camptodactyly of finger, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Knee flexion ... |
OMIM:114300 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Cryptorchidism, Hydroureter, Curly hair |
OMIM:616559 |
| Kapur-Toriello Syndrome |
|
Intestinal malrotation, Camptodactyly of finger, Cryptorchidism, Cleft palate, Low posterior hair... |
OMIM:244300 |
| Diphallia |
|
Bifid scrotum, Ureteral duplication, Inguinal hernia, Rectoperineal fistula, Hypospadias, Distal ... |
ORPHA:227 |
| Isolated Atp Synthase Deficiency |
|
Hypothyroidism, 3-Methylglutaconic aciduria, Hypogonadism, Renal hypoplasia |
ORPHA:254913 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... |
OMIM:262000 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Diabetes mellitus, Cryptorchidism, Ureterocele... |
ORPHA:261265 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
| Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Cryptorchidism, Clef... |
ORPHA:994 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Inguinal hernia, Hypospadias, Cryptorchidism, Umbilical hernia |
OMIM:601499 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Cryptorchidism, Hydromet... |
ORPHA:2473 |
| Rafiq Syndrome |
|
Highly arched eyebrow, Aggressive behavior, Sparse eyebrow, Long eyebrows, Flexion contracture, O... |
OMIM:614202 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
| Hydrolethalus |
|
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal fallopian tube morphology, Bi... |
ORPHA:2189 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Congenital diaphragmatic hernia, Malrotation of small bow... |
ORPHA:139466 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, 2-ethylhydracylic aciduria |
OMIM:610006 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Osteomalacia, Camptodactyly of finger, Recurrent fracture... |
ORPHA:2176 |
| Wilson Disease |
|
Abnormality of the menstrual cycle, Aggressive behavior, Hypersexuality, Increased body weight, W... |
ORPHA:905 |
| Opitz Gbbb Syndrome |
|
Inguinal hernia, Hypospadias, Rectourethral fistula, Cryptorchidism, Widow's peak, Cleft palate, ... |
OMIM:300000 |
| Autosomal Recessive Omodysplasia |
|
Cryptorchidism, Hernia |
ORPHA:93329 |
| Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Cleft palate, High palate, Displace... |
ORPHA:1752 |
| Scarf Syndrome |
|
Bifid scrotum, Inguinal hernia, Cryptorchidism, Low anterior hairline, Perineal hypospadias, Low ... |
OMIM:312830 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Cryptorchidism |
OMIM:616789 |
| Cree Mental Retardation Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias, Cleft soft palate |
OMIM:606851 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Hypothyroidism, Obesity, Self-injuriou... |
OMIM:600430 |
| Seckel Syndrome 1 |
|
Hyperactivity, Hypospadias, Cryptorchidism, Elbow flexion contracture, Cleft palate, High palate,... |
OMIM:210600 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Rubinstein-Taybi Syndrome |
|
Failure to thrive in infancy, Highly arched eyebrow, Cryptorchidism, Atypical scarring of skin, H... |
ORPHA:783 |
| Renal Hypoplasia, Bilateral |
|
Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease... |
ORPHA:97362 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism |
OMIM:620012 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Decreased testicular size, Hyperactivity, Small scrotum, Hypospadias, Protruding tongue, Cryptorc... |
OMIM:309580 |
| 9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Abnormal tongue morphology, Hydronephrosis |
ORPHA:531151 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Synophrys, Low anterior hairline, High pala... |
ORPHA:199 |
| Alg9-Cdg |
|
Omphalocele, Villous atrophy, Lipodystrophy, Ureteral hypoplasia, Low posterior hairline, Bifid u... |
ORPHA:79328 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabe... |
OMIM:615238 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Joint stiffness, Cryptorchidism, M... |
ORPHA:847 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Multiple bladder diverticula |
ORPHA:2728 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Poems Syndrome |
|
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... |
ORPHA:2905 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Hypogonadism, Type II diabetes mellitus |
ORPHA:79095 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, High palate, Obesity, Aggressive behavior |
OMIM:617752 |
| Oeis Complex |
|
Omphalocele, Hydroureter, Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambig... |
OMIM:258040 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone development, Inflam... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone development, Inflam... |
ORPHA:99228 |
| Monosomy X |
|
Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone development, Inflam... |
ORPHA:99226 |
| Turner Syndrome |
|
Ectopic kidney, High, narrow palate, Delayed early-childhood social milestone development, Inflam... |
ORPHA:881 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula |
ORPHA:77298 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Abnormal eating behavior, Protruding tongue, Tongue thrusting, Obesity,... |
ORPHA:411511 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism |
ORPHA:2519 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse eyebrow, Cryptorchidism, Multicystic kidney dysplasia, Intestinal pseudo-obstruction |
ORPHA:73246 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Severe failure to thrive, Cryptorchidism, Frontal hirsutism, High palate |
ORPHA:3304 |
| 3Mc Syndrome 3 |
|
Bifid scrotum, Highly arched eyebrow, Cryptorchidism, Horseshoe kidney, Cleft palate, Micropenis,... |
OMIM:248340 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
| Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization, Reduced bone mineral den... |
ORPHA:891 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Trichoschisis, Small for gestational age, Malabsorption, Fl... |
OMIM:601675 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Cryptorchidism, Pancreatic lymphangiectasis, Hydronephrosis, High palate, Abnorm... |
ORPHA:1655 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cr... |
ORPHA:1812 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary casts, Jaundice... |
ORPHA:509 |
| Microphthalmia, Syndromic 5 |
|
Cryptorchidism, Micropenis, Cleft palate, Ectopic posterior pituitary |
OMIM:610125 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Cryptorchidism, Premature graying of hair,... |
OMIM:613266 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Hip contracture, Cryptorchidism, ... |
ORPHA:85201 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity |
OMIM:612463 |
| Ohdo Syndrome, Sbbys Variant |
|
Cryptorchidism, Hypospadias, Hypothyroidism, Cleft palate |
OMIM:603736 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Highly arched eyebrow, Supernumerary nipple, Unilateral renal agenesis, ... |
OMIM:619951 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Small scrotum, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavio... |
OMIM:620330 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Omphalocele, Premature thelarche, Osteolysis involving bones of the upper limbs, Oste... |
ORPHA:371428 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hyperactivity, Hypospadias, Small for gestational age, Aggressive behavior, Crypto... |
OMIM:619148 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Small scrotum, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Ambiguous g... |
