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Gene: Hmga2 MGI:101761

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hmga2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hmga2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth... ORPHA:397590
Silver-Russell Syndrome 5
Relative macrocephaly, Intrauterine growth retardation, Small for gestational age, Birth length l... OMIM:618908
12Q14 Microdeletion Syndrome
Frontal bossing, Diabetes mellitus, Short stature, Intestinal malrotation, Microcephaly, Ectopic ... ORPHA:94063
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
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
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
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, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
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 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility ORPHA:98797
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
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
Coxoauricular Syndrome
Microtia, Short stature, Hearing impairment OMIM:122780
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
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 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 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Caudal Appendage-Deafness Syndrome
Cryptorchidism, Short stature, Abnormal digit morphology, Infantile sensorineural hearing impairment ORPHA:1123
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Short stature, Uplifted earlobe, Tapered finger, Cryptorchidism, S... ORPHA:3459
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Microtia, Low-set ears, Decreased body weight, Intrauterine growth reta... OMIM:617564
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Short stature, Tapered finger, Cryptorchidism, Obesity, Hypogonadism, Microp... ORPHA:85274
Macrocephaly/Autism Syndrome
Short attention span, Frontal bossing, Penile freckling, Large for gestational age, Obesity, Hydr... OMIM:605309
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Xq27.3Q28 Duplication Syndrome
Short stature, Cryptorchidism, Small hand, Short foot, Truncal obesity, Hypogonadism, Sparse body... ORPHA:261483
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Short thumb, Abnormal antihelix morphology, Hearing impairment OMIM:274205
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Short stature, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Protruding... ORPHA:247768
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Broad-based gait, Short stature, Cachexia, Microcephaly, Obesity, Hypogonadi... ORPHA:85293
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
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
Satoyoshi Syndrome
Short stature, Tapered finger, Nephrogenic diabetes insipidus, Abnormality of the humerus, Abnorm... ORPHA:3130
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... OMIM:614841
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
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 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Lig4 Syndrome
Hypoplasia of penis, Microcephaly, Malabsorption, Cryptorchidism, Brachycephaly, Growth delay, Bi... ORPHA:99812
Toluene Embryopathy
Short stature, Microcephaly, Cryptorchidism, Biparietal narrowing, Hydronephrosis ORPHA:1920
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Bowen-Conradi Syndrome
Short stature, Rocker bottom foot, Camptodactyly of finger, Cryptorchidism, Severe postnatal grow... ORPHA:1270
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
7P22.1 Microduplication Syndrome
Cryptorchidism, Abnormality of the outer ear ORPHA:314034
8P23.1 Microdeletion Syndrome
Hypospadias, Short stature, Microcephaly, Cryptorchidism, Patent ductus arteriosus, Obesity, Weig... ORPHA:251071
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cry... ORPHA:1703
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Sensorineural hearing impairment, Irregular menstr... OMIM:617565
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Seckel Syndrome 7
Severe short stature, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Central... OMIM:614851
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Arachnodactyly, Hearing impairment,... ORPHA:243
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Tapered finger, Cryptorchidism, Obesity, Short foot, Thick eyebrow OMIM:309585
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased palmar creases, Decreased serum estradiol, Triphalangeal thumb, Apl... ORPHA:2232
Craniosynostosis 1
Frontal bossing, Turricephaly, Craniosynostosis, Sagittal craniosynostosis, Oxycephaly, Scaphocep... OMIM:123100
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
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201710
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Severe short stature, Hypogonadotropic hypogonadism, Decreased response to g... OMIM:275400
Bardet-Biedl Syndrome 8
