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

IMPC Data Collections

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

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.

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Precocious puberty, Polycystic ovaries ORPHA:2229
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Ovarian cyst, Joint hemorrhage, Gastrointestinal hemorrhage, In... ORPHA:327
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Increased circulating gonadotropin level, Male hypogonadism, Abnormal vagina morphol... ORPHA:168563
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Hypopl... OMIM:615300
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Hypergonadotropic hypogonadi... ORPHA:347
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Cone-Rod Dystrophy 1
Hypogonadism OMIM:600624
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Decreased mean corpuscular volume, Anemia, Splenomegaly, Hypogonadism, ... OMIM:615234
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, H... ORPHA:66628
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:2138
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of... ORPHA:243
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism ORPHA:1180
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, H... ORPHA:179494
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... ORPHA:3130
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hypertension, Polycystic ovaries, Pancreatitis, Diabetes mellitus ORPHA:79084
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hypertension, Polycystic ovaries, Abnormal circula... ORPHA:280356
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Enlarged ... ORPHA:90301
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
Premature Ovarian Failure 8
Increased circulating gonadotropin level, Ovarian neoplasm, Premature ovarian insufficiency, Prim... OMIM:615723
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Deafness, Congenital, With Total Albinism
Hypogonadism OMIM:220900
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Hypogonadism, Abnormality of the ovary ORPHA:1875
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia OMIM:248110
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Hypog... ORPHA:141333
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Prader-Willi syndrome (Type 1)
Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism DECIPHER:53
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia OMIM:209970
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary a... ORPHA:3085
Bardet-Biedl Syndrome
Cryptorchidism, Hypertension, Hypoplasia of penis, Hypogonadism, Hypoplasia of the ovary ORPHA:110
N Syndrome
Cryptorchidism, Leukemia, Abnormality of chromosome stability, Hypospadias OMIM:310465
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Preeclampsia
Elevated systolic blood pressure, Hypertension, Polycystic ovaries, Type I diabetes mellitus, Ele... ORPHA:275555
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Micropenis, Hypoplasia of penis ORPHA:85274
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Cryptorchidism, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Micropenis, Hemorrhagic ovarian cyst, Tachycardia, Gingiv... ORPHA:335
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism ORPHA:1014
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spastic Paraparesis And Deafness
Hypogonadism OMIM:312910
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Bardet-Biedl Syndrome 11
Hypogonadism OMIM:615988
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea OMIM:607080
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability OMIM:175800
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Delayed puberty OMIM:615270
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Tetrasomy X
Premature ovarian insufficiency ORPHA:9
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Secondary amenorrhea, Insulin-resistant diabetes mellitus, Polycy... OMIM:268020
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hypovolemia, Enlarged polycystic ovaries,... ORPHA:64739
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Bardet-Biedl Syndrome 22
Hypogonadism OMIM:617119
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size, Premature ovarian insufficiency ORPHA:261483
Bardet-Biedl Syndrome 12
Hypogonadism OMIM:615989
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Increased urinary 11-deoxycorticosterone level, Decreased circulating re... ORPHA:90795
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Ataxia-Telangiectasia
Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Telangiectasia ... ORPHA:100
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hypertension, Polycystic ovaries, Primary am... OMIM:604367
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Micropenis, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Decreased mean corpuscular volume, Hypothyroidism, Reticulocytopenia, Anisopoikilocy... ORPHA:300298
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Fanconi Anemia, Complementation Group A
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi... OMIM:227650
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian neoplasm, Anemia OMIM:617883
Cataract-Deafness-Hypogonadism Syndrome
Hypogonadism ORPHA:1383
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Isolated Growth Hormone Deficiency, Type V
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity, Decreased respon... OMIM:618160
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Spastic Paraparesis-Deafness Syndrome
Hypogonadism ORPHA:2815
Bardet-Biedl Syndrome 5
Hypogonadism, Micropenis, External genital hypoplasia OMIM:615983
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency OMIM:615889
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Growth delay, Microphthalmia, Short stature ORPHA:2528
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:601217
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Abnormality of chromosome stability,... OMIM:210900
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Nanophthalmos 4
Microphthalmia OMIM:615972
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Fanconi Anemia, Complementation Group E
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi... OMIM:600901
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism OMIM:254000
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Immunodeficiency 54
Adrenocorticotropic hormone excess, Reduced natural killer cell count, Adrenal insufficiency, Spl... OMIM:609981
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, External genital hypoplasia, Microphthalmia, Hypogonadism, Obesity ORPHA:363741
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Short stature, Postnatal growth retardation OMIM:616113
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Cryptorchidism, Ambiguous genitalia, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435660
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Precocious puberty in females, ... ORPHA:528
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Decreased testicular size, Thrombocytopenia OMIM:601815
Leopard Syndrome 1
Cryptorchidism, Bundle branch block, Aplasia of the ovary, Hypertrophic cardiomyopathy, Pulmonic ... OMIM:151100
Lig4 Syndrome
Cryptorchidism, Amenorrhea, Hypothyroidism, Thrombocytopenia, Pancytopenia, Micropenis OMIM:606593
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Primary Lipodystrophy
Angina pectoris, Menometrorrhagia, Hypertension, Polycystic ovaries, Congestive heart failure, Pa... ORPHA:90970
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:614962
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Testicular atrophy, Pancytopenia OMIM:613987
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Ovarian Fibroma
Ovarian fibroma, Abnormality of the ovary, Gonadal calcification ORPHA:314473
Bardet-Biedl Syndrome 10
Hypogonadism OMIM:615987
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia OMIM:613554
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Oligomenorrhea, Primary amenorrhea, Hypertension, Polycystic ovaries, Insulin-... ORPHA:79083
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Chromosome breakage, Micropenis, Anemia OMIM:614083
Faciothoracogenital Syndrome
Glandular hypospadias, Shawl scrotum, Microphthalmia, Prominent scrotal raphe OMIM:227320
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Image Syndrome
Cryptorchidism, Hypogonadism, Adrenal hypoplasia, Hypospadias ORPHA:85173
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Donohue Syndrome
Ovarian cyst, Long penis, Hyperinsulinemia, Clitoral hypertrophy, Precocious puberty, Pancreatic ... OMIM:246200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Microphthalmia, Obesity OMIM:601794
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage ORPHA:543
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Fanconi Anemia, Complementation Group C
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi... OMIM:227645
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microphthalmia ORPHA:2432
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Neutropenia, Anemia, Increased mean cor... OMIM:618849
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Secondary amenorrhea, Congestive heart failure, Pancreatitis, Dysmenorrhea, D... ORPHA:2348
Deafness, Conductive, With Malformed External Ear
Hypogonadism OMIM:221300
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism OMIM:253320
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Polyembryoma
Abnormality of the endocrine system, Irregular menstruation, Macroorchidism, Increased serum sero... ORPHA:180229
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... OMIM:610628
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Wt Limb-Blood Syndrome
Cryptorchidism, Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Anemia, Macrothrombocytopenia OMIM:616176
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615108
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Anemia, Splenomegaly, Hypogonadotropic hypog... ORPHA:848
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Bardet-Biedl Syndrome 19
Hypogonadism, External genital hypoplasia OMIM:615996
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615109
Partington Syndrome
Macroorchidism ORPHA:94083
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Intestinal bleeding, Uterine neoplasm, ... OMIM:175200
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... OMIM:155100
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Cryptorchidism, Increased mean corpuscular volume ORPHA:261250
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Microphthalmia, Anophthalmia OMIM:615524
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia OMIM:615982
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism, Premature ovarian insufficiency OMIM:618625
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Decreased mean corpuscular volume, Leukocytosis, Hypothyroidism, Ext... ORPHA:231222
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Bilateral microphthalmos, Postnatal growth retardation, Male pseudohermaphroditism,... OMIM:600122
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency OMIM:618124
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Endometrial carcinoma, Pancreatic adenocarcinoma ORPHA:454840
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Decreased fertility, Abnormal testis morphology ORPHA:2233
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia, Failure to thrive OMIM:274270
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Transcobalamin Deficiency
Abnormality of chromosome stability, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia ORPHA:859
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Ovarian carcinoma, Thyroid a... OMIM:158350
Bardet-Biedl Syndrome 16
Hypogonadism, External genital hypoplasia OMIM:615993
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Urogenital sinus anomaly, Chordee, Streak ovary, Uterus didelphys, Hypospadias, C... OMIM:618820
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Cofs Syndrome
Intrauterine growth retardation, Hypogonadism, Microphthalmia, Short stature ORPHA:1466
Stt3B-Cdg
Thrombocytopenia, Cryptorchidism, Scrotal hypoplasia, Micropenis ORPHA:370924
Fanconi Anemia, Complementation Group F
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Microphallus, Thrombocytopen... OMIM:603467
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Alg1-Cdg
Hypogonadism ORPHA:79327
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Hemochromatosis, Type 3
Amenorrhea, Lymphopenia, Impotence, Neutropenia, Anemia, Hypogonadotropic hypogonadism OMIM:604250
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
2Q24 Microdeletion Syndrome
Growth delay, Small for gestational age, Microphthalmia, Failure to thrive ORPHA:1617
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Hemochromatosis, Type 2B
Hypogonadism, Anemia, Splenomegaly OMIM:613313
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Premature ovarian insufficiency ORPHA:2928
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi... OMIM:227646
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia, Genital ulcers OMIM:616744
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Abnormal vagina morphology, Anemia ORPHA:2123
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Crandall Syndrome
Hypogonadism, Hypoplasia of penis, Abnormal testis morphology ORPHA:202
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:1359
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Delayed puberty, Anemia of inadequate production, Decre... OMIM:609628
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Primary adrenal insufficiency, Hypogonadism OMIM:617872
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Scrotal hypoplasia, Decreased fertility, Abnormality of the thyroid gland, Type II diabetes melli... ORPHA:2234
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Seckel Syndrome 2
Growth delay, Small for gestational age, Microphthalmia, Short stature, Hypospadias OMIM:606744
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Hypogonadotropic hypogonadism, Micropenis OMIM:612702
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Anemia, L... OMIM:619151
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
+173470 integrin, beta-3
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Menorrhagia, Post-transf... OMIM:173470
Shwachman-Diamond Syndrome
Chronic neutropenia, Neutropenia, Hypopituitarism, Impaired neutrophil chemotaxis, Pancytopenia, ... ORPHA:811
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Menorrhagia, Giant platelets OMIM:231200
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... OMIM:153640
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Clitoral hypertrophy, Spontan... ORPHA:96181
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Hypogonadism, Central adrenal insufficiency, Delayed puberty OMIM:612079
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal cardiovascular system physiology, Hypertension, Polycystic ovaries, Ac... ORPHA:79086
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616171
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Thrombocytopenia, Aplastic a... OMIM:300514
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Abnormality of the clitoris, Anemia ORPHA:101028
Nanophthalmos
Microphthalmia ORPHA:35612
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Senior-Loken Syndrome
Premature ovarian insufficiency, Hypertension ORPHA:3156
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Warburg Micro Syndrome 1
Cryptorchidism, External genital hypoplasia, Microphthalmia, Short stature, Failure to thrive OMIM:600118
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Scrotal hypoplasia, Small for gestational age, Microphthalmia, Intrauterine growth ... OMIM:610756
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Cryptorchidism, Scrotal hypoplasia, Micropenis OMIM:615597
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Alpha-Heavy Chain Disease
Premature ovarian insufficiency, Anemia, Splenomegaly ORPHA:100025
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Impotence, Pituitary hypothyroidism,... ORPHA:251623
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Spinocerebellar Ataxia, Autosomal Recessive 16
Hypogonadism OMIM:615768
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia,... OMIM:249270
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Moynahan Syndrome
Hypogonadism ORPHA:2574
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Polycystic ovaries, Atrioventricular block, Type I diabetes mellitus, Nodular goite... ORPHA:371428
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Microphthalmia, Failure to thrive, Anophthalmia, Intra... ORPHA:2470
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Type II diabetes mellitus... OMIM:616860
Conductive Deafness-Malformed External Ear Syndrome
Hypogonadism ORPHA:3216
Wolfram Syndrome 1
Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism ORPHA:88637
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:48431
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Decreased serum leptin, Supraventricular arrhythmia, Polycystic ovaries, ... ORPHA:280365
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... ORPHA:163971
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Hemochromatosis, Type 2A
Infertility, Azoospermia, Amenorrhea, Splenomegaly, Hypogonadotropic hypogonadism OMIM:602390
Lig4 Syndrome
Cryptorchidism, Abnormality of chromosome stability, Leukocytosis, Hypothyroidism, Pancytopenia, ... ORPHA:99812
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Post-Traumatic Pituitary Deficiency
Infertility, Panhypopituitarism, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... ORPHA:95619
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Oligomenorrhea, Irregular menstruation, Polycystic ovaries, Delayed puberty, Dysmenorrhea, Cardio... ORPHA:370
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism OMIM:300055
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma, Telangiectasia of the skin ORPHA:276280
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Micropenis, Hypoplasia of the ovary OMIM:619321
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Pierpont Syndrome
Cryptorchidism, Decreased body weight, Microphthalmia, Failure to thrive, Short stature, Micropenis OMIM:602342
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Telangie... ORPHA:2176
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation, Menorrhagia OMIM:617443
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets, Abnormality of the endocrine system OMIM:608404
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Splenomegaly OMIM:608540
X-Linked Intellectual Disability, Miles-Carpenter Type
Hypogonadism ORPHA:85283
Lessel-Kubisch Syndrome
Hypogonadism OMIM:618681
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Diabetes insipidus, Hypogonadism, Diabetes mellitus ORPHA:181393
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of chromosome stability, Chromosome breakage OMIM:208910
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:614838
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Oligomenorrhea, Irregular menstruation, Polycystic ovaries, Delayed puberty, Dysmenorrhea, Cardio... ORPHA:264580
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Hypogonadism, Testicular seminoma, Acute leukemia ORPHA:281090
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size ORPHA:400
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, External genital hypoplasia OMIM:615981
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter ORPHA:3327
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Cryptorchidism, Ambiguous genitalia ORPHA:1237
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Björnstad Syndrome
Hypogonadism ORPHA:123
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Shawl scrotum, Thrombo... OMIM:617053
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia of penis, Hyp... ORPHA:791
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos, Amenorrhea OMIM:237100
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Primary amenorrhea OMIM:244200
Bardet-Biedl Syndrome 8
Hypospadias, Hypogonadism OMIM:615985
Leukoencephalopathy With Vanishing White Matter
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Decreased circulating ... OMIM:603896
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Neutropenia, Hypothyroidism, Decreased respo... OMIM:609053
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism OMIM:251240
Pierpont Syndrome
Cryptorchidism, Small for gestational age, Microphthalmia ORPHA:487825
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr... OMIM:262600
Fibrous Dysplasia Of Bone
Ovarian cyst, Elevated circulating growth hormone concentration, Increased circulating cortisol l... ORPHA:249
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Menorrhagia OMIM:601709
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hyperinsulinemia, Hypertension, Polycystic ovaries, Acute pancreatitis,... OMIM:151660
Hemochromatosis Type 2
Hypogonadism, Diabetes mellitus, Impotence, Abnormality of endocrine pancreas physiology ORPHA:79230
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Delayed puberty, Abnormal spermatogenesis ORPHA:90646
Oculocerebrocutaneous Syndrome
Cryptorchidism, Microphthalmia, Anophthalmia OMIM:164180
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Cryptorchidism, Hypothyroidism, Anemia OMIM:608104
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Bresek Syndrome
Cryptorchidism, Growth delay, Optic nerve hypoplasia, Microphthalmia, Intrauterine growth retarda... ORPHA:85284
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Microphthalmia, Short stature OMIM:612530
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Hypogonadism, Decreased serum testosterone concentration, Splenomegaly OMIM:201100
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Cryptorchidism, Neutropenia, Anemia OMIM:614857
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin... ORPHA:231226
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility, Supernumerary nipple, Abnormali... ORPHA:1173
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes insipidus, Di... OMIM:598500
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism OMIM:268050
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Menorrhagia, Giant platelets, Neutro... ORPHA:182050
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Beta-Thalassemia Major
Hypochromic microcytic anemia, Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin... ORPHA:231214
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Enlarged ovaries, Abnormality of circulating lep... ORPHA:2298
Autoimmune Polyendocrinopathy Type 2
Graves disease, Primary adrenal insufficiency, Hashimoto thyroiditis, Abnormality of the thyroid ... ORPHA:3143
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Ebola Hemorrhagic Fever
Thrombocytopenia, Metrorrhagia, Leukopenia ORPHA:319218
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Decreased serum leptin, Hyperinsulinemia, Acute pancreatitis, Pol... OMIM:269700
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Decreased serum leptin, Hyperinsulinemia, Polycystic ovaries, Acu... OMIM:608594
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... OMIM:139090
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Galactosemia I
Hypergonadotropic hypogonadism, Hemolytic anemia, Premature ovarian insufficiency OMIM:230400
Cat-Eye Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:195
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Mild short stature, Decreased body weight, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:614833
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Pontocerebellar Hypoplasia, Type 15