ORPHA:1300 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Hypospadias, Intestinal malrotation, Impulsivity, Aggressive behavior, Abnormal fe... |
ORPHA:353281 |
| Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fistula, Hypogonadism, Micr... |
OMIM:300514 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, High palate |
ORPHA:139471 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... |
ORPHA:96182 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary incontinence, Obesity, Urinary urgency, Dysphagia, Urinary bladder sphincter dysfunction |
OMIM:604360 |
| Toluene Embryopathy |
|
Cryptorchidism, Hydronephrosis |
ORPHA:1920 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Klippel-Trénaunay Syndrome |
|
Hematuria, Cellulitis, Tall stature, Abnormality of the menstrual cycle |
ORPHA:90308 |
| Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Inguinal hernia, Small scrotum, Camptodactyly of finger, Highly arched eyebrow, Sparse eyebrow, C... |
ORPHA:1968 |
| Monosomy 13Q34 |
|
Metrorrhagia, Horizontal eyebrow, Obesity |
ORPHA:96168 |
| Cimdag Syndrome |
|
Cholelithiasis, Lipodystrophy, Hypogonadism |
OMIM:619273 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Mi... |
ORPHA:1307 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Inguinal hernia, Absent eyelashes, Cryptorchidism, Abnormality of the e... |
ORPHA:166035 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, High... |
OMIM:610733 |
| Acrofacial Dysostosis, Catania Type |
|
Inguinal hernia, Hypospadias, Abnormal hair pattern, Cryptorchidism, Coarse hair |
ORPHA:1786 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... |
OMIM:274300 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Urinary incontinence, Obesity |
ORPHA:464282 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Precocious puberty in females, Osteomalacia, Elevated ci... |
ORPHA:249 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Repetitive compulsive behavior, Perineal hypospadi... |
ORPHA:66634 |
| Sotos Syndrome |
|
Aggressive behavior, Sparse eyebrow, Cryptorchidism, High, narrow palate, Increased body weight, ... |
OMIM:117550 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
| Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Highly arched eyebrow, Unilateral renal agenesis, Sparse eyebrow, C... |
OMIM:614527 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Abnormality of temperature regulation, Proteinuria, Scarring, Foot joint con... |
ORPHA:90321 |
| Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Low urinary cyclic AMP ... |
OMIM:603233 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Abnormal dental enamel morpholog... |
ORPHA:2323 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Cryptorchidism, Synophrys, High palate, Ambiguous genitalia, Micropenis, Hirsutism |
OMIM:614969 |
| Meacham Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Cryptorchidism, Hydrometrocolpos, Horseshoe... |
ORPHA:3097 |
| Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horses... |
OMIM:600901 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Micropenis, Failure to thrive |
OMIM:607143 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Cryptorchidism, Overgrowth, Frontal upsweep of hair, Micropenis, Hydronep... |
OMIM:617798 |
| Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Dorsocervical fat pad, ... |
ORPHA:96253 |
| Meier-Gorlin Syndrome 4 |
|
Cryptorchidism, Failure to thrive, Breast hypoplasia |
OMIM:613804 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Failure to thrive, Hepatomegaly, Anisocytosis, Cardiomegaly, M... |
OMIM:618278 |
| Baralle-Macken Syndrome |
|
High, narrow palate, Urinary incontinence, Hirsutism, Obesity |
OMIM:619255 |
| Chromosome 1P35 Deletion Syndrome |
|
Cryptorchidism, High palate, Congenital hypothyroidism |
OMIM:617930 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Fine hair, Truncal obesity, Attention deficit hyperactivity disorder, Abnorma... |
ORPHA:2637 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Synophrys, Low posterior hairline, Truncal obesity, Thick eyebrow |
ORPHA:2429 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Ventral hernia, Inguinal hernia, Cryptorchidism, Low posterior hairline, Atypical scarring of ski... |
OMIM:618000 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Premature graying of hair, Cryptorchidism, Nail dystrophy, Type I diabetes mellitus |
OMIM:620365 |
| Fryns Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrota... |
ORPHA:2059 |
| Cog5-Cdg |
|
Neurogenic bladder, Urinary incontinence, Camptodactyly of finger, Cryptorchidism, Abnormality of... |
ORPHA:263487 |
| Meier-Gorlin Syndrome 5 |
|
Submucous cleft hard palate, Cryptorchidism, Micropenis, Failure to thrive |
OMIM:613805 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Hypospadias, Intestinal malrotation, Congenital diaphragmatic hern... |
OMIM:617602 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Elbow flexion contrac... |
OMIM:618493 |
| Microtriplication 11Q24.1 |
|
Synophrys, Obesity, Cleft palate, Long eyelashes, Bruxism, Thick eyebrow |
ORPHA:289522 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, Protruding tongue, Tongue thru... |
ORPHA:98794 |
| Meningococcal Meningitis |
|
Fever, Renal insufficiency, Hypothermia, Anorexia |
ORPHA:33475 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hypertension... |
OMIM:193300 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Cleft pal... |
OMIM:235255 |
| Pseudotrisomy 13 Syndrome |
|
Omphalocele, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropenis,... |
OMIM:264480 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Cryptorchidism, Hyperactivity, Hypoplastic nipples, Bifid uvula |
OMIM:618505 |
| Ohdo Syndrome, X-Linked |
|
Inguinal hernia, Small scrotum, Hiatus hernia, Sparse eyebrow, Cryptorchidism, High anterior hair... |
OMIM:300895 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Obesity, Cleft palate, Truncal obesity, High palate, Enamel hyp... |
OMIM:618363 |
| Schinzel-Giedion Syndrome |
|
Inguinal hernia, Streak ovary, Hypospadias, Failure to thrive in infancy, Aganglionic megacolon, ... |
ORPHA:798 |
| Nephronophthisis 15 |
|
Obesity, Nephronophthisis |
OMIM:614845 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Congenital diaphragmatic hernia, High palate, Vesicoureteral reflux, Enlarged ovar... |
ORPHA:2745 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Overgrowth |
OMIM:224410 |
| Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Cryptorchidism, Renal h... |
OMIM:603467 |
| C Syndrome |
|
Omphalocele, Cryptorchidism, Renal cortical cysts, High palate, Failure to thrive, Clitoral hyper... |
OMIM:211750 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Cleft palate, Long eyelashes, Bifid uvula, Tall stature |
OMIM:618089 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Cryptorchidism, Narrow palate, Cleft palate, Anteriorly placed anus, Umbilical her... |
ORPHA:1555 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... |
ORPHA:2969 |
| Wolfram Syndrome |
|
Diabetes mellitus, Dysuria, Malabsorption, Male hypogonadism, Gastric ulcer, Hypogonadism, Delaye... |
ORPHA:3463 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Cryptorchidism, Lipoma, Pelvic kidney, Multiple central nervous system lipomas, Hydrone... |
OMIM:613001 |
| Timothy Syndrome |
|
Hypothyroidism, Hypothermia |
OMIM:601005 |
| Hypoplasminogenemia |
|
Cervicitis, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian tube morphology, ... |
ORPHA:722 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Cryptorchidism, Long eyelashes, High palate, Attention deficit hyperactivi... |