Hypogonadism, Brachycephaly, Hypospadias, Obesity OMIM:615985
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Ataxia, Urinary incontinence, Reduced sperm motility, Dementia, Infertility, Di... ORPHA:320391
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612964
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Primary ameno... OMIM:615300
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Perrault Syndrome 3
Streak ovary, Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hor... OMIM:614129
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Satoyoshi Syndrome
Short metacarpal, Brachydactyly, Short stature, Alopecia, Short metatarsal, Osteolytic defects of... OMIM:600705
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Short stature, Abnormality of the ureter, Cleft palate, Polycystic ovaries, Gonadal dysgenesis, B... ORPHA:1770
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Microtia, Hypogonadotropic hypogonadism ORPHA:939
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Hypergonadotropic hypogonadism, Short stature, Hypospadias, Shyness, Cryptorch... ORPHA:163971
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Preaxial hand polydactyly, Prot... ORPHA:2316
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly, Small for gestational age, Decreased testicular size, Decreased body weight ORPHA:93950
Orofaciodigital Syndrome Type 6
Frontal bossing, Ataxia, Short stature, Hamartoma of tongue, Bilateral cryptorchidism, Cleft pala... ORPHA:2754
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
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... OMIM:612290
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Monosomy 18Q
Short stature, Microcephaly, Bilateral cryptorchidism, Hypothyroidism, Patent ductus arteriosus, ... ORPHA:1600
Mosaic Trisomy 9
Hypoplasia of penis, Intestinal malrotation, Microcephaly, Cryptorchidism, Patent ductus arterios... ORPHA:99776
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, A... ORPHA:3055
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Macrocephaly, Benign Familial
Frontal bossing, Biparietal narrowing, Dolichocephaly, Macrocephaly OMIM:153470
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... ORPHA:3363
Non-Distal Deletion 10Q
Cognitive impairment, Ataxia, Biparietal narrowing, Gait disturbance ORPHA:1581
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Hao-Fountain Syndrome
Hallux valgus, Cryptorchidism, Low-set ears, Clinodactyly of the 5th finger, Premature adrenarche... OMIM:616863
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Bardet-Biedl Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Medial flaring of the ... ORPHA:110
Chromosome 15Q26-Qter Deletion Syndrome
Short stature, Hypospadias, Small for gestational age, Cryptorchidism, Short middle phalanx of fi... OMIM:612626
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Cryptorchidism, Synophrys, Low posterior hairline, Large hands, Decrea... ORPHA:85287
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Small for gestational age, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Cryptorchidism, Short thumb, Abnormal antihelix morphology, Hypoplasia of the a... ORPHA:2489
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility OMIM:615703
Ring Chromosome 12 Syndrome
Syndactyly, Small for gestational age, Cryptorchidism, Abnormal 5th finger morphology, Glandular ... ORPHA:1439
Tetraploidy
Microcephaly, Cleft palate, Hydronephrosis, Biparietal narrowing, Intrauterine growth retardation... ORPHA:3305
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Brachydactyly, Short stature, Abnormal metatarsal morphology, Curly eyelashes, Crypto... ORPHA:163654
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Ovarian Dysgenesis 5
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... OMIM:617690
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Trisomy 4P
Low-set, posteriorly rotated ears, Short stature, Camptodactyly of finger, Hypospadias, Abnormal ... ORPHA:1738
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Small for gestational age, Postnatal growth retardation, Cryptorchidism, Macrotia, Bilateral tali... ORPHA:319332
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Gordon Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Clinodactyly of the 5t... ORPHA:376
Intellectual Disability, Buenos-Aires Type
Short stature, Microcephaly, Hydronephrosis, Abnormal calvaria morphology, High palate, Biparieta... ORPHA:3079
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Metaphyseal dysplasia, Severe short stature, Hypospadias, Decreased response to growth hormone st... OMIM:618336
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Failure to thrive, Toe syndactyly, Arachnodactyly, Short... ORPHA:505237
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Cryptorchidism, Obesity, Radioulnar synost... ORPHA:171839
Isotretinoin Syndrome
Cognitive impairment, Biparietal narrowing, Cleft palate ORPHA:2305
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Mic... ORPHA:79113
