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Gene: Hmga2 MGI:101761

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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:
high mobility group AT-hook 2
Synonyms:
Hmgic,  HMGI-C,  9430083A20Rik

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 Hmga2 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 Hmga2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Silver-Russell Syndrome Due To A Point Mutation
Dysmenorrhea, Small for gestational age, Cryptorchidism, Low-set ears, Polydactyly, Microphallus,... ORPHA:397590
Silver-Russell Syndrome 5
Small for gestational age, Intrauterine growth retardation, Relative macrocephaly, Birth length l... OMIM:618908
12Q14 Microdeletion Syndrome
Horseshoe kidney, Ectopic kidney, Diabetes mellitus, Intrauterine growth retardation, Short statu... ORPHA:94063
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971

The table below shows human diseases predicted to be associated to Hmga2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 50
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Isochromosomy Yp
Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia ORPHA:98797
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 65
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619712
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Varicocele, Azoospermia, Gonadal tissue inappropr... ORPHA:98798
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... OMIM:301059
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure 54
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... OMIM:619379
Spermatogenic Failure 56
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619515
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 39
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618643
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Spermatogenic Failure 58
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
X-Linked Intellectual Disability, Van Esch Type
Decreased testicular size, Cryptorchidism, Decreased serum testosterone concentration, Impaired s... ORPHA:163976
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Abnormality of the middle ear ossicles, Hypogonadism... ORPHA:3216
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 79
Coiled sperm flagella, Oligospermia, Male infertility, Reduced sperm motility OMIM:620196
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Reduced sperm motility, Absent sperm axoneme ... OMIM:619177
Coxoauricular Syndrome
Microtia, Short stature, Hearing impairment OMIM:122780
Ring Chromosome Y Syndrome
Ambiguous genitalia, Streak ovary, Male infertility, Abnormal spermatogenesis, Male hypogonadism,... ORPHA:261529
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 7
Immotile sperm, Oligospermia, Male infertility, Reduced sperm motility OMIM:612997
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Wilson-Turner Syndrome
Uplifted earlobe, Cryptorchidism, Truncal obesity, Short stature, Thick eyebrow, Tapered finger, ... ORPHA:3459
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Xq27.3Q28 Duplication Syndrome
Premature ovarian insufficiency, Sparse body hair, Cryptorchidism, Decreased testicular size, Hyp... ORPHA:261483
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Cryptorchidism, Micropenis, Hypogonadism, Short stature, Tapered finger, Hypopl... ORPHA:85274
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
X-Linked Intellectual Disability, Cabezas Type
Macrocephaly, Decreased testicular size, Biparietal narrowing, High palate, Hypogonadism, Short s... ORPHA:85293
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility OMIM:108420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Meier-Gorlin Syndrome 8
Low-set ears, Intrauterine growth retardation, Bilateral cryptorchidism, Decreased body weight, M... OMIM:617564
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Primary amenorrhea, Frontal balding, Synophrys, Abnormality o... ORPHA:247768
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Caudal Appendage-Deafness Syndrome
Infantile sensorineural hearing impairment, Cryptorchidism, Abnormal digit morphology, Short stature ORPHA:1123
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus, Male hypogonadism, Decreased serum... ORPHA:432
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Reduc... OMIM:618433
Spermatogenic Failure 77
Cryptorchidism, Azoospermia, Multiflagellar spermatozoa, Male infertility, Oligospermia OMIM:620103
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Macrocephaly/Autism Syndrome
Biparietal narrowing, High palate, Penile freckling, Midface retrusion, Hydrocele testis, Postnat... OMIM:605309
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome, Hypospadias OMIM:201710
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the humerus, Alopecia universalis, Abnormality of the ova... ORPHA:3130
Seckel Syndrome 7
Severe short stature, Primary amenorrhea, Central hypothyroidism, Intrauterine growth retardation... OMIM:614851
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Hyperprolactinemia
Oligomenorrhea, Female infertility, Increased circulating prolactin concentration, Menorrhagia OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Obesity OMIM:615703
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Ambiguous genitalia, Short ... ORPHA:243
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Cryptorchidism, Short thumb, Hearing impairment OMIM:274205
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Ataxia, Dif... ORPHA:320391
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90796
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Small for gestat... ORPHA:1916
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Bardet-Biedl Syndrome 8