OMIM:619005 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Small for gestational age, Hypospadias, Cryptorchidism, 3-Methylglutaconic acidu... |
OMIM:614052 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Abnormal testis morphology, Increased circulating cortisol ... |
ORPHA:1227 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Limb joint contracture, Hydronephrosis |
OMIM:620327 |
| Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Vesicoureteral ... |
ORPHA:116 |
| 2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Supernumerary nipple, Highly arched eyebrow, Spa... |
ORPHA:1001 |
| Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig... |
ORPHA:99867 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Inguinal her... |
ORPHA:709 |
| Orofaciodigital Syndrome V |
|
Unilateral cryptorchidism, Aganglionic megacolon, Hamartoma of tongue, Horseshoe kidney, Cleft pa... |
OMIM:174300 |
| Crane-Heise Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Cleft palate |
ORPHA:1512 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
| Rothmund-Thomson Syndrome Type 1 |
|
Premature ovarian insufficiency, Small for gestational age, Alopecia totalis, Abnormal dental ena... |
ORPHA:221008 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
High palate, Umbilical hernia, Abnormality of the ureter, Obesity |
ORPHA:1035 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Cryptorchidism, Joint contracture, High palate |
OMIM:602471 |
| Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Unilateral renal hypoplasia, Patchy alopecia, Pheochromocytoma |
ORPHA:2874 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Camptodactyly of finger, Cryptorchidism, Self-injurious behavior, Hydro... |
ORPHA:568 |
| Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis,... |
OMIM:246200 |
| Deeah Syndrome |
|
Abnormality of temperature regulation, Decreased response to growth hormone stimulation test, Ant... |
OMIM:619004 |
| Distal Duplication 5Q |
|
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder, Hernia |
ORPHA:96097 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Crypto... |
ORPHA:2166 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Inguinal hernia, Recurrent fractures, Unilateral renal agenesis,... |
OMIM:618188 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Hypothermia |
OMIM:309400 |
| Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Hyperthyroidism, Hypospadias, Camptodactyly of finger, Cryptorchidism, Cleft... |
ORPHA:2008 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, 3-Methylglutaconic aciduria, Bile duct proliferation, Hypothermia |
OMIM:618329 |
| Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Cryptorchidism, Low posterior... |
OMIM:300963 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Sparse hair, Vesico... |
ORPHA:3455 |
| Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Alopecia, Premature ova... |
ORPHA:79474 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Cryptorchidi... |
OMIM:257300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Flexio... |
OMIM:227645 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Intestinal malrotation, Camptodactyly of finger, Cryptorchidism, Horseshoe k... |
ORPHA:99776 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Inguinal hernia, Recurrent intrapulmonary hemorrhage, Joint hypermobility, Diffuse alveolar hemor... |
OMIM:130050 |
| Bloom Syndrome |
|
Small for gestational age, Decreased fertility in females, Cryptorchidism, Azoospermia, Type II d... |
OMIM:210900 |
| Meier-Gorlin Syndrome 3 |
|
Small scrotum, Hypospadias, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Hypoplastic ... |
OMIM:613803 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophageal fistula |
OMIM:619859 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cleft soft palate, Highly arched eyebrow, Cryptorchidism, Male pseudohermaphroditism... |
ORPHA:2282 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidi... |
OMIM:613457 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Cryptorchidism, Cleft palate, Hydronephrosis, High palate, Vesicouretera... |
ORPHA:96061 |
| Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... |
OMIM:188400 |
| Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchidism, Hypopituit... |
ORPHA:1827 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism |
OMIM:300578 |
| X-Linked Mandibulofacial Dysostosis |
|
Cryptorchidism, High palate, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1131 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Small for gestational age, Alopecia totalis, Hypothermia |
OMIM:618775 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Obesity, Hydronephrosis, Type I diabetes mellitus, Moderate albuminuria, Dent... |
OMIM:619269 |
| Recombinant 8 Syndrome |
|
Small scrotum, Camptodactyly of finger, Abnormal hair morphology, Cryptorchidism, Cleft palate, L... |
ORPHA:96167 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My... |
ORPHA:892 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed... |
ORPHA:261552 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia, Anal atresia |
ORPHA:3301 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Inguinal hernia, Abnormality of hair texture, Hypogonadism, Esophagitis, Umbilical hernia, Failur... |
ORPHA:79351 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Aggressive behavior, Pica, Obesity, Organic aciduria, Long eyelashes, High ... |
OMIM:620191 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ... |
ORPHA:284339 |
| Retinoblastoma |
|
Subretinal pigment epithelium hemorrhage, Hyphema, Pineoblastoma, Vitreous hemorrhage, Cellulitis... |
ORPHA:790 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization |
OMIM:193235 |
| Meckel Syndrome 14 |
|
Tricuspid regurgitation, Decreased calvarial ossification, Mitral regurgitation, Hepatic fibrosis... |
OMIM:619879 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ... |
OMIM:175200 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... |
OMIM:611773 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased response to grow... |
OMIM:146510 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Hypothermia, Overweight, Obesity, Anteriorly placed anus |
ORPHA:26793 |
| Alg6-Cdg |
|
Puberty and gonadal disorders, Increased circulating androgen concentration, Macroglossia, Protei... |
ORPHA:79320 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ... |
OMIM:268400 |
| Eales Disease |
|
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... |
ORPHA:40923 |
| Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryptorchidism, Esopha... |
OMIM:227646 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her... |
ORPHA:2658 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Hypospadias, Sp... |
OMIM:264090 |
| Summitt Syndrome |
|
Camptodactyly of finger, Obesity, Tall stature |
ORPHA:3210 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Small for gestational age, Cryptorchidism, Urolithiasis, Hyperu... |
OMIM:300661 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Sparse scalp hair, Hypospadias, Precocious puberty, Truncal obesity, Type II diabetes mellitus, E... |
OMIM:210720 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, High, narrow palate, Synophrys, Tics, High palate, Compulsive behaviors, Micropeni... |
OMIM:619475 |
| Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur... |
OMIM:615368 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:604292 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
| Werner Syndrome |
|