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Progressive cerebellar ataxia, Cognitive impairment, Testicular at... ORPHA:276183
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Syn... ORPHA:2983
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Decreased fertility in males, Delayed ... ORPHA:2965
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Alazami-Yuan Syndrome
Thick eyebrow, Broad hallux, Short stature, Single transverse palmar crease, Highly arched eyebro... OMIM:617126
1Q44 Microdeletion Syndrome
Frontal bossing, Short stature, Intestinal malrotation, Microcephaly, Horseshoe kidney, Growth de... ORPHA:238769
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
Spinocerebellar Ataxia 32
Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy OMIM:613909
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormality of the parathyroid gland, Abnor... ORPHA:3429
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, Generalized hirsutism, Low-set, posteriorly rotat... ORPHA:1918
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Frontal bossing, High palate, Biparietal narrowing ORPHA:261250
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Brachycephaly ORPHA:2528
Mucolipidosis Type Iv
Ataxia, Biparietal narrowing, Gait disturbance, Microcephaly ORPHA:578
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Obesity, Bilat... ORPHA:319675
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Adrenal hypoplasia, Micromelia, Cryptorchidism, Hypogonadism,... ORPHA:85173
Non-Distal Duplication 10Q
Cryptorchidism, Frontal bossing, Brachycephaly ORPHA:1695
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Femoral-Facial Syndrome
Short femur, Short stature, Maternal diabetes, Cryptorchidism, Long penis, Coxa vara, Abnormal fi... ORPHA:1988
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Tapered finger, Cryptorchidi... ORPHA:85282
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short metatarsal, Clitoral hypoplasia, Sparse hair, Short metacarpal, Rhizomelia, Microtia, Short... OMIM:614813
Fetal Alcohol Syndrome
Short stature, Microcephaly, Cleft palate, Biparietal narrowing, Cognitive impairment, Intrauteri... ORPHA:1915
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Coxoauricular Syndrome
Microtia, Short stature, Atresia of the external auditory canal, Hearing impairment ORPHA:1508
Meier-Gorlin Syndrome 4
Short stature, Cryptorchidism, Patellar aplasia, Birth length less than 3rd percentile, Microtia,... OMIM:613804
Meier-Gorlin Syndrome 5
Small earlobe, Short stature, Elbow dislocation, Cryptorchidism, Irregular femoral epiphysis, Pat... OMIM:613805
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Brachycephaly OMIM:300699
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Cryptorchidism,... OMIM:301900
Cardiofaciocutaneous Syndrome
Frontal bossing, Failure to thrive in infancy, Short stature, Cryptorchidism, Submucous cleft har... ORPHA:1340
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility OMIM:619949
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Short stature, Sparse eyelashes, Sparse eyebrow, Microtia, Micropenis, Failure to... ORPHA:370079
Joubert Syndrome With Renal Defect
Renal insufficiency, Ataxia, Aganglionic megacolon, Cleft palate, Gait disturbance, Biparietal na... ORPHA:220497
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Decreased body weight, Short stature, Adducted thumb OMIM:616681
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Sensorineural hearing i... ORPHA:3085
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Polydactyly, Brac... OMIM:615982
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Short stature, Narrow palate, Abnormal calvaria morphology, Biparietal narrowing, Intrauterine gr... ORPHA:1323
Filippi Syndrome
Single transverse palmar crease, Postnatal growth retardation, Cryptorchidism, 2-4 toe syndactyly... OMIM:272440
Lathosterolosis
Hypoplasia of penis, Microcephaly, Horseshoe kidney, High palate, Biparietal narrowing, Intrauter... ORPHA:46059
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Hypogonadotropic hypogonad... ORPHA:2235
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Laurence-Moon Syndrome
Hypoplasia of penis, Cryptorchidism, Brachycephaly, Obesity, Displacement of the urethral meatus ORPHA:2377
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:178377
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Unilateral cryptorchidism, Sparse eyelashes, Microtia, Atresia of the external auditory canal, Co... OMIM:300946
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Intellectual Disability, Wolff Type
Hypospadias, Camptodactyly of finger, Cryptorchidism, Macrotia, Low posterior hairline, Large han... ORPHA:3080
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Synophrys, Microtia, Low-set ears, Decreased body weight, Clinodactyly, H... ORPHA:357175
Chromosome 3Q13.31 Deletion Syndrome
Dolichocephaly, Cryptorchidism, Brachycephaly, Plagiocephaly, Shawl scrotum, Micropenis, Decrease... OMIM:615433
