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Gene: Hoxa10 MGI:96171

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Gene Summary

Name:
homeobox A10
Synonyms:
Hoxa-10,  Hox-1.8

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Hoxa10tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased bone mineral content Hoxa10tm1.1(KOMP)Vlcg HOM   Early adult 7.10×10-06
abnormal heart morphology Hoxa10tm1.1(KOMP)Vlcg HOM Early adult 0.00

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Hoxa10 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hoxa10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... ORPHA:98798
Androgen Insensitivity, Partial
Abnormal rib cage morphology, Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoo... OMIM:312300
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Ethanolaminosis
Cardiomegaly OMIM:227150
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Caudal Appendage-Deafness Syndrome
Caudal appendage, Cryptorchidism, Abnormal digit morphology ORPHA:1123
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Oeis Complex
Absent scrotum, Cryptorchidism, Micropenis, Anal atresia, Rectovaginal fistula, Vesicovaginal fis... OMIM:258040
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Vertebral segmentation defect, Short neck, Abnorma... ORPHA:2578
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Deleted in azoospermia
Azoospermia OMIM:400003
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Micrognathia, Cryptorchidism, Short neck, Camptodactyly, High palate, Rocker bo... OMIM:618393
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Three M Syndrome 1
Short 5th finger, Joint dislocation, Slender long bone, Decreased testicular size, Hypoplastic pe... OMIM:273750
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Hypog... ORPHA:2234
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Prieto Syndrome
Radial deviation of finger, Clinodactyly, 11 pairs of ribs, Cryptorchidism, Inguinal hernia, Pate... OMIM:309610
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Camptodactyly of finger, Azoospermia, Cubitus valgus, Short neck, ... ORPHA:261519
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Abnormal sacrum morphology, Abnormal morphology of female internal genitalia, Verte... ORPHA:1797
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... ORPHA:753
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Clinodactyly of the 5th finger, High ... ORPHA:376
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Me... OMIM:613330
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Micromelia, Horizonta... OMIM:617895
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Hypoplasia of penis, Micropenis, Cryptorchidism ORPHA:85274
Becker Nevus Syndrome
Pectus carinatum, Micromelia, Supernumerary nipple, Abnormal tibia morphology, Abnormal scrotum m... ORPHA:64755
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Te... OMIM:615542
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Azoospermia, Micrognathia, Sprengel anomaly, Abnormal rib mo... OMIM:601076
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Azoospermia, Abnormal thorax morphology, Amenor... ORPHA:1445
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Male hypogonadism, Hypergonadotropic hypogonadism, Superior ri... OMIM:307500
49,Xyyyy Syndrome
Short 5th finger, Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Decreas... ORPHA:99330
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal ... ORPHA:456328
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Short 4th metacarpal, Short neck, Cubitus valgus, Abnormality o... ORPHA:2183
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Microglossia, Micromelia, Anterior hypopituitarism, M... OMIM:241800
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
48,Xxyy Syndrome
Elbow dislocation, Abnormal shoulder morphology, Decreased testicular size, Azoospermia, Infertil... ORPHA:10
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Narrow chest, Anisospondyly, Micromelia, Broad long bones, Clubbing of fingers,... ORPHA:1865
Young Syndrome
Azoospermia OMIM:279000
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Bowen-Conradi Syndrome
Camptodactyly of finger, Micrognathia, Cryptorchidism, Clinodactyly of the 5th finger, Rocker bot... ORPHA:1270
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Polycystic kidney dysplasia, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma ... OMIM:613091
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Supernumerary nipple, Broad ribs, Congenital hypothyroidism, Cryptor... ORPHA:2519
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Micrognathia, ... OMIM:616897
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, ... OMIM:271520
Spermatogenic Failure 17
Male infertility OMIM:617214
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Mi... OMIM:614524
Hao-Fountain Syndrome
Premature adrenarche, Delayed cranial suture closure, Cryptorchidism, Hallux valgus, Micropenis, ... OMIM:616863
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly,... OMIM:618961
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Short foot, Cryptorchidism, Tapered finger OMIM:309585
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Anteriorly placed anus, Decreased serum testosterone concentration, Absent scrotum, ... ORPHA:495875
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Clitoral hypertrophy, Joint contracture of the hand, Elbow dislocation, Cu... OMIM:224690
Xq27.3Q28 Duplication Syndrome
Small hand, Hypogonadism, Decreased testicular size, Cryptorchidism, Short foot ORPHA:261483
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... OMIM:225500
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Micrognathia, Cryptorchidism, High palate, Ectopic anus, S... ORPHA:1703
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Scoliosis, Cryptorchidism, Preaxial hand polydactyly ORPHA:85287
Bent Bone Dysplasia Syndrome 2
Thin ribs, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... OMIM:620076
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Micr... ORPHA:3144
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Microphallus, Bifid scrotum, Micrognathia, Abnormal scrotum morph... ORPHA:397590
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Breast ... ORPHA:432
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Hypospadias, Short uvula, Narrow... OMIM:614091
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Advanced tarsal ossificat... OMIM:269250
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
48,Xxxy Syndrome
Small scrotum, Abnormal epiphysis morphology, Elbow dislocation, Hypogonadism, Decreased testicul... ORPHA:96263
3Q13 Microdeletion Syndrome
Narrow chest, Hypoplasia of penis, Cryptorchidism, Short neck ORPHA:1621
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Rhizomelia, Sandal gap, Short tibia, Butterfly vertebrae, Cryptorchidism, Short hu... OMIM:607143
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Kyphomelic Dysplasia
Narrow chest, Abnormal form of the vertebral bodies, Micromelia, Micrognathia, Undulate ribs, Mis... ORPHA:1801
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Radioulnar synostosis, Short neck, High palate, Dislocated radial... ORPHA:99329
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Unossified sacrum, Micromelia, Absent vertebral body mineralizati... ORPHA:93296
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bell-shaped thorax, Cryptorchidism, Anal atresia, Flat acetabular roof, Hamartoma of... OMIM:616300
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Aplasia/hypoplasia of... ORPHA:2839
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum, Scoliosis OMIM:618155
Craniofrontonasal Dysplasia
Scoliosis, Abnormal clavicle morphology, Finger syndactyly, Sandal gap, Camptodactyly of finger, ... ORPHA:1520
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho... OMIM:228520
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar... OMIM:187601
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Shortening of all middle phalanges of the fingers, Short toe, Widely ... OMIM:301900
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Micrognathia, Short r... OMIM:215045
Arthrogryposis, Distal, Type 1C
Bifid uvula, Shoulder flexion contracture, Camptodactyly of finger, Elbow flexion contracture, Cr... OMIM:619110
Cree Impaired Intellectual Development Syndrome
Bifid scrotum, Cutaneous finger syndactyly, Cleft soft palate, Micrognathia, Cryptorchidism, Apla... OMIM:606851
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... OMIM:173800
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ... OMIM:615503
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Isolated Hemihyperplasia
Asymmetry of the thorax, Scoliosis, Cryptorchidism ORPHA:2128
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Bifid scrotum, Micrognathia, Cryptorchidism,... ORPHA:93328
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... ORPHA:457083
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Micrognathia, Cryptorch... OMIM:620073
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Abnor... OMIM:264600
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Micrognathia, Cryptorchidism, Radioulnar synostosis, Sprengel an... ORPHA:1988
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Am... OMIM:300219
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cryptorchidism, Aplasia/Hypopla... ORPHA:2911
Chromosome 3Q13.31 Deletion Syndrome
Decreased testicular size, Cryptorchidism, Shawl scrotum, Micropenis, High palate, Proximal place... OMIM:615433
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Finger clinodactyly, Inguinal hernia, Cryptorchidism, Supernumerary ribs, Patellar subluxation, C... ORPHA:2958
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydactyly, Renal cyst, Brachydactyly... OMIM:615982
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Micrognathia, Chordee, Abnormal intern... ORPHA:1772
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Cryptorchidism, Horizontal ribs, Postaxial ... OMIM:615633
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to gro... ORPHA:1263
Meier-Gorlin Syndrome 3
Small scrotum, Clitoral hypertrophy, Narrow chest, Microretrognathia, Slender long bone, Patellar... OMIM:613803
Aarskog-Scott Syndrome
Cervical spine hypermobility, Hypoplasia of the odontoid process, Elevated circulating luteinizin... OMIM:305400
Seckel Syndrome 5
Clitoral hypertrophy, 11 pairs of ribs, Micrognathia, Cryptorchidism, Clinodactyly of the 5th fin... OMIM:613823
49,Xxxxy Syndrome
Small scrotum, Abnormal epiphysis morphology, Elbow dislocation, Hypogonadism, Decreased testicul... ORPHA:96264
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Polycystic kidney dysplasia, Polysyndactyly of hallux, Pectus c... OMIM:263520
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Micromelia, Short femoral nec... OMIM:602557
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... OMIM:277590
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Abnormal clavicle morphol... ORPHA:93267
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor... OMIM:613320
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Broad thumb, Microretrognathia, Camptodactyly of finger, Cryptorc... ORPHA:3080
Achondrogenesis, Type Ib
Hypoplastic ilia, Narrow chest, Micromelia, Absent or minimally ossified vertebral bodies, Inguin... OMIM:600972
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla... OMIM:187600
Aarskog-Scott Syndrome
Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Inguinal... ORPHA:915
Ruvalcaba Syndrome
Small hand, Narrow chest, Kyphosis, Micromelia, Limited elbow extension, Cryptorchidism, Inguinal... OMIM:180870
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog... ORPHA:1842
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Rectoureth... OMIM:603116
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Prune Belly Syndrome
Congenital hip dislocation, Multicystic kidney dysplasia, Volvulus, Abnormality of the uterus, In... ORPHA:2970
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Cryptorchidism, Bowing of the lo... ORPHA:628
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Dysosteosclerosis
Absent paranasal sinuses, Micrognathia, Increased intervertebral space, Absent frontal sinuses, D... OMIM:224300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Short toe, Decreased testicular size, Hyperinsulinemia, Type II diabetes me... ORPHA:3085
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, H... ORPHA:2256
Scarf Syndrome
Pectus carinatum, Abnormal form of the vertebral bodies, Bifid scrotum, Cryptorchidism, Inguinal ... ORPHA:3134
Image Syndrome
Micromelia, Hypogonadism, Cryptorchidism, Adrenal hypoplasia, Metaphyseal dysplasia, Hypospadias ORPHA:85173
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Tetraamelia... ORPHA:3301
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Congenital knee dislocation, Cryptorchidism, Bilateral facial palsy, Flexion contracture of finge... ORPHA:319332
Wilson-Turner Syndrome
Small hand, Micrognathia, Cryptorchidism, Hypogonadotropic hypogonadism, Short foot, Tapered finger ORPHA:3459
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... ORPHA:66637
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Autosomal Dominant Popliteal Pterygium Syndrome
Small scrotum, Toe syndactyly, Popliteal pterygium, Finger syndactyly, Bifid scrotum, Micrognathi... ORPHA:1300
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal morpholog... ORPHA:1834
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short neck, Short palm, Short foot, Short toe, Hamartoma of tongue, Median ... OMIM:269860
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Supernumerary nipple, Twelfth rib hypoplasia, Micrognathia, Bell-shaped thorax, Abnormal optic di... ORPHA:397715
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism ORPHA:3055
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Cryptorchidism, Missing... ORPHA:3027
Isolated Glycerol Kinase Deficiency
Hyperlordosis, Adrenocortical hypoplasia, Scoliosis, Cryptorchidism ORPHA:408
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Micrognathia, Cryptorchidism, Short neck, Rocker bottom foot OMIM:618766
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:275400
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor... ORPHA:2021
Vacterl/Vater Association
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Bifid scrotum,... ORPHA:887
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Abnormal optic disc ... OMIM:617516
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Thoracic hypoplasia, Preaxial polydactyly, Intestinal malrotation, ... OMIM:617866
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Micrognathia, Cryptorchidism, Supernumerary ribs, Hypogonadotropic hyp... ORPHA:251066
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Clinodactyly, Bell-shaped thorax, Cryptorchidism, Short neck, High palate, Scoliosis, Kyphosis ORPHA:178148
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Micrognathia, Cryptorchidism ORPHA:1918
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis ORPHA:88643
Scarf Syndrome
Lambdoidal craniosynostosis, Pectus carinatum, Coronal craniosynostosis, Abnormal form of the ver... OMIM:312830
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Bell-shaped thorax, Micrognathia,... ORPHA:56304
Intellectual Developmental Disorder, Autosomal Recessive 44
Bifid uvula, Shawl scrotum OMIM:615942
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Micrognathia, Absent gallbladder, Short neck, Anal atresia, Hamartoma of tongue, Sep... OMIM:617925
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, M... ORPHA:3082
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology... OMIM:109400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, 11 pairs of ribs, Cryptorchidism, Tracheoesophageal fistula, Esoph... ORPHA:77298
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Finger syndactyly, Short thorax, Camptodactyly of finger, Abnormal morphology of femal... ORPHA:2311
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotropic hypo... OMIM:610628
Microcephaly 16, Primary, Autosomal Recessive
Micrognathia, Knee flexion contracture, Adducted thumb, Cryptorchidism OMIM:616681
Non-Distal Duplication 10Q
Micrognathia, Cryptorchidism, Pectus excavatum, High palate, Scoliosis ORPHA:1695
Spinal Muscular Atrophy, X-Linked 2
Scoliosis, Micrognathia, Decreased compound muscle action potential amplitude, Cryptorchidism, In... OMIM:301830
Omodysplasia 2
Limited elbow flexion, Micrognathia, Cryptorchidism, Dislocated radial head, Hypospadias, Hypopla... OMIM:164745
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Ambiguous genitalia, Abnormal rib morphology, Hy... ORPHA:276422
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Micrognathia, Cryptorchidi... OMIM:108720
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi... ORPHA:2347
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Bilateral cryptorchidism, Missing ribs, Short neck, Tracheoesophageal fistu... OMIM:619859
Hyperparathyroidism, Transient Neonatal
Thin ribs, Hyperparathyroidism, Fractured rib, Narrow chest, Metaphyseal spurs, Femoral bowing, U... OMIM:618188
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Narrow chest, Rhizomelia, Thoracic hypoplasia, Reduced sperm motili... OMIM:602271
Cataract-Intellectual Disability-Hypogonadism Syndrome
Ulnar deviation of finger, Furrowed tongue, Abnormal distal phalanx morphology of finger, Microgn... ORPHA:1387
Microphthalmia, Syndromic 3
Optic nerve aplasia, Butterfly vertebrae, Cryptorchidism, Missing ribs, Supernumerary ribs, Rib f... OMIM:206900
Ulbright-Hodes Syndrome
Thin ribs, Clitoral hypertrophy, Fibular aplasia, Enlarged labia minora, Micrognathia, Humeroradi... ORPHA:3404
Diphallia
Penoscrotal transposition, Absent thumb, Bifid scrotum, Duplicated colon, Ectopic scrotum, Butter... ORPHA:227
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Brachydactyly, Cryptorchidism ORPHA:3303
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Endocardial Fibroelastosis
Sandal gap, Micrognathia, Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
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
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
Seckel Syndrome 1
Ivory epiphyses, Clitoral hypertrophy, Sandal gap, Hypoplasia of proximal radius, Elbow flexion c... OMIM:210600
1Q21.1 Microduplication Syndrome
Hypospadias, Hip dislocation, Cryptorchidism, Hip dysplasia ORPHA:250994
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Micromelia, Cryptorchidism, Ambiguous genitalia, Abnormal rib morphology, Hypoplasia of penis ORPHA:2772
Trisomy 4P
Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Cryptorchidism, Short neck,... ORPHA:1738
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Distal Duplication 15Q
Camptodactyly of finger, Abnormal female external genitalia morphology, Micrognathia, Cryptorchid... ORPHA:1707
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... ORPHA:3363
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Congenital Arthrogryposis With Anterior Horn Cell Disease
Micrognathia, Facial diplegia, Cryptorchidism, Short neck, Hip dysplasia, High palate, Rocker bot... OMIM:611890
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Brachydacty... OMIM:615630
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism, Tapered finger OMIM:618512
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis, Small hand, Male hypogonadism, Absence of secondary sex characteristics... ORPHA:163971
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Micrognathia, Missing ribs, Adrenal hypopl... OMIM:220210
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163976
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Absent scrotum OMIM:618479
Autosomal Recessive Amelia
Small scrotum, Micrognathia, Acromelia of the lower limbs, Cryptorchidism, Amelia, Hypoplasia of ... ORPHA:1027
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy, Bifid scrotum ORPHA:1547
3C Syndrome
High, narrow palate, Optic atrophy, Finger syndactyly, Intestinal malrotation, Abnormal hip bone ... ORPHA:7
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Androgen insufficiency, Cryptorchidism, Abnormality of the endocrine system, Displ... ORPHA:95706
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof OMIM:613676
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Achondrogenesis, Type Ii
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abs... OMIM:200610
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Micromelia, Sho... OMIM:241500
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Clinodactyly of the 5th fi... ORPHA:502430
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:619310
Difference Of Sex Development-Intellectual Disability Syndrome
Small scrotum, Hypogonadism, Genu valgum, Short neck, Short thorax, Spina bifida occulta, Hypopla... ORPHA:2983
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow chest, Joint contracture of the hand, Micromelia, Broad long bones, Micrognathia, Short ri... OMIM:224400
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Short thumb, Clinodactyly, Micrognathia, Cryptorchidism, Inguinal ... OMIM:600325
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Anteriorly placed anus, Abnormality o... ORPHA:2319
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Short thumb, Cryptorchidism ORPHA:2489
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Aplasia/Hypoplasia of the pubic bone, Hypoplastic labia majora, Short neck, Long c... OMIM:269150
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Lumbar kyphosis in infancy, Fe... OMIM:100800
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cryptorchidism, Decreased cervical spine mobility, Micropenis, ... ORPHA:370968
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
3M Syndrome
Thin ribs, Decreased fertility, Short neck, Hypoplastic ischia, Hypospadias, Abnormality of the e... ORPHA:2616
Penoscrotal Transposition
Penoscrotal transposition, Pectus carinatum, Micrognathia, Patellar aplasia, Shawl scrotum, Clino... ORPHA:2842
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Osteoglosphonic Dysplasia
Rhizomelia, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Micrognathia, Cr... ORPHA:2645
Ruvalcaba Syndrome
Pectus carinatum, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Narrow chest, Ky... ORPHA:3121
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Distal Duplication 18Q
Progressive intervertebral space narrowing, Deviation of finger, Camptodactyly of finger, Abnorma... ORPHA:1716
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordos... ORPHA:2522
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Micrognathia, Cryptorchidism, Anal atresia, Short foot, Preaxi... ORPHA:93271
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis, Finger joint hyper... OMIM:244200
Coffin-Siris Syndrome 8
Inguinal hernia, Scoliosis, Cryptorchidism OMIM:618362
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Elevated circulating luteinizing hormone level, Decreased response to growth hormone ... OMIM:300845
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Short rib... OMIM:616546
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae, Supernumerary nipple, Cryptorchidism, Micropenis, Pectus excavatum OMIM:263750
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Bifid scrotum, Genu valgum, Hypogonadotropic hypogonadism, Abnorm... ORPHA:1295
Mehmo Syndrome
External genital hypoplasia, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes mellitus, ... ORPHA:85282
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Cryptorchidism, Mi... ORPHA:1647
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Weaver Syndrome
Broad thumb, Sandal gap, Finger syndactyly, Camptodactyly of finger, Micrognathia, Cryptorchidism... ORPHA:3447
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pectus carinatum, Small hand, Clinodactyly, Cryptorchidism, Perianal abscess, Brachydactyly, Micr... OMIM:614684
Chromosome Xq27.3-Q28 Duplication Syndrome
Small hand, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, ... OMIM:300869
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Pectus carinatum, Dislocation of the femoral head, Cryptorchidism, De... OMIM:619797
Hand-Foot-Genital Syndrome
Short 5th finger, Hypospadias, Shortening of all middle phalanges of the fingers, Short 1st metac... OMIM:140000
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Hypogonadism, Decreased testicular size, Micrognathia, Limited elbow ... OMIM:300882
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormal joint morphology, Abnormality ... ORPHA:3130
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry... OMIM:609945
Distal Monosomy 7Q36
Optic atrophy, Micrognathia, Cryptorchidism, Short neck, Pectus excavatum, Clinodactyly of the 5t... ORPHA:1636
Acrofrontofacionasal Dysostosis 2
Broad thumb, Broad hallux, Bifid scrotum, Hand polydactyly, Shawl scrotum, High palate, Hypospadi... OMIM:239710
Campomelic Dysplasia
Small abnormally formed scapulae, Narrow chest, Kyphosis, 11 pairs of ribs, Femoral bowing, Micro... ORPHA:140
Developmental And Epileptic Encephalopathy 70
Scoliosis, Cryptorchidism OMIM:618298
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Micrognathia, Short nec... OMIM:271665
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Amelia, Omphalocele, Testicular atrophy, Clinodactyly of ... OMIM:601163
Mmep Syndrome
Triphalangeal thumb, Cryptorchidism, Split foot ORPHA:3434
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... OMIM:612447
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Noonan Syndrome 12
Anteriorly placed anus, Spinal canal stenosis, Decreased response to growth hormone stimulation t... OMIM:618624
Chromosome 15Q26-Qter Deletion Syndrome
Micrognathia, Cryptorchidism, Brachydactyly, Micropenis, Hypospadias, Short middle phalanx of finger OMIM:612626
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Inguinal hernia... OMIM:252600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Abnormal hip bone morphology, Hypogonadotropic hypogonadism, Tracheoesophageal ... ORPHA:3068
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal vertebral morphology, Anteriorly placed anus, Central diabetes insip... ORPHA:280195
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic limb shortening, ... ORPHA:163654
Acrodysostosis
Abnormal female external genitalia morphology, Cryptorchidism, Bowing of the long bones, Abnormal... ORPHA:950
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Bifid uvula, Camptodactyly of finger, Overlapping toe, Cutaneous fing... OMIM:114300
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Micrognathia, Cryptorchidism, Vertebral segmentation defect, Multip... ORPHA:1166
Microcephaly 27, Primary, Autosomal Dominant
Short finger, Cryptorchidism, Metatarsus adductus, Micropenis, Clinodactyly of the 5th finger, Hi... OMIM:619180
Cowden Syndrome 6
Varicocele, Colonic diverticula, Scoliosis, Thyroid adenoma, Goiter, Furrowed tongue, Micrognathi... OMIM:615109
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Cryptorchidism, Bifid sacrum... ORPHA:1756
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Currarino Syndrome
Aplasia/Hypoplasia of the sacrum, Bifid scrotum, Abnormal intestine morphology, Male pseudohermap... ORPHA:1552
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplastic iliac wing, Foot polydactyly, Bile duct proliferation, Cone-shaped epiphyses of the p... OMIM:208500
Distal Deletion 10P
Micrognathia, Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Short neck, Clinoda... ORPHA:1580
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Small hand, Sandal gap, Hypogonadism, Decreased testicular size, Cryptorchidism, Delayed puberty,... OMIM:300354
Leopard Syndrome 1
Pectus carinatum, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Kyphoscoliosis, Missing... OMIM:151100
Acrocallosal Syndrome
Abnormal clavicle morphology, Cryptorchidism, Inguinal hernia, Triphalangeal thumb, Postaxial han... ORPHA:36
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Wagr Syndrome
Micrognathia, Cryptorchidism, Displacement of the urethral meatus, Ambiguous genitalia, Scoliosis ORPHA:893
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Mirage Syndrome
Scoliosis, Microphallus, Radial club hand, Decreased testicular size, Overlapping fingers, Esopha... OMIM:617053
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Clinodactyly, Micrognathia, Cryptorchidism, Unilambdoid sy... OMIM:618577
Craniofrontonasal Syndrome
Toe syndactyly, Cryptorchidism, Short neck, Sprengel anomaly, Hemihypotrophy of lower limb, Hypos... OMIM:304110
Kbg Syndrome
Finger clinodactyly, Cervical ribs, Persistent open anterior fontanelle, Cryptorchidism, Short ne... ORPHA:2332
Congenital Myopathy 19
Micrognathia, Bell-shaped thorax, Cryptorchidism, High palate, Scoliosis OMIM:618578
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,... ORPHA:3429
Shprintzen-Goldberg Syndrome
High, narrow palate, Pectus carinatum, Narrow chest, Abnormal form of the vertebral bodies, Elbow... ORPHA:2462
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary nipple, Supernumerary ribs, Six lumbar vertebrae, Scapular winging, Pectus excavatum OMIM:619122
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, External genital hypop... ORPHA:65759
Rin2 Syndrome
Abnormal sternum morphology, Cryptorchidism, Brachydactyly, Premature ovarian insufficiency, High... ORPHA:217335
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Short palm, Bilateral cryptorchidism OMIM:300982
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism OMIM:601794
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Micrognathia, Abnormal scrotum morphology, Cryptorchidism, Inguinal hernia, Hyposp... ORPHA:2505
Temple Syndrome
Precocious puberty, Bifid uvula, Small hand, Decreased response to growth hormone stimulation tes... ORPHA:254516
Van Maldergem Syndrome 2
Narrow chest, Cutaneous syndactyly of toes, Clinodactyly, Bifid scrotum, Anteriorly placed anus, ... OMIM:615546
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Micrognathia, Radiou... OMIM:154400
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the panc... ORPHA:93111
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Warburg Micro Syndrome 1
Optic atrophy, External genital hypoplasia, Overlapping toe, Micrognathia, Cryptorchidism, Kyphos... OMIM:600118
Chromosome 16Q22 Deletion Syndrome
Narrow chest, Broad hallux, Micrognathia, Cryptorchidism, Wormian bones, Short neck, Hip dysplasi... OMIM:614541
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Toe syndactyly, Cryptorchidism, Cone-shaped epiph