Diabetes mellitus, Alopecia of scalp, Hypogonadism |
OMIM:277700 |
| Fanconi Anemia |
|
High palate, Abnormality of the uterus, Abnormality of the hypothalamus-pituitary axis, Hypospadi... |
ORPHA:84 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Cryptorchidism, Cleft palate, Anteriorly placed anus, Hernia |
OMIM:217980 |
| Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... |
OMIM:608156 |
| Meier-Gorlin Syndrome 6 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
OMIM:616835 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral reflux, Hypothyroidism, Hypop... |
ORPHA:567 |
| Ritscher-Schinzel Syndrome 3 |
|
Cryptorchidism, Highly arched eyebrow |
OMIM:619135 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Synophrys, Truncal obesity, Bruxism, Recurrent hand flapping |
OMIM:613192 |
| Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... |
OMIM:612651 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, M... |
ORPHA:2241 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Renal insufficiency, Proteinuria,... |
OMIM:216400 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... |
OMIM:236700 |
| 8Q21.11 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis, High palate, Camptodactyly of finger |
ORPHA:284160 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Diabetes mellitus, Lipodystrophy, Highly ... |
OMIM:270450 |
| Alagille Syndrome |
|
Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Delayed puberty, Failure to thrive |
ORPHA:52 |
| Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Pelvic kidney, Horseshoe kidney |
OMIM:613951 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Small scrotum, Cryptorchidism, Cleft palate, Camptodactyly, Long eyelashes, Absent axillary hair,... |
OMIM:601353 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism... |
OMIM:261540 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
| 17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... |
ORPHA:529962 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Epispadias, Hypoplasti... |
ORPHA:2554 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Cryptorchidism, Pyloric stenosis, Flexion contracture, Elbow flexion contracture... |
OMIM:614438 |
| Floating-Harbor Syndrome |
|
Restlessness, Hypospadias, Small for gestational age, Impulsivity, Aggressive behavior, Precociou... |
ORPHA:2044 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Aggressive behavior, Precocious puberty, Synophrys, Obesity, Cleft palate, Umbilical hernia, Chol... |
OMIM:301066 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cryptorchidism, Cleft palate, High palate, Camptodactyly, Micropenis |
OMIM:614230 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anal stenosis, Anterior pituitary hypoplasia, Sparse ... |
OMIM:181450 |
| Carpenter Syndrome 2 |
|
Supernumerary nipple, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Sparse eye... |
OMIM:614976 |
| Perlman Syndrome |
|
Distal ileal atresia, Renal hamartoma, Congenital diaphragmatic hernia, Large for gestational age... |
OMIM:267000 |
| Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Large for gestational age, Renal ... |
OMIM:229850 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity, High palate |
ORPHA:85280 |
| Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Midgut malrotation, Cleft palate, Micropenis |
OMIM:263750 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
| Sarcoidosis |
|
Fever, Alopecia, Renal insufficiency, Hyperthyroidism, Scarring, Diabetes insipidus, Hypothermia,... |
ORPHA:797 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Tachycardia, Bifid scrotum, Unilateral cryptorchidism,... |
OMIM:618280 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis, ... |
OMIM:617063 |
| Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Failure to thrive, Hydroureter, Hypospadias, Abnormal hair morphology, Ep... |
ORPHA:289 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Flexion contracture of finger, Hypospadias, Small for gestational age, Unilate... |
ORPHA:464311 |
| 1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Cryptorchidism, High palate, Attention deficit hyperactivity disorder, Vesicoure... |
ORPHA:250989 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria |
ORPHA:2239 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cryptorchidism, Cleft palate, Furrowed tongue, Macroglossia, Bifid uvula, High palate, Bruxism, V... |
ORPHA:453499 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Alopecia, Cryptorchidism, Urethral stenosis, Fine hair, Premature graying of ... |
OMIM:613990 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
| Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Recurrent fractures, Retinal neovascularization |
OMIM:133780 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
| Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity, Horseshoe kidney |
OMIM:617406 |
| Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Synophrys, Renal cyst, High... |
OMIM:122470 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:129900 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... |
ORPHA:96191 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Cleft soft palate, Cryptorchidism, Cleft palate, Camptodactyly, Umbilical hernia, Micropenis |
OMIM:616331 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula, Cleft palate... |
ORPHA:2879 |
| Say-Barber-Miller Syndrome |
|
Abnormality of the hairline, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Elbow flexion... |
ORPHA:3132 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Small scrotum, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Esophagitis, Dysphag... |
ORPHA:495818 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, S... |
OMIM:301040 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
High palate, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hyperac... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
High palate, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hyperac... |
ORPHA:353277 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... |
OMIM:618430 |
| Mend Syndrome |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Cleft palate, Abnormal social behavior, High ... |
ORPHA:401973 |
| 16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Cleft palate, Self-injurious behavior, Compulsive behaviors |
ORPHA:261236 |
| Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Flexion contracture, Low ante... |
OMIM:180849 |
| Opitz-Kaveggia Syndrome |
|
Anal stenosis, Multiple joint contractures, Hypospadias, Intestinal malrotation, Inguinal hernia,... |
OMIM:305450 |
| Williams Syndrome |
|
Hypoplasia of penis, Rectal prolapse, Nephrocalcinosis, Compulsive behaviors, Vesicoureteral refl... |
ORPHA:904 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Alo... |
ORPHA:293978 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp... |
ORPHA:2237 |
| White-Kernohan Syndrome |
|
Hydroureter, Synophrys, Broad medial eyebrow, Obesity, Horseshoe kidney, Anteriorly placed anus, ... |
OMIM:619426 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Ketonuria, Anorexia, Hypothermia, Weight loss, 3-Methylglutaric aciduria |
ORPHA:20 |
| Native American Myopathy |
|
Cryptorchidism, Cleft palate, Malignant hyperthermia, Congenital contracture, High palate, Campto... |
ORPHA:168572 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft p... |
ORPHA:261197 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorchidism, Pancrea... |
OMIM:130650 |
| Primrose Syndrome |
|
Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion contracture, Tics, High pa... |