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Short stature, Conductive hearing impairment, Short foot, Microtia, Joint contracture of the 5th ... OMIM:248910
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Short stature, Arachnodactyly, Posteriorl... OMIM:600325
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Cranial h... ORPHA:330015
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Short stature, Arachnodactyly, Camptodactyl... ORPHA:2994
15Q14 Microdeletion Syndrome
Short stature, Biparietal narrowing, Cleft palate, Microcephaly ORPHA:261190
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Intrauterine growth retardation, Short stature, Biparietal narrowing, Microcephaly ORPHA:2518
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Ohdo Syndrome
Small scrotum, Short stature, Sparse eyebrow, Cryptorchidism, Microtia, Clinodactyly of the 5th f... OMIM:249620
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Turricephaly, Severe short stature, Microcephaly, Moderate postnatal growth retardation, Bipariet... ORPHA:1005
Meier-Gorlin Syndrome 3
Small scrotum, Coxa vara, Patellar hypoplasia, Micropenis, Genu varum, Short stature, Hypospadias... OMIM:613803
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... ORPHA:1772
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Camptodactyly of finger, Tapered finger, Cryptorchidism, Protruding ear, Patchy al... ORPHA:85279
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Short stature, Renal cyst, Glossoptosis, Biparietal narrowing ORPHA:2031
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly, Intrauterine growth retardation ORPHA:3303
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Midface retrusion, Hypoplas... OMIM:618577
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Synophrys, Microtia, Low-set ears, Decreased body weight, Clinodactyly, H... OMIM:615162
Megalencephaly
Frontal bossing, Dolichocephaly, Long penis, Prominent occiput, Truncal obesity, Macrocephaly, Ma... ORPHA:2477
Coffin-Siris Syndrome 8
Sparse scalp hair, Cryptorchidism, Long eyelashes, Failure to thrive, Thick eyebrow, Hypertrichosis OMIM:618362
Joubert Syndrome With Oculorenal Defect
Renal insufficiency, Aganglionic megacolon, Ataxia, Biparietal narrowing, Nephropathy, Abnormalit... ORPHA:2318
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Conductive hearing impai... OMIM:601076
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... OMIM:228300
Adenylosuccinate Lyase Deficiency
Flat occiput, Brachycephaly ORPHA:46
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Sandal gap, Short stature, Posteriorly rotated ears, Tapered finger, Small hand, Obesity, Short f... OMIM:618089
Gómez-López-Hernández Syndrome
Turricephaly, Brachycephaly, Midface retrusion ORPHA:1532
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Cornelia De Lange Syndrome 5
Toe syndactyly, Short stature, Proximal placement of thumb, Highly arched eyebrow, Postnatal grow... OMIM:300882
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea OMIM:184700
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Abnormal palmar dermatoglyphics, Postnatal growth retardation, Cryptorchidism, Mic... ORPHA:2728
Arthrogryposis, Distal, Type 1C
Short stature, Rocker bottom foot, Camptodactyly of finger, Cryptorchidism, Elbow flexion contrac... OMIM:619110
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Short stature, Microcephaly, Brachycephaly, Biparietal narrowing, Intrauterine g... ORPHA:1292
Saethre-Chotzen Syndrome
Low anterior hairline, Triphalangeal thumb, Conductive hearing impairment, Clinodactyly of the 5t... ORPHA:794
N Syndrome
Cryptorchidism, Hypospadias, Bilateral sensorineural hearing impairment ORPHA:2608
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Short Stature And Facioauriculothoracic Malformations
Proportionate short stature, Cupped ear, Microtia, Low-set ears, Overfolded helix OMIM:609654
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... OMIM:110100
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Posteriorly rotated ears, Precocious puberty, Long fingers, Growth del... ORPHA:447980
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Hypospadias, Cryptorchidism, Brachycephaly, Abnormal shape of the occiput, Brach... OMIM:218350
Joubert Syndrome
Aganglionic megacolon, Ataxia, Gait disturbance, Biparietal narrowing, Abnormality of the hypotha... ORPHA:475
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short stature, Slow-growing hair, Meta... ORPHA:3082
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Pierpont Syndrome
Cryptorchidism, Brachycephaly, Decreased body weight, Micropenis, Failure to thrive, Midface retr... OMIM:602342
Buratti-Harel Syndrome
Broad hallux, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Microtia, Low-set ears, Smal... OMIM:619314
3Q29 Microduplication Syndrome
Craniosynostosis, Microcephaly, Obesity, Cleft palate, Ectopic anus, High palate, Biparietal narr... ORPHA:251038
