Gene Summary

Name:
follicle stimulating hormone receptor
Synonyms:
follicle-stimulating hormone receptor,  FSH-R,  Follitropin receptor

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased fasting circulating glucose level Fshrtm1(KOMP)Vlcg HOM Early adult 2.90×10-05
increased total body fat amount Fshrtm1(KOMP)Vlcg HOM Early adult 1.25×10-07
decreased bone mineral density Fshrtm1(KOMP)Vlcg HOM Early adult 2.30×10-05
decreased bone mineral content Fshrtm1(KOMP)Vlcg HOM Early adult 1.98×10-11
abnormal startle reflex Fshrtm1(KOMP)Vlcg HOM Early adult 9.45×10-05
decreased lean body mass Fshrtm1(KOMP)Vlcg HOM Early adult 8.46×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Fshr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Fshr by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Fshr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... OMIM:618723
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:300068
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O... OMIM:228300
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Pituitary gonadotropic cell aden... ORPHA:91348
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Hypergonad... ORPHA:163976
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Short toe, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism,... ORPHA:3085
Familial Hyperprolactinemia
Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism ORPHA:397685
46,Xy Sex Reversal 1
Sex reversal, Male pseudohermaphroditism, Elevated circulating luteinizing hormone level, Abnorma... OMIM:400044
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
X-Linked Intellectual Disability, Cilliers Type
Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Hypos... ORPHA:163971
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
49,Xyyyy Syndrome
Abnormality of the testis size, Large carpal bones, Decreased serum testosterone concentration, E... ORPHA:99330
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... OMIM:614841
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Tall sta... ORPHA:99429
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Cryptorchidism, Decreased testicular size, Hypogonadi... OMIM:300869
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Primary... ORPHA:247768
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Bone cyst, Lipodystrophy, Clitoral hypertrophy, Polycystic ovarie... ORPHA:528
Ovarian Dysgenesis 4
Elevated circulating follicle stimulating hormone level, Primary amenorrhea, Decreased serum estr... OMIM:616185
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Increased serum testosterone level, Fibrosarcoma, Abnormal endometrium mo... ORPHA:314478
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Osteopenia, Primary amenorrhea, Secondary amenorrhea, Increased fem... ORPHA:432
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries, Sacral dimple, Decreased... ORPHA:1643
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Impotence, Decreased fertility in males, Central adrenal insuffi... ORPHA:91349
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... ORPHA:280356
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618187
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Premature Ovarian Failure 20
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619938
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Mccune-Albright Syndrome
Abnormality of femur morphology, Pancreatitis, Abnormal endocrine physiology, Benign gastrointest... ORPHA:562
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Ambiguous genitalia, female, Precocious puberty, Decreased ci... ORPHA:90795
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Streak ovary, Hypergonadotropic hypogonadism, Osteopenia, Primary amenorrhea, Contract... ORPHA:2232
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level, Tall stature, Micro... ORPHA:8
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Aarskog-Scott Syndrome
Testicular atrophy, Short neck, Shawl scrotum, Bilateral cryptorchidism, Decreased serum testoste... OMIM:305400
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... OMIM:176400
Hypersecretion Of Adrenal Androgens, Familial
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Disproportionate tall ... ORPHA:95699
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Micropenis, Tapered finger, Hypogonadism, Obesity, Cryptorchidism ORPHA:85274
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Adenomyosis
Dysmenorrhea, Abnormal bleeding, Adenomyosis OMIM:600458
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Precocious puberty, Hyp... ORPHA:457059
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short neck, Short... ORPHA:79444