OMIM:259050 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cryptorchidism, Cleft palate, Shawl scrotum, Micropenis |
OMIM:600460 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Unilateral renal agenesis, Ectopic kidney, Absence of renal corticomedullary... |
OMIM:617641 |
| White-Sutton Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Cleft palate, Self-... |
OMIM:616364 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
| Xeroderma Pigmentosum |
|
Fever, Alopecia, Cryptorchidism, Aminoaciduria, Hypogonadism, Failure to thrive, Decreased testic... |
ORPHA:910 |
| Cln3 Disease |
|
Aggressive behavior, Increased circulating androgen concentration, Dysphagia, Urinary bladder sph... |
ORPHA:228346 |
| Diets-Jongmans Syndrome |
|
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Aggressive behavior, Cryptorchidis... |
OMIM:618846 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Small scrotum, Supernumerary nipple, Highly arched eyebrow, Congeni... |
OMIM:618454 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Aggressive behavior, Cryptorchidism, Velopharyngeal insuffic... |
OMIM:192430 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Aplasia of the uterus, Thrombocytopenia, Horseshoe kidney |
ORPHA:3320 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Obesity |
OMIM:618821 |
| Craniofrontonasal Syndrome |
|
Curly hair, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Widow's peak, Cleft pal... |
OMIM:304110 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Failure to thrive, Hypospadias, Anterior pituitary hypoplasia, Unilateral renal ag... |
ORPHA:464306 |
| Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Cryptorchidism, ... |
ORPHA:3380 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... |
OMIM:219080 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Renal insufficiency, Epistaxis, Abn... |
ORPHA:33226 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Vacterl With Hydrocephalus |
|
Inguinal hernia, Femoral hernia, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, A... |
ORPHA:3412 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Synophrys, Cleft... |
OMIM:614294 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Inguinal hernia, Cryptorchidism, Cleft palate, Joint contracture of the hand, Pelvic... |
OMIM:247200 |
| Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism, Cleft palate, Camptodactyly |
OMIM:619123 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
| Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Esopha... |
OMIM:206900 |
| Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Aggressive behavior, Hiatus hernia, Cryptorchidism, ... |
ORPHA:2896 |
| Pagod Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Sudden cardiac death, Congenital diaphragmatic hernia,... |
ORPHA:991 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, High, narrow palate, Hypercalciuria, Renal cyst, Obesity,... |
ORPHA:369837 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Inguinal hernia, Obesity |
ORPHA:3191 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Hyperactivity, Sparse scalp hair, Inguinal hernia, Large for gestational age, Cryptor... |
OMIM:607721 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contra... |
OMIM:151050 |
| Cowden Syndrome 1 |
|
Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Lymphopenia, Varicocele, Subcutaneous lipoma, ... |
OMIM:158350 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Diabetes mellitus, Lipodystrophy |
OMIM:615980 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Fine hair, Aggressive behavior |
OMIM:616202 |
| Meier-Gorlin Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Hypoplastic labia minora, Flexion contracture, Cleft p... |
OMIM:224690 |
| Ellis-Van Creveld Syndrome |
|
Epispadias, Hypospadias, Cryptorchidism |
OMIM:225500 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Chordee |
OMIM:616728 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Coffin-Siris Syndrome |
|
Sparse scalp hair, Hyperactivity, Thick eyebrow, Hypospadias, Aggressive behavior, Cryptorchidism... |
ORPHA:1465 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Hypospadias, Small fo... |
ORPHA:1596 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Aganglionic megacolon, Chronic kidney disease, Low anterior hairline, Obesity, Atten... |
ORPHA:261222 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Lipoatrophy, Abnormality of the lymphatic system, Hydrocele testis, M... |
ORPHA:276280 |
| Myhre Syndrome |
|
Small for gestational age, Cryptorchidism, Obesity, Cleft palate, Fine hair, Camptodactyly, Spars... |
OMIM:139210 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Hypogonadism |
OMIM:610651 |
| Jacobsen Syndrome |
|
Hypospadias, Abnormal eyelash morphology, Cryptorchidism, Pyloric stenosis, Flexion contracture, ... |
OMIM:147791 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology, Absent eyelashes, Cryptorc... |
ORPHA:861 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Aggressive behavior, Synophrys, Obesity, Narrow palate, Fine hair, Long eyelashes, Overgrowth |
OMIM:620250 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Hyperactivity, Inguinal hernia, Hypospadias, Unilateral cryptorchi... |
OMIM:613406 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, ... |
OMIM:260400 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Floating-Harbor Syndrome |
|
Inguinal hernia, Hypospadias, Aggressive behavior, Celiac disease, Cryptorchidism, Generalized hy... |
OMIM:136140 |
| Faundes-Banka Syndrome |
|
Sparse scalp hair, Premature thelarche, Cryptorchidism, Cleft palate, Dysphagia, Failure to thriv... |
OMIM:619376 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Anemia |
OMIM:620185 |
| Primary Familial Polycythemia |
|
Abnormal bleeding, Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
| Noonan Syndrome With Multiple Lentigines |
|
Cryptorchidism, Hypospadias, Decreased fertility |
ORPHA:500 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Inguinal hernia, Hypospadias, Decreased response to growth hormone stimulation test, Premature th... |
ORPHA:268261 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Sparse ha... |
OMIM:616682 |
| Fraser-Like Syndrome |
|
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:229230 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Absent external genitalia, Urethral atresia, ... |
OMIM:271520 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Abnormal circulating insulin concentration, Large for gestational age |
ORPHA:293964 |
| 3Mc Syndrome 2 |
|
Hypospadias, Highly arched eyebrow, Cryptorchidism, Horseshoe kidney, Cleft palate, High palate |
OMIM:265050 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Cowden Syndrome 6 |
|
Hydrocele testis, Ovarian cyst, Varicocele, Subcutaneous lipoma, Goiter |
OMIM:615109 |
| Neu-Laxova Syndrome |
|
External genital hypoplasia, Abnormal eyelash morphology, Abnormal hair morphology, Submucous cle... |
ORPHA:2671 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Hypospadias, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Synophrys, ... |
ORPHA:477993 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of finger, Lipodystrophy, Camptodactyly of finger, Sparse axillary hair, Adip... |
OMIM:256040 |
| Larsen Syndrome |
|
Cryptorchidism, Short nail, Cleft palate |
ORPHA:503 |
| Short Syndrome |
|
Joint laxity, Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Absence of ... |
OMIM:269880 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Hamartoma of tongue, Sparse eyebrow, Cryptorchidism, Renal hypoplasia, Renal cyst, C... |
OMIM:616300 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Cryptorchidism, Cleft palate, Anteriorly placed anus, Clitoral hypoplasia, Long eyel... |
OMIM:616894 |
| Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Large for gestational age, Gonadotropin defici... |
ORPHA:672 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Inguinal hernia, Cryptorchidism, Widow's peak, Narrow palate, Pollakisuria, High palate, Shawl sc... |
OMIM:227330 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Obesity, High palate, Facial hypertrichosis, Failure to thrive, Abnormality of the hairline |
OMIM:610543 |
| Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, High, narrow palate,... |
OMIM:163950 |
| Distal Deletion 3P |
|
Inguinal hernia, Cryptorchidism, Cleft palate, High palate, Umbilical hernia |
ORPHA:1620 |
| Somatomammotropinoma |
|
Tall stature, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulatin... |
ORPHA:314769 |
| Congenital Enterovirus Infection |
|
Fever, Hypothermia |
ORPHA:292 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Protein... |
OMIM:618183 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... |
OMIM:614083 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Maternal diabetes, Rectal fistula, Cryptorchidism, Bilateral... |
ORPHA:49 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Hypothermia, Renal tubular epithelial necrosis, Renal tubular dys... |
ORPHA:31826 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Generalized aminoaciduria, Hypothermia |
OMIM:251880 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Increased urinary glycerol, Small for gestational age, Cryptorchidism,... |
OMIM:307030 |
| Congenital Myopathy 13 |
|
Cryptorchidism, Flexion contracture, Malignant hyperthermia, Cleft palate, High palate |
OMIM:255995 |
| Cowden Syndrome 5 |
|
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter |
OMIM:615108 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Obesity, Dysphagia, Enuresis, Decreased body weight |
ORPHA:589821 |
| Barber-Say Syndrome |
|
Absent nipple, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Hypoplastic labia... |
OMIM:209885 |
| Hajdu-Cheney Syndrome |
|
Thick eyebrow, Inguinal hernia, Hypospadias, Short nail, Intestinal malrotation, Cryptorchidism, ... |
OMIM:102500 |
| Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
| Juvenile Xanthogranuloma |
|
Hyphema, Myeloproliferative disorder |
ORPHA:158000 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity, Aggressive behavior |
OMIM:619056 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ileus, Premature gr... |
ORPHA:163746 |
| Angelman Syndrome |
|
Hyperactivity, Protruding tongue, Obesity, Macroglossia, Fair hair, Paroxysmal bursts of laughter |
OMIM:105830 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... |
OMIM:107480 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Failure to thrive, Hypospadias, Abnormal dental enamel morphology, Con... |
ORPHA:2556 |
| Baller-Gerold Syndrome |
|
Cleft palate, Perineal fistula, Anteriorly placed anus, Rectovaginal fistula, High palate, Bifid ... |
OMIM:218600 |
| Fraser Syndrome |
|
Omphalocele, Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Abnor... |
ORPHA:2052 |
| 14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasi... |
ORPHA:264200 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Synophrys, Flexion contracture, Hypogonadism |
ORPHA:3042 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Failure to thrive, Aggressive behavior, High, narrow palate, Tongue thrusting, Obesity, Enuresis,... |
ORPHA:369950 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Thick eyebrow, Overweight, Widow's peak, Obesity, Agitation, Dysphagia, Enam... |
OMIM:619229 |
| Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity |
ORPHA:79445 |
| Monosomy 9P |
|
Hypospadias, Highly arched eyebrow, Congenital diaphragmatic hernia, Cryptorchidism, Synophrys, C... |
ORPHA:261112 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
| 6Q Terminal Deletion Syndrome |
|
Hypospadias, Highly arched eyebrow, Phimosis, High, narrow palate, Low anterior hairline, Obesity... |
ORPHA:75857 |
| Wolfram Syndrome 2 |
|
Neurogenic bladder, Diabetes mellitus, Primary amenorrhea, Gastric ulcer, Oligomenorrhea |
OMIM:604928 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula, Attention deficit hyperactivity di... |
OMIM:618748 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Highly arched eyebrow, Ectopic kidney, Cryptorchidism, Widow's peak, Shawl scrotum, ... |
ORPHA:1519 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Oliguria, Hypothermia |
ORPHA:159 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Obesity, Nephronophthisis |
OMIM:615630 |
| Autosomal Dominant Robinow Syndrome |
|
Abnormal penis morphology, Hypoplasia of penis, Alopecia, Hypospadias, Inguinal hernia, Curly eye... |
ORPHA:3107 |
| Cohen Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, High, narrow pa... |
OMIM:216550 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Aggressive behavior, Submucous cleft hard palate, Obesity, Enuresis nocturna, Attention deficit h... |
OMIM:619680 |
| Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
| Noonan Syndrome |
|
Abnormal hair quantity, Hypogonadotropic hypogonadism, Cryptorchidism, Low posterior hairline, Co... |
ORPHA:648 |
| Neuroleptic Malignant Syndrome |
|
Fever, Proteinuria, Urinary incontinence, Hypothermia, Agitation, Dysphagia, Myoglobinuria, Acute... |
ORPHA:94093 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Renal insufficiency, Uret... |
ORPHA:857 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Renal insufficiency, Ketonuria, Hypothermia, Hemolytic-uremic syndrome, Methylmalonic aciduria, F... |
ORPHA:79282 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Inguinal hernia, Perianal abscess, Cryptorchidism, Cleft palate, Panniculitis, Hypoplasia of the ... |
OMIM:612541 |
| Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Self-injurious behavior, Attention deficit hyperacti... |
ORPHA:649 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Fasciitis, Unexplained fevers, Impulsivity, Hypothermia, Chronic kidn... |
ORPHA:642 |
| Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... |
ORPHA:201 |
| Menkes Disease |
|
Hypopigmentation of hair, Inguinal hernia, Hypothermia, Malabsorption, Atypical scarring of skin,... |
ORPHA:565 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit... |
ORPHA:508 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Increased body weight, I... |
OMIM:615830 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, High palate, Obesity |
ORPHA:2180 |
| Roberts Syndrome |
|
Progressive flexion contractures, Cryptorchidism, Long penis, Cleft palate, Knee flexion contract... |
ORPHA:3103 |
| Camurati-Engelmann Disease |
|
Cachexia, Anorexia, Abnormal subcutaneous fat tissue distribution, Urinary retention, Hypogonadis... |
ORPHA:1328 |
| Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Thick hair, Scarring, Hiatus hernia, Hypothermia, High, narrow p... |
ORPHA:198 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hypothermia, Lacticaciduria, Dysphagia, Failure to thrive |
ORPHA:255210 |
| Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Highly arched eyebrow, Abnormal soft palate morphol... |
ORPHA:138 |
| Hartsfield Syndrome |
|
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Cleft palate, Micropenis, Diabetes insipidus |
OMIM:615465 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Cryptorchidism, High, narrow palate, Umbilical hernia |
ORPHA:1101 |
| Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Obesity, High palate, Overgrowth, Ta... |
ORPHA:2563 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Hydronephrosis |
OMIM:300712 |
| Tetrasomy 9P |
|
Absent gallbladder, Hyperactivity, Abnormal dental enamel morphology, Cryptorchidism, Horseshoe k... |
ORPHA:3310 |
| Adiposis Dolorosa |
|
Sparse axillary hair, Sparse pubic hair, Xerostomia, Obesity, Hypothyroidism |
ORPHA:36397 |
| Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Craniosynostosis, Bifid uterus |
ORPHA:1521 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Prote... |
ORPHA:191 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Anal stenosis, Enlarged labia min... |
OMIM:606170 |
| Incontinentia Pigmenti |
|
Telangiectasia of the skin, Eosinophilia, Supernumerary nipple, Abnormal dental enamel morphology... |
ORPHA:464 |
| Neurofaciodigitorenal Syndrome |
|
Cryptorchidism, Unilateral renal agenesis |
ORPHA:2673 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Synophrys, Obesity, High palate, Compulsive behaviors, Thick eyebrow |
OMIM:618443 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Hypospadias, Decreased response to growth hormone stimulation test, Highly arched eye... |
ORPHA:444077 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Camptodactyly of finger, Thyroid agenesis, Cryptorchidism, Submucous cleft ha... |
ORPHA:3047 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism, Intestinal malrotation |
OMIM:613834 |
| Chromosome 13Q14 Deletion Syndrome |
|
Inguinal hernia, Supernumerary nipple, Cryptorchidism, High palate, Umbilical hernia, Micropenis |
OMIM:613884 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Supernumerary nipple, Aggressive behavior, Bilateral cryptorchidis... |
ORPHA:466791 |
| C Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Failure to thrive in infancy, Abnormal hair pattern, C... |
ORPHA:1308 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
| Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Congenital hypoparathyroidism, Decreased testicular size, Abnormal circulating follicle-stimulati... |
ORPHA:93325 |
| Mend Syndrome |
|
Hyperactivity, Cryptorchidism, High palate, Crossed fused renal ectopia, Failure to thrive |
OMIM:300960 |
| Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Ap... |
ORPHA:564 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... |
ORPHA:98855 |
| Gabriele-De Vries Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal... |
ORPHA:506358 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Decreased circulating cortisol level, Intestinal malrotation, Unilat... |
OMIM:620305 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Carpal synostosis, Ureteral duplication, Eosinophilia, Pancreatic cysts, Leukocytosis, Prolonged ... |
OMIM:274000 |
| Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias... |
ORPHA:373 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Phimosis, Cryptorchidism, Syno... |
ORPHA:363611 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Cryptorchidism, Grade III vesicoureteral r... |
OMIM:619522 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... |
ORPHA:98853 |
| Shox-Related Short Stature |
|
High palate, Obesity |
ORPHA:314795 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Tall stature, Obesity, Thick eyebrow |
ORPHA:85325 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, High palate, Compulsive behaviors, Cli... |
OMIM:135900 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Bifid uterus |
ORPHA:2736 |
| Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, ... |
ORPHA:636 |
| Ring Chromosome 7 Syndrome |
|
Hypospadias, Highly arched eyebrow, Low anterior hairline, Cleft palate, Hydrocele testis, Hypogo... |
ORPHA:1449 |
| White-Sutton Syndrome |
|
Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav... |
ORPHA:468678 |
| Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Anal stenosis, Intestinal malrot... |
OMIM:147920 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Aggressive behavior, Cryptorchid... |
OMIM:309000 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Small for gestational age, Highly arched eyebrow, Precocious puberty, Cryptorchidism... |
OMIM:194190 |
| Microphthalmia, Syndromic 6 |
|
Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microglossia, Renal hypop... |
OMIM:607932 |
| X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Prolonged ne... |
ORPHA:423479 |
| Cohen-Gibson Syndrome |
|
Cryptorchidism, Flexion contracture, Overgrowth, Camptodactyly, Umbilical hernia, Tall stature |
OMIM:617561 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Failure to thrive |
ORPHA:3427 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Joint h... |
ORPHA:457284 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Lipodystrophy, Subretinal pigment epithelium hemorrhage, Abnormal subcutaneous f... |
ORPHA:357074 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Williams-Beuren Syndrome |
|
Rectal prolapse, Flexion contracture, Nephrocalcinosis, Premature graying of hair, Early onset of... |
OMIM:194050 |
| Chromosome 3Q29 Duplication Syndrome |
|
Obesity, Low posterior hairline |
OMIM:611936 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Renal cyst |
OMIM:617100 |
| Loeys-Dietz Syndrome |
|
Abnormal bleeding, Cardiac arrest, Craniosynostosis, Camptodactyly of finger, Atypical scarring o... |
ORPHA:60030 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Micronodular cirrhosis, Punctate va... |
OMIM:192315 |
| Fraser Syndrome 1 |
|
Absent eyebrow, Abnormal small intestine morphology, Hypospadias, Absent eyelashes, Cryptorchidis... |
OMIM:219000 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Tongue thrusting, Intermittent hypothermia |
OMIM:608643 |
| Dyskeratosis Congenita, X-Linked |
|
Alopecia, Hypospadias, Sparse eyelashes, Phimosis, Cryptorchidism, Esophageal stricture, Urethral... |
OMIM:305000 |
| Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Cholelithiasis, Diabetes mellitus, Obesity |
ORPHA:69663 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Ute... |
ORPHA:93271 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
| Desbuquois Dysplasia 1 |
|
Obesity |
OMIM:251450 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Inguinal hernia, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Contra... |
ORPHA:83617 |
| Poland Syndrome |
|
Diabetes mellitus, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Absence of subcu... |
ORPHA:2911 |
| X-Linked Intellectual Disability, Armfield Type |
|
Inguinal hernia, Cryptorchidism, Cleft palate, Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Overweight, Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids... |
OMIM:619769 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Maternal diabetes, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Polyc... |
OMIM:134780 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... |
ORPHA:3404 |
| Pallister-Killian Syndrome |
|
Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Renal cyst, Anteriorly place... |
OMIM:601803 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thick eyebrow, Aggressive behavior, Dilatation of renal calices, Synophrys, Obesity, Self-injurio... |
ORPHA:466950 |
| Microphthalmia, Syndromic 2 |
|
Hypospadias, Septate vagina, Cryptorchidism, Hypothyroidism, Submucous cleft hard palate, Flexion... |
OMIM:300166 |
| African Trypanosomiasis |
|
Alopecia, Renal insufficiency, Urinary incontinence, Abnormality of the menstrual cycle, Aggressi... |
ORPHA:3385 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Obesity |
OMIM:615418 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Joint hypermobility |
OMIM:617101 |
| Charge Syndrome |
|
External genital hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropin ... |
OMIM:214800 |
| Peripartum Cardiomyopathy |
|
Abnormality of thyroid physiology, Diabetes mellitus, Obesity |
ORPHA:563 |
| Incontinentia Pigmenti |
|
Eosinophilia, Supernumerary nipple, Scarring, Leukocytosis, Retinal hemorrhage, Breast aplasia, H... |
OMIM:308300 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
| Generalized Pustular Psoriasis |
|
Fever, Renal insufficiency, Overweight, Obesity, Geographic tongue |
ORPHA:247353 |
| Rift Valley Fever |
|
Abnormal bleeding, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepatitis, Melena... |
ORPHA:319251 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Malabsorption, Abnormality of the menstrual cycle, Genital hernia, Cystocele, De... |
ORPHA:285 |
| Phacoanaphylactic Uveitis |
|
Hyphema, Retinal arteritis |
ORPHA:209959 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, A... |
OMIM:236680 |
| Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Micropenis, Hypothyroidism, Hypospadias, Urethrovaginal fistula, Septate ... |
OMIM:243800 |
| Schneckenbecken Dysplasia |
|
Cryptorchidism, Cleft palate |
ORPHA:3144 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
| Momo Syndrome |
|
High palate, Overgrowth, Obesity |
OMIM:157980 |
| Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Omphalocele, Urinary incontinence, Bifid uterus, Splenomegaly... |
ORPHA:2729 |
| Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Cryptorchidism, Cleft palate, Abnormal parotid gland m... |
OMIM:154500 |
| Cockayne Syndrome Type 3 |
|
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Sp... |
ORPHA:90324 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Elbow flexion contracture, Narrow palate, Anteriorly ... |
OMIM:276820 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Cleft hard palate, Flexion contracture, Vesicoureteral reflu... |
ORPHA:2152 |
| Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Overgrowth, Obesity, Highly arched eyebrow |
OMIM:620155 |
| Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Hypothyroidism, Hypospadias, Cr... |
ORPHA:821 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Absent eyelashes, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly... |
OMIM:256520 |
| Wiskott-Aldrich Syndrome |
|
Fever, Abnormality of the menstrual cycle, Inflammation of the large intestine, Hypoplasia of the... |
ORPHA:906 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Inguinal hernia, Telangiectasia of the skin, Transient ischemic attack, Hyposp... |
ORPHA:286 |
| Tibial Hemimelia |
|
Hypospadias, Cryptorchidism, Cleft palate, Knee flexion contracture, Ambiguous genitalia |
ORPHA:93322 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
| 1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Shyness, Obesity, Self-injurious behavior, Self-mu... |
ORPHA:293948 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Long eyelashes, Broad lateral eyebrow, Obesity |
OMIM:608624 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Orofaciodigital Syndrome Xiv |
|
Hamartoma of tongue, Epispadias, Cryptorchidism, Aplasia of the epiglottis, Cleft palate, Unilate... |
OMIM:615948 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Cryptorchidism, Aplasia of the left hemidiaphragm |
OMIM:620025 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Dilatation of renal calices, Synophrys, Obesity, Self-injurious behavior, At... |
ORPHA:466943 |
| Retinoblastoma |
|
Vitreous hemorrhage, Leukemia, Pinealoma |
OMIM:180200 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity |
OMIM:618620 |
| Achondroplasia |
|
Obesity |
ORPHA:15 |
| 3Q29 Microduplication Syndrome |
|
Obesity, Cleft palate, Ectopic anus, High palate, Camptodactyly of toe |
ORPHA:251038 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
| Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Transient ischemic attack, Osteomalacia, Left ventricular systolic dysfunction... |
ORPHA:51608 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Fever, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Trichiasis, Moder... |
ORPHA:95455 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra... |
OMIM:608710 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hy... |
OMIM:614653 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... |
ORPHA:79102 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity, Dysphagia |
ORPHA:2822 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Cholesterol gallstones, Obesity |
ORPHA:209902 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Peptic ulcer, Overweight, Obesity, Nephrocalcinosis, Hypernatriuria, Increased... |
ORPHA:90041 |
| Diamond-Blackfan Anemia 21 |
|
Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow |
OMIM:620072 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Rectal prolapse, Obesity, Pseudohypoparathyroidism, Renal hypoplasia, High palate, Sparse hair, F... |
OMIM:617157 |
| Cystic Fibrosis |
|
Male infertility, Meconium ileus, Rectal prolapse, Ileus, Hypercalciuria, Steatorrhea, Failure to... |
OMIM:219700 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
| Desbuquois Dysplasia 2 |
|
Truncal obesity, Synophrys, Bifid uvula, Cleft palate |
OMIM:615777 |
| Dysbetalipoproteinemia |
|
Diabetes mellitus, Hypothyroidism, Obesity |
ORPHA:412 |
| Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
| Xylt1-Cdg |
|
Truncal obesity, Synophrys, Cleft palate, Hirsutism |
ORPHA:370930 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Increased circulating androgen concentration, Bladder diverticulum, Premature ... |
ORPHA:2976 |
| Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Obesity |
ORPHA:86816 |
| Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
| Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Obesity, Pineal cyst |
ORPHA:98908 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Obesity |
ORPHA:98907 |
| Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Obesity, Long eyelashes, Bruxism, Vesicoureteral reflux, Umbilical h... |
ORPHA:48652 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
| Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Aganglionic megacolon, Aggressive behavior, Cryptorchidism, High, narro... |
OMIM:309800 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Obesity |
OMIM:614947 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Abdominal obesity, Type II diabetes mellitus |
OMIM:615812 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Retinal hemorrhage, Stage 5 chronic kidney disease, Hyp... |
OMIM:609049 |
| Lysinuric Protein Intolerance |
|
Failure to thrive, Stage 5 chronic kidney disease, Fine hair, Truncal obesity, Aminoaciduria, Hyp... |
OMIM:222700 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Truncal obesity, Flexion contracture, Limb joint contracture |
OMIM:301072 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Retina... |
OMIM:175780 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Frontal balding, Highly arched eyebrow, Synophrys, Self-injurious behavior, Truncal obesity, High... |
OMIM:612474 |
| Trichinellosis |
|
Retinal hemorrhage |
ORPHA:863 |
| Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Obesity |
ORPHA:70591 |
| Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
| Sympathetic Ophthalmia |
|
Retinal hemorrhage |
ORPHA:79098 |