Obesity, Brachycephaly, Hypogonadism, Hypospadias OMIM:615985
Oliver-Mcfarlane Syndrome
Delayed puberty, Small for gestational age, Long eyelashes, Cryptorchidism, Severe short stature,... OMIM:275400
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Craniosynostosis 1
Craniosynostosis, Biparietal narrowing, Right unicoronal synostosis, Oxycephaly, Prominent occipu... OMIM:123100
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Primary amenorrh... OMIM:612964
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... OMIM:614840
Lig4 Syndrome
Biparietal narrowing, Cryptorchidism, Brachycephaly, Hypothyroidism, Malabsorption, Hypoplasia of... ORPHA:99812
Perrault Syndrome 4
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... OMIM:615300
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Primary amenorrhea, Abnormal eyebrow morphology, Contracture of the proximal int... ORPHA:2232
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Toluene Embryopathy
Hydronephrosis, Biparietal narrowing, Cryptorchidism, Short stature, Microcephaly ORPHA:1920
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Hypogonadotropic hypogonadism, Microtia ORPHA:939
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Hypoplasia o... ORPHA:168563
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Short stature, Hypop... OMIM:614129
Mosaic Trisomy 14
Camptodactyly of finger, Cryptorchidism, Low-set, posteriorly rotated ears, Hypoplasia of penis, ... ORPHA:1703
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Sparse axillary hair, ... OMIM:146110
Johnson Neuroectodermal Syndrome
Hand polydactyly, Conductive hearing impairment, Severe short stature, Hypogonadism, Protruding e... ORPHA:2316
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
X-Linked Intellectual Disability, Cilliers Type
Decreased testicular size, Cryptorchidism, Decreased serum testosterone concentration, Shyness, S... ORPHA:163971
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
8P23.1 Microdeletion Syndrome
Biparietal narrowing, High palate, Cryptorchidism, Obesity, Intrauterine growth retardation, Shor... ORPHA:251071
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Biparietal narrowing, Polycystic ovaries, Abnormality of the ureter, Short stature, Cleft palate,... ORPHA:1770
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Satoyoshi Syndrome
Alopecia universalis, Short metacarpal, Short stature, Alopecia, Osteolytic defects of the phalan... OMIM:600705
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Bowen-Conradi Syndrome
Camptodactyly of finger, Cryptorchidism, Severe postnatal growth retardation, Severe intrauterine... ORPHA:1270
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Increased incisura length, Stenosis of the external auditory canal, Ove... OMIM:612290
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Young Syndrome
Azoospermia OMIM:279000
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility OMIM:261550
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, Hypergonadotropic ... OMIM:618078
Androgen Insensitivity Syndrome
Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Male pseudohermaphrodi... ORPHA:754
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... OMIM:617442
Macrocephaly, Benign Familial
Macrocephaly, Biparietal narrowing, Dolichocephaly, Frontal bossing OMIM:153470
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Non-Distal Deletion 10Q
Biparietal narrowing, Gait disturbance, Cognitive impairment, Ataxia ORPHA:1581
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Cryptorchidism, Low-set, posteriorly rotated ears, Hypogonadism, Finger ... ORPHA:110
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... ORPHA:251510
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia ORPHA:48
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... OMIM:611548
47,Xyy Syndrome
Macrocephaly, Increased serum testosterone level, Cryptorchidism, Impaired social interactions, M... ORPHA:8
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Delayed puberty, Testicular... ORPHA:52901
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... OMIM:618117
Monosomy 18Q
Biparietal narrowing, High palate, Slender build, Micropenis, Hypothyroidism, Short stature, Fail... ORPHA:1600
Orofaciodigital Syndrome Type 6
Biparietal narrowing, High palate, Gait disturbance, Ataxia, Short stature, Tongue nodules, Failu... ORPHA:2754
Mosaic Trisomy 9
Hydronephrosis, Biparietal narrowing, Cryptorchidism, High palate, Horseshoe kidney, Multiple ren... ORPHA:99776
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Ovarian Dysgenesis 5
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:617690
Tetraploidy
Hydronephrosis, Biparietal narrowing, Aplasia/Hypoplasia of the thymus, Intrauterine growth retar... ORPHA:3305
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... OMIM:619834
Functioning Gonadotropic Adenoma
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... ORPHA:91348
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Sparse body hair, Cryptorchidism, Decreased testicular size, Hypogonad... OMIM:300869
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... OMIM:614837
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Infertility, Azoospermia OMIM:229070
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism, Thick eyebrow, Tapered finger OMIM:309585
Non-Functioning Pituitary Adenoma
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... ORPHA:91349
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Primary amenorrhea, Adrenogenital syndrome, Male pseudo... OMIM:202110
Spermatogenic Failure 28
Non-obstructive azoospermia, Decreased testicular size, Male infertility OMIM:618086
Prolactinoma
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... ORPHA:2965
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Biparietal narrowing, Abnormal calvaria morphology, High palate, Short stature, M... ORPHA:3079
Partial Androgen Insensitivity Syndrome
Primary amenorrhea, Ambiguous genitalia, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Cortisone Reductase Deficiency 1
Oligomenorrhea, Precocious puberty, Alopecia, Infertility, Hirsutism, Obesity OMIM:604931
Isotretinoin Syndrome
Biparietal narrowing, Cognitive impairment, Cleft palate ORPHA:2305
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Abnormal antih... ORPHA:79113
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Severe sensorineural hearing impairment, Hypogonadism, Synophr... ORPHA:2983
Pituicytoma
Hypopituitarism, Abnormal circulating adrenocorticotropin concentration, Increased circulating pr... ORPHA:251623
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased testicular size, Decreased body weight, Small for gestational age, Brachycephaly ORPHA:93950
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Male infertility OMIM:615842
1Q44 Microdeletion Syndrome
Biparietal narrowing, High palate, Horseshoe kidney, Short stature, Frontal bossing, Microcephaly... ORPHA:238769
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Hypogonadism ORPHA:2528
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome OMIM:103900
Chromosome 15Q26-Qter Deletion Syndrome
Small for gestational age, Cryptorchidism, Low-set ears, Micropenis, Intrauterine growth retardat... OMIM:612626
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Delayed puberty, Aplasia/Hypoplasia of the fallop... ORPHA:99429
Mucolipidosis Type Iv
Biparietal narrowing, Gait disturbance, Microcephaly, Ataxia ORPHA:578
Ring Chromosome 12 Syndrome
Small for gestational age, Cryptorchidism, Low-set ears, Abnormal 5th finger morphology, Breast h... ORPHA:1439
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Short stature, Hypoplasia of penis, Aplasia/Hy... ORPHA:3055
Kallmann Syndrome
Delayed puberty, Decreased testicular size, Cryptorchidism, Abnormal morphology of female interna... ORPHA:478
Familial Hyperprolactinemia
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst ORPHA:397685
Acromesomelic Dysplasia 3
Short finger, Elevated circulating luteinizing hormone level, Aplasia of the proximal phalanx of ... OMIM:609441
Fetal Alcohol Syndrome
Biparietal narrowing, Cognitive impairment, Intrauterine growth retardation, Short stature, Cleft... ORPHA:1915
Aromatase Deficiency
Cryptorchidism, Eunuchoid habitus, Primary amenorrhea, Hypergonadotropic hypogonadism, Ambiguous ... ORPHA:91
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Microcephalic Primordial Dwarfism, Dauber Type
Primary amenorrhea, Severe postnatal growth retardation, Obesity, Severe intrauterine growth reta... ORPHA:319675
Coxoauricular Syndrome
Microtia, Atresia of the external auditory canal, Short stature, Hearing impairment ORPHA:1508
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Nail dysplasia, Limited pronation/supination of forearm, Curly eyelashes, Cryptorchidism, Curly h... ORPHA:163654
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Low-set ears, Long eyelashes, Cryptorchidism, Overlapping toe, Intrauterine growth retardation, S... ORPHA:505237
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, Polydactyly, External genital hypoplasia, Syndactyly, Brachydactyly... OMIM:615982
Branchiootic Syndrome 1
Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ... OMIM:602588
Microtia
Abnormal pinna morphology, Hypoplastic helices, Atresia of the external auditory canal, Anotia, M... ORPHA:83463
Hao-Fountain Syndrome
Low-set ears, Cryptorchidism, Hallux valgus, Micropenis, Premature adrenarche, Clinodactyly of th... OMIM:616863
Trisomy 4P
Camptodactyly of finger, Radial club hand, Cryptorchidism, Low-set, posteriorly rotated ears, Abn... ORPHA:1738
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Secondary growth... ORPHA:2235
Joubert Syndrome With Renal Defect
Biparietal narrowing, Gait disturbance, Ataxia, Renal insufficiency, Nephropathy, Aganglionic meg... ORPHA:220497
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Small for gestational age, Cryptorchidism, Bilateral talipes equinovarus, Flexion contracture of ... ORPHA:319332
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Obesity, Polycystic ovaries, Short stature, Hyperinsul... ORPHA:3085
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Micropenis, Sparse eyelashes, Short stature, Failure to thrive, Sparse... ORPHA:370079
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Cryptorchidism, Micropenis, Toe syndactyly, Radioulnar synostosis, Short palm, Micr... ORPHA:171839
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Brachycephaly OMIM:300699
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Biparietal narrowing, Abnormal calvaria morphology, Intrauterine growth retardation, Short statur... ORPHA:1323
Lathosterolosis
Biparietal narrowing, High palate, Horseshoe kidney, Intrauterine growth retardation, Hypoplasia ... ORPHA:46059
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism, Synophrys, Low posterior hairline, Preaxial hand polyd... ORPHA:85287
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Hypoplasia of the antihelix, Cryptorchidism, Short thumb, Abnormal antihelix morphology, Intraute... ORPHA:2489
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Low-set ears, Synophrys, Hirsutism, Hypoplasia of the ulna, Clinodactyly, Decreased body weight, ... ORPHA:357175
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Low-set ears, Severe short stature, Micropenis, Congenital adrenal hypoplasia, Posteriorly rotate... OMIM:618336
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Short distal phalanx of finger, Camptodactyly of finger, Low-set, posteriorly ro... ORPHA:2994
16Q24.3 Microdeletion Syndrome
Biparietal narrowing, High palate, Cryptorchidism, Frontal bossing ORPHA:261250
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Decreased serum testosterone concentration, P... ORPHA:66628
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Alopecia, Hypergonadotropic hypogonadism OMIM:241090
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short distal phalanx of finger, Small for gestational age, Nail dysplasia, Low-set ears, Breast h... OMIM:614813
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Short stature, Microtia OMIM:248910
15Q14 Microdeletion Syndrome
Short stature, Biparietal narrowing, Microcephaly, Cleft palate ORPHA:261190
Polycystic Ovary Syndrome 1
Oligomenorrhea, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Obesity OMIM:184700
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Short stature, Biparietal narrowing, Intrauterine growth retardation, Microcephaly ORPHA:2518
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... OMIM:618841
Hemochromatosis, Type 2A
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism OMIM:602390
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Hearing impairment, Streak ova... ORPHA:1772
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Perineal hypospadias, Adrenal hyperplasia, Impaired cortisol response to corticotropin releasing ... OMIM:201810
Intellectual Developmental Disorder, Autosomal Recessive 35
Low-set ears, Synophrys, Hirsutism, Hypoplasia of the ulna, Clinodactyly, Decreased body weight, ... OMIM:615162
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Biparietal narrowing, Severe short stature, Intrauterine growth retardation, Microcephaly, Turric... ORPHA:1005
Joubert Syndrome With Oculorenal Defect
Biparietal narrowing, Ataxia, Renal insufficiency, Nephropathy, Aganglionic megacolon, Abnormalit... ORPHA:2318
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Decreased serum testosterone concentration, P... ORPHA:179494
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Biparietal narrowing, Renal cyst, Short stature, Glossoptosis, Multicystic kidney dysplasia ORPHA:2031
Cardiofaciocutaneous Syndrome
Hydronephrosis, Macrocephaly, Cryptorchidism, Biparietal narrowing, High palate, Failure to thriv... ORPHA:1340
Alazami-Yuan Syndrome
Long eyelashes, Cryptorchidism, Synophrys, Low anterior hairline, Short stature, Thick eyebrow, H... OMIM:617126
Gordon Syndrome
Camptodactyly of finger, Cryptorchidism, Finger syndactyly, Short stature, Hearing impairment, Cl... ORPHA:376
Adenylosuccinate Lyase Deficiency
Flat occiput, Brachycephaly ORPHA:46
Gómez-López-Hernández Syndrome
Midface retrusion, Brachycephaly, Turricephaly ORPHA:1532
Image Syndrome
Adrenal hypoplasia, Cryptorchidism, Low-set ears, Hypogonadism, Intrauterine growth retardation, ... ORPHA:85173
Mehmo Syndrome
Cryptorchidism, Micropenis, External genital hypoplasia, Diabetes mellitus, Tapered finger, Hypop... ORPHA:85282
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Biparietal narrowing, Brachycephaly, Intrauterine growth retardation, Short stature, Microcephaly... ORPHA:1292
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Hypospadias, Abnormal va... OMIM:194072
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Hypoplasia of the uterus, Irregular menstruation, Female inferti... OMIM:110100
Short Stature And Facioauriculothoracic Malformations
Low-set ears, Cupped ear, Overfolded helix, Proportionate short stature, Microtia OMIM:609654
Silver-Russell Syndrome Due To A Point Mutation
Dysmenorrhea, Small for gestational age, Cryptorchidism, Low-set ears, Polydactyly, Microphallus,... ORPHA:397590
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Long eyelashes, Posteriorly rotated ears, Short stature, Tapered finger, Small hand... OMIM:618089
Perrault Syndrome 2
Streak ovary, Sensorineural hearing impairment, Amenorrhea OMIM:614926
Joubert Syndrome
Biparietal narrowing, Gait disturbance, Ataxia, Aganglionic megacolon, Abnormality of the hypotha... ORPHA:475
Sickle Cell Disease
Cholelithiasis, Priapism OMIM:603903
49,Xyyyy Syndrome
Decreased testicular size, Eunuchoid habitus, External genital hypoplasia, Trigonocephaly, Abnorm... ORPHA:99330
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Cryptorchidism, Micropenis, Widely spaced toes, Hypoplasia of the prostate, Shor... OMIM:301900
Cornelia De Lange Syndrome 5
Limited elbow extension, Decreased testicular size, Long eyelashes, Cryptorchidism, Micropenis, H... OMIM:300882
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... ORPHA:90791
Premature Ovarian Failure 8
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:615723
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Camptodactyly of finger, Hallux valgus, Low-set, posteriorly rota... ORPHA:1327
Joubert Syndrome With Ocular Defect
Biparietal narrowing, Gait disturbance, Ataxia, Aganglionic megacolon, Cleft palate, Abnormality ... ORPHA:220493
Non-Distal Duplication 10Q
Frontal bossing, Cryptorchidism, Brachycephaly ORPHA:1695
Leydig Cell Hypoplasia
Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:755
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... OMIM:300200
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Abnormality of the Leydig cells, Micropenis, Sparse axillary hai... OMIM:228300
3Q29 Microduplication Syndrome
Craniosynostosis, Macrocephaly, Biparietal narrowing, High palate, Cleft palate, Ectopic anus, Mi... ORPHA:251038
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Potocki-Shaffer Syndrome
Turricephaly, Brachycephaly, Micropenis, Parietal foramina OMIM:601224
Gordon Holmes Syndrome
Oligomenorrhea, Primary amenorrhea, Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence ... OMIM:212840
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... OMIM:615363
Distal Deletion 17Q
Deviation of finger, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormal... ORPHA:1597
Lead Poisoning
Abnormal sperm morphology, Delayed puberty, Impaired social interactions, Small for gestational a... ORPHA:330015
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Cryptorchidism, Abnormality of the parathyroid gland, Finger syndactyly, Atresia of... ORPHA:3429
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Fetal Minoxidil Syndrome
Low-set, posteriorly rotated ears, Generalized hirsutism, Cryptorchidism, Clinodactyly of the 5th... ORPHA:1918
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... ORPHA:753
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Short stature, Hypoplasia of the uterus, Azoospermia, Bicornuate u... OMIM:601076
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Short distal phalanx of finger, Long eyelashes, Hypoplastic fifth toenail, Low-s... OMIM:615866
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Camptodactyly of finger, Cryptorchidism, Abnormality of the nail,... ORPHA:3080
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Microtia OMIM:612138
Aminopterin Syndrome Sine Aminopterin
Rudimentary postaxial polydactyly of hands, Low-set ears, Cryptorchidism, Short thumb, Posteriorl... OMIM:600325
Femoral-Facial Syndrome
Maternal diabetes, Low-set ears, Cryptorchidism, Short stature, Preaxial foot polydactyly, Radiou... ORPHA:1988
Smith-Lemli-Opitz Syndrome
Biparietal narrowing, Ambiguous genitalia, Ureteropelvic junction obstruction, Rhizomelia, Cleft ... ORPHA:818
6Q16 Microdeletion Syndrome
Low-set ears, Abnormal ear morphology, Thick eyebrow, Tapered finger, Microtia, Obesity ORPHA:171829
Filippi Syndrome
2-4 toe syndactyly, Cryptorchidism, Hypertrichosis, Ambiguous genitalia, Frontal hirsutism, Intra... OMIM:272440
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Hypogonadotropic hypogonadism, Failure to thrive, Growth delay OMIM:619310
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Hand polydactyly, Cryptorchidism, Abnormal antitragus morpholo... ORPHA:2377
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Hypopituitarism, Precocious puberty, Increased circulating prolactin concentratio... ORPHA:91354
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Alopecia, Azoospermia, Impotence, Hypogonadotropic hypogon... OMIM:235200
Ohdo Syndrome
Cryptorchidism, Short stature, Hearing impairment, Sparse eyebrow, Small scrotum, Stenosis of the... OMIM:249620
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Low-set, posteriorly rotated ears, Cryptorchidism, ... ORPHA:1387
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Decreased testicular size, Micropenis, Hypogona... ORPHA:3464
Microcephaly 16, Primary, Autosomal Recessive
Decreased body weight, Adducted thumb, Short stature, Cryptorchidism OMIM:616681
Hypertelorism-Microtia-Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Severe short stature, Micr... ORPHA:2213
Hemochromatosis, Type 3
Amenorrhea, Impotence, Hypogonadotropic hypogonadism OMIM:604250
Saethre-Chotzen Syndrome
Hearing impairment, Broad thumb, Triphalangeal thumb, Bilateral single transverse palmar creases,... ORPHA:794
Meier-Gorlin Syndrome 4
Low-set ears, Cryptorchidism, Breast hypoplasia, Intrauterine growth retardation, Short stature, ... OMIM:613804
Meier-Gorlin Syndrome 5
Low-set ears, Cryptorchidism, Micropenis, Intrauterine growth retardation, Short stature, Birth l... OMIM:613805
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Abnormality of endocrine pancreas physiology, Impotence, Hypogonadism ORPHA:79230
Joubert Syndrome With Hepatic Defect
Macrocephaly, Biparietal narrowing, Gait disturbance, Ataxia, Renal insufficiency, Nephropathy, M... ORPHA:1454
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Microphallus, Testicular dysgenesis, A... OMIM:615542
Microtia With Meatal Atresia And Conductive Deafness
Aplasia/Hypoplasia of the middle ear, Anotia, Conductive hearing impairment, Microtia OMIM:251800
Ovarian Dysgenesis 3
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Fem... OMIM:614324
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Atresia of the external auditory canal, Sparse eyelashes, Unilater... OMIM:300946
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Decreased testicular size, Micropenis, Protruding ear, Diabetes ... OMIM:241080
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Cryptorchidism, Decreased testicular size, Hypogonadism, Truncal obesity, S... ORPHA:127
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Abnormal finger morphology, Coarse hair, Sparse or absent eyelashes, Sparse... ORPHA:113
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Testicular atrophy, Decreased serum testosterone c... ORPHA:465508
Pierpont Syndrome
Cryptorchidism, Brachycephaly, Micropenis, Failure to thrive, Midface retrusion, Decreased body w... OMIM:602342
19P13.3 Microduplication Syndrome
Low-set ears, Posteriorly rotated ears, Intrauterine growth retardation, Long fingers, Growth del... ORPHA:447980
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Decreased testicular size, Cryptorchidism, Shawl scrotum, Micropenis, Brachycephal... OMIM:615433
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Cryptorchidism, Brachycephaly, Midface retrusion, Hypoplastic female external geni... OMIM:618577
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Intrauterine growth retardation, Hearing impairment, Abnormality of the outer ear... ORPHA:2728
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypospadias OMIM:201910
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus, Highly arched ... OMIM:618419
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Diabetes mellitus, Abs... OMIM:610628
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Cryptorchidism, Decreased testicular size, Patchy alopecia, Protruding e... ORPHA:85279
Meier-Gorlin Syndrome 2
Camptodactyly, Breast hypoplasia, Abnormal pinna morphology, Clitoral hypertrophy, Intrauterine g... OMIM:613800
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Brachycephaly, Failure to thrive OMIM:309541
Congenital Disorder Of Glycosylation, Type Iig
Single transverse palmar crease, Camptodactyly, Cryptorchidism, Ulnar deviation of finger, Conduc... OMIM:611209
Classic Galactosemia
Oligomenorrhea, Delayed puberty, Premature ovarian insufficiency, Decreased fertility in females,... ORPHA:79239
Buratti-Harel Syndrome
Low-set ears, Cryptorchidism, Posteriorly rotated ears, Small nail, Broad thumb, Sparse medial ey... OMIM:619314
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Eunuchoid habitus, Micropenis, Decreased circulating follicle... OMIM:308750
Amed Syndrome, Digenic
Adrenal hypoplasia, Long thumb, Short stature, Hypoplasia of the uterus, Failure to thrive OMIM:619151
Meier-Gorlin Syndrome 3
Low-set ears, Cryptorchidism, Micropenis, Breast hypoplasia, Sparse axillary hair, Clitoral hyper... OMIM:613803
Arthrogryposis, Distal, Type 1C
Camptodactyly of toe, Camptodactyly of finger, Cryptorchidism, Short stature, Metacarpophalangeal... OMIM:619110
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Failure to thrive, Female infertility, Sensorineu... OMIM:619518
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Decreased circulating ACTH level, Macronodular adrenal hype... OMIM:615954
Estrogen Resistance Syndrome
Primary amenorrhea, Breast hypoplasia, Abnormality of the pubic hair, Hypoplasia of the uterus, H... ORPHA:785
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Zechi-Ceide Syndrome
Short distal phalanx of finger, Low-set ears, Conductive hearing impairment, Thick hair, Abnormal... ORPHA:217017
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Elevated circ... ORPHA:91347
Hemifacial Atrophy, Progressive
Microtia, Patchy alopecia, Poliosis OMIM:141300
Aarskog-Scott Syndrome
Delayed puberty, Elevated circulating follicle stimulating hormone level, Short 5th finger, Bilat... OMIM:305400
Hand-Foot-Genital Syndrome
Hypoplastic fifth toenail, Short distal phalanx of finger, Short thumb, Proximal placement of thu... ORPHA:2438
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Eunuchoid habitus, Micropenis, Dec... OMIM:308700
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse body hair, Nail dysplasia, Protruding ear, Abnormal toenail morphology, Supernumerary nipp... ORPHA:1809
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Finger syndactyly, Intrauterine growth retardation, Short stature,... ORPHA:2145
Coffin-Siris Syndrome 8
Long eyelashes, Cryptorchidism, Thick eyebrow, Failure to thrive, Hypertrichosis, Sparse scalp hair OMIM:618362
Bdv Syndrome
Delayed puberty, Cryptorchidism, Decreased serum testosterone concentration, Reduced TSH response... OMIM:619326
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Biparietal narrowing ORPHA:228396
Tetralogy Of Fallot
Brachydactyly, Cryptorchidism, Intrauterine growth retardation, Clinodactyly of the 5th finger ORPHA:3303
Nabais Sa-De Vries Syndrome, Type 2
Low-set ears, Protruding ear, Failure to thrive in infancy, Posteriorly rotated ears, Tapered fin... OMIM:618829
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Conductive hearing impairment, Abnormal antitragus morphology, Uncombable hair, A... ORPHA:3082
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Abnormal social behavior ORPHA:436151
Megalencephaly
Macrocephaly, Truncal obesity, Prominent occiput, Dolichocephaly, Long penis, Frontal bossing, Ma... ORPHA:2477
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Cryptorchidism, Low-set ears, Micropenis, Intrauterine growth ... ORPHA:2872
Fg Syndrome Type 1
Single transverse palmar crease, Cryptorchidism, Slender build, Clinodactyly of the 2nd finger, B... ORPHA:93932
Sweeney-Cox Syndrome
Uplifted earlobe, Short distal phalanx of finger, Low-set ears, Bilateral talipes equinovarus, Wi... OMIM:617746
Warburg Micro Syndrome 1
Low-set ears, Cryptorchidism, Facial hypertrichosis, External genital hypoplasia, Overlapping toe... OMIM:600118
Distal 22Q11.2 Microduplication Syndrome
Macroglossia, Macrocephaly, Biparietal narrowing, Cryptorchidism, Anal atresia, High palate, Unil... ORPHA:261337
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Brachycephaly, Brachyturricephaly, Abnormal shape of the occiput, Midface retrusi... OMIM:218350
Acrocephalopolydactyly
Microtia ORPHA:221054
Potocki-Shaffer Syndrome
Brachycephaly, Micropenis, Parietal foramina ORPHA:52022
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypogonadism, Severe postnatal growth retardation, Bilateral sensorine... ORPHA:73272
20P12.3 Microdeletion Syndrome
Thickened helices, Short stature, Microtia ORPHA:261295
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Midface retrusion OMIM:612247
Peho Syndrome
Biparietal narrowing, Microcephaly, Midface retrusion ORPHA:2836
Weaver Syndrome
Camptodactyly of finger, Cryptorchidism, Low-set, posteriorly rotated ears, Hypoplastic toenails,... ORPHA:3447
Distal Deletion 10P
Low-set, posteriorly rotated ears, Cryptorchidism, Polycystic ovaries, Abnormality of the elbow, ... ORPHA:1580
Frasier Syndrome
Primary amenorrhea, Gonadoblastoma, Ambiguous genitalia, male, Gonadal dysgenesis with female app... ORPHA:347
46,Xy Sex Reversal 4
Agonadism, Hypoplasia of the uterus, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Re... OMIM:154230
Temple Syndrome
Small for gestational age, Cryptorchidism, Bifid uvula, Obesity, Short stature, Relative macrocep... ORPHA:254516
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Failure to thrive, Talipes equinovarus ORPHA:250994
Ring Chromosome 21 Syndrome
Gait disturbance, Diabetes insipidus, Short stature, Infertility, Azoospermia, Microcephaly, Amen... ORPHA:1445
48,Xxyy Syndrome
Decreased testicular size, Cryptorchidism, Flat occiput, Hypergonadotropic hypogonadism, Hypoplas... ORPHA:10
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Ohdo Syndrome, X-Linked
Low-set ears, Cryptorchidism, Shawl scrotum, Micropenis, Short thumb, Overlapping toe, Ulnar devi... OMIM:300895
Intellectual Developmental Disorder, Autosomal Dominant 1
Low-set ears, Long eyelashes, Impaired social interactions, Micropenis, Protruding ear, Inappropr... OMIM:156200
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Cryptorchidism, Hypogonadism, Flexion contracture of toe, Obesity, Short... ORPHA:3409
Pierpont Syndrome
Small for gestational age, Cryptorchidism, Brachycephaly ORPHA:487825
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Protruding ear, Synophrys, Cachexia, Short sta... ORPHA:2471
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Aplasia of the uterus, Primary amenorrh... OMIM:273250
46,Xy Sex Reversal 1
Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Gonadoblastoma, Elevated cir... OMIM:400044
C Syndrome
Biparietal narrowing, High palate, Cryptorchidism, Horseshoe kidney, Trigonocephaly, Failure to t... ORPHA:1308
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Delayed puberty, Decreased testicular size, Cryptorchi... ORPHA:293967
Cerebellar Ataxia-Hypogonadism Syndrome
Decreased fertility, Brachycephaly, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:1173
Post-Traumatic Pituitary Deficiency
Delayed puberty, Decreased testicular size, Abnormality of secondary sexual hair, Decreased respo... ORPHA:95619
Chromosome 16Q22 Deletion Syndrome
Single transverse palmar crease, Small for gestational age, Cryptorchidism, Low-set ears, Posteri... OMIM:614541
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Increased circu... ORPHA:3453
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:404
Endocardial Fibroelastosis
Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal helix morphology, Hypoplasia of penis... ORPHA:2022
Aica-Ribosiduria
Clitoral hypertrophy, Fused labia minora, Brachycephaly ORPHA:250977
Acute Transverse Myelitis
Abnormal libido, Priapism ORPHA:139417
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Increased circulating ACTH level, Female external genitalia in individual wi... ORPHA:90790
11Q22.2Q22.3 Microdeletion Syndrome
Low-set ears, Posteriorly rotated ears, Thick eyebrow, Abnormal social behavior, Clinodactyly of ... ORPHA:444002
Craniosynostosis 6
Parietal foramina, Bicoronal synostosis, Plagiocephaly, Craniosynostosis, Brachycephaly, Right un... OMIM:616602
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Limited elbow extension, Short distal phalanx of finger, Microtia, Precocious puberty, Truncal ob... OMIM:210720
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Decreased circulating follicle stimulating hormone concentration, Decre... OMIM:614842
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... ORPHA:983
Silver-Russell Syndrome 3
Small for gestational age, Penoscrotal hypospadias, Ambiguous genitalia, Relative macrocephaly, S... OMIM:616489
Schaaf-Yang Syndrome
Camptodactyly, Cryptorchidism, Low-set ears, Micropenis, Hypogonadism, Narrow palm, Obesity, Fail... OMIM:615547
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus, Finger syndactyly, Intrauterine growth retardation, Radioulnar synosto... ORPHA:1788
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Low-set, posteriorly rotated ears, Conductive hearing impairment, Supern... ORPHA:246
Pseudodiastrophic Dysplasia
Frontal bossing, Brachycephaly, Failure to thrive, Midface retrusion OMIM:264180
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Camptodactyly, Long eyelashes, Cryptorchidism, Shawl scrotum, Absent axillary hair, Breast hypopl... OMIM:601353
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Cryptorchidism, Micropenis, Primary amenorrhea, Small pituitary gland, Sensorine... OMIM:612702
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Weiss-Kruszka Syndrome
Low-set ears, Protruding ear, Proximal placement of thumb, Hearing impairment, Hypoplastic finger... OMIM:618619
Combined Oxidative Phosphorylation Deficiency 47
Low-set ears, Cryptorchidism, Cone-shaped epiphyses of the distal phalanges of the hand, Posterio... OMIM:618958
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Craniosynostosis, Macrocephaly, Adrenal hypoplasia, Cryptorchidism, Micropenis, Intrauterine grow... OMIM:614732
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Frontal bossing, Bilateral cryptorchidism, Brachycephaly ORPHA:314575
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Brachycephaly OMIM:264470
Schilbach-Rott Syndrome
Posteriorly rotated ears, Short stature, 3-4 finger cutaneous syndactyly, Clinodactyly, Microtia,... OMIM:164220
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Cryptorchidism, Supernumerary nipple, Short stature, 3-4 finger cutaneous syndactyl... OMIM:612530
Meier-Gorlin Syndrome 1
Hearing impairment, Cutaneous finger syndactyly, Joint contracture of the hand, Camptodactyly, Sm... OMIM:224690
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microtia, Camptodactyly of finger, Hypoplasia of penis, Symphalangism affecting the phalanges of ... ORPHA:2547
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Elevated circulating follicle... OMIM:612965
Microtia-Anotia
Anotia, Microtia OMIM:600674
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Increased circulating cortisol level, Truncal obesity, Primary hypercortisol... OMIM:219080
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Widow's peak, Intrauterine growth retardation, Short stature, Short palm, Single ... OMIM:101805
Linear Nevus Sebaceus Syndrome
Biparietal narrowing, Plagiocephaly, Adenoma sebaceum, Prominent occiput, Growth delay, Frontal b... ORPHA:2612
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Primary gonadal insufficiency, Short stature, Azoospermia, Gonadal tissue in... ORPHA:261519
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Cebalid Syndrome
Plagiocephaly, Brachycephaly, Platystencephaly, Midface retrusion, Dolichocephaly, Turricephaly OMIM:618774
Heart-Hand Syndrome Type 2
Hand polydactyly, Abnormality of the humerus, Cryptorchidism, Aplasia/Hypoplasia of the radius, A... ORPHA:1350
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Primary hypercortis... OMIM:615830
Even-Plus Syndrome
Severe short stature, Synophrys, Highly arched eyebrow, Sparse hair, Microtia OMIM:616854
Hemifacial Microsomia With Radial Defects
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:141400
Androgen Insensitivity Syndrome
Primary amenorrhea, Sparse axillary hair, Elevated circulating follicle stimulating hormone level... OMIM:300068
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Microtia, Finger joint contracture, Hypergonadotropic hypogonadism OMIM:212112
Distal Triplication 15Q
Camptodactyly, Low-set ears, Abnormal helix morphology, Intrauterine growth retardation, Abnormal... ORPHA:314588
Nicolaides-Baraitser Syndrome
Long eyelashes, Curly eyelashes, Severe short stature, Abnormal hair pattern, Cryptorchidism, Abn... ORPHA:3051
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Microtia, third degree, Hearing impairment, Clitoral hypoplasia, Anotia,... ORPHA:2554
Oculoauriculovertebral Spectrum With Radial Defects
Maternal diabetes, Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnorma... ORPHA:2549
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Ambiguous genitalia, Abnormal pinna morphology, Mesomelic/rhizomelic lim... ORPHA:2839
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Micropenis, Abnormal pinna morphology, Widow's peak, Thick eyebrow, Broad finger,... OMIM:614684
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Azoospermia OMIM:614897
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Decrease... OMIM:202010
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal hair quantity, Goiter, Neoplasm of the thyroid gland, Precocious puberty, Polycystic ova... ORPHA:457059
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Limited elbow extension, Low-set ears, Long eyelashes, Cryptorchidism, Synophrys, Intrauterine gr... ORPHA:502434
Poems Syndrome
Hypogonadism, Increased circulating prolactin concentration, Diabetes mellitus, Clubbing of finge... ORPHA:2905
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Decreased body weight, Brachycephaly, Precocious puberty OMIM:300958
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Brachycephaly, Failure to thrive OMIM:618603
Omodysplasia 2
Uterus didelphys, Short humerus, Cryptorchidism, Micropenis, Dyspareunia, Posteriorly rotated ear... OMIM:164745
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Hypogonadism, Precocious puberty, Synophrys, B... ORPHA:3306
Li-Campeau Syndrome
Single transverse palmar crease, Low-set ears, Cryptorchidism, Micropenis, Short stature, Thick e... OMIM:619189
Parenti-Mignot Neurodevelopmental Syndrome
Posteriorly rotated ears, Low-set ears, Cupped ear, Microtia OMIM:619873
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Abnormal pi... OMIM:300354
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Cryptorchidism, Low posterior hairline, Abnormality of the elb... ORPHA:2701
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Low-set ears, Obesity, Short stature, Hearing impairment, Microtia OMIM:619056
Pituitary Stalk Interruption Syndrome
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Primary amenorrhea, Diabetes insipidus, Shor... ORPHA:95496
Catifa Syndrome
Microtia OMIM:618761
20Q11.2 Microduplication Syndrome
Limited elbow extension, Low-set, posteriorly rotated ears, Cryptorchidism, Micropenis, Thickened... ORPHA:363659
Temple Syndrome
Small for gestational age, Cryptorchidism, Overweight, Decreased testicular size, Precocious pube... OMIM:616222
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal morphology of female internal genital... ORPHA:1926
Van Maldergem Syndrome 2
Microtia, Cryptorchidism, Conductive hearing impairment, Micropenis, Ulnar deviation of the hand,... OMIM:615546
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Brachycephaly, Failure to thrive ORPHA:70472
Abruzzo-Erickson Syndrome
Cryptorchidism, Ulnar deviation of finger, Conductive hearing impairment, Short stature, Toe synd... ORPHA:921
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Syndactyly, Hearing impairment, Growth delay, Microtia OMIM:616006
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Delayed puberty, Cryptorchidism, Micropenis, Primary amenorrhea, Ectrodactyly, Short stature, Sen... OMIM:147950
Fanconi Anemia, Complementation Group F
2-3 finger syndactyly, Cryptorchidism, Conductive hearing impairment, Short thumb, Microphallus, ... OMIM:603467
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Conductive hearing impairment, Protruding ear, Cupped ear, Stenosis of the external... OMIM:616367
Luscan-Lumish Syndrome
Shyness, Polycystic ovaries, Advanced ossification of carpal bones, Short stature, Irregular mens... OMIM:616831
Bartsocas-Papas Syndrome 1
Oligodactyly, Anonychia, Short thumb, Ambiguous genitalia, Absent eyelashes, Bilateral cryptorchi... OMIM:263650
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Cryptorchidism, Low-set ears, Hypogonadism, Abnormal pinna morphology, A... ORPHA:178303
Congenital Myopathy 13
Cryptorchidism, Brachycephaly, Midface retrusion OMIM:255995
Mast Cell Sarcoma