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Gene: Fanca MGI:1341823

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Fanconi anemia, complementation group A
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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 Fanca 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 Fanca by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Male infertility, Pancytopenia, Crypto... OMIM:227650
Fanconi Anemia
Abnormality of chromosome stability, Abnormality of the uterus, Hypogonadism, Azoospermia, Leukop... ORPHA:84

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Cone-Rod Dystrophy 1
Hypogonadism OMIM:600624
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism ORPHA:1180
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Hypogonadism, Male
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis OMIM:241100
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Polycystic ovaries, Pancreatitis, Hypertension, Diabetes mellitus ORPHA:79084
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogon... OMIM:614840
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... ORPHA:280356
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Breast ... ORPHA:432
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Deafness, Congenital, With Total Albinism
Hypogonadism OMIM:220900
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... ORPHA:755
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Short stat... ORPHA:141333
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
N Syndrome
Leukemia, Abnormality of chromosome stability, Hypospadias, Cryptorchidism OMIM:310465
Prader-Willi syndrome (Type 1)
Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism DECIPHER:53
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... ORPHA:3085
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi... OMIM:277000
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemorrhagic ovarian cyst, Decrease... ORPHA:335
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Familial Adenomatous Polyposis 4
Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hypochromia, Poikilocytosis, Anemi... OMIM:615234
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Hypoplasia of penis, Micropenis, Cryptorchidism ORPHA:85274
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Spastic Paraparesis And Deafness
Hypogonadism OMIM:312910
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism ORPHA:1014
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28 OMIM:300624
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycy... OMIM:268020
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis OMIM:607080
Fanconi Anemia, Complementation Group T
Pancytopenia, Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, Thromb... OMIM:616435
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Bardet-Biedl Syndrome 11
Hypogonadism OMIM:615988
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Bruising susceptibility, Pigmented micronodular adrenocorti... OMIM:610475
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatiti... ORPHA:435651
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Male infertility, Pancytopenia, Crypto... OMIM:227650
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus, Polycystic ovaries, Telangiectasia o... ORPHA:100
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia OMIM:616176
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... OMIM:604367
Fanconi Anemia, Complementation Group O
Chromosome breakage, External genital hypoplasia, Cryptorchidism OMIM:613390
Premature Ovarian Failure 12
Primary amenorrhea, Microphthalmia OMIM:616947
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Cryptorchidism, Anemia, ... OMIM:600901
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Cataract-Deafness-Hypogonadism Syndrome
Hypogonadism ORPHA:1383
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume... OMIM:620044
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Fanconi Anemia, Complementation Group S
Anemia, Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma OMIM:617883
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... ORPHA:232
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Short stature, Microphthalmia, Growth delay ORPHA:2528
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Menorrhagia, Impaired platelet aggregation OMIM:124900
Spastic Paraparesis-Deafness Syndrome
Hypogonadism ORPHA:2815
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hepatosplenomegaly, Hypothyroidism, Reticulocyt... ORPHA:300298
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Micropenis OMIM:615983
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil... ORPHA:91349
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries ORPHA:1580
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adre... OMIM:609981
Bone Marrow Failure Syndrome 3
Chromosome breakage, Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobi... OMIM:617052
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon... ORPHA:3464
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity, External genital hypoplasia, Cryptorchidism, Microphthalmia ORPHA:363741
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Cryptorchidism ORPHA:261483
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Primary amenorrhea, Micropenis, Decreased serum leptin OMIM:614962
Preeclampsia
Elevated systolic blood pressure, Type I diabetes mellitus, Elevated diastolic blood pressure, Po... ORPHA:275555
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic cardiomyopathy, Dysme... ORPHA:79083
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Neutropenia OMIM:617243
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph... ORPHA:528
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Gordon Holmes Syndrome
Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe... OMIM:212840
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Cryptorchidism, Anemia, ... OMIM:227645
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Small for gestational age, Microphthalmia OMIM:278780
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Deafness, Conductive, With Malformed External Ear
Hypogonadism OMIM:221300
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage ORPHA:543
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Bardet-Biedl Syndrome 10
Hypogonadism OMIM:615987
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Cryptorchidism, Microphthalmia OMIM:601794
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut... OMIM:618849
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Polyembryoma
Irregular menstruation, Increased serum serotonin, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia OMIM:613554
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Fanconi Anemia, Complementation Group P
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Cryptorchidism OMIM:613951
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microphthalmia ORPHA:2432
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Dysmenorrhea, Polycystic ovaries, Pancreat... ORPHA:2348
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Hyperinsulinemia, Pancreatic islet-cell hyp... OMIM:246200
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Delayed me... OMIM:151100
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Transcobalamin Deficiency
Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Azoospermia, Type II diabetes mellitus,... OMIM:210900
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes... OMIM:615109
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocytic anemia, Elevated circulatin... OMIM:620501
Partington Syndrome
Macroorchidism ORPHA:94083
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadi... ORPHA:848
Image Syndrome
Hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism ORPHA:85173
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Cryptorchidism OMIM:615982
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism OMIM:254000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypo... OMIM:610628
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Decreased fertility, Abnormal testis morphology ORPHA:2233
Cofs Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia, Hypogonadism ORPHA:1466
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypothyroidism, Hyperthyroi... OMIM:158350
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... ORPHA:3363
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase... ORPHA:231222
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Dys... ORPHA:3109
Fanconi Anemia, Complementation Group F
Microphallus, Decreased response to growth hormone stimulation test, Leukopenia, Cryptorchidism, ... OMIM:603467
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia ORPHA:261250
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Failure to thrive, Microphthalmia OMIM:274270
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Leukemia, Pancytopen... OMIM:227646
2Q24 Microdeletion Syndrome
Growth delay, Small for gestational age, Failure to thrive, Microphthalmia ORPHA:1617
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Peutz-Jeghers Syndrome
Intestinal bleeding, Uterine neoplasm, Ovarian cyst, Precocious puberty with Sertoli cell tumor, ... OMIM:175200
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Type II diabetes m... ORPHA:91
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Stt3B-Cdg
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia ORPHA:370924
Hemochromatosis, Type 2B
Hypogonadism, Splenomegaly, Anemia, Secondary amenorrhea OMIM:613313
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume, Decreased methylmalonyl-CoA mutase activity OMIM:277410
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:615524
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163976
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Hypogonadism, Thrombocytopenia, Micropenis,... OMIM:300514
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Diffuse Neonatal Hemangiomatosis
Anemia, Abnormal vagina morphology, Thrombocytopenia ORPHA:2123
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia OMIM:615597
Nanophthalmos
Microphthalmia ORPHA:35612
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Crandall Syndrome
Hypogonadism, Hypoplasia of penis, Abnormal testis morphology ORPHA:202
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Abnormality of the thyroid gland, Decreas... ORPHA:2234
Hemochromatosis, Type 3
Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Neutropenia, Anemia, Impotence OMIM:604250
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Genital ulcers, Thrombocytopenia OMIM:616744
Amed Syndrome, Digenic
Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Anemia, Hypoplasia of t... OMIM:619151
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Acquired Generalized Lipodystrophy
Cardiomyopathy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnormal cardiovascular sy... ORPHA:79086
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Intrauterine growth retardation, Microphthalmia, Micropenis, Growth delay, Small f... OMIM:610756
Transaldolase Deficiency
Anemia, Abnormal clitoris morphology, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
Warburg Micro Syndrome 1
Failure to thrive, External genital hypoplasia, Cryptorchidism, Microphthalmia, Short stature OMIM:600118
Nanophthalmos 4
Microphthalmia OMIM:615972
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Type I diabetes mellitus, Polycystic ovaries, Premature thelarche, Nodula... ORPHA:371428
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Pancytopenia, Thrombocytopenia OMIM:613987
Seckel Syndrome 2
Growth delay, Microphthalmia, Short stature, Hypospadias, Small for gestational age OMIM:606744
Fryns Microphthalmia Syndrome
Unicornuate uterus, Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... ORPHA:95619
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Pancreatic hypoplasia, Increased mean corpuscular volume, Hyp... ORPHA:811
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Cystic Echinococcosis
Renal cyst, Abnormality of the testis size, Hepatic cysts, Ovarian cyst ORPHA:400
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Conductive Deafness-Malformed External Ear Syndrome
Hypogonadism ORPHA:3216
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Thrombocytopenia,... OMIM:249270
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism ORPHA:88637
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Pancytopenia, Type II diabetes mellitus, Cry... ORPHA:99812
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi... OMIM:300869
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor... OMIM:617443
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Cardiomyopathy, Hydrometrocolpos, Hypog... ORPHA:110
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Pierpont Syndrome
Failure to thrive, Cryptorchidism, Decreased body weight, Micropenis, Microphthalmia, Short stature OMIM:602342
Alg9-Cdg
Tricuspid regurgitation, Hepatic cysts, Hypoplastic nipples, Hypoplasia of the ovary, Bicornuate ... ORPHA:79328
Spinocerebellar Ataxia, Autosomal Recessive 16
Hypogonadism OMIM:615768
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Abnormal atrioventricular conduction, Congestive heart failure, Hype... ORPHA:280365
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
Fanconi Anemia, Complementation Group L
Chromosome breakage, Aplasia of the uterus, Anemia, Chromosomal breakage induced by crosslinking ... OMIM:614083
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Decreased testicular size, Hypoplasia of the ovary OMIM:619321
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Lig4 Syndrome
Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Amenorrhea, Hypothyroidism, Thrombocytop... OMIM:606593
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Thrombocytopenia OMIM:615750
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration OMIM:620478
Moynahan Syndrome
Hypogonadism ORPHA:2574
X-Linked Intellectual Disability, Miles-Carpenter Type
Hypogonadism ORPHA:85283
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Abnormality of the uterus, Intrauterine growth retardation, ... ORPHA:2470
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Diabetes mellitus OMIM:615981
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Infertility OMIM:602390
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Cryptorchidism, Microphthalmia OMIM:164180
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus OMIM:269880
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Telangiectasia of the skin, Aplasia/Hypoplasia of the thymus, ... ORPHA:2176
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Intrauterine growth retardation, Microphthalmia ORPHA:48431
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Lessel-Kubisch Syndrome
Hypogonadism OMIM:618681
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Multiple ren... ORPHA:2869
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Cardiomyopathy, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea, Delayed... ORPHA:264580
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Delayed puberty OMIM:615270
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias OMIM:615985
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Oligomenorrhea, Dysmenorrhea, Polycystic ovaries ORPHA:79240
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Wolfram Syndrome 1
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Absence of pubertal development OMIM:615267
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Testicular seminoma, Cryptorchidism, Acute leukemia ORPHA:281090
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Mirage Syndrome
Microphallus, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Leukopenia, Cryptorc... OMIM:617053
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Telangiectasia of the skin ORPHA:276280
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Pierpont Syndrome
Small for gestational age, Cryptorchidism, Microphthalmia ORPHA:487825
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Bardet-Biedl Syndrome 7
Hypogonadism OMIM:615984
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:616171
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Hypothyroidism, Chromosomal breakage induc... OMIM:609053
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... OMIM:151660
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... OMIM:615925
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Björnstad Syndrome
Hypogonadism ORPHA:123
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... OMIM:618160
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Fanconi Anemia, Complementation Group R
Anemia, Chromosomal breakage induced by crosslinking agents OMIM:617244
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter ORPHA:3327
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Hypogonadism, Decreased fertility, Hypogonadotropic hypogonadism, Abnormali... ORPHA:1173
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Impotence, Abnormality of endocrine pancreas physiology, Diabetes mellitus ORPHA:79230
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Ovarian cyst OMIM:618188
Bresek Syndrome
Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Microphthalmia, Growt... ORPHA:85284
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Quebec Platelet Disorder
Thrombocytopenia, Menorrhagia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism OMIM:251240
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Joubert Syndrome 37
Decreased testicular size, Obesity, Cryptorchidism, Micropenis, Microphthalmia, Short stature OMIM:619185
Bardet-Biedl Syndrome 22
Hypogonadism OMIM:617119
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Hypogonadism, Intrauterine growth retardation, Encephalocele, Cryptorchidism, Micr... ORPHA:228390
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Malaria
Anemia, Thrombocytopenia ORPHA:673
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Menorrhagia, Increased... ORPHA:182050
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Cat-Eye Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:195
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Micropenis, Microphthalmia, Short stat... OMIM:610125
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Pancytopenia, Chromosomal breakage induced by crosslinking age... OMIM:620133
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c... ORPHA:158057
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Cardiomyopathy, Labial hypertrophy, Hyperinsulinemia, Polycystic ovaries, D... OMIM:608594
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Diabetes insipidus, Di... OMIM:598500
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Sengers Syndrome
Premature ovarian insufficiency, Thrombocytopenia OMIM:212350
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Ambiguous genitalia, Microphthalmia OMIM:613885
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Deafness-Hypogonadism Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Increased circulating ACTH level, Abnormal circula... ORPHA:90790
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Congenital Toxoplasmosis