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Decreased testicular size, Hypogonadism, Abnormality of ... ORPHA:1875
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea, Precocious puberty, Obesity OMIM:604931
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency OMIM:311360
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Premature fusion of the radial epiphyseal plates, Ambiguous... ORPHA:90794
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Rothmund-Thomson Syndrome Type 1
Metaphyseal sclerosis, Osteopenia, Aplastic anemia, Basal cell carcinoma, Hypogonadism, Calcinosi... ORPHA:221008
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Testicular atrophy, Cholangiocarcinoma, Hepatomegal... ORPHA:465508
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Bardet-Biedl Syndrome 5
External genital hypoplasia, Micropenis, Brachydactyly, Syndactyly, Polydactyly, Hypogonadism, Ob... OMIM:615983
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Short 1st metacarpal, Primary amenorrhea, Hypoplasia of the ulna,... OMIM:609441
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short neck, Short... ORPHA:79443
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... ORPHA:2410
Premature Ovarian Failure 9
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Rudiger Syndrome
Bicornuate uterus, Flexion contracture, Inguinal hernia, Ovarian cyst, Micropenis, Short digit OMIM:268650
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Micropenis, Hypospadias, Vaginal neoplasm, Decreased fertility in femal... ORPHA:1916
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovarian cyst, Cholestasis, Long p... OMIM:246200
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Small hand, Truncal obesity, Short foot, Decreased testicular size, Hypogonadi... ORPHA:261483
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries, Obesity OMIM:184700
Spermatogenic Failure 24
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... OMIM:617959
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Hypergonadotropic hypogonadism, Osteopenia, Lack of facial subcutane... ORPHA:2959
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Loss of truncal subcutaneous adipose tissue, Progressiv... OMIM:608709
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
46,Xx Gonadal Dysgenesis
Streak ovary, Reduced bone mineral density, Osteopenia, Arachnodactyly, Primary amenorrhea, Gonad... ORPHA:243
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Skeletal muscle hypertrop... ORPHA:435660
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... ORPHA:65681
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Primary amenorrhea, Bicornuate uterus OMIM:191830
Ataxia-Telangiectasia
Failure to thrive, Neoplasm, Type II diabetes mellitus, Lymphopenia, Delayed puberty, Diabetes me... ORPHA:100
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism, Short foot, Tapered finger OMIM:309585
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis, Premature pubarch... OMIM:612847
Preeclampsia
Abnormality of the hepatic vasculature, Small for gestational age, Increased body mass index, Ele... ORPHA:275555
Bardet-Biedl Syndrome 10
Obesity, Renal cyst, Polydactyly, Hypogonadism OMIM:615987
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size, Hypogonadism, ... OMIM:614962
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... OMIM:146110
Ane Syndrome
Multiple joint contractures, Kyphoscoliosis, Ulnar deviation of the hand, Decreased serum testost... ORPHA:157954
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Hypoplasia of the uterus, Small for gestational age, Elevated circulating lutein... OMIM:618419
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Small for gestational age, Diabetic ketoacidosis, Dry skin,... OMIM:262190
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebral atrophy, Hypergonadotropic hypogonadism, Elevated hepatic transaminase, Secondary amenor... OMIM:268020
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Uterine neoplasm, Ovarian neoplasm, Peripheral prim... ORPHA:370348
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma OMIM:142330
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Inguinal hernia, Slender long bone, Congeni... ORPHA:96181
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Estrogen Resistance
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Diabetes mellitus, Polycystic ovaries,... ORPHA:79084
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level, Aplasia of the... OMIM:618901
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Primary amenorrhea, Secondary amenorrhea, Hyperuricemia, Polycystic o... ORPHA:79083
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Tall stature, Lipodystrophy,... OMIM:269700
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Tall stature, Lipodystrophy,... OMIM:608594
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Short toe, Widely spaced toes, Shortening of all distal phalanges of the fingers, Micro... OMIM:301900
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Multiple myeloma, Abnormal circulating fatty-acid concentration, Abnormality of... ORPHA:2298
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Perioral erythema, Decreased serum testosterone concentration, Hepatomegaly, S... OMIM:201100
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia, Diabetes mellitus OMIM:605231
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Decreased serum testosterone concentration, A... ORPHA:325124
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Lipoatrophy, Dysmenorrhea, Cellulitis, Hepatomegaly, Splenomegaly, Skeletal muscle ... ORPHA:2348
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ulnar radial head dislocation, Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy OMIM:264270
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Skeletal muscle hypertrophy, Loss of gluteal subcutan... ORPHA:435651
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis OMIM:136680
Xp22.13P22.2 Duplication Syndrome
2-3 toe syndactyly, Congenital diaphragmatic hernia, Small hand, Short neck, Scoliosis, Truncal o... ORPHA:284180
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Moynahan Syndrome
Cachexia, Hypogonadism ORPHA:2574
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Bardet-Biedl Syndrome 16
Obesity, Renal cyst, External genital hypoplasia, Hypogonadism OMIM:615993
Oocyte Maturation Defect 10
Female infertility, Miscarriage OMIM:619176
Rothmund-Thomson Syndrome Type 2
Metaphyseal sclerosis, Osteopenia, Aplastic anemia, Basal cell carcinoma, Calcinosis, Leukemia, A... ORPHA:221016
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Pigmented m... OMIM:610475
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Azoospermia, Increased LDL cholesterol concentration, Oli... OMIM:615703
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Short neck, Abnormal metacarpal morphology, Hypogonadism, Obesity, A... ORPHA:2233
Werner Syndrome
Ovarian neoplasm, Lack of skin elasticity, Neoplasm of the small intestine, Lipodystrophy, Second... ORPHA:902
C Syndrome
Failure to thrive, Dislocated radial head, Renal cortical cysts, Hepatomegaly, Cutis laxa, Scolio... OMIM:211750
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Oligomenorrhea, Decreased serum leptin, Lipodystrophy, Hypertriglyc... ORPHA:79085
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Satoyoshi Syndrome
Amenorrhea, Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the ut... ORPHA:3130
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased serum testosterone level, Precocious puberty, Hypo... ORPHA:769
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Hypoplasia of the uterus, Hyperinsulinemia, Tall stature, Absenc... ORPHA:785
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Hepatomegaly, Talipes equinovarus, Splenomegaly, Hepatosplenomegaly, Intrahepa... OMIM:614866
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... ORPHA:249
Bardet-Biedl Syndrome 4
External genital hypoplasia, Brachydactyly, Syndactyly, Polydactyly, Renal cyst, Hypogonadism, Ob... OMIM:615982
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... OMIM:202010
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Perrault Syndrome 1
Talipes equinovarus, Primary amenorrhea, Scoliosis, Gonadal dysgenesis, Osteoporosis, Increased c... OMIM:233400
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Seckel Syndrome 5
Clinodactyly of the 5th finger, 11 pairs of ribs, Abnormal cortical gyration, Clitoral hypertroph... OMIM:613823
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Ovarian cyst, Intracranial hem... ORPHA:327
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Seckel Syndrome 1
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5... OMIM:210600
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Neoplasm of the rectum, Pituitary adenoma, Neoplasm of the colon, Uteri... ORPHA:440437
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... ORPHA:3411
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... OMIM:241080
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility OMIM:212840
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... ORPHA:523
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented m... OMIM:610489
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Polycystic ovaries, Abnormal... ORPHA:2795
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Polycystic ov... ORPHA:264580
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Hepatomegaly, Joint contracture of the hand, Elevated circulating long chain f... OMIM:214110
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Acroosteolysis of distal phalang... ORPHA:280365
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Breas... ORPHA:3044
Silver-Russell Syndrome
Abnormal vagina morphology, Precocious puberty, Decreased muscle mass, Clinodactyly of the 5th fi... ORPHA:813
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Prostate cancer, Breast carcin... ORPHA:157798
Hyperprolactinemia
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
Adenohypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased serum testosterone conce... ORPHA:95512
Diencephalic Syndrome
Decreased body weight, Cachexia, Abnormality of the hypothalamus-pituitary axis, Long penis, Larg... ORPHA:1672
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypoplasia of penis, Eunuchoid habit... ORPHA:2234
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus,... OMIM:602668
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Distal Monosomy 10P
Joint stiffness, Clinodactyly of the 5th finger, Hypoplasia of penis, Short neck, Polycystic ovar... ORPHA:1580
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Polycystic ov... ORPHA:370
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Panhypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased serum testosterone conce... ORPHA:95513
Mcdonough Syndrome
Kyphosis, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Cryptorchidism ORPHA:2471
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Hypovolemia, Hemorrhagic ovarian cyst, Increase... ORPHA:64739
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Neoplasm, Neoplasm of the liver, Hypoinsulinemia, Uterine neoplasm, Prostate ca... ORPHA:2126
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Obesity, Cry... ORPHA:3055
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Dev... ORPHA:1227
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Wilson-Turner Syndrome
Small hand, Hypogonadotropic hypogonadism, Tapered finger, Truncal obesity, Short foot, Cryptorch... ORPHA:3459
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Labial hypoplasia, Craniosynostosis, Hemivertebrae, Femoral bowing, Radioulnar synostosis, Ambigu... OMIM:201750
Riboflavin Transporter Deficiency
Cachexia, Limb muscle weakness, Hypogonadism, Facial palsy, Skeletal muscle atrophy, Diabetes ins... ORPHA:97229
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Small for gestational age, Del... OMIM:300148
Aromatase Deficiency
Delayed epiphyseal ossification, Female infertility, Ambiguous genitalia, female, Type II diabete... ORPHA:91
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Irregular menstruation, Diabetes mellitus OMIM:144800
Luscan-Lumish Syndrome
Polycystic ovaries, Obesity, Irregular menstruation, Overgrowth OMIM:616831
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Clinodactyly of the 5th finger, Hypoplasia of penis, Ingu... ORPHA:10
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Clinodactyly of the 5th finger, Hypoplasia of penis, Inguinal hernia, Small hand, Cache... ORPHA:85293
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:610628
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Bone... ORPHA:400
Transaldolase Deficiency
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Small for gestational age, Splenomegaly,... OMIM:606003
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:601217
Bardet-Biedl Syndrome 19
Obesity, Polydactyly, External genital hypoplasia, Hypogonadism OMIM:615996
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Short neck, Short... ORPHA:2183
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Irregular menstruation, Oligomenorrhea, Hepa... ORPHA:79240
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Urban-Rogers-Meyer Syndrome
Kyphosis, Recurrent fractures, Clinodactyly of the 5th finger, Hypoplasia of penis, Camptodactyly... ORPHA:3409
Zellweger Syndrome
Failure to thrive, Hepatomegaly, Hypospadias, Multicystic kidney dysplasia, Polymicrogyria, Prima... ORPHA:912
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Hyperlipidemia, Splenomegaly, Skeletal musc... ORPHA:90970
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Hypogonadism, Atypical scarring... ORPHA:791
Temple Syndrome
Joint hypermobility, Flexion contracture, Small for gestational age, Maturity-onset diabetes of t... OMIM:616222
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Hypogonadism, Abdominal obesity, Postaxial polydactyly, Postaxial hand... OMIM:209900
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Hymen, Imperforate
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... ORPHA:145
Cowden Syndrome 1
Hydrocele testis, Kyphosis, Lymphopenia, Hyperthyroidism, Fibroadenoma of the breast, Ovarian cys... OMIM:158350
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis OMIM:607080
Mehmo Syndrome
Talipes equinovarus, Hypoplasia of penis, External genital hypoplasia, Micropenis, Tapered finger... ORPHA:85282
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
46,Xx Sex Reversal 4
Ambiguous genitalia, Penoscrotal hypospadias, Clitoral hypertrophy, Micropenis OMIM:617480
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Postaxial... ORPHA:110
Renpenning Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Cachexia, Hypospadias, Abnormal rib morphology, ... ORPHA:3242
Schaaf-Yang Syndrome
Kyphosis, Flexion contracture, Micropenis, Small hand, Scoliosis, Rocker bottom foot, Tapered fin... OMIM:615547
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism OMIM:614880
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Polydactyly, Clinodactyly, Hypogonadism, Obesity OMIM:615984
Infantile Systemic Hyalinosis
Failure to thrive, Joint stiffness, Recurrent fractures, Osteopenia, Camptodactyly of finger, Abn... ORPHA:2176
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligospermia, Oligomenorrhea, Anterior ... ORPHA:91351
Central Precocious Puberty
Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased ... ORPHA:759
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Micropenis OMIM:610156
Cowden Syndrome 6
Hydrocele testis, Kyphosis, Hyperthyroidism, Fibroadenoma of the breast, Ovarian cyst, Breast car... OMIM:615109
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Small hand, Hypogonadotropic hypogonadism, Abnormal ulnar metaphysis... ORPHA:177910
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Hypergonadotropic hypogonadism, Hypogonadotropic hypogona... ORPHA:298
Seckel Syndrome 7
Hypoplasia of the uterus, Abnormal carpal morphology, Primary amenorrhea, Lumbar scoliosis, Clino... OMIM:614851
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Kyphosis, Macroglossia, Micropenis, Small hand, Hypospadias, Brachydactyly, Po... OMIM:300354
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... ORPHA:398079
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Hemivertebrae, Genu valgum, Clitoral hypertrophy, Shawl scrotum, Absent ste... OMIM:224690
Cowden Syndrome 5
Hydrocele testis, Kyphosis, Hyperthyroidism, Breast carcinoma, Ovarian cyst, Scoliosis, Hamartoma... OMIM:615108
Kallmann Syndrome
Recurrent fractures, Dyspareunia, Hypoplasia of penis, Micropenis, Reduced bone mineral density, ... ORPHA:478
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Diabetes mell... ORPHA:181393
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... ORPHA:98754
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Pituitary Gigantism
Amenorrhea, Pituitary growth hormone cell adenoma, Increased circulating insulin-like growth fact... ORPHA:99725
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... ORPHA:98793
Amed Syndrome, Digenic
Failure to thrive, Hypoplasia of the uterus, Leukopenia, Long thumb, Adrenal hypoplasia, Myelodys... OMIM:619151
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... ORPHA:177904
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... ORPHA:480536
Asherman Syndrome
Infertility, Miscarriage, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrua... ORPHA:137686
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... ORPHA:177901
Paternal Uniparental Disomy Of Chromosome X
Infertility, Decreased testicular size, Micropenis ORPHA:261524
Meier-Gorlin Syndrome 7
Bowing of the legs, Decreased body weight, 2-3 toe syndactyly, Micropenis, Craniosynostosis, Hypo... OMIM:617063
Retinopathy, Pigmentary, And Mental Retardation
Arachnodactyly, Scoliosis, Truncal obesity, Joint hypermobility, Hypogonadism OMIM:268050
Meningioma
Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hy... ORPHA:2495
Peroxisome Biogenesis Disorder 1A (Zellweger)
Failure to thrive, Ulnar deviation of the hand, Gray matter heterotopia, Hepatomegaly, Talipes eq... OMIM:214100
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Kyphoscoliosis, Flexion contracture of digit, Lumbar hyperlo... ORPHA:3041
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Labial hypoplasia, Clinodactyly of the 5th finger, Bicornuate uterus, Small for gestational age, ... OMIM:300707
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Aica-Ribosiduria
Clitoral hypertrophy, Fused labia minora ORPHA:250977
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Flexion contracture, Small hand, Short neck, Scoliosis, Wrist flexion contracture... OMIM:300055
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hypospadias, Clitoral hypertrophy, Dysgerminoma, Gonadoblastoma OMIM:613762
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Seckel Syndrome 9
Talipes equinovarus, Congenital diaphragmatic hernia, Small for gestational age, Agonadism, Ambig... OMIM:616777
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Kennerknecht syndrome
Abdominal obesity, Hypoplasia of the uterus, Toe clinodactyly, Agonadism, Short neck, Thoracolumb... OMIM:600908
Camurati-Engelmann Disease
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Genu valgum, Hypogonad... ORPHA:1328
Bardet-Biedl Syndrome 22
Polydactyly, Large for gestational age, Postaxial foot polydactyly, Hypogonadism, Obesity OMIM:617119
Bardet-Biedl Syndrome 2
External genital hypoplasia, Postaxial hand polydactyly, Postaxial foot polydactyly, Diabetes mel... OMIM:615981
Aica-Ribosuria Due To Atic Deficiency
Clitoral hypertrophy, Fused labia minora OMIM:608688
Bent Bone Dysplasia Syndrome 1
Short clavicles, Coronal craniosynostosis, Hepatosplenomegaly, Brachydactyly, Clitoral hypertrophy OMIM:614592
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Non-Acquired Panhypopituitarism
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... ORPHA:90695
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
48,Xxxy Syndrome
Tall stature, Short neck, Down-sloping shoulders, Radioulnar synostosis, Abnormal epiphysis morph... ORPHA:96263
Meier-Gorlin Syndrome 2
Failure to thrive, Labial hypoplasia, Tracheomalacia, Slender long bone, Camptodactyly, Clitoral ... OMIM:613800
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Anemia, Cachexia, Neoplasm of the centr... ORPHA:83469
Gestational Choriocarcinoma
Choriocarcinoma, Neoplasm, Miscarriage, Metrorrhagia, Trophoblastic tumor ORPHA:99926
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Chordee, Kyphoscoliosis, Joint stiffness, Gray matter heterotopia, Stre... OMIM:618820
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogonadism, Obesity ORPHA:141333
Prolactinoma
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Osteopenia, ... ORPHA:2965
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Nodular goiter, Premature thelarche, Osteopenia, Osteolysis involving bones of... ORPHA:371428
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Carpenter Syndrome
Preaxial foot polydactyly, Kyphoscoliosis, Talipes equinovarus, External genital hypoplasia, Cran... ORPHA:65759
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Impotence, Decreased response to grow... ORPHA:91354
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity, Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Ren... OMIM:150800
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Hypoplasia of the ulna, Basal cell carcinoma, Calcinosis, Leukemia, ... ORPHA:2909
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hypogonadotropic hypogon... ORPHA:848
Prader-Willi-Like Syndrome
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... ORPHA:398073
Meier-Gorlin Syndrome 3
Failure to thrive, Coxa vara, Talipes equinovarus, Micropenis, Absent sternal ossification, Hypos... OMIM:613803
Genitopatellar Syndrome
Hip contracture, Talipes equinovarus, Hypoplastic ilia, Multicystic kidney dysplasia, Radioulnar ... ORPHA:85201
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Polycystic ov... OMIM:151660
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Decreased ci... ORPHA:171706
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hepatomegaly, Inguinal hernia, Micropenis, Splenomegaly, Pulmonary lymphangiectasia... ORPHA:1655
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Osteopenia, Limb hypertonia, Atlantoaxial abnormality, Polym... ORPHA:3455
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:612702
Prader-Willi Syndrome
Hyperinsulinemia, External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasi... OMIM:176270
Pseudohypoparathyroidism, Type Ia
Short toe, Elevated circulating parathyroid hormone level, Short neck, Brachydactyly, Osteoporosi... OMIM:103580
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus, Skeletal muscle hypertrophy, Brachydactyly, Osteolytic defe... OMIM:600705
Oculocerebrofacial Syndrome, Kaufman Type
Arachnodactyly, Failure to thrive, Clitoral hypertrophy ORPHA:2707
Gonadal dysgenesis, xy type, with associated anomalies
Primary amenorrhea, Gonadal dysgenesis OMIM:233430
Cowden-Like syndrome
Breast carcinoma, Uterine leiomyoma, Endometrial carcinoma, Papillary thyroid carcinoma OMIM:612359
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Short neck, Brachydactyly, Osteoporosis, Enamel h... OMIM:612462
Retinohepatoendocrinologic Syndrome
Infertility, Maturity-onset diabetes of the young, Pallor, Degenerative liver disease, Elevated c... OMIM:268040
Acquired Hypertrichosis Lanuginosa
Neoplasm, Ovarian neoplasm, Neoplasm of the respiratory system, Neoplasm of the breast, Weight loss ORPHA:2221
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... ORPHA:79086
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Leukoencephalopathy, Progressive, With Ovarian Failure
Depression, Cerebellar atrophy, Neurodegeneration, Premature ovarian insufficiency OMIM:615889
Lead Poisoning
Infertility, Decreased male libido, Increased LDL cholesterol concentration, Reduced sperm motili... ORPHA:330015
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Meckel Syndrome 12
Vaginal atresia OMIM:616258
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Lymphangioma, Ovarian neoplasm, Reduced bone mineral density, Excessive wrin... ORPHA:137608
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Joint hypermobility, Small for gestational age, Maturity-onset diabetes of th... ORPHA:96184
Cornelia De Lange Syndrome 5
Clinodactyly of the 5th finger, Micropenis, Small hand, Short neck, Truncal obesity, Limited elbo... OMIM:300882
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... OMIM:110100
Roberts Syndrome
Midface capillary hemangioma, Craniosynostosis, Hypoplasia of the radius, Short neck, Long penis,... ORPHA:3103
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Brachydactyly, Congenital hepatic fibrosis, Hand ... ORPHA:2377
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Cryptorchidism, External genital hypoplasia, Hypogonadism ORPHA:363741
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Joint hypermobility, Maturity-onset diabetes of the young, Small hand, Scolio... ORPHA:254531
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... ORPHA:335
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Decreased mean corpuscular volume, Increased circulating ferritin concentr... ORPHA:300298
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy OMIM:150700
Leprechaunism
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperinsulinemia, Decreased body weight, ... ORPHA:508
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Recurrent fractures, Hypophosphatemia, Hepatomegaly, Metaphyseal irregularity,... OMIM:239200
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Periventricular nodular heterotopia, Primary amenorrhea, Scoliosi... OMIM:619737
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Brachydactyly, Gonadal dysgenesis, Large hands, Broad thumb, Umbilical hernia, Polycystic ovaries ORPHA:1770
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Short clavicles, Bowing of the legs, Extramedullary hematopoies... ORPHA:313855
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Ulnar deviation of th... OMIM:612079
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Ovarian Fibroma
Mesenteric cyst, Peritonitis, Odontogenic keratocysts of the jaw, Gonadal calcification, Basal ce... ORPHA:314473
Prader-Willi Syndrome
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Osteopeni... ORPHA:739
15Q24 Microdeletion Syndrome
Myelomeningocele, Failure to thrive, Kyphosis, Abnormality of toe, Congenital diaphragmatic herni... ORPHA:94065
Developmental And Epileptic Encephalopathy 89
Talipes equinovarus, Flexion contracture, Scoliosis, Limb undergrowth, Hypoplastic labia minora, ... OMIM:619124
Robinow Syndrome
External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Bifid distal phalanx of the thum... ORPHA:97360
Erythrokeratodermia Variabilis
Neoplasm of the skin, Erythema, Dry skin, Tapered finger, Brachydactyly, Diabetes mellitus, Weigh... ORPHA:317
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Breast ... OMIM:175200
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
Clark-Baraitser syndrome
Kyphosis, Tall stature, Scoliosis, Tapered finger, Genu valgum, Joint laxity, Obesity, Short palm... OMIM:300602
Atypical Werner Syndrome
Hyperinsulinemia, Ovarian neoplasm, Lack of skin elasticity, Neoplasm of the small intestine, Fin... ORPHA:79474
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Abnormality of the endocrine system, Aplasia/Hypoplasia of the fallopian tube, Aplasi... OMIM:158330
Bardet-Biedl Syndrome 8
Hypospadias, Obesity, Postaxial polydactyly, Hypogonadism OMIM:615985
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Increased bod... ORPHA:398069
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Secondary amenorrhe... ORPHA:99889
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Vaginal atresia, Cryptorchidi... OMIM:236700
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short distal phalanx of finger, Failure to thrive, Small for gestational age, Hypoplastic sacrum,... OMIM:614813
Fanconi Anemia, Complementation Group S