Congenital Disorder Of Glycosylation, Type Iig
Single transverse palmar crease, Conductive hearing impairment, Rhizomelia, Short stature, Hyposp... OMIM:611209
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Joubert Syndrome With Ocular Defect
Ataxia, Aganglionic megacolon, Cleft palate, Gait disturbance, Biparietal narrowing, Abnormality ... ORPHA:220493
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Short stature, Micromelia, Ab... ORPHA:1597
Sickle Cell Disease
Cholelithiasis, Priapism OMIM:603903
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Attached earlobe, Scapular winging, Toe syndactyly, Short stature, Brachydactyly, ... ORPHA:1327
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Frontal bossing, Brachycephaly, Craniosynostosis ORPHA:314575
Potocki-Shaffer Syndrome
Parietal foramina, Micropenis, Brachycephaly, Turricephaly OMIM:601224
Perrault Syndrome 2
Sensorineural hearing impairment, Streak ovary, Amenorrhea OMIM:614926
1Q21.1 Microduplication Syndrome
Cryptorchidism, Failure to thrive, Hypospadias, Talipes equinovarus ORPHA:250994
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Hemochromatosis, Type 1
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular at... OMIM:235200
Distal Deletion 10P
Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Abnormal fingernail morpho... ORPHA:1580
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth... ORPHA:397590
Weaver Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Deep-set nails, Sandal... ORPHA:3447
Warburg Micro Syndrome 1
Failure to thrive, Overlapping toe, Short stature, External genital hypoplasia, Cryptorchidism, L... OMIM:600118
Distal 22Q11.2 Microduplication Syndrome
Frontal bossing, Unilateral renal agenesis, Microcephaly, Cryptorchidism, Patent ductus arteriosu... ORPHA:261337
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Biparietal narrowing, Multicystic kidney dysplasia, Hypospadias, Short statu... ORPHA:818
Endocardial Fibroelastosis
Low-set, posteriorly rotated ears, Hypoplasia of penis, Sandal gap, Cryptorchidism, Abnormal heli... ORPHA:2022
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Microtia OMIM:612138
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Temple Syndrome
Relative macrocephaly, Frontal bossing, Small for gestational age, Decreased response to growth h... ORPHA:254516
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph... ORPHA:2872
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Short stature, Cachexia, Cryptorchidism, Synophrys, Protruding... ORPHA:2471
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplastic fifth toenail, Sparse scalp hair, Short stature, Decreased response to growth hormone... OMIM:615866
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... OMIM:212840
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Acrofacial Dysostosis, Catania Type
Short stature, Single transverse palmar crease, Hypospadias, Cryptorchidism, Widow's peak, Short ... OMIM:101805
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian insufficien... ORPHA:3464
Leukodystrophy, Hypomyelinating, 21
Growth delay, Cryptorchidism, Failure to thrive, Hypogonadotropic hypogonadism OMIM:619310
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Female infertility, Mitochondrial hypertrophy, Se... OMIM:619518
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Severe short stature, Microtia, Atresia of the external auditory c... ORPHA:2213
6Q16 Microdeletion Syndrome
Abnormal ear morphology, Tapered finger, Obesity, Microtia, Low-set ears, Thick eyebrow ORPHA:171829
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Craniosyn... OMIM:614732
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Hypogonadotropic... ORPHA:1387
Hemochromatosis, Type 3
Impotence, Hypogonadotropic hypogonadism, Amenorrhea OMIM:604250
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Uplifted earlobe, Hearing impairment, Bil... OMIM:617746
Chromosome 16Q22 Deletion Syndrome
Hypospadias, Single transverse palmar crease, Broad hallux, Posteriorly rotated ears, Postnatal g... OMIM:614541
Pierpont Syndrome
Cryptorchidism, Small for gestational age, Brachycephaly ORPHA:487825
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Gait disturbance, Biparietal narrowing... ORPHA:1454
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Li-Campeau Syndrome
Short stature, Single transverse palmar crease, Cryptorchidism, Patellar hypoplasia, Low-set ears... OMIM:619189
Polydactyly-Myopia Syndrome
Cryptorchidism, Postaxial hand polydactyly ORPHA:2917
C Syndrome
Multicystic kidney dysplasia, Failure to thrive in infancy, Short stature, Microcephaly, Cryptorc... ORPHA:1308
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Short stature, Hypospadias,... ORPHA:93932
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Abnormal finger morphology, Sparse or absent eyelashes, Coarse... ORPHA:113
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... ORPHA:465508
Myoectodermal Gonadal Dysgenesis Syndrome
Single transverse palmar crease, Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Sh... OMIM:618419
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Short stature, Tapered finger, Cryptorchidism, Short toe, Lar... ORPHA:127
Silver-Russell Syndrome 3
Relative macrocephaly, Frontal bossing, Unilateral cryptorchidism, Small for gestational age, Sho... OMIM:616489
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Cone-... OMIM:618958
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Meier-Gorlin Syndrome 2
Short stature, Abnormal pinna morphology, Patellar aplasia, Birth length less than 3rd percentile... OMIM:613800
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Short palm, Clinodactyly of the 5th finger, Micropenis, Genu varum, ... OMIM:224690
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
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
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa... OMIM:300200
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Impotence, Diabetes mellitus, Hypogonadism ORPHA:79230
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Failure to thrive, Brachycephaly OMIM:309541
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Posteriorly rotated ears, Rocker bottom foot, Hearing impairment, Tapered finger, ... OMIM:601353
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
Zechi-Ceide Syndrome
Sandal gap, Thick hair, Short metatarsal, Abnormal earlobe morphology, Microtia, Low-set ears, Ab... ORPHA:217017
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Micromelia, Split hand, Abnormal antihelix morphology, Microtia... ORPHA:2145
Ohdo Syndrome, X-Linked
Small scrotum, Overlapping toe, Ulnar deviation of the hand, Posteriorly rotated ears, Sparse eye... OMIM:300895
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Bilateral cryptorchidis... OMIM:305400
Temple Syndrome
Short stature, Posteriorly rotated ears, Maturity-onset diabetes of the young, Small for gestatio... OMIM:616222
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Abnormal pinna morphology, Cryptorchidism, Clinodactyly, Widow's peak, Small hand, Overfolded hel... OMIM:614684
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Apla... ORPHA:3409
Intellectual Developmental Disorder, X-Linked 106
Hypospadias, Cryptorchidism, Synophrys, Frontal upsweep of hair, Low-set ears, Clinodactyly of th... OMIM:300997
Hemifacial Atrophy, Progressive
Microtia, Patchy alopecia, Poliosis OMIM:141300
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Amed Syndrome, Digenic
Short stature, Adrenal hypoplasia, Hypoplasia of the uterus, Long thumb, Failure to thrive OMIM:619151
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Acrocephalopolydactyly
Limb undergrowth, Microtia, Brachydactyly ORPHA:221054
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Biparietal narrowing ORPHA:228396
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201910
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Low-set ears ORPHA:436151
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Hypoplastic fifth toenail, Hypospadias, Proxim... ORPHA:2438
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Nabais Sa-De Vries Syndrome, Type 2
Posteriorly rotated ears, Failure to thrive in infancy, Tapered finger, Sparse eyebrow, Protrudin... OMIM:618829
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Clinodactyly of the 5th finger, Radial bowing, Hypospadias, Pseudoepiph... OMIM:210720
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Sparse scalp hair, Short stature, Abnormal fingernail morpholo... ORPHA:2701
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Short stature, Single transverse palmar crease, Cryptorchidism, Synophrys, 2-3 toe syndactyly, Ab... ORPHA:502434
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Short stature, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, 3-4 finger cutan... OMIM:612530
20P12.3 Microdeletion Syndrome
Thickened helices, Microtia, Short stature ORPHA:261295
Potocki-Shaffer Syndrome
Parietal foramina, Micropenis, Brachycephaly ORPHA:52022
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Cryptorchidism, Microtia, Micropenis, Abnormal morphology of f... ORPHA:1926
Peho Syndrome
Midface retrusion, Biparietal narrowing, Microcephaly ORPHA:2836
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal hair... ORPHA:3051
Branchial Arch Syndrome, X-Linked
Short stature, Cryptorchidism, Protruding ear, Low-set ears, Hearing impairment OMIM:301950
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Short stature, Hypogonadotropic hypogonadism, Broad hallux, Overlapping toe, Underdeveloped super... ORPHA:293967
11Q22.2Q22.3 Microdeletion Syndrome
Bilateral single transverse palmar creases, Posteriorly rotated ears, Small hand, Obesity, Short ... ORPHA:444002
Distal Triplication 15Q
Arachnodactyly, Abnormal external genitalia, Large for gestational age, Sensorineural hearing imp... ORPHA:314588
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Aplasia/Hypoplas... ORPHA:1788
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Intellectual Developmental Disorder, Autosomal Dominant 1
Short stature, Sandal gap, Highly arched eyebrow, Postnatal growth retardation, Cupped ear, Protr... OMIM:156200
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Epispadias, Clitoral hypoplasia, Anotia, Clinodactyly of the 5th finger, Mic... ORPHA:2554
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormality of the hand ORPHA:1621
Abruzzo-Erickson Syndrome
Toe syndactyly, Short stature, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Senso... ORPHA:921
Schaaf-Yang Syndrome
Short stature, Rocker bottom foot, Failure to thrive in infancy, Tapered finger, Cryptorchidism, ... OMIM:615547
Even-Plus Syndrome
Severe short stature, Highly arched eyebrow, Synophrys, Microtia, Sparse hair, Dysplasia of the f... OMIM:616854
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair ORPHA:1174
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Short stature, External genital hypoplasia, Congenital abnormal hair pattern, Tapered f... ORPHA:1867
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Spermatogenic Failure 28
Non-obstructive azoospermia, Decreased testicular size, Male infertility OMIM:618086
Acute Transverse Myelitis
Priapism, Abnormal libido ORPHA:139417
Chung-Jansen Syndrome
Tapered finger, Cryptorchidism, Synophrys, Obesity, Large earlobe, Clinodactyly of the 5th finger... OMIM:617991
Prieto Syndrome
Coxa valga, Cryptorchidism, Talipes equinovarus, Radial deviation of finger, Low-set ears, Clinod... OMIM:309610
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidis... OMIM:603467
Aica-Ribosiduria
Fused labia minora, Brachycephaly, Clitoral hypertrophy ORPHA:250977
Freeman-Sheldon Syndrome
Short stature, Camptodactyly of finger, Cryptorchidism, Ulnar deviation of finger, Growth delay, ... ORPHA:2053
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadism, Brachycephaly, Hypogonadotropic hypogonadism, Decreased fertility ORPHA:1173
Arthrogryposis, Distal, Type 1A
Short stature, Single transverse palmar crease, Overlapping toe, Rocker bottom foot, Cryptorchidi... OMIM:108120
Craniosynostosis 6
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... OMIM:616602
20Q11.2 Microduplication Syndrome
Bifid scrotum, Low-set, posteriorly rotated ears, Cryptorchidism, Thickened ears, Growth delay, S... ORPHA:363659
Fetal Akinesia Deformation Sequence 4
Posteriorly rotated ears, Rocker bottom foot, Cryptorchidism, Low-set ears, Camptodactyly OMIM:618393
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Agonadism, Sex reversal, Hypopl... OMIM:154230
Retinitis Pigmentosa 59
Cryptorchidism, Sensorineural hearing impairment, Intrauterine growth retardation, Micropenis, Fa... OMIM:613861
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Coxa valga, Cryptorchidism, Finger clinodactyly, Bilateral talipes equinovarus, Low-set ears ORPHA:2958
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Short stature ORPHA:408
Meier-Gorlin Syndrome 6
Severe short stature, Sandal gap, Decreased response to growth hormone stimulation test, Posterio... OMIM:616835
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Hand clenching, Cryptorchidism, Rocker bottom foot, Low-set ears OMIM:618766
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Single transverse palmar crease, Small for gestational age, Postnatal growth retar... ORPHA:73272
Van Maldergem Syndrome 2
Bifid scrotum, Short fourth metatarsal, Ulnar deviation of the hand, Hypospadias, Cryptorchidism,... OMIM:615546
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Hypospadias, Brachydactyly, Cryptorchidism, Short metatarsal... OMIM:614613
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Brachydactyly, Camptodactyly of finger, Posteriorly rotated e... ORPHA:2083
Pseudodiastrophic Dysplasia
Frontal bossing, Failure to thrive, Brachycephaly, Midface retrusion OMIM:264180
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Abnormal hair morphology, Per... OMIM:264600
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Brachycephaly OMIM:264470
Microtia-Anotia
Anotia, Microtia OMIM:600674
Omodysplasia 2
Dyspareunia, Short humerus, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Uterus didelph... OMIM:164745
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Micropenis, Short phalanx of finger, Syndactyly, Short metacarpal, Alop... OMIM:263650
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short stature, Small for gestational age, Micromelia, Postnatal growth retardation, Wide distal f... OMIM:613320
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Failure to thrive, Short stature, Overlapping toe, Abnormal pinna morphology, Tapered finger, Hig... OMIM:617452
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Weiss-Kruszka Syndrome
Hypoplastic fingernail, Single transverse palmar crease, Proximal placement of thumb, Hearing imp... OMIM:618619
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Failure to thrive, Brachycephaly OMIM:618603
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Primary amenorrh... OMIM:612702
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Intrauteri... OMIM:616910
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Short stature, Micromelia, Obesity... ORPHA:1035
Cebalid Syndrome
Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion OMIM:618774
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Short stature, Sandal gap, Highly arched eyebrow, Cryptorchidism, Synophrys,... ORPHA:228402
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Short stature, Obesity, Microtia, Low-set ears, Hearing impairment OMIM:619056
Linear Nevus Sebaceus Syndrome
Frontal bossing, Prominent occiput, Plagiocephaly, Growth delay, Adenoma sebaceum, Biparietal nar... ORPHA:2612
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Postnatal growth ... ORPHA:96184
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
Pelvis-Shoulder Dysplasia
Syndactyly, Short stature, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Apl... ORPHA:2839
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
German Syndrome
Cryptorchidism, Brachycephaly, Dolichocephaly, Ambiguous genitalia, Midface retrusion ORPHA:2077
15Q24 Microdeletion Syndrome
Small for gestational age, Short stature, Decreased response to growth hormone stimulation test, ... ORPHA:94065
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Short stature, Hypospadias, Hearing impairment, Bowing of the legs, Aplasi... OMIM:617063
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Tapered finger, Cryptorchidism, Synophrys, 2-3 toe syndactyly, Increased body weight, Recurrent o... ORPHA:589905
Parenti-Mignot Neurodevelopmental Syndrome
Cupped ear, Microtia, Posteriorly rotated ears, Low-set ears OMIM:619873
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Low-set, posteriorly rotated ears, Postnatal growth retardation, Precocious puberty, Acromicria, ... ORPHA:254525
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:141400
Adnp Syndrome
Sparse scalp hair, Short stature, Single transverse palmar crease, Broad hallux, Sandal gap, Abno... ORPHA:404448
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Small for gestational age, Cryptorchidism, Brachycephaly, Dolichocephaly, Trigonoce... OMIM:613792
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Short stature, Hypospadias, Sandal gap, Abnormal pinna morphology, Cryptorchidism, Small hand, Sh... OMIM:300354
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Brachycephaly, Decreased body weight OMIM:300958
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Postnatal growth retardation, Precocious puberty, Small han... ORPHA:254531
Short Stature-Wormian Bones-Dextrocardia Syndrome
Short stature, Camptodactyly of finger, Cryptorchidism, Midshaft hypospadias, Long eyelashes, Low... ORPHA:2863
Coffin-Siris Syndrome 2
Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Short stature, Sandal gap, Hearing imp... OMIM:614607
Catifa Syndrome
Microtia OMIM:618761
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... OMIM:206920
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Short stature, Maternal diabetes, Abnormality of the middle ear ... ORPHA:2549
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Metaphyseal sclerosis, Primary adrenal in... ORPHA:2905
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Precocious puberty, Cryptorchidism, Synophrys, 2-3 toe syndact... ORPHA:3306
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Schilbach-Rott Syndrome
Short stature, Hypospadias, Posteriorly rotated ears, 2-3 toe cutaneous syndactyly, 3-4 finger cu... OMIM:164220
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Posteriorly rotated ears, Tapered finger, Postnatal growth retardation, Cryptorchidi... OMIM:301040
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Failure to thrive, Small for gestational age, Brachycephaly OMIM:609757
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Small scrotum, Cryptorchidism, Brachycephaly, Hypogonadism, Coronal craniosynost... ORPHA:228390
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Failure to thrive, Brachycephaly ORPHA:70472
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Short stature, Failure to thrive, Adrenal hypop... ORPHA:95496
Cousin Syndrome
Ambiguous genitalia, female, Low anterior hairline, Ambiguous genitalia, male, Clinodactyly of th... OMIM:260660
Wiedemann-Steiner Syndrome
Elbow hypertrichosis, Synophrys, Clinodactyly of the 5th finger, Short phalanx of finger, General... OMIM:605130
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormal pinna morphol... ORPHA:178303
Silver-Russell Syndrome
Abnormality of male external genitalia, Low-set, posteriorly rotated ears, Short stature, Hypospa... ORPHA:813
Tonne-Kalscheuer Syndrome
Short stature, Hypospadias, Shyness, Concave nail, Cryptorchidism, Fine hair, Growth delay, Broad... OMIM:300978
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Microtia, Camptodactyly of finger, Symphalangism affecting the phalanