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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
abnormal heart morphology Hoxa10tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased bone mineral content Hoxa10tm1.1(KOMP)Vlcg HOM   Early adult 7.10×10-06
enlarged heart 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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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
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Ethanolaminosis
Cardiomegaly OMIM:227150
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Caudal Appendage-Deafness Syndrome
Cryptorchidism, Abnormal digit morphology, Caudal appendage ORPHA:1123
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Oeis Complex
Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Hemivertebrae, Anteriorly pl... OMIM:258040
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Cryptorchidism, Kyphosis, High pa... OMIM:618393
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... ORPHA:1145
Three M Syndrome 1
Joint dislocation, Scapular winging, Hypospadias, Short neck, Hyperlordosis, Increased vertebral ... OMIM:273750
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... OMIM:156530
Prieto Syndrome
11 pairs of ribs, Inguinal hernia, Coxa valga, Cryptorchidism, Patellar subluxation, Patellar dis... OMIM:309610
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Cleft palate, High ... ORPHA:376
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
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
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gland, Hemivertebrae, ... ORPHA:2234
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagina, High palate, Micro... ORPHA:456328
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat... OMIM:613330
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Tapered finger, Cryptorchidism, Hypogonadism, Micropenis ORPHA:85274
Bowen-Conradi Syndrome
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Cryptorchidism, Clinodactyly of the 5t... ORPHA:1270
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Hao-Fountain Syndrome
Hallux valgus, Cryptorchidism, Clinodactyly of the 5th finger, Premature adrenarche, Micropenis, ... OMIM:616863
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Spina bifida o... ORPHA:1797
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Cryptorchidism, Decreased testicular size, Scoliosis ORPHA:85287
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Short foot, Cryptorchidism, Tapered finger OMIM:309585
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Congen... ORPHA:2519
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Paternal Uniparental Disomy Of Chromosome X
Short metacarpal, Short neck, Shield chest, Infertility, Cubitus valgus, Micropenis, Decreased te... ORPHA:261524
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, Bicornuate uteru... ORPHA:2578
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Spermatogenic Failure 17
Male infertility OMIM:617214
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Hypoplastic ischia, Short neck, Bowing of the legs, Cryptorchidism, Hypoplastic... ORPHA:1865
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidi... ORPHA:1703
Becker Nevus Syndrome
Supernumerary nipple, Micromelia, Pectus excavatum, Kyphosis, Hypoplastic labia minora, Abnormal ... ORPHA:64755
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle... OMIM:617895
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, Narrow chest, Short neck ORPHA:1621
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Ellis-Van Creveld Syndrome
Hypospadias, Epispadias, Cryptorchidism, Capitate-hamate fusion, Postaxial hand polydactyly, Pect... OMIM:225500
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Optic nerve hypoplasia, Short neck, Micrognathia, Cryptorchidism, Hypoplastic labia ... ORPHA:495875
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Lateral ... ORPHA:3144
Thoracomelic Dysplasia
Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus c... OMIM:224690
Pallister-Hall-Like Syndrome
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Cleft pala... OMIM:241800
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Autosomal Dominant Omodysplasia
Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Micrognathia, Elbow dislocation, C... ORPHA:93328
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic hypogonadism, Superior ri... OMIM:307500
Isolated Hemihyperplasia
Cryptorchidism, Asymmetry of the thorax, Scoliosis ORPHA:2128
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Kyphosis, Shor... OMIM:301900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Hypospadias, Fractured radius, Beaded ribs, Short neck, Decr... OMIM:616897
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small scrotum, Hypospadias, Short femur, Sandal gap, Rhizomelia, Cryptorchidism, H... OMIM:607143
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... OMIM:300219
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met... OMIM:618961
Chromosome 3Q13.31 Deletion Syndrome
Proximal placement of thumb, Cryptorchidism, Kyphosis, High palate, Shawl scrotum, Micropenis, De... OMIM:615433
Arthrogryposis, Distal, Type 1C
Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Short neck, Camptodactyly of f... OMIM:619110
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Small hand, Short foot, Hypogonadism, Decreased testicular size ORPHA:261483
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S... OMIM:616300
Cree Mental Retardation Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Cleft soft palate, Rocker bottom foot... OMIM:606851
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone... OMIM:615633
Femoral-Facial Syndrome
Maternal diabetes, Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of ... ORPHA:1988
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 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
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
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Inguinal hernia, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidi... ORPHA:397590
Seckel Syndrome 5
11 pairs of ribs, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, High palate, Short mid... OMIM:613823
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Inguinal hernia, Coxa valga, Cryptorchidism, Finger clinodactyly, Patellar subluxation, Supernume... ORPHA:2958
Fibrochondrogenesis 2
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... OMIM:614524
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Short neck, Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Broad hallux, C... OMIM:620073
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Absent external genitalia, Missin... OMIM:271520
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Intellectual Disability, Wolff Type
Microretrognathia, Inguinal hernia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnorma... ORPHA:3080
Boomerang Dysplasia
Omphalocele, Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius,... ORPHA:1263
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... ORPHA:2911
Meier-Gorlin Syndrome 3
Microretrognathia, Small scrotum, Hypospadias, Absent sternal ossification, Aplasia/Hypoplasia of... OMIM:613803
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Hypoplastic iliac wing, Ulnar bowing, Thin ribs, Femoral bowing, Coron... OMIM:620076
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia/Hypoplasia of the fibula,... ORPHA:2256
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Ruvalcaba Syndrome
Inguinal hernia, Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension,... OMIM:180870
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... OMIM:269250
Aarskog-Scott Syndrome
Short palm, Finger syndactyly, Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Short n... ORPHA:915
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Postaxial... OMIM:614091
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
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
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Scarf Syndrome
Bifid scrotum, Inguinal hernia, Craniosynostosis, Short neck, Cryptorchidism, Abnormal form of th... ORPHA:3134
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis OMIM:618155
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... OMIM:173800
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Multicystic kidney dysplasia, Missing ribs,... ORPHA:3301
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Micrognathia, Cryptorchidism, Sp... ORPHA:1300
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Scoliosis, Hyperlordosis ORPHA:408
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Cryptorchidism, Renal cyst, Hypogonadism, Polydactyly, B... OMIM:615982
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... OMIM:277590
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, Micrognathia ORPHA:1918
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Abnormal rib morphology, Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicor... OMIM:601076
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... ORPHA:628
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, Down-sloping ... ORPHA:1520
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Caudal Regression Syndrome
Maternal diabetes, Missing ribs, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Abnormal iliac... ORPHA:3027
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Micrognathia, Short neck, Cryptorchidism, Optic atrophy OMIM:618766
Spinal Muscular Atrophy, X-Linked 2
Inguinal hernia, Hypospadias, Facial palsy, Micrognathia, Cryptorchidism, Decreased compound musc... OMIM:301830
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Syndac... OMIM:305400
Stankiewicz-Isidor Syndrome
Sacral dimple, Hypospadias, Absent thumb, Micrognathia, Cryptorchidism, Short thumb, 2-3 toe synd... OMIM:617516
Isolated Splenogonadal Fusion
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Bilateral cryptorchidism, ... ORPHA:457083
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... ORPHA:1772
Endocardial Fibroelastosis
Hypoplasia of penis, Sandal gap, Micrognathia, Cryptorchidism, Anterior hypopituitarism ORPHA:2022
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Hemiverte... ORPHA:77298
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Metatarsus valgus, Cryptor... ORPHA:3082
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Microcephaly 16, Primary, Autosomal Recessive
Knee flexion contracture, Cryptorchidism, Micrognathia, Adducted thumb OMIM:616681
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal... OMIM:613320
Scarf Syndrome
Bifid scrotum, Barrel-shaped chest, Inguinal hernia, Short neck, Cryptorchidism, Abnormal form of... OMIM:312830
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydacty... OMIM:615503
Vacterl/Vater Association
Bifid scrotum, Omphalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Hypospa... ORPHA:887
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu varum, Fibula... OMIM:602557
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Cryptorchidism, Kyphosis, Bell-shaped thorax, High palate, Scoliosis, Clinodactyly ORPHA:178148
Achondrogenesis, Type Ib
Inguinal hernia, Micromelia, Hypoplastic ilia, Narrow chest, Short ribs, Absent or minimally ossi... OMIM:600972
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Spina bifida occulta, Hypospadias, Short palm OMIM:101805
Non-Distal Duplication 10Q
Micrognathia, Pectus excavatum, Cryptorchidism, High palate, Scoliosis ORPHA:1695
Phosphoribosylaminoimidazole Carboxylase Deficiency
Missing ribs, Bilateral cryptorchidism, Coronal hypospadias, Short neck, Esophageal atresia, Trac... OMIM:619859
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morp... ORPHA:1842
Dysosteosclerosis
Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypoplastic vertebral bodie... OMIM:224300
Prune Belly Syndrome
Multicystic kidney dysplasia, Congenital hip dislocation, Intestinal malrotation, Pectus excavatu... ORPHA:2970
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... ORPHA:2311
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly ORPHA:3303
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hip dysplasia, Hypospadias, Hip dislocation ORPHA:250994
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Short toe, Hyperinsuline... ORPHA:3085
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Micromelia, Cryptorchidism, Abnormal rib morphology, Ambiguous genitalia ORPHA:2772
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... OMIM:187600
Autosomal Recessive Amelia
Hypoplasia of penis, Small scrotum, Micrognathia, Cryptorchidism, Amelia involving the upper limb... ORPHA:1027
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Micromelia, Adrenal hypoplasia, Cryptorchidism, Hypogonadism ORPHA:85173
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Micropenis, Hamartoma ... OMIM:263520
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Cryptorchidism, Congenital knee dislocation, Scoliosis, Bilateral facial palsy, Flexion contractu... ORPHA:319332
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Optic atrophy, Coxa ... OMIM:602271
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Trisomy 4P
Hypospadias, Camptodactyly of finger, Short neck, Preaxial hand polydactyly, Cryptorchidism, Radi... ORPHA:1738
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme... ORPHA:93267
Distal Duplication 15Q
Omphalocele, Arachnodactyly, Camptodactyly of finger, Short neck, Pectus excavatum, Cryptorchidis... ORPHA:1707
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Cleft palate, Enlarged thorax, Narrow pelvis bone, Multip... ORPHA:66637
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Cdags Syndrome
Hypospadias, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Ky... OMIM:603116
Ulbright-Hodes Syndrome
Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomel... ORPHA:3404
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Seckel Syndrome 1
11 pairs of ribs, Ivory epiphyses, Hypospadias, Abnormal finger flexion crease, Sandal gap, Micro... OMIM:210600
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis, Tapered finger OMIM:618512
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... OMIM:108720
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Omphalocele, Abnormality of the endocrine system, Cryptorchidism, Ventral shorteni... ORPHA:95706
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Facial diplegia, Hip dysp... OMIM:611890
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ... ORPHA:2021
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Short metacarpal, Short thumb ORPHA:2489
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormality of the knee, Short neck, Missing ribs, Micrognathia, Abnormal rib morpho... ORPHA:1834
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing ribs, Hypoplastic ischia, M... OMIM:617866
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, H... OMIM:269860
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep... ORPHA:397715
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly ORPHA:88643
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis, Short palm OMIM:300982
Omodysplasia 2
Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Clinodactyly of the 5th finger, Micrope... OMIM:164745
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... OMIM:215045
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Facial palsy, Abnormality of the tongue muscle, Cryptorchidism, H... ORPHA:370968
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... OMIM:275400
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B... ORPHA:56304
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Tapered finger, Cryptorchidi... ORPHA:85282
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pectus excavatum, Cryptorchidism, Perianal abscess, Clinodactyly, Small hand, Pectus carinatum, B... OMIM:614684
Microcephaly 27, Primary, Autosomal Dominant
Tapered finger, Metatarsus adductus, Cryptorchidism, Short finger, Clinodactyly of the 5th finger... OMIM:619180
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... OMIM:200600
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Distal Duplication 18Q
Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Short neck, Progressive interverteb... ORPHA:1716
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Short middle phalanx of finger, Micropenis, Brachydactyly OMIM:612626
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Inguinal hernia, Rhizomelia, Craniosynostosis, Micrognathia, Crypto... ORPHA:2645
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arac... OMIM:600325
Mmep Syndrome
Cryptorchidism, Split foot, Triphalangeal thumb ORPHA:3434
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Coffin-Siris Syndrome 8
Cryptorchidism, Inguinal hernia, Scoliosis OMIM:618362
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Long thorax, Narrow greate... OMIM:617925
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Ovarian fibroma, Down-sloping shoulders, Kyp... OMIM:109400
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Caudal Duplication
Abnormal penis morphology, Omphalocele, Cryptorchidism, Abnormal sacrum morphology, Bifid sacrum,... ORPHA:1756
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Hypogonadotropic hypogonadism, Hypospadias, Optic nerve hy... OMIM:206900
Weaver Syndrome
Finger syndactyly, Hypoplasia of penis, Inguinal hernia, Sandal gap, Camptodactyly of finger, Mic... ORPHA:3447
Distal Monosomy 7Q36
Hypoplasia of penis, Short neck, Pectus excavatum, Cryptorchidism, Micrognathia, Optic atrophy, C... ORPHA:1636
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Short neck, Micrognathia, Cryptorch... ORPHA:3409
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Developmental And Epileptic Encephalopathy 70
Cryptorchidism, Scoliosis OMIM:618298
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Wagr Syndrome
Micrognathia, Cryptorchidism, Scoliosis, Ambiguous genitalia, Displacement of the urethral meatus ORPHA:893
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Acrocallosal Syndrome
Abnormal clavicle morphology, Inguinal hernia, Hypospadias, Cryptorchidism, Postaxial hand polyda... ORPHA:36
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... OMIM:619797
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Diphallia
Bifid scrotum, Inguinal hernia, Rectoperineal fistula, Hypospadias, Absent thumb, Epispadias, Cry... ORPHA:227
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Abnormal distal phalanx morphology of finger, Hyperlordosis, Micro... ORPHA:1387
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Tapered finger, Micrognathia, Cryptorchidism, Small hand, Short foot ORPHA:3459
Ruvalcaba Syndrome
Inguinal hernia, Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Crypto... ORPHA:3121
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Narrow chest, Absent or minimally ossi... ORPHA:93271
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Distal Deletion 10P
Hypoplasia of penis, Short neck, Micrognathia, Cryptorchidism, Abnormality of the elbow, Cleft pa... ORPHA:1580
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Ambiguous ... ORPHA:276422
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha... ORPHA:1647
Intellectual Developmental Disorder, Autosomal Recessive 44
Bifid uvula, Shawl scrotum OMIM:615942
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ... OMIM:615630
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Inguinal hernia, Short femur, Metaphyseal spurs, Wide cranial sutures, Undul... OMIM:618188
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Micrognathia, Cryptorchidism, Cleft palate, Vertebral segmentation defect, Multiple renal cysts, ... ORPHA:1166
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... OMIM:215140
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... OMIM:304120
48,Xxyy Syndrome
Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogonadism, Elbow dislocation, Cryptorc... ORPHA:10
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Pectus excavatum, Cryptorchidism, Supernumerary vertebrae, Micropenis OMIM:263750
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Micrognathia, Pectus excavatum, Kyphosis, Thyroiditis, Furr... OMIM:615109
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ... OMIM:114300
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Kyphoscoliosis, Crani... ORPHA:65759
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Short neck, Micrognathia, Hemivertebrae, Tibial bowing, Narrow chest... ORPHA:96334
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ... ORPHA:3363
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Abnormal metatarsal morphology, Short neck, Pectus excavatum, Cryptorchidism, S... ORPHA:163654
Arthrogryposis, Distal, Type 1A
Hip contracture, Congenital hip dislocation, Overlapping toe, Rocker bottom foot, Cryptorchidism,... OMIM:108120
X-Linked Intellectual Disability, Cilliers Type
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Hypospadias, Cryptorc... ORPHA:163971
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Unilambdoid synostosis, Scoliosis, Cl... OMIM:618577
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... OMIM:200610
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof OMIM:613676
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Sh... OMIM:609945
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ... OMIM:134780
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Platyspondyly, Short ribs, ... OMIM:241500
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae,... OMIM:268310
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Small scrotum, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Abnormal... ORPHA:2505
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Congenital Myopathy 19
Micrognathia, Cryptorchidism, Bell-shaped thorax, High palate, Scoliosis OMIM:618578
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi... OMIM:220210
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Hypospadias, Broad hallux, Short neck, Micrognathia, Cryptorchidism, Hip... OMIM:614541
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Small ... ORPHA:254516
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Optic atrophy, Hypogonadotropic hypogonadism OMIM:619310
3C Syndrome
Finger syndactyly, Hypoplasia of penis, Inguinal hernia, Hypospadias, Intestinal malrotation, Adr... ORPHA:7
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Cryptorchidism, Short thumb, Radio... OMIM:194350
Proximal Xq28 Duplication Syndrome
Pectus excavatum, Cryptorchidism, Hypospadias ORPHA:1762
Warburg Micro Syndrome 1
Overlapping toe, External genital hypoplasia, Kyphoscoliosis, Micrognathia, Cryptorchidism, Optic... OMIM:600118
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Small scrotum, Cryptorchidism, Optic atrophy, Scoliosis, Short distal phalanx of finger ORPHA:1970
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Genu valgum, Anal atresia ORPHA:1381
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid... OMIM:224400
X-Linked Intellectual Disability, Van Esch Type
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... ORPHA:163976
Alazami-Yuan Syndrome
Cryptorchidism, Broad hallux, High palate OMIM:617126
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Pectus excavatum, Cryptorchidism, Primary amenorrhea, Cleft palate... OMIM:244200
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Clinodactyly of the 5th finger, ... OMIM:601163
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Inguinal hernia, Down-sloping shoulders, Short neck, Coxa val... ORPHA:96263
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Craniofrontonasal Syndrome
Short neck, Sprengel anomaly, Clinodactyly of the 5th finger, Hypospadias, Broad hallux, Cryptorc... OMIM:304110
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism OMIM:250951
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Cleft palate, ... ORPHA:2332
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Absent scrotum OMIM:618479
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnormality of the testis... ORPHA:99330
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Inguinal her... ORPHA:325345
Achondroplasia
Brachydactyly, Lumbar hyperlordosis, Radial bowing, Short femur, Rhizomelia, Bowing of the legs, ... OMIM:100800
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Short neck, Cryptorchidism, Platyspondyly, Cone-shaped epiphyses of the distal ph... OMIM:618958
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Omphalocele, Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly, He... OMIM:264480
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Hypoplasia of penis, Hypoplastic scapulae, Toe ... ORPHA:1512
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Cornelia De Lange Syndrome 5
Toe syndactyly, Proximal placement of thumb, Short neck, Micrognathia, Cryptorchidism, Small hand... OMIM:300882
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abno... ORPHA:2319
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Small hand, Short foot, Hypogonadism, D... OMIM:300869
Macrocephaly, Acquired, With Impaired Intellectual Development
Unilateral cryptorchidism OMIM:618286
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Bicor... OMIM:200980
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ri... OMIM:269150
Shprintzen-Goldberg Syndrome
Inguinal hernia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynosto... ORPHA:2462
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ... OMIM:119600
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Cryptorchidism, Hypoplastic male external genitalia OMIM:618823
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism, Cleft palate, Triphalangeal thumb, Short distal phalanx of finger ORPHA:1912
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Sacral dimple, Tetraamelia, High, narrow palate OMIM:273390
Van Maldergem Syndrome 2
Bifid scrotum, Sacral dimple, Inguinal hernia, Hypospadias, Short fourth metatarsal, Wide cranial... OMIM:615546
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cubitus valgus, Cryptorchidism, Genu valgum, Shawl scrotum ORPHA:1778
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Micrognathia, Cryptorchidism, Optic atrophy, Pectus ca... OMIM:615419
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism OMIM:617564
Ohdo Syndrome, X-Linked
Inguinal hernia, Small scrotum, Overlapping toe, Hiatus hernia, Micrognathia, Cryptorchidism, Cli... OMIM:300895
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Bifid scrotum, Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia ORPHA:363741
Mcdonough Syndrome
Micrognathia, Pectus excavatum, Cryptorchidism, Kyphosis, Scoliosis ORPHA:2471
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum,... ORPHA:2522
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Short neck, Hamartoma of tongue, Postaxial polydactyly, Micromelia, Preaxial p... OMIM:616546
20Q11.2 Microduplication Syndrome
Bifid scrotum, Sacral dimple, Inguinal hernia, Prominent metopic ridge, Pectus excavatum, Cryptor... ORPHA:363659
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Inguinal hernia, Syndactyly, Down-sloping shoulders, Pectus excavatum, Cryptorc... OMIM:227330
Nicolaides-Baraitser Syndrome
Joint dislocation, Sandal gap, Cryptorchidism, High, narrow palate, Abnormal finger morphology, C... ORPHA:3051
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Short thorax, Genu valgum, Hypogonadism... ORPHA:2983
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Short neck, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of t... OMIM:271665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Hyperlordosis, Cryptorchidism, Hip dislocation, Macroglossia, Scoliosis, Micropenis OMIM:613156
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Micrognathia, Cryptorchidism, Midshaft hypospadias, High palate, Wormian... ORPHA:2863
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Sandal gap, Cryptorchidism, Kyphosis, Small hand, Short foot, Macroglossia, Hypogona... OMIM:300354
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Pectus excavatum of inferior sternum, Small scrotum, Rocker bottom foot, Tapered finger, Cryptorc... OMIM:601353
Renpenning Syndrome
Diabetes mellitus, Hypospadias, Pectus excavatum, High, narrow palate, Abnormal thumb morphology,... ORPHA:3242
Noonan Syndrome 12
11 pairs of ribs, Decreased response to growth hormone stimulation test, Proximal placement of th... OMIM:618624
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
3Mc Syndrome 3
Bifid scrotum, Sacral dimple, Cryptorchidism, Clinodactyly, Preaxial polydactyly, Cleft palate, R... OMIM:248340
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Micrognathia, Pectus excavatum, Kyphosis, Thyroiditis, Furr... OMIM:158350
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Penoscrotal Transposition
Abnormal external genitalia, Hypospadias, Micrognathia, Penoscrotal transposition, Patellar aplas... ORPHA:2842
Leopard Syndrome 1
Scapular winging, Hypospadias, Kyphoscoliosis, Short neck, Missing ribs, Cryptorchidism, Pectus e... OMIM:151100
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Inguinal hernia, Hypospadias, Broad hallux, 1-3 toe syndactyly, Craniosynos... OMIM:175700
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Short metatarsal, Spinal canal ... OMIM:614613
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... ORPHA:140
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Cryptorchidism, Kyphosis, Scoliosis, Flexion contracture of finger, Adducted thumb OMIM:618484
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, High, narrow palate, 2-3 toe cutan... OMIM:600920
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Cryptorchidism, Hand polydactyly, Type II diabetes mellit... ORPHA:2377
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism, Micrognathia, Genu varum OMIM:604317
Chromosome 18P Deletion Syndrome
Barrel-shaped chest, Toe syndactyly, Short neck, Micrognathia, Cryptorchidism, Coxa vara, Gonadal... OMIM:146390
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Intellectual Developmental Disorder, X-Linked 106
Hypospadias, Cryptorchidism, Clinodactyly of the 5th finger, Clinodactyly, Decreased testicular size OMIM:300997
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchi... ORPHA:2083
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Rhizomelia, Mi... OMIM:602471
Pierpont Syndrome
Short neck, Cryptorchidism, Short toe, Short foot, Scoliosis, Short palm, Prominent fingertip pad... OMIM:602342
Teebi Hypertelorism Syndrome 1
Omphalocele, Sagittal craniosynostosis, Micrognathia, Small hand, Hydrocele testis, Bicornuate ut... OMIM:145420
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Microcephalic Primordial Dwarfism, Montreal Type
Micrognathia, Cryptorchidism, Kyphosis, Congenital pyloric atresia, Vertebral segmentation defect... ORPHA:2617
Temple Syndrome
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Cryptorchidism, Small han... OMIM:616222
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum, Optic atrophy ORPHA:370924
Hallermann-Streiff Syndrome
Micrognathia, Cryptorchidism, High, narrow palate, Small hand, Short foot, Glossoptosis, Rib exos... ORPHA:2108
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Cleft palate, Ulnar ... ORPHA:921
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Syndactyly, Sacral dimple, Hypospadias, Broad hallux, Hand polydactyly, High palat... OMIM:239710
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Rocker bottom foot, Adrenal hypoplasia, Cryptorchidi... OMIM:617053
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... OMIM:119500
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Tapered finger, Cryptorchidism, High palate, Short palm, Clinodactyly, D... ORPHA:85279
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi... ORPHA:3472
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Small scrotum, Optic atrophy OMIM:615597
Hand-Foot-Genital Syndrome
Bifid scrotum, Shortening of all middle phalanges of the fingers, Hypospadias, Proximal placement... OMIM:140000
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Cryptorchidism, Kyphosis, Abnormal sho... ORPHA:2115
Rin2 Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidism, Abnormal sternum... ORPHA:217335
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... OMIM:208500
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormal autonomic nervous system physiology,... ORPHA:168593
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Down-sloping shoulders, Short neck, Coxa valga, Cryptorchidis... ORPHA:96264
Trisomy 13
Cryptorchidism, Kyphosis, High, narrow palate, Optic atrophy, Abnormal rib morphology, Cleft pala... ORPHA:3378
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia OMIM:616910
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Cryptorchidism, Increase... OMIM:616817
Pierpont Syndrome
Short neck, Cryptorchidism, Short toe, Scoliosis, Short finger, Prominent fingertip pads ORPHA:487825
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Facial palsy, Hyperlordosis, Abnormal rib mor... ORPHA:3068
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal rib morphology, Anteriorly placed anus, Anterior hypopituitarism, Ce... ORPHA:280195
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short thu... OMIM:613390
Microphthalmia, Syndromic 12
Intestinal malrotation, Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus OMIM:615524
Satoyoshi Syndrome
Abnormality of the knee, Hyperlordosis, Tapered finger, Abnormality of the humerus, Abnormality o... ORPHA:3130
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Optic atrophy, Pectus carinatum, Hip dyspla... ORPHA:496790
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Brachydactyly, Hypogonadotropic hypogonadism, Genu valgum, Ab... ORPHA:1295
Robinow Syndrome
Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web... ORPHA:97360
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Spinal rigidity, Pectus excavatum, Cryptorchidism, High palate, Scoliosis, Delayed puberty ORPHA:486815
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism, Overlapping toe, Scoliosis ORPHA:466926
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Tapered finger, Cryptorchidism, Short toe, Hypogonadism, Abno... ORPHA:127
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Pectus excavatum, Cryptorchidism, Abnormality of the elb... ORPHA:2701
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Trisomy 1Q
Omphalocele, Microretrognathia, Multicystic kidney dysplasia, Small scrotum, Arachnodactyly, Toe ... ORPHA:261344
Schaaf-Yang Syndrome
Rocker bottom foot, Tapered finger, Cryptorchidism, Kyphosis, Clinodactyly, Small hand, Short foo... OMIM:615547
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone st... OMIM:614732
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Gorlin Syndrome
Vertebral fusion, Hypogonadotropic hypogonadism, Arachnodactyly, Cryptorchidism, Hemivertebrae, V... ORPHA:377
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Short neck, Micrognathia, Cryptorchidis... OMIM:257300
Currarino Syndrome
Bifid scrotum, Sacrococcygeal teratoma, Hypoplasia of penis, Hypospadias, Male pseudohermaphrodit... ORPHA:1552
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Sagittal cranio... ORPHA:2872
Oculocerebrocutaneous Syndrome
Cryptorchidism, Abnormal thorax morphology, Congenital hip dislocation, Cleft palate OMIM:164180
Orofaciodigital Syndrome Xiv
Microretrognathia, Broad hallux, Hamartoma of tongue, Micrognathia, Epispadias, Cryptorchidism, O... OMIM:615948
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Micrognathia, Cryptorchidism, Kyphosis, Joint contracture of the 5th finger, Sco... ORPHA:352490
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:2790
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Micrognathia, Cryptorchidism, 2-3 toe syndactyly, High palate, Scoliosis, Hypoplastic male extern... ORPHA:502434
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... OMIM:154400
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Clitor... OMIM:305600
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Cryptorchidism, Pyloric s... ORPHA:96184
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Filippi Syndrome
2-4 toe syndactyly, Cryptorchidism, Optic atrophy, Cutaneous syndactyly, Finger clinodactyly, Amb... OMIM:272440
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Supernumerary nipple, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618840
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Hypospadias, Toe syndactyly, Supern... ORPHA:217346
Freeman-Sheldon Syndrome
Cryptorchidism, Camptodactyly of finger, Scoliosis, Ulnar deviation of finger ORPHA:2053
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Abnormal thorax morphology ORPHA:638
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Hypothyroidism, Patellar hypoplasia OMIM:619189
Jacobsen Syndrome
Hypospadias, Short neck, Pectus excavatum, Cryptorchidism, Missing ribs, Pyloric stenosis, Optic ... OMIM:147791
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Papillar... ORPHA:93111
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Abnormal peripheral action po... ORPHA:457205
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Prominent metopic ridge, Cryptorchidism, High palate, Scoliosis, Clinodactyly OMIM:620316
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Craniosynostosis, Micrognathia, Cryptorchi... ORPHA:171839
Imagawa-Matsumoto Syndrome
Anteriorly placed anus, Cryptorchidism, Clinodactyly, Camptodactyly OMIM:618786
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... ORPHA:2635
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... ORPHA:1354
Recessive X-Linked Ichthyosis
Cryptorchidism ORPHA:461
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Proximal placement of thumb, Short neck, Renal cyst, Pr... OMIM:229850
Stt3A-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370921
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Male pseudohermaphroditi... ORPHA:2075
Ulnar-Mammary Syndrome
Abnormal clavicle morphology, Hypoplasia of penis, Abnormal finger morphology, Pectus carinatum, ... ORPHA:3138
Chung-Jansen Syndrome
Tapered finger, Micrognathia, Cryptorchidism, Hip dysplasia, High palate, Clinodactyly of the 5th... OMIM:617991
Rahman Syndrome
Cryptorchidism, Kyphoscoliosis, Camptodactyly OMIM:617537
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Short nec... OMIM:613686
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Symphalangism affecting the ... ORPHA:2990
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Hypoplastic s... OMIM:308050
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... OMIM:608022
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrod... OMIM:156400
Retinitis Pigmentosa 59
Cryptorchidism, Micropenis OMIM:613861
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism OMIM:601794
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Protruding tongue, Mic... ORPHA:50945
Triploidy
Omphalocele, Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Short n... ORPHA:3376
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Hemivertebrae, Anteriorly placed anus, Vertebral segmentation defec... OMIM:617661
Branchial Arch Syndrome, X-Linked
Cryptorchidism OMIM:301950
Gm1 Gangliosidosis
Inguinal hernia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Optic atrophy, Abnormal form o... ORPHA:354
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabular roo... OMIM:617159
Chromosome 6Q11-Q14 Deletion Syndrome
Sacral dimple, Inguinal hernia, Short neck, Bilateral cryptorchidism, Micrognathia, High palate OMIM:613544
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Kyphoscoliosis OMIM:300886
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Short neck, Micrognathia, Cryptorchidism, Short toe, Pectus carinatum, High palate ORPHA:98791
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ... ORPHA:2345
Fetal Akinesia Deformation Sequence 2
Cryptorchidism, High palate, Cleft palate, Micrognathia OMIM:618388
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Thora... OMIM:619542
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Hypospadias, Overlapping toe, Tapered finger, Cryptorchidism, Optic atrophy, High palate, Scoliosis OMIM:300004
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal rib morphology, Hemivert... ORPHA:2759
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Pectus excavatum, Patellar aplasia, Hy... OMIM:161200
Qazi-Markouizos Syndrome
Tapered finger, Pectus excavatum, Cryptorchidism, High, narrow palate, Delayed ossification of ca... ORPHA:3010
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Vertebral segmentation defect, Hip ... ORPHA:531151
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Aplasia of the epiglottis, C... OMIM:617088
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Hemive... ORPHA:85284
German Syndrome
Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, High palate, Ambiguous genitalia ORPHA:2077
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Prominent metopic ridge, Hypospadias, Overlapping toe, Tapered finger, Micrognathi... OMIM:619148
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Inguinal hernia, Hypospadias, Overlapping toe, Micrognathia, Cryptorchidism, Cutan... OMIM:613026
Myhre Syndrome
Abnormal penis morphology, Inguinal hernia, Brachydactyly, Hypospadias, External genital hypoplas... ORPHA:2588
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Hypospadias OMIM:618815
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Scapular winging, Lumbar hyperlordosis, Small scrotum, Congenital hip dislocation, T... OMIM:609625
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Thoracic scoliosis, Inguinal hernia, Short neck, Micrognathia, Cryptorchidism, Fac... OMIM:618000
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Micro... OMIM:201000
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micromelia, Elbow dislocation, C... ORPHA:93329
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Trisomy 8Q
Hypoplasia of penis, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Cleft pal... ORPHA:1752
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Kyphoscoliosis, Protruding tongue, Tapered finger, Cryptorchidism, Kyphosis, Clinoda... OMIM:301040
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,... ORPHA:83628
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Broad hallux, Hypospadias, Tapered finger, Pectus excavatum, Cryptorchidism, Short... OMIM:618659
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Micrognathia, Cryptorchidism, Hypothyroidism ORPHA:85321
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micromelia, Anisospondyly, Micrognathia, Cryptorchidism, Short long bon... OMIM:224410
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Cryptorchidism,... ORPHA:110
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... OMIM:300863
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Patellar aplasia, Abnormal rib... ORPHA:96061
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short ... OMIM:312870
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Larsen Syndrome
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Cryptorchidism, Acc... ORPHA:503
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Clinodactyly, Cleft palate, Primary amenorrhea, Ec... OMIM:147950
Joubert Syndrome 37
Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, High palate... OMIM:619185
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... ORPHA:95496
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Marden-Walker Syndrome
Inguinal hernia, Hypospadias, Arachnodactyly, Short neck, Micrognathia, Cryptorchidism, Kyphosis,... OMIM:248700
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Broad hallux, Overlapping toe, Micrognathia, Cryptorchidism, Insul... ORPHA:293967
C Syndrome
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Mi... OMIM:211750
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Cryptorchidism, Hyperlordosis ORPHA:1192
Perlman Syndrome
Hypoplasia of penis, Inguinal hernia, Micrognathia, Cryptorchidism, High, narrow palate, Abnormal... ORPHA:2849
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Bilateral cryptorchidism, Pyloric stenosis, Pectus excavatum, High palate ORPHA:314575
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Inguinal hernia, Hypospadias, Pectus excavatum, Cryptorchid... ORPHA:1786
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum... OMIM:276820
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, High palate, Narrow chest ORPHA:1702
15Q24 Microdeletion Syndrome
Brachydactyly, Hypospadias, Decreased response to growth hormone stimulation test, Proximal place... ORPHA:94065
Recombinant Chromosome 8 Syndrome
Micrognathia, Pectus excavatum, Cryptorchidism, Scoliosis, Camptodactyly, Clinodactyly of the 5th... OMIM:179613
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... ORPHA:95699
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Micrognathia, Cryptorchidism, Bell-shaped thorax, Horizontal ribs OMIM:614857
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Microphthalmia, Syndromic 8
Cryptorchidism, Split foot, Cleft palate OMIM:601349
Braddock Syndrome
Missing ribs, Pectus excavatum, Short neck, Preaxial hand polydactyly, Micrognathia, Hemivertebra... ORPHA:52047
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Micrognathia, Knee flexion contracture, High palate, Intercrural pterygium, Camptodac... OMIM:265000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypoplasia of the u... ORPHA:2232
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Arachnodactyly, Pectus excavatum, Cryptorchidism, Pectus carinatum, Scoliosis, Camptodactyly OMIM:301039
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Short Stature-Micrognathia Syndrome
Small scrotum, Rhizomelia, Broad femoral neck, Bowing of the legs, Coxa valga, Cryptorchidism, Me... OMIM:617164
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Xerostomia, Pectus carinatum, Anal ... OMIM:100100
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Cryptorchidism, High, narrow palate, Abnormal... ORPHA:1439
Aicardi Syndrome
Intestinal polyposis, Block vertebrae, Missing ribs, Precocious puberty, Hiatus hernia, Malabsorp... ORPHA:50
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Osteopathia striata, Pectus carinatum, High palate, Finger join... OMIM:212720
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Finger syndactyly, Hypospadias, Camptodactyly of finger, Hyperlordo... ORPHA:568
Warburg Micro Syndrome 3
Small scrotum, Kyphoscoliosis, Micrognathia, Hypoplastic labia minora, Optic atrophy, Narrow pala... OMIM:614222
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Inguinal hernia, Micrognathia, Cryptorchidism, Abnormal femur morphology... ORPHA:2063
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Sandal gap, Cryptorchidism, Hip dysplasia, Short palm, Clinodactyly of the 5... ORPHA:228402
Acrofrontofacionasal Dysostosis
Bifid scrotum, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Cleft palate, Hig... ORPHA:1784
8P11.2 Deletion Syndrome
Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, ... ORPHA:251066
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Inguinal hernia, Small scrotum, Arachnodactyly, Camptodactyly of finger, Promi... ORPHA:2215
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Pectus carinatum, High pal... ORPHA:958
Periventricular Nodular Heterotopia 7
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... OMIM:617201
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Sandal gap, Micrognathia, Precocious puberty... ORPHA:813
Diabetic Embryopathy
Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Cleft palate, Vertebral segmentation de... ORPHA:1926
Birk-Aharoni Syndrome
Cryptorchidism, Micropenis, Micrognathia OMIM:620071
Hereditary Bullous Dystrophy, Macular Type
External genital hypoplasia, Tapered finger, Cryptorchidism, Short finger, Decreased testicular size ORPHA:1867
17Q23.1Q23.2 Microdeletion Syndrome
Long toe, Sacral dimple, Sandal gap, Long fingers, Patellar hypoplasia, Abnormal epiphysis morpho... ORPHA:261279
Tonne-Kalscheuer Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Velopharyngeal insufficiency, Broad thumb, Micropenis,... OMIM:300978
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation defect, High p... OMIM:611209
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone stimulation test, Short ... OMIM:618336
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Ante... ORPHA:1488
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Micrognathia, Abnormal optic disc morphology, Thoracic kyphosis, ... ORPHA:508498
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnorm... ORPHA:93351
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
Global Developmental Delay With Speech And Behavioral Abnormalities
Inguinal hernia, Supernumerary nipple, Micrognathia, Precocious puberty, Cryptorchidism, Anal atr... OMIM:619243
Focal Dermal Hypoplasia
Omphalocele, Finger syndactyly, Inguinal hernia, Multicystic kidney dysplasia, Toe syndactyly, Co... ORPHA:2092
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Fg Syndrome 3
Cryptorchidism, Broad hallux, Pyloric stenosis, Broad thumb OMIM:300406
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Phocomelia, Microgastria, Multicystic kidney dysplasia, Aplastic clav... ORPHA:2538
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism OMIM:210700
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Inguinal hernia, Cryptorchidism, Optic atrophy, Cleft palate ORPHA:1252
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short neck, Micrognathia, Short metatarsal, Renal cyst, High palate, Narrow chest, Clinodactyly o... OMIM:266920
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... ORPHA:3320
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Gonadal dysgenesis, High palate, Hypogona... ORPHA:3306
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Inguinal hernia, Hypothyroidism OMIM:613970
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Prominent metopic ridge, Hyperthyroidism, Decreased response to grow... ORPHA:488632
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism, Inguinal hernia, Tapered finger ORPHA:85322
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, 2-3 toe syndactyly, Tapered finger ORPHA:589905
Silver-Russell Syndrome 3
Syndactyly, Unilateral cryptorchidism, Small hand, Antecubital pterygium, Clinodactyly of the 5th... OMIM:616489
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Hypospadias OMIM:620135
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Broad ha... ORPHA:2308
Goldberg-Shprintzen Megacolon Syndrome
Bifid scrotum, Finger syndactyly, Aganglionic megacolon, Hypospadias, Cleft palate ORPHA:66629
Congenital Myopathy 9A
Cryptorchidism OMIM:618822
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, 2-3 to... OMIM:620025
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Sacral dimple, Overlapping toe, Down-sloping shoulders, Short neck, Tapered finger, Cryptorchidis... OMIM:617452
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cleft soft palate, Short neck, Micrognathia, Cryptorchidism, Male pseudohermaphrodit... ORPHA:2282
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Shortening of all distal phal... OMIM:619135
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of the 5t... OMIM:136140
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Craniosynostosis, Cryptorchidism, Optic atrophy, Narrow palate, Cleft palate, Ante... ORPHA:1555
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Cryptorchid... ORPHA:178303
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Pyloric stenosis, Thin ribs ORPHA:169189
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Abnormal rib morphology, Abnormal form of t... ORPHA:52
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal sternum morphology, Unilateral cryptorchidism, Optic nerve hypoplasia, Pectus carinatum ORPHA:137634
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Optic atrophy, Diaphyseal thickening ORPHA:1513
Recombinant 8 Syndrome
Small scrotum, Camptodactyly of finger, Micrognathia, Pectus excavatum, Cryptorchidism, Patellar ... ORPHA:96167
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Hypospadias, Broad hallux, Micrognathia, Cryptorchidism, Short toe, Short metat... ORPHA:439822
Aniridia-Absent Patella Syndrome
Cryptorchidism, Inguinal hernia, Aplasia/Hypoplasia of the patella ORPHA:1069
Oculoskeletodental Syndrome
Cryptorchidism, Elbow flexion contracture, Macroglossia, Abnormal sternum morphology, Thoracic ky... OMIM:618440
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
X-Linked Intellectual Disability, Cantagrel Type
Shawl scrotum ORPHA:85277
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Scoliosis, Female infertility OMIM:619518
3Q29 Microdeletion Syndrome
Pectus excavatum, Six lumbar vertebrae, Hypospadias, Pectus carinatum ORPHA:65286
Flat Face-Microstomia-Ear Anomaly Syndrome
Inguinal hernia, Small scrotum, Camptodactyly of finger, Micrognathia, Cryptorchidism, High, narr... ORPHA:1968
Kapur-Toriello Syndrome
Intestinal malrotation, Camptodactyly of finger, Short neck, Cryptorchidism, Short thumb, Cleft p... OMIM:244300
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Optic disc pallor, Cystic renal dysplasia OMIM:613730
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Waardenburg Syndrome, Type 1
Sprengel anomaly, Aplasia of the vagina, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Hypospadias, Cleft palate, Short long bone, Scoliosis, Short palm, Bicoronal sy... OMIM:619184
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma ORPHA:281090
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Müllerian Aplasia And Hyperandrogenism
Short neck, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Shield chest, Increased s... ORPHA:247768
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Long toe, Hypospadias, Intestinal malrotation, Overlapping toe, Pectus excavatum, Cr... OMIM:618316
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Rocker bottom foot, Supernumerary nipple, Camptodactyly of finger, Mic... OMIM:619951
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Micropenis OMIM:610756
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... OMIM:213980
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Camptodactyly of finger, Micrognathia, Cryptorchidism, Cleft palate, Scoli... ORPHA:994
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Micrognathia, Cryptorchidism, Ambiguou... ORPHA:452
Arthrogryposis, Distal, Type 2A
Joint dislocation, Short neck, Knee flexion contracture, High palate, Spina bifida occulta, Wrist... OMIM:193700
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Sacral dimple, Cleft palate OMIM:615502
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Congenital hip dislocation, Wide cranial sutures, Pectus excavatum, Cryptorchidi... OMIM:219150
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Pectus excavatum, Cryptorchidism, High, n... OMIM:612513
Pyknoachondrogenesis
Hypoplastic ischia, Short iliac bones, Micromelia, Short thorax, Abnormal iliac wing morphology, ... ORPHA:3003
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... OMIM:608800
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Inguinal hernia, Scoliosis ORPHA:485350
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Micropenis, Hypothal... ORPHA:398069
Orofaciodigital Syndrome Type 4
Joint dislocation, Micromelia, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the tibia... ORPHA:2753
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia mo... ORPHA:2879
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Diabetes mellitus, Micrognathia, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism OMIM:615381
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Short metatarsal, Elevated circulating thyroid-stimulating hormone... OMIM:101800
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Intestinal malrotation, Cryptorchidism, Short thumb, Disl... ORPHA:401935
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Inguinal hernia, Short neck, Metatarsus adductus, Micrognathia... OMIM:616266
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Kyphoscoliosis, Coxa valga, Micrognathia, Cryptorchidism, Elbow flexion contr... OMIM:214150
Opitz Gbbb Syndrome
Bifid scrotum, Omphalocele, Enlarged ovaries, Inguinal hernia, Hypospadias, Prominent metopic rid... ORPHA:2745
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Pectus carinatu... OMIM:617796
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Cryptorchidism, Hip dysplasia, Camptodactyly, Hemihypotrophy of lower limb ORPHA:412035
Mosaic Trisomy 9
Hypoplasia of penis, Intestinal malrotation, Rocker bottom foot, Short neck, Camptodactyly of fin... ORPHA:99776
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Ohdo Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, Small scrotum, Micrognathia OMIM:249620
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism ORPHA:1338
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... OMIM:176270
Intellectual Developmental Disorder, X-Linked 12
Hip subluxation, Cryptorchidism, Microphallus OMIM:300957
Cranioectodermal Dysplasia 2
Syndactyly, Inguinal hernia, Rhizomelia, Craniosynostosis, Short neck, Pectus excavatum, Microgna... OMIM:613610
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Split hand, Clubbing, Cleft palate, Shawl scrotum, Micropenis OMIM:600460
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Anteriorly placed anus, Abnormality of the uterus, Triphalang... ORPHA:857
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Pseudoh... ORPHA:464288
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... OMIM:114290
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Abnormal vertebral morphology ORPHA:88639
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty... OMIM:300963
Pagod Syndrome
Omphalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Optic atrophy, Agonadism... ORPHA:991
Emanuel Syndrome
Sacral dimple, Inguinal hernia, Congenital hip dislocation, Kyphoscoliosis, Micrognathia, Cryptor... ORPHA:96170
Martin-Probst Syndrome
Bifid scrotum, Micrognathia, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyroi... OMIM:300519
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Supernumerary nipple, Scoliosis OMIM:617635
Allan-Herndon-Dudley Syndrome
Abnormality of thyroid physiology, Kyphoscoliosis, Pectus excavatum, Cryptorchidism, Ankle clonus ORPHA:59
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3... OMIM:206920
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Decreased nerve conducti... OMIM:618356
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis OMIM:618504
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Inguinal hernia, Short metacarpal, Hypospadias, Short neck, Metata... OMIM:123450
Chromosome 3Pter-P25 Deletion Syndrome
Sacral dimple, Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Tapered finger, M... OMIM:613792
Lateral Meningocele Syndrome
Inguinal hernia, Prominent metopic ridge, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Pe... ORPHA:2789
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism OMIM:619595
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Hypothyroidism OMIM:619908
Osteoglophonic Dysplasia
Short neck, Short metatarsal, High palate, Short palm, Short phalanx of finger, Pseudoarthrosis, ... OMIM:166250
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Precocious puberty, Hiatus hernia, Op... OMIM:304050
Warburg Micro Syndrome 2
Small scrotum, Overlapping toe, Cryptorchidism, Optic atrophy, Hypoplastic labia majora, Micropen... OMIM:614225
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Precocious puberty, Long fingers, Hip di... ORPHA:447980
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Epispadias, Cryptorchidism, Rib fusion, Vertebral arch ... OMIM:148050
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Micrognathia, Epispadias, High, narrow palate, Clitoral hypoplasia, Clinodac... ORPHA:2554
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples OMIM:616001
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Hypospadias, Micrognathia, Glandular hypospadias, Shawl scrotum ORPHA:2575
Trisomy 18P
Facial palsy, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Abno... ORPHA:1715
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Hypospadias, Cryptorchidism, Short 5th finger, Scoliosis, Acromesomelia ORPHA:500159
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Diabetes mellitus, Cryptorchidism, Shawl scrotum, Pancreatic aplasia ORPHA:261265
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Micrognathia, Hemivertebr... OMIM:151050
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Pectus excavatum, Cryptorchidism, Slender finger, Scoliosis, Clinodactyly of the... ORPHA:329224
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic h... ORPHA:465508
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Arachnodactyly, Kyphoscoliosis, Cryptorchidism, Testicular torsion ORPHA:75496
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Optic atrophy, Hip dysplasia, Scoliosis ORPHA:494344
Tyshchenko Syndrome
Supernumerary nipple, Pectus excavatum, Cryptorchidism, High, narrow palate, Narrow palate, Cleft... OMIM:615102
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Decreased serum insulin-like growth factor 1, Pectus excavatum, Cryptorchidism... ORPHA:314389
Trisomy 20P
Finger syndactyly, Inguinal hernia, Hypospadias, Camptodactyly of finger, Short neck, Micrognathi... ORPHA:261318
Noonan Syndrome 6
Pectus excavatum, Cryptorchidism, Abnormal sternum morphology, Short neck OMIM:613224
Squalene Synthase Deficiency
Hypospadias, Optic nerve hypoplasia, Micrognathia, Bilateral cryptorchidism, Elbow flexion contra... OMIM:618156
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... OMIM:181450
Intellectual Developmental Disorder, Autosomal Dominant 51
Long toe, Cryptorchidism, Unilateral cryptorchidism OMIM:617788
Lenz-Majewski Hyperostotic Dwarfism
External genital hypoplasia, Epispadias, High, narrow palate, Abnormal finger morphology, Symphal... ORPHA:2658
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Cryptorchidism, Clinodactyly, Short neck OMIM:616789
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Optic atrophy, Micropen... OMIM:615663
Endocrine-Cerebroosteodysplasia
Small scrotum, Micromelia, Micrognathia, Adrenal hypoplasia, Preaxial polydactyly, Tibial bowing,... OMIM:612651
Urofacial Syndrome 1
Cryptorchidism OMIM:236730
2Q31.1 Microdeletion Syndrome
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... ORPHA:251014
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Hypospadias, Arachnodactyly, Coxa valga, Elbow dislocation, Cryptorchidism, Me... OMIM:620083
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Hypoplastic ischia, Micrognathia, H... ORPHA:85201
Congenital Multicore Myopathy With External Ophthalmoplegia
Small scrotum, Facial palsy, Cryptorchidism, Facial diplegia, High palate, Scoliosis, Micropenis ORPHA:98905
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... OMIM:218600
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Hig... OMIM:182212
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Hypospadias, Ankle flexion contracture, Tapered finger, Cryptorchidism, Knee f... ORPHA:435938
Coffin-Siris Syndrome 2
Inguinal hernia, Brachydactyly, Sandal gap, Cryptorchidism, Cleft palate, Macroglossia, High pala... OMIM:614607
Noonan Syndrome 13
Prominent metopic ridge, Overlapping toe, Short neck, Tapered finger, Cryptorchidism, Metatarsus ... OMIM:619087
Cranioectodermal Dysplasia 1
High, narrow palate, High palate, Narrow chest, Rhizomelia, Sagittal craniosynostosis, Short toe,... OMIM:218330
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Short neck, Micrognathia, Cryptorchidism, Pancreatic lymphangiectasis, Postaxial... ORPHA:1655
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Sandal gap, Pectus excavatum, Short toe, Prominent sternum, High palate, Clinod... OMIM:617877
Tetrasomy 9P
Joint dislocation, Short neck, Micrognathia, High palate, Clinodactyly of the 5th finger, Micrope... ORPHA:3310
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Craniosynostosis, Short neck, Preco... ORPHA:254346
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Coronal craniosynostosis, Small scrotum, Hypogonadism ORPHA:228390
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Lateral clavicle hook, Cryptorchidism, Patellar aplasia, Slender l... OMIM:613804
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Optic atrophy, Hypospadias, Decreased testicular size OMIM:610198
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Arachnodactyly, Overlappi... ORPHA:505237
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Broad hallux, Short neck, Pectus excavatum, Cryptorchidism, Tapered finger, Short thumb, Microgna... OMIM:620224
Ogden Syndrome
Microretrognathia, Inguinal hernia, Broad hallux, Cryptorchidism, High, narrow palate, Scoliosis,... ORPHA:276432
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A... ORPHA:73246
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Spina bifida occulta OMIM:618060
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Congenital hip dislocation, Ulnar deviation of the 3rd... ORPHA:456312
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, Ectrodactyly, O... ORPHA:3016
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... OMIM:608940
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Intestinal malrotation, Postaxial polydactyly, Micrognathia, Cryptorchidism, Kyphosis, 2-3 toe sy... ORPHA:404440
Micro Syndrome
Hypoplasia of penis, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Optic atro... ORPHA:2510
Suleiman-El-Hattab Syndrome
Microretrognathia, Optic disc pallor, Inguinal hernia, Cryptorchidism, High palate, Polydactyly, ... OMIM:618950
Floating-Harbor Syndrome
Enlarged joints, Short neck, Renal cyst, Humeral pseudarthrosis, Dislocated radial head, Short me... ORPHA:2044
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Hypospadias, Proximal placement of thumb, Short neck, Micrognathia, Cryptorchidism, C... OMIM:217980
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cryptorchidism, Kyphosis, Spinal canal st... ORPHA:1724
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... OMIM:615849
Exstrophy-Epispadias Complex
Bifid scrotum, Omphalocele, Inguinal hernia, Anal stenosis, Bifid uterus, Epispadias, Cryptorchid... ORPHA:322
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit... ORPHA:2378
Vacterl With Hydrocephalus
Absence of the sacrum, Inguinal hernia, Micrognathia, Cryptorchidism, Esophageal atresia, Hypopla... ORPHA:3412
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism OMIM:618917
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Codas Syndrome
Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ... OMIM:600373
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Dysmenorrhea, Vulval varicose vein, Infertility, Abnormal a... ORPHA:71273
Snijders Blok-Fisher Syndrome
Cryptorchidism OMIM:618604
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Optic atrophy, Clino... ORPHA:3255
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Duodenal stenosis, Intestinal malrotation, Missing ribs ORPHA:1759
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty,... OMIM:619718
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Fryns Syndrome
Omphalocele, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Intestinal malrota... ORPHA:2059
Laurence-Moon Syndrome
Micropenis, Small scrotum, Polydactyly OMIM:245800
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Short neck, Micrognathia, Multiple joint dislocation, Pectus carinatum, Knee dislocation, Shoulde... OMIM:245600
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulde... ORPHA:536532
Noonan Syndrome 5
Cubitus valgus, Cryptorchidism, Abnormal sternum morphology, Short neck OMIM:611553
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Shawl scrotum OMIM:614187
1P36 Deletion Syndrome
Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Hypothyroidism, Abnormality of t... ORPHA:1606
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Ritscher-Schinzel Syndrome 4
Tapered finger, Cryptorchidism, Hip dislocation, Narrow palate, Hip dysplasia, High palate, Scoli... OMIM:619435
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th... ORPHA:249
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiph... OMIM:613805
6Q Terminal Deletion Syndrome
Hallux valgus, Aplasia/Hypoplasia of the ribs, Prominent metopic ridge, Hypospadias, Short neck, ... ORPHA:75857
Charge Syndrome
Bifid scrotum, Abnormal tibia morphology, Hemivertebrae, Clinodactyly of the 5th finger, Micropen... ORPHA:138
Koolen-De Vries Syndrome
Vertebral fusion, Hypospadias, Arachnodactyly, Pectus excavatum, Cryptorchidism, Kyphosis, High, ... ORPHA:96169
Pontocerebellar Hypoplasia Type 7
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, High ... ORPHA:284339
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Brachydactyly, Cleft soft palate, Kyphoscoliosis, Micrognathia, Cryptorchidism, Cl... OMIM:616331
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Micrognathia, Cryptorchidism, Sm... ORPHA:2323
X-Linked Intellectual Disability, Seemanova Type
Cryptorchidism, Hypogonadism ORPHA:85323
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Optic atrophy, Limited mobility of proximal interphalangea... OMIM:222300
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Supernumerary nipple, Pectus excavatum, Cryptorchidism, 3-4 finger cutaneous syndacty... OMIM:612530
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Cryptorchidism, High, narrow palate, Cleft palate, Anteriorly placed anus, Hip d... OMIM:618494
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Myopathy, Centronuclear, X-Linked
Arachnodactyly, Facial palsy, Cryptorchidism, Pyloric stenosis, Slender toe, High palate OMIM:310400
Ohdo Syndrome, Sbbys Variant
Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Patellar dislocation, Long thumb, Hypoth... OMIM:603736
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Intestinal malrotation, Arachnodactyly, Sandal gap, Pectus excavatum, Cryptorchidism... OMIM:617602
Fg Syndrome Type 1
Finger syndactyly, Sacral dimple, Inguinal hernia, Hypospadias, Optic nerve hypoplasia, Abnormal ... ORPHA:93932
Intellectual Developmental Disorder, Autosomal Recessive 65
Inguinal hernia, Prominent metopic ridge, Hypospadias, Supernumerary nipple, Cryptorchidism, Cont... OMIM:618109
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Tapered finger, Cryptorchidism, Hip dysplasia, Scoliosis, Labial hypoplasia, Clinoda... OMIM:619293
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Microretrognathia, Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:300998
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... OMIM:150250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Short neck, Cryptorchidism, Cleft palate, Drumstick terminal phalanges, Bifid ... OMIM:612938
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Cryptorchidism, Kyphosis, Cleft palate, Camptodactyly, Clinodactyly of the 5th fing... OMIM:619123
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia OMIM:266810
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Rena... OMIM:210710
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Sacral dimple, Finger syndactyly, Hypospadias, Broad ha... ORPHA:2211
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo... ORPHA:73230
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Bifid scrotum, Hallux valgus, Thumb contracture, Small scrotum, Tapered finger, Duplication of di... ORPHA:324540
8P Inverted Duplication/Deletion Syndrome
Short neck, Precocious puberty, Cryptorchidism, Pectus excavatum, High, narrow palate, Long finge... ORPHA:96092
Noonan Syndrome 8
Cryptorchidism, Abnormal sternum morphology, Short neck OMIM:615355
Elsahy-Waters Syndrome
Bifid scrotum, Anal stenosis, Brachydactyly, Hypospadias, Bilateral cryptorchidism, Pectus excava... OMIM:211380
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Short neck, Micrognathia, Cryptorchidism, Pancreatic lymphangiectasis, Postaxial... OMIM:235255
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, C... ORPHA:1507
Lymphatic Filariasis
Ankle swelling, Orchitis, Epididymitis, Knee osteoarthritis, Vaginal hydrocele, Hydrocele testis,... ORPHA:2035
Hydrolethalus
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate... ORPHA:2189
Buratti-Harel Syndrome
Hypospadias, Broad hallux, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard pal... OMIM:619314
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Sandal gap, Tapered finger, ... ORPHA:193
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Osteopenia, Cardiomegaly OMIM:269920
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Short neck, Tapered finger, Crypt... ORPHA:251071
20Q13.33 Microdeletion Syndrome
Hallux valgus, Sacral dimple, Hypospadias, Decreased scrotal rugation, Tapered finger, Abnormal l... ORPHA:261311
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Microcephaly-Micromelia Syndrome
Craniosynostosis, Missing ribs, Short neck, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Emanuel Syndrome
Sacral dimple, Inguinal hernia, Congenital hip dislocation, Intestinal malrotation, Micrognathia,... OMIM:609029
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... OMIM:300232
Noonan Syndrome 14
Scapular winging, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, High, narrow palate, Pe... OMIM:619745
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosi... ORPHA:794
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
3Mc Syndrome 2
Hypospadias, Limited elbow movement, Craniosynostosis, Cryptorchidism, Hip dislocation, Cleft pal... OMIM:265050
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Micrognathia, Metaphyseal widening, Abnormal finger morphology, Pectus carinat... ORPHA:536471
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Short neck, Micromelia, High, narrow palate, Micrognathia, Renal cys... OMIM:122470
Grant Syndrome
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelv... ORPHA:2097
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Kyphoscoliosis, Short neck, Pectus excavatum, Cryptorchi... OMIM:309583
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Epispadias, High, narrow palate, Hemiv... ORPHA:3107
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Rectourethral fistula, Epispadias, Coronal hypospadia... ORPHA:237
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Finger syndactyly, Brachydactyly, Pectus excavatum, Cryptorchidism, Short toe, Shawl... ORPHA:1519
Distal Duplication 17Q
Hallux valgus, Arachnodactyly, Overlapping toe, Rhizomelia, Micrognathia, Cryptorchidism, Cleft p... ORPHA:3379
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Hashimoto thyroiditis, Hydrocele testis, Retrograde ejaculation, Impotence, Rheuma... ORPHA:49041
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, 11 pairs of ribs, Micromelia, Short neck, Abnormal circulating calcium-phosph... ORPHA:50810
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Cryptorchidism, Abnormal ster... OMIM:610733
Mckusick-Kaufman Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsal synostosis, Crypto... ORPHA:2473
Peroxisome Biogenesis Disorder 2A (Zellweger)
Micrognathia, Metatarsus adductus, Cryptorchidism, Optic nerve dysplasia, Cleft palate, Hypoplasi... OMIM:214110
Toluene Embryopathy
Cryptorchidism, Micrognathia, Tapered finger ORPHA:1920
Melnick-Needles Syndrome
Omphalocele, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Micrognathia, ... ORPHA:2484
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Diabetes mellitus, Optic atrophy OMIM:249270
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... OMIM:259440
Noonan Syndrome 9
Cryptorchidism, Short neck OMIM:616559
Smith-Kingsmore Syndrome
Rhizomelia, Short proximal phalanx of finger, Cryptorchidism, Thoracic hypoplasia, Short distal p... OMIM:616638
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Kyphosis, Small hand, Short foot, Hip dysplasia, Hypogonadism, Scoliosis, Micropenis ORPHA:500055
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Optic nerve hypoplasia, Rocker bottom foot, Coxa valga, Craniosynostosis, Cryptorchi... OMIM:301056
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Unilateral cryptorchidism, Cleft palate, Micrognathia OMIM:300946
Pitt-Hopkins Syndrome
Sacral dimple, Short fourth metatarsal, Overlapping toe, Short fifth metatarsal, Supernumerary ni... OMIM:610954
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, High palate, Triphalangeal t... OMIM:201170
Hajdu-Cheney Syndrome
Short neck, Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Dislocated radial head... OMIM:102500
Tarp Syndrome
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Cry... ORPHA:2886
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Cryptorchidism, Protein-losing enteropathy, Camptodactyly, Decreased circulating T4 c... OMIM:608104
Lig4 Syndrome
Cryptorchidism, Type II diabetes mellitus, Clinodactyly of the 5th finger, Micropenis, Hypothyroi... OMIM:606593
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Brachydactyly, Micrognathia, Pectus excavatum, Cryptorchidism, Cubitus valgus, Furrowed tongue, S... OMIM:300534
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Kyphosis, Pectus excavatum, Abnormal form of the verte... ORPHA:3042
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria OMIM:252920
Chromosome 1P35 Deletion Syndrome
Micrognathia, Cryptorchidism, Increased femoral anteversion, Congenital hypothyroidism, Hip dyspl... OMIM:617930
X-Linked Intellectual Disability Due To Gria3 Mutations
Genu recurvatum, Cryptorchidism, Kyphosis, Narrow palate, Scoliosis, Micropenis ORPHA:364028
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Sclerosteosis 1
Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Optic atrophy, Irregu... OMIM:269500
Baraitser-Winter Syndrome 1
Cryptorchidism, Micropenis, Duplication of phalanx of hallux, Short neck OMIM:243310
Beta-Ureidopropionase Deficiency
Bifid scrotum, Anal atresia, Bladder exstrophy, Scoliosis OMIM:613161
Carpenter Syndrome 2
Short neck, Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Pectu... OMIM:614976
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Cerebellofaciodental Syndrome
Tapered finger, Short neck, Cryptorchidism, Shortening of all distal phalanges of the fingers, Ge... OMIM:616202
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, External genital hypoplasia, Short n... ORPHA:251028
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cuta... OMIM:270400
Severe Congenital Nemaline Myopathy
Hypospadias, Facial palsy, Abnormal thorax morphology, Thin ribs, Facial diplegia, Micropenis, Ad... ORPHA:171430
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Ankle clonus, Scoliosis, ... ORPHA:565624
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Cystic Fibrosis
Absent vas deferens ORPHA:586
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... OMIM:253000
3Mc Syndrome
Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Craniosynostosis, Hip dislocation,... ORPHA:293843
Lig4 Syndrome
Hypoplasia of penis, Micrognathia, Malabsorption, Cryptorchidism, Type II diabetes mellitus, Clin... ORPHA:99812
Dowling-Degos Disease
Arthritis, Scrotal hyperpigmentation, Penile freckling ORPHA:79145
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Hypospadias, Camptodactyly of finger ORPHA:1194
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Lateral Meningocele Syndrome
Vertebral fusion, Inguinal hernia, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, Microg... OMIM:130720
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Short neck, Micrognathia, Crypto... ORPHA:284160
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se... ORPHA:90652
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... OMIM:101200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Multicystic kidney dysplasia, Optic nerve dysplasia, Micropenis, Decreased test... OMIM:615287
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Inguinal hernia, Short metacarpal, Craniosynostosis, Micrognathia, Abnormality of ... ORPHA:166035
Campomelia, Cumming Type
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Bowing of the long bones, Micromelia... ORPHA:1318
Schwartz-Jampel Syndrome
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion con... ORPHA:800
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Inguinal hernia, Sandal gap, Supernumerary nipple, Pectus excavatum, Cryptor... ORPHA:1812
Achondrogenesis Type 1B
Micromelia, Short neck, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Narrow c... ORPHA:93298
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Syndactyly, Sacral dimple, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Clino... OMIM:616894
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Inguinal hernia, Recurrent joint dislocation, Cervical kyphosis, Kyphoscoliosi... ORPHA:2953
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, High p... ORPHA:2180
Developmental And Epileptic Encephalopathy 66
Clinodactyly of the 5th finger, Cryptorchidism OMIM:618067
Congenital Disorder Of Glycosylation, Type Ij
Clinodactyly of the 5th finger, Cryptorchidism, Micrognathia OMIM:608093
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Pectus excavatum, Optic disc colob... OMIM:300472
Orofaciodigital Syndrome V
Aganglionic megacolon, Unilateral cryptorchidism, Hamartoma of tongue, Sandal gap, Postaxial poly... OMIM:174300
Meier-Gorlin Syndrome 7
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Micropeni... OMIM:617063
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hypospadias, Pyloric stenosis OMIM:218350
9Q33.3Q34.11 Microdeletion Syndrome
Prominent metopic ridge, Small scrotum, Short neck, Cryptorchidism, Patellar aplasia, Patellar hy... ORPHA:495818
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Short neck, Micrognathia, Cryptorchidism, Cleft palate, High palate... OMIM:614230
Wiedemann-Steiner Syndrome
Sacral dimple, Tapered finger, Micrognathia, Cryptorchidism, Short toe, Contracture of the distal... OMIM:605130
Steinfeld Syndrome
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypopl... OMIM:184705
Macs Syndrome
Hypergonadotropic hypogonadism, Micrognathia, Pectus excavatum, Cryptorchidism, High palate, Scol... OMIM:613075
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Cryptorchidism, Kyphosis... ORPHA:3063
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Thickened cortex of lo... OMIM:253250
Tatton-Brown-Rahman Syndrome
Kyphoscoliosis, Cryptorchidism, Short toe, Widely spaced toes, Neuroendocrine neoplasm ORPHA:404443
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Short neck, Cryptorchidism, Macroglossia, High palate, Camptodactyly, Clinodactyly ORPHA:369891
Opitz-Kaveggia Syndrome
Short neck, Micrognathia, Anteriorly placed anus, Prominent fingertip pads, Syndactyly, Lumbar hy... OMIM:305450
Hatipoglu Immunodeficiency Syndrome
Cryptorchidism, Inguinal hernia, Hypospadias, Hemivertebrae OMIM:620331
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial foot polydactyly, High ... ORPHA:139471
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Syndactyly, Pectus excavatum, Cryptorchidism, Hypoplastic nipples, Clinodactyly of the 5th finger... OMIM:618505
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Malabsorption, Micrognathia, Cryptorchidism, Pyloric s... ORPHA:912
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fingers, High palate ORPHA:3304
Craniolenticulosutural Dysplasia
Delayed closure of the anterior fontanelle, Cryptorchidism, Posterior wedging of vertebral bodies... OMIM:607812
Cog5-Cdg
Camptodactyly of finger, Short neck, Cryptorchidism, Genu valgum, Finger clinodactyly, High palat... ORPHA:263487
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Cryptorchidism, Kyphosis, Hip ... ORPHA:261250
Takenouchi-Kosaki Syndrome
Inguinal hernia, Hypospadias, Overlapping toe, Proximal placement of thumb, Tapered finger, Crypt... OMIM:616737
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Overlapping toe, Craniosynostosis, Optic atrophy, Narrow palate, Hypo... OMIM:123790
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Micropenis, Small scrotum, Microphallus OMIM:300486
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... ORPHA:2008
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, High palate, Decreased response to growth hormone stimulation test, Micrognathia OMIM:609757
Lethal Congenital Contracture Syndrome Type 1
Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the... ORPHA:1486
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath... ORPHA:783
Distal Duplication 5Q
Hypoplasia of the ulna, Hypospadias, Craniosynostosis, Absent thumb, Micrognathia, Cryptorchidism... ORPHA:96097
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Renal cyst, Anteriorly placed anus, Glossoptosis, High ... OMIM:117650
Pontocerebellar Hypoplasia, Type 7
Micrognathia, Cryptorchidism, Optic atrophy, Pectus carinatum, High palate, Ambiguous genitalia, ... OMIM:614969
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Hypospadias, Cryptorchidism, Intestinal polyp, Thoracic hypoplasia ORPHA:457485
Ochoa Syndrome
Cryptorchidism ORPHA:2704
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... ORPHA:2769
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Intestinal malrotation, Craniosynostosis, Cryptorchidism, Optic atrophy, Cleft... ORPHA:457193
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Craniosynostosis, Tapered finger, Micrognathia, Cryptorchidism, Small hand, Hip... OMIM:620005
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Hypospadias, Supernumerary nipple, Proximal placement of thumb, Glandular hypospadias, Narrow pal... OMIM:604314
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Inguinal hernia, Tapered toe, Tapered finger, Bilateral cryptorchidism, Celiac dis... ORPHA:544488
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Mult... OMIM:107480
Monosomy 9P
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Cryptorchi... ORPHA:261112
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Catel-Manzke Syndrome
Joint dislocation, Short neck, Micrognathia, Pectus carinatum, Glossoptosis, High palate, Clinoda... OMIM:616145
Cockayne Syndrome Type 2
Male hypogonadism, Kyphosis, Scoliosis, Cryptorchidism ORPHA:90322
Craniofacioskeletal Syndrome
Barrel-shaped chest, Absent gallbladder, Hypospadias, Micrognathia, Cryptorchidism, Hypoplastic f... OMIM:300712
Spondyloocular Syndrome
Long toe, Unilateral cryptorchidism, Duodenal ulcer, Arachnodactyly, Femur fracture, Overlapping ... OMIM:605822
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism OMIM:620012
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Septo-optic dysplasia, Optic nerve hypoplasia, Anterior pituitary hypoplasia... ORPHA:3157
Developmental And Epileptic Encephalopathy 95
Inguinal hernia, Short fourth metatarsal, Brachydactyly, Cryptorchidism, Pectus carinatum, Macrog... OMIM:618143
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Postaxial polydactyly OMIM:615824
Bartsocas-Papas Syndrome 1
Short neck, Bilateral cryptorchidism, Micrognathia, Hypoplastic iliac wing, Micropenis, Pterygium... OMIM:263650
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Crypto... OMIM:236700
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, High, n... ORPHA:3258
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Primary amenorrhea... OMIM:157640
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Intestinal m... ORPHA:3035
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Supernumerary nipple, Tapered finger, Cryptorchidism, Short thumb, Chordee, Clinodactyly of the 5... OMIM:616728
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral segme... ORPHA:373
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... OMIM:602196
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Finger syndactyly, Small scrotum, Toe syndactyly, Anterior pituitary hypopla... ORPHA:264200
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism, Elevated circ... OMIM:242900
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology, Anal atresia ORPHA:195
Distal Deletion 3P
Sacral dimple, Inguinal hernia, Short neck, Micrognathia, Cryptorchidism, Postaxial hand polydact... ORPHA:1620
Reni Syndrome
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Hypothyroidism OMIM:617575
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Noonan Syndrome With Multiple Lentigines
Scapular winging, Hypospadias, Pectus excavatum, Cryptorchidism, Decreased fertility, Pectus cari... ORPHA:500
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s... ORPHA:96182
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Submucous cleft hard palate, Hypergonadotropic hypogonadism, Cleft palate ORPHA:250999
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyopathy OMIM:256550
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Trisomy 18
Omphalocele, Microretrognathia, Camptodactyly of finger, Cryptorchidism, Esophageal atresia, Post... ORPHA:3380
Schuurs-Hoeijmakers Syndrome
Cryptorchidism, Volvulus OMIM:615009
Ring Chromosome 13 Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the thumb, Hypoplasia of the gallbladder, Hypospadias, Parti... ORPHA:96176
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Bi... OMIM:617746
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Syndactyly, Streak ovary, Hypospadias, Jejunal atresia, Kyphoscoliosis, Ileal atresi... OMIM:618820
Say-Barber-Miller Syndrome
Thoracic kyphoscoliosis, Craniosynostosis, Micrognathia, Cryptorchidism, Optic atrophy, Hip dislo... ORPHA:3132
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Cryptorchidism, Short foot, Hand polydacty... ORPHA:250989
Fanconi Anemia, Complementation Group F
Sacral dimple, Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidis... OMIM:603467
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... ORPHA:235
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Cryptorchidism, Sprengel anomaly, High palate, Micropenis OMIM:618929
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Small scrotum, Supernumerary nipple, Micrognathia, Cryptorchidism, ... OMIM:618454
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, High, narrow palate, ... ORPHA:1101
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Hamamy Syndrome
Hypoparathyroidism, Syndactyly, Inguinal hernia, Long toe, Down-sloping shoulders, Craniosynostos... OMIM:611174
Pseudoaminopterin Syndrome
Limited elbow movement, Micrognathia, High palate, Synostosis of carpal bones, Sagittal craniosyn... ORPHA:221120
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Small scrotum, Toe syndactyly, Hyperlordosis, Micrognathia, Bilateral cleft li... ORPHA:3253
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Renal cyst, Bell-shaped thorax, Short ribs OMIM:615636
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Small scrotum, Cleft palate ORPHA:2728
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Sacral dimple, Rhizomelia, Decreased response to growth hormone s... ORPHA:319182
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Sho... ORPHA:582
X-Linked Mandibulofacial Dysostosis
Pectus excavatum, Cryptorchidism, High palate, Micrognathia ORPHA:1131
Fanconi Anemia, Complementation Group P
Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius OMIM:613951
Autosomal Recessive Spastic Paraplegia Type 77
Bilateral cryptorchidism, Hip dysplasia, Kyphoscoliosis ORPHA:466722
Ellis Van Creveld Syndrome
Hypospadias, Micromelia, Epispadias, Cryptorchidism, Short thorax, Capitate-hamate fusion, Genu v... ORPHA:289
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, High palate, Kyphosis OMIM:619244
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Cryptorchidism, Kypho... OMIM:610443
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Hypospadias, Arachnodacty... ORPHA:280
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Hallermann-Streiff Syndrome
Hyperlordosis, Pectus excavatum, Cryptorchidism, High, narrow palate, Optic disc coloboma, Metaph... OMIM:234100
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Micropenis OMIM:610125
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, Cryptorchidism, 2-3 toe cutaneous syndactyly, Short foot, High palate, Clinodactyly ... OMIM:300260
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the ... ORPHA:818
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Clinodactyly of the 5th finger, Hypothyroidism, Bifid uvula, Abnormality of the anus... OMIM:607872
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Inguinal hernia, Anal stenosis, Hypospadias OMIM:601499
Chromosome 18Q Deletion Syndrome
Inguinal hernia, Toe syndactyly, Hypospadias, Decreased response to growth hormone stimulation te... OMIM:601808
Noonan Syndrome 1
Male infertility, Pectus excavatum of inferior sternum, Hypospadias, Kyphoscoliosis, Short neck, ... OMIM:163950
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Short neck, Pectus excavatum, Cryptorchidism, Long fingers, Cleft palate OMIM:614294
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Thin ribs, Bell-shaped thorax, Tibial bowing,... OMIM:166210
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Optic disc pallor, Inguinal hernia, Rocker bottom foot, Kyphoscoliosis, Short n... OMIM:618947
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal rib morpholog... ORPHA:2145
Nablus Mask-Like Facial Syndrome
Sandal gap, Short hallux, Short neck, Tapered finger, Cryptorchidism, Clinodactyly, Craniosynosto... OMIM:608156
Bachmann-Bupp Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, High palate OMIM:619075
Cleidocranial Dysplasia
Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior il... ORPHA:1452
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Thyroid lymphangiectasia, Pectus excavatum, Cryptorchidism, Rectal prolapse, Small ha... OMIM:235510
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening... OMIM:602535
Omodysplasia 1
Short humerus, Increased fibular diameter, Rhizomelia, Short neck, Limited knee flexion, Cryptorc... OMIM:258315
Rubinstein-Taybi Syndrome 1
Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Papillary cysta... OMIM:180849
Orofacial Cleft 15
Cryptorchidism OMIM:616788
Native American Myopathy
Micrognathia, Cryptorchidism, Cleft palate, Abnormal curvature of the vertebral column, High pala... ORPHA:168572
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Hypospadias, Ankle flexion contracture, Tapered finger, Pectus excavatum, Cryp... ORPHA:464311
Bardet-Biedl Syndrome 20
Papilledema, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe... OMIM:619471
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Sacral dimple, Inguinal hernia, Micrognathia, Cryptorchidism, Cleft palate, Polydact... OMIM:247200
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Pectus excavatum, Cryptorchidism, ... OMIM:617137
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Sh... OMIM:227650
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, High palate, Shawl scrotum, ... ORPHA:1974
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Hemivertebrae, Gonadotropin deficiency, Micropenis, Bifid uvul... ORPHA:672
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Short neck, Pectus excavatum, Cryptorchidism, Tapered finger, Long fi... OMIM:616734
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Sp... OMIM:118100
Noonan Syndrome
Hypogonadotropic hypogonadism, Micrognathia, Pectus excavatum, Cryptorchidism, Pectus carinatum, ... ORPHA:648
Noonan Syndrome 2
Short neck, Pectus excavatum, Cryptorchidism, Micrognathia, Pectus carinatum, Shield chest, Abnor... OMIM:605275
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o... OMIM:239850
Aymé-Gripp Syndrome
Inguinal hernia, Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered finger, C... ORPHA:1272
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Micrognathia, Cryptorchidism, Kyphosis, Increased femoral anteversion, High palate, Scoliosis, Mi... OMIM:619005
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Abnormal rib morphology, Small hand, Short foot, Micropenis, Spina bifida occulta, Th... ORPHA:488434
Kleefstra Syndrome 1
Hypospadias, Protruding tongue, Cryptorchidism, Macroglossia, Micropenis, Brachydactyly OMIM:610253
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Hypospadias, Rocker bottom foot, Adrenal hypoplasia, Protruding tongue, Metata... OMIM:214100
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Tapered finger, Short neck, Cryptorchidism, High palate OMIM:615803
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, 2-3 toe s... OMIM:618653
Gracile Bone Dysplasia
Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Ankyloglossia, Brachydactyly OMIM:602361
Genitopatellar Syndrome
Small scrotum, Congenital hip dislocation, Micrognathia, Knee flexion contracture, Anteriorly pla... OMIM:606170
Costello Syndrome
Short neck, Cryptorchidism, Narrow palate, Ulnar deviation of finger, Macroglossia ORPHA:3071
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Optic disc pallor, Toe syndactyly, Hypospadias, Anterior pituitary hypoplasia, Ara... ORPHA:464306
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Long clavicles, Arachnodactyly, Overlapping toe, Micrognathia, Biliary hyperplas... ORPHA:83617
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Prominent metopic ridge, Unilateral cryptorchidism, Anterior pituitary hypoplasi... OMIM:613457
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Microg... ORPHA:2166
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Fanconi Anemia
Micrognathia, Abnormal femur morphology, High palate, Abnormality of the uterus, Triphalangeal th... ORPHA:84
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, ... ORPHA:401973
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy OMIM:212140
Robinow Syndrome, Autosomal Dominant 1
Short neck, Micrognathia, Clitoral hypoplasia, High palate, Short palm, Micropenis, Duplication o... OMIM:180700
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing... ORPHA:3186
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... ORPHA:175
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Short neck, Hiatus hernia, Cryptorchidism, Tapered f... ORPHA:2896
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, 2-3 toe syndact... OMIM:618280
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Preaxial foot polydactyly, Hy... ORPHA:1827
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Carey-Fineman-Ziter Syndrome 1
Facial palsy, Spinal rigidity, Tapered finger, Cryptorchidism, Micrognathia, Cleft palate, Glosso... OMIM:254940
Au-Kline Syndrome
Sacral dimple, Prominent metopic ridge, Overlapping toe, Thoracolumbar scoliosis, Supernumerary n... OMIM:616580
Chromosome 17Q12 Deletion Syndrome
Short palm, Long toe, Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Long fingers, U... OMIM:614527
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Toe syndactyly, Proximal placement of thumb, Short neck, Limited elbow movement, Cryptorchidism, ... OMIM:610759
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Intestinal malrotation, Cryptorchidism, Genu valgum, Micropenis, Duodenal atresia OMIM:617798
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma, Hemiatrophy, Scoliosis ORPHA:2874
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Noonan Syndrome 10
Short neck, Pectus excavatum, Cryptorchidism, Pectus carinatum, High palate, Scoliosis, Cubitus v... OMIM:616564
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Hamarto... OMIM:277170
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Inguinal hernia, Short femur, Bowing of the long bone... OMIM:613848
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Vertebral clefting, Hemiver... ORPHA:2322
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Cryptorchidism OMIM:620365
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Optic atrophy OMIM:300578
Neurofaciodigitorenal Syndrome
Abnormal distal phalanx morphology of finger, Pectus excavatum, Cryptorchidism, Abnormality of th... ORPHA:2673
Pudendal Neuralgia
Back pain, Dyspareunia, Anal canal adenocarcinoma, Impotence, Scrotal pain ORPHA:60039
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Optic atrophy, Cleft palate, Me... ORPHA:899
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Anterio... OMIM:227645
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Toriello-Carey Syndrome
Aganglionic megacolon, Short neck, Micrognathia, Cryptorchidism, Cleft palate, Anteriorly placed ... ORPHA:3338
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Cryptorchidism, Male pseudoherma... ORPHA:847
Lesch-Nyhan Syndrome
Testicular atrophy, Podagra, Hip dislocation OMIM:300322
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Intest... ORPHA:93941
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Supernumerary nipple, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, Su... OMIM:619194
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Diabetes mellitus, Proximal placement of ... OMIM:616263
C Syndrome
Omphalocele, Joint dislocation, Sacral dimple, Multicystic kidney dysplasia, Toe syndactyly, Micr... ORPHA:1308
Fraser Syndrome
Omphalocele, Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidn... ORPHA:2052
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnormal finger mo... ORPHA:2636
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... OMIM:616229
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Broad hallux, Sandal gap, Hyperlordosis, Cryptorchidism, Narrow palate, Hip... OMIM:616078
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Midgut malrotation, Cleft palate, Delaye... ORPHA:2326
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Mend Syndrome
Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Cryptorchidism, Ky... OMIM:300960
Dextrocardia
Congenital hip dislocation, Intestinal malrotation, Abnormal reproductive system morphology, Abno... ORPHA:1666
Cutis Laxa, Autosomal Recessive, Type Iiib
Inguinal hernia, Cryptorchidism, Pyloric stenosis, Elbow flexion contracture, Hip dislocation OMIM:614438
7Q11.23 Microduplication Syndrome
Sacral dimple, Inguinal hernia, Hypospadias, Craniosynostosis, Short neck, Pectus excavatum, Cryp... ORPHA:96121
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Cleft palate, Metatarsus valgus ORPHA:261236
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Micropenis OMIM:619847
De Barsy Syndrome
Inguinal hernia, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of the anterior font... ORPHA:2962
Fetal Akinesia Deformation Sequence 1
Hip contracture, Rocker bottom foot, Camptodactyly of finger, Short neck, Micrognathia, Cryptorch... OMIM:208150
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorc... OMIM:603457
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Inguinal hernia, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Shor... OMIM:613458
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Inguinal hernia, External genital hypoplasia, Cryptorchidism, Submucous clef... ORPHA:2250
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... OMIM:619698
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Vertebral fusion, Hypospadias, Pseudoepiphys... OMIM:194190
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Tapered finger, Short neck, Cryptorchidism, Micrognathia, Slender long bone, Sco... ORPHA:444072
Neurofibromatosis-Noonan Syndrome
Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Cryptorchidism, Scoliosis, Cu... OMIM:601321
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Intestinal obstruction, Primary testicular failure, Intestinal perforation, Oli... ORPHA:85450
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Cryptorchidism, Short toe, 2-3 toe syndactyly, Cle... OMIM:139210
Hypophosphatasia
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap... ORPHA:436
Sotos Syndrome
Cryptorchidism, High, narrow palate, Long metacarpals, Narrow palate, Genu valgum, Long phalanx o... OMIM:117550
Alkuraya-Kucinskas Syndrome
Small scrotum, Overlapping toe, Micrognathia, Micropenis, Cutaneous syndactyly, High palate, Camp... OMIM:617822
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Micrognathia, Kyphosis, Abnormal rib morphology, A... ORPHA:2050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Prominent metopic ridge, Craniosynostosis, Cryptorchidism, Cleft palate, Furrowed tongue, Macrogl... ORPHA:453499
Lethal Congenital Contracture Syndrome 10
Omphalocele, Thoracic scoliosis, Overlapping fingers, Short neck, Micrognathia, Narrow palate, Fe... OMIM:617022
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Chops Syndrome
Cryptorchidism, High, narrow palate, Optic atrophy, Cervical C2/C3 vertebral fusion, Brachydactyly OMIM:616368
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Cryptorchidism, Micropenis, Limb undergrowth, Clinodactyly, H... OMIM:616541
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Bilateral cryptorchidism, C... ORPHA:2754
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Inguinal hernia, Protruding tongue, Cryptorchidism, Macroglossia, Abnormal t... ORPHA:96147
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Optic disc pallor, 2-5 finger syndactyly, Prominent metopic ridge, Hypospadias... ORPHA:468631
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... ORPHA:85167
Trisomy 8P
Short fourth metatarsal, Short neck, Aplasia/Hypoplasia of the gallbladder, Clinodactyly of the 5... ORPHA:264450
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Kyphoscoliosis, Micrognathia, Cryptorchidism, Short thumb, Small hand... OMIM:268400
Meier-Gorlin Syndrome 6
Microretrognathia, Sandal gap, Decreased response to growth hormone stimulation test, Cryptorchid... OMIM:616835
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Complet... OMIM:600901
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Hypospadias, Intestinal malrotation, Sandal gap, Pr... ORPHA:79324
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Optic atrophy, Perineal hypospadias, Hypothyroidism ORPHA:66634
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Doors Syndrome
11 pairs of ribs, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagitt... ORPHA:79500
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Acrocallosal Syndrome
High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Microretrognathia, Finger s... OMIM:200990
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... ORPHA:1120
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Unilateral cleft palate, Submucous cleft hard palate, Hypospadias OMIM:619103
Opitz Gbbb Syndrome
Inguinal hernia, Hypospadias, Rectourethral fistula, Cryptorchidism, Cleft palate, High palate, M... OMIM:300000
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Optic atrophy, Hyp... OMIM:614231
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o... OMIM:274000
Diamond-Blackfan Anemia 1
11 pairs of ribs, Short neck, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication of... OMIM:105650
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Short neck, Pectus excavatum, Cryptorchidism, Submucous cleft hard p... ORPHA:1340
Deeah Syndrome
Cervical hemivertebrae, Decreased response to growth hormone stimulation test, Anterior pituitary... OMIM:619004
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypospadias, Overlapping toe, Craniosynostosis, Tapered finger, Pectus excavatum, Cryptorchidism,... OMIM:309590
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Prominent metopic ridge, Broad hallux, Optic nerve hypoplasia, Postaxial polydac... ORPHA:457284
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Micrognathia, Cryptorchidism, Long fingers, High palate, Patellar disl... OMIM:617557
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Lumbar hyperlordosis, Hypospadias, Micrognathia, Cryptorchidism, Optic atrophy, Renal... OMIM:616975
Kleefstra Syndrome
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Renal c... ORPHA:261494
Bainbridge-Ropers Syndrome
Arachnodactyly, Intestinal malrotation, Supernumerary nipple, Micrognathia, Precocious puberty, C... OMIM:615485
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abn... ORPHA:2167
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism OMIM:613266
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Inguinal hernia, Short metacarpal, Delayed closure of th... OMIM:303600
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Radio-Renal Syndrome
Multicystic kidney dysplasia, Micromelia, Short neck, Micrognathia, High, narrow palate, Hypoplas... ORPHA:3015
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Scoli... OMIM:616682
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cryptorchidism, Optic atrophy, Scoliosis, Male hypogonadism,... ORPHA:90321
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Micro... OMIM:619879
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Short neck, Micrognathia, Ambiguous genitalia, f... OMIM:249000
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vert... ORPHA:3109
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Multicystic kidney dysplasia, Intestinal malrotation, Cryptorchidism, Microcolon ORPHA:2241
Congenital Myopathy 13
Kyphoscoliosis, Micrognathia, Cryptorchidism, Cleft palate, High palate, Scoliosis OMIM:255995
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Micrognathia, Cryptorchidism, Tracheoesophageal fistula, Clef... ORPHA:861
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Hypospadias, Micrognathia, Metatarsus adductus, Cryptorchidi... OMIM:614866
Chromosome 13Q14 Deletion Syndrome
Inguinal hernia, Overlapping toe, Supernumerary nipple, Micrognathia, Cryptorchidism, Hip disloca... OMIM:613884
Bloom Syndrome
Syndactyly, Decreased fertility in females, Cryptorchidism, Azoospermia, Hand polydactyly, Type I... OMIM:210900
Pallister-Killian Syndrome
Small scrotum, Congenital hip dislocation, Short neck, Micrognathia, Renal cyst, Anteriorly place... OMIM:601803
Charge Syndrome
External genital hypoplasia, Decreased response to growth hormone stimulation test, Micrognathia,... OMIM:214800
Barber-Say Syndrome
Breast aplasia, Hypoplastic nipples, Shawl scrotum ORPHA:1231
Acromelic Frontonasal Dysostosis
Syndactyly, Optic nerve hypoplasia, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydacty... OMIM:603671
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypospadias, Kyphoscoliosis, Short neck, Protruding tongue, Cryptorchidism, Clinod... OMIM:309580
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Meckel Syndrome
Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Aplasia/Hypoplasia of th... ORPHA:564
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism OMIM:620327
Distal Deletion 12Q
Short neck, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3r... ORPHA:96149
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Cryptorchidism, Inguinal hernia, Hypospadias OMIM:614052
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Premature ovarian insufficiency, Metaphyseal sclerosis, Cryptorchidism, Hypothy... ORPHA:221008
Monosomy 9Q22.3
Ovarian fibroma, Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of ... ORPHA:77301
Kabuki Syndrome 1
Joint dislocation, Anal stenosis, Congenital hip dislocation, Intestinal malrotation, Premature t... OMIM:147920
Dubowitz Syndrome
Syndactyly, Sacral dimple, Inguinal hernia, Hypospadias, Micrognathia, Cryptorchidism, Velopharyn... OMIM:223370
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom... ORPHA:163979
Dyskeratosis Congenita, Autosomal Dominant 3
Avascular necrosis of the capital femoral epiphysis, Cryptorchidism, Oral leukoplakia OMIM:613990
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micromelia, Micrognathia, High pala... ORPHA:199
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Craniofaciofrontodigital Syndrome
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:363705
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Supernumerary nipple, Tapered finger, Cryptorchidism, Short thumb, Chordee, Clinodac... ORPHA:477993
Distal 22Q11.2 Microduplication Syndrome
Sacral dimple, Toe syndactyly, Camptodactyly of finger, Tapered finger, Micrognathia, Cryptorchid... ORPHA:261337
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal thumb morphology, Cryptorchidism, Inguinal hernia, Arachnodactyly ORPHA:2719
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Optic atrophy, Bilateral coxa valga, Gonadal hypoplasia OMIM:278800
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:881
Diets-Jongmans Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Hip dysplasia, Duodenal atresia OMIM:618846
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Nicolaides-Baraitser Syndrome
Long toe, Hallux valgus, Inguinal hernia, Short metacarpal, Sandal gap, Enlarged joints, Broad 2n... OMIM:601358
Wrinkly Skin Syndrome
Microretrognathia, Scapular winging, Inguinal hernia, Congenital hip dislocation, Delayed closure... OMIM:278250
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Microretrognathia, Sacral dimple, Inguinal hernia, Hypospadias, Toe syndactyly, Tapered finger, C... ORPHA:459070
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cleft hard palate, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Micro... ORPHA:261537
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Esophageal atresia, ... OMIM:227646
Cutis Laxa, Autosomal Recessive, Type Iid
Inguinal hernia, Kyphoscoliosis, Bilateral cryptorchidism, Hip dislocation, Hip dysplasia, Campto... OMIM:617403
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Cleft palate,... ORPHA:83
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Inguinal hernia, Short neck, Cryptorchidism, Abnormal sternum morphology, High palate, Cubitus va... OMIM:607721
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Prominent metopic ridge, Congenital hip dislocation, Micrognathia, Cryptorchidism, Long fingers, ... OMIM:619512
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Abnormality of the elbow, Abno... ORPHA:93473
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Short neck, Pectus excavatum, Cryptorchidism, Finger joint hypermobility, Cubitus valgus OMIM:613563
Distal Deletion 15Q
Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Hypospadias, Microgna... ORPHA:1596
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Noonan Syndrome 3
Sagittal craniosynostosis, Pectus excavatum, Cryptorchidism, Pectus carinatum, Shield chest, High... OMIM:609942
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Cockayne Syndrome A
Hip contracture, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Crypto... OMIM:216400
Chilton-Okur-Chung Neurodevelopmental Syndrome
Septo-optic dysplasia, Short fifth metatarsal, Hypospadias, Anterior pituitary hypoplasia, Short ... OMIM:619841
Coffin-Siris Syndrome 1
Prominent interphalangeal joints, High palate, Prominent fingertip pads, Clinodactyly of the 5th ... OMIM:135900
Hartsfield Syndrome
Syndactyly, Hypospadias, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Cleft palate,... OMIM:615465
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
X-Linked Intellectual Disability, Armfield Type
Inguinal hernia, Micrognathia, Cryptorchidism, Abnormality of the elbow, Small hand, Cleft palate... ORPHA:85276
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Hypoplastic sacrum, Hypogonadotropic hypogonadism, Absence of Stensen duct, Decrea... OMIM:604292
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia, Craniosynostosis, Short neck, Pectus excavatum, Cryptorchidism, Pectus ca... OMIM:617506
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Inguinal hernia, Short metacarpal, Radial bowing, Femoral retroversion, Kyph... OMIM:610915
Cohen-Gibson Syndrome
Coxa valga, Long fingers, Cryptorchidism, Flared metaphysis, Scoliosis, Hypoplastic iliac wing, B... OMIM:617561
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Micrognathia, Cryptorchidism, Abnormal rib morphology, Azoospermia, Hyperald... ORPHA:534
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Aganglionic megacolon, Supernumerary nipple, Pectus excavatum, Crypto... OMIM:235730
Mowat-Wilson Syndrome
Bifid scrotum, Cleft hard palate, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Micro... ORPHA:2152
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Deviation of the hallux, Hamartoma of tongue, Short neck, Bilate... ORPHA:434179
Microphthalmia, Syndromic 9
Inguinal hernia, Micrognathia, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Faundes-Banka Syndrome
Premature thelarche, Micrognathia, Cryptorchidism, Cleft palate, Lumbar hemivertebrae, Delayed pu... OMIM:619376
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Decreased response to growth hormone stimulation test, Calcaneovalgus deformit... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Decreased response to growth hormone stimulation test, Calcaneovalgus deformit... ORPHA:363958
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Inguinal hernia, Perianal abscess, Cryptorchidism, Cleft palate, Pectus carinatum, High palate, H... OMIM:612541
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Prominent metopic ridge, Intestinal pseudo-obstruction, Optic n... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Prominent metopic ridge, Intestinal pseudo-obstruction, Optic n... ORPHA:352665
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bones of the upper limbs, Metap... ORPHA:221016
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, ... OMIM:157800
Holoprosencephaly
Omphalocele, Hypoplasia of penis, Median cleft lip and palate, Brachydactyly, Diabetes insipidus,... ORPHA:2162
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Renal Hypoplasia, Bilateral
Cryptorchidism, Renal cyst ORPHA:97362
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Xerostomia, Abnormal r... ORPHA:2907
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Occipital Horn Syndrome
Short humerus, Orthostatic hypotension, Persistent open anterior fontanelle, Pelvic bone exostose... OMIM:304150
Trichothiodystrophy
Joint dislocation, Craniosynostosis, Hypoplasia of mandible relative to maxilla, Cryptorchidism, ... ORPHA:33364
Bone Marrow Failure Syndrome 3
Metaphyseal dysplasia, Congenital hip dislocation, Micrognathia, Pancreatic steatosis, Cryptorchi... OMIM:617052
Microphthalmia, Syndromic 1
High, narrow palate, Rectal prolapse, High palate, Narrow chest, Prominent fingertip pads, Syndac... OMIM:309800
Vater/Vacterl Association
Syndactyly, Hypospadias, Absent radius, Esophageal atresia, Short thumb, Hypoplasia of the radius... OMIM:192350
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Barber-Say Syndrome
Absent nipple, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Velopharyngeal insufficien... OMIM:209885
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Microretrognathia, Arachnodactyly, Intestinal malrotation, Hiatus hernia, Pect... OMIM:601776
Coffin-Siris Syndrome 12
Hypospadias, Facial palsy, Micrognathia, Pectus excavatum, Cryptorchidism, Velopharyngeal insuffi... OMIM:619325
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Abno... ORPHA:1163
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Micrognathia, Precocious puberty, Cryptorchidism, L... ORPHA:96191
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Short neck, Absent thumb, Esophageal atresia, Absent radius, Micrognathia, Tr... OMIM:614083
Phosphoribosylpyrophosphate Synthetase Superactivity
Cryptorchidism, High palate, Hypospadias, Gout OMIM:300661
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Small scrotum, Female hypogonadism, Toe syndactyly, Adrenal... OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Optic atrophy, Cleft palate, Hypoplastic ma... OMIM:236670
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Cleft hard palate, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Micro... ORPHA:261552
Coffin-Siris Syndrome
Hypospadias, Cryptorchidism, Short 5th finger, Papillary thyroid carcinoma, Scoliosis, Clinodactyly ORPHA:1465
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula, Metopic synostosis OMIM:618748
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Osteoporosis, Cardiomegaly ORPHA:1517
Peters Plus Syndrome
Micromelia, Short neck, Micrognathia, Clitoral hypoplasia, Clinodactyly of the 5th finger, Spina ... ORPHA:709
Fraser Syndrome 1
Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Hypospadias, Aplasia/Hypopl... OMIM:219000
Peters-Plus Syndrome
Hypoplasia of the vagina, Bilobate gallbladder, Proximal placement of thumb, Short neck, Limited ... OMIM:261540
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Short neck, Bifid u... OMIM:256520
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Velocardiofacial Syndrome
Hypoparathyroidism, Inguinal hernia, Cryptorchidism, Velopharyngeal insufficiency, Submucous clef... OMIM:192430
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Scapular winging, Inguinal hernia, Syndactyly, Thoracolumbar scoliosis, Short ... OMIM:150230
Encephalocraniocutaneous Lipomatosis
Cryptorchidism OMIM:613001
Beckwith-Wiedemann Syndrome
Omphalocele, Overgrowth of external genitalia, Prominent metopic ridge, Adrenocortical cytomegaly... OMIM:130650
X-Linked Intellectual Disability, Nascimento Type
Overlapping toe, Hypospadias, Lower extremity joint dislocation, Cryptorchidism, Clubbing of toes... ORPHA:163956
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri... OMIM:268300
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Micrognathia, Esophageal ne... ORPHA:125
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... OMIM:216340
22Q11.2 Deletion Syndrome
Short neck, Micrognathia, Hypoplasia of the thymus, Abnormality of the uterus, Hypothyroidism, Hy... ORPHA:567
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta, Anal atresia OMIM:617466
Wrinkly Skin Syndrome
Inguinal hernia, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of the anterior font... ORPHA:2834
Osteogenesis Imperfecta
Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis, Abnormal ... ORPHA:666
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Micrognathia, Short toe, Cutaneous syndactyly OMIM:617667
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... ORPHA:2363
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Back pain, Hypospadias, Kyphosis, High, narrow palate, Short uvula, Abnormal curva... OMIM:619475
Diarrhea 10, Protein-Losing Enteropathy Type
Micrognathia, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Pro... OMIM:618183
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Helsmoortel-Van Der Aa Syndrome
Sandal gap, Decreased response to growth hormone stimulation test, Facial palsy, Hyperlordosis, P... OMIM:615873
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Cryptorchidism, Kyphosi... OMIM:133540
Fontaine Progeroid Syndrome
Syndactyly, Small scrotum, Absent nipple, Craniosynostosis, Protruding tongue, Micrognathia, Cryp... OMIM:612289
Perlman Syndrome
Distal ileal atresia, Micrognathia, Cryptorchidism, Pancreatic islet-cell hyperplasia, Volvulus OMIM:267000
Ctcf-Related Neurodevelopmental Disorder
Broad hallux phalanx, Sacral dimple, Inguinal hernia, Sandal gap, Craniosynostosis, Phimosis, Cry... ORPHA:363611
Holoprosencephaly 9
Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth hormone stimu... OMIM:610829
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Inguinal hernia, Toe syndactyly, Hypogonadotropic hypogonadism, Absence of Stensen duct, Decrease... OMIM:129900
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Phimosis, Esophageal stricture, Abnormal rib morpholo... ORPHA:2908
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Hypospadias, Tapered finger, Cryptorchidism, Short thumb, Hydrocele testis, Short foot... OMIM:619522
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Kyphoscoliosis, Cryptorchidism, Kyphosis, High, narrow palate, Pineal cyst, Scolio... OMIM:300967
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Limb-Mammary Syndrome
Syndactyly, Absent nipple, Toe syndactyly, Cleft hard palate, 3-4 finger cutaneous syndactyly, Pr... ORPHA:69085
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism OMIM:613834
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, C... OMIM:308205
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Camptodactyly of finger, Micrognathia, Thyroid agenesis, ... ORPHA:3047
Loeys-Dietz Syndrome
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Pectu... ORPHA:60030
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Craniosy... ORPHA:1521
Adnp Syndrome
Inguinal hernia, Broad hallux, Sandal gap, Abnormal toe morphology, Cryptorchidism, Abnormal fing... ORPHA:404448
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Kyphosis, Abnormality of the endocrine system, Genu valgum, S... ORPHA:636
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Cryptorchidism, Kyphosis, Hip dislocation, Genu valgum, ... OMIM:309000
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cryptorchidism, Metopic synostosis OMIM:620024
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Menke-Hennekam Syndrome 1
Inguinal hernia, Broad hallux, Overlapping toe, Sandal gap, Micrognathia, Cryptorchidism, Cleft p... OMIM:618332
Cutis Laxa, Autosomal Recessive, Type Iic
Overlapping toe, Kyphoscoliosis, Bilateral cryptorchidism, Pyloric stenosis, Knee flexion contrac... OMIM:617402
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Primrose Syndrome
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cry... OMIM:259050
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Hypospadias, Delayed closure of the anterior fontanelle, Sh... OMIM:264090
Neurooculorenal Syndrome
Ectopic posterior pituitary, Decreased circulating cortisol level, Intestinal malrotation, Short ... OMIM:620305
Ogden Syndrome
Congenital hip dislocation, Maternal diabetes, Short neck, Micrognathia, High palate, Clinodactyl... OMIM:300855
Xeroderma Pigmentosum
Cryptorchidism, Optic atrophy, Hypogonadism, Pterygium, Decreased testicular size ORPHA:910
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Cardiomegaly ORPHA:2463
Microphthalmia, Syndromic 2
Hypospadias, Broad hallux, Septate vagina, Sandal gap, Cryptorchidism, 2-3 toe cutaneous syndacty... OMIM:300166
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Aganglionic megacolon, Camptodacty... ORPHA:2273
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Absent frontal sinuses OMIM:244400
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Ehlers-Danlos Syndrome, Vascular Type
Inguinal hernia, Pectus excavatum, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insuf... OMIM:130050
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Branchiooculofacial Syndrome
Hypospadias, Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kypho... OMIM:113620
Dyskeratosis Congenita, X-Linked
Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Optic atrophy, Oral leukoplakia, Pte... OMIM:305000
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Anterior pituitary hypoplasia, Supernumerary nipple, Kyphoscoliosis, Bilateral cry... ORPHA:466791
Hypotonia, Ataxia, And Delayed Development Syndrome
Cryptorchidism, Micropenis, Tapered finger OMIM:617330
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Decreased response to growth hormone stimulation test, Craniosynostosi... ORPHA:506358
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Metaphyseal widening, Genu valgum, Primary hypothyroidism, D... OMIM:219800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ambiguous genitalia, Cryptorchidism, Micropenis OMIM:617641
Degcags Syndrome
Syndactyly, Sacral dimple, Toe syndactyly, Hypospadias, Jejunal atresia, Craniosynostosis, Hiatus... OMIM:619488
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:603903
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Adrenal insufficiency OMIM:307030
Williams Syndrome
Hypoplasia of penis, Micrognathia, Rectal prolapse, Abnormal form of the vertebral bodies, Verteb... ORPHA:904
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly OMIM:608836
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic vertebral bodies, ... ORPHA:3455
Sotos Syndrome
Sacrococcygeal teratoma, Inguinal hernia, Hip contracture, Hypospadias, Aganglionic megacolon, An... ORPHA:821
Penile Agenesis
Maternal diabetes, Rectal fistula, Cryptorchidism, Tracheoesophageal fistula, Absent penis, Ambig... ORPHA:49
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:614921
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Abnormal parotid gland morphology OMIM:154500
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Intestinal malrotation, Broad hallux, Avascular necrosis of the capital femoral epip... ORPHA:353281
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... OMIM:619503
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Inguinal hernia, Malabsorption, Avascular necrosis of the capital f... ORPHA:581
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Bifid uterus, Cleft palate, Bifid uvula ORPHA:2736
Rajab Interstitial Lung Disease With Brain Calcifications 1
Inguinal hernia, Small scrotum, Intestinal malrotation, Pectus excavatum, Esophageal varix, Bile ... OMIM:613658
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormality of the cervica... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormality of the cervica... ORPHA:353277
Craniorachischisis
Omphalocele, Bifid sternum, Anal atresia ORPHA:63260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnor... ORPHA:438213
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:228308
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Norrie Disease
Diabetes mellitus, Cryptorchidism, Optic atrophy, Uterine rupture, Scoliosis, Erectile dysfunctio... ORPHA:649
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hepatomegaly, Craniosynostosis, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopat... OMIM:252500
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Fucosidosis
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Prominent metopic ridge, Adrenocortical cytomegaly, Cryptorchidism,... ORPHA:116
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Sandal gap, Optic nerve hypoplasia, Short neck, Long fingers, Cutaneous syndactyly... OMIM:620330
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Osteoporosis, Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:365
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Cystic Fibrosis
Male infertility, Meconium ileus, Rectal prolapse, Ileus, Clubbing of fingers, Steatorrhea OMIM:219700
Abetalipoproteinemia
Osteopenia, Hepatomegaly, Cardiomegaly ORPHA:14
Johanson-Blizzard Syndrome
Colonic diverticula, Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Septate vagina, Mala... OMIM:243800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Alagille Syndrome 1
Hypoplasia of the ulna, Multiple small medullary renal cysts, Abnormal rib morphology, Hemiverteb... OMIM:118450
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Inguinal hernia, Congenital hip dislocation, Hypospadias, Pectus excavatum, Cr... ORPHA:286
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal epiph... ORPHA:667
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:137675
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Singleton-Merten Syndrome 1
Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... OMIM:182250
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Osteomalacia, Cardiomegaly, Pericardial effusion, Myocardial calcificati... ORPHA:51608
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:256040

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hoxa10

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hoxa10.

No publications found that use IMPC mice or data for Hoxa10.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hoxa10tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Hoxa10tm97265(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hoxa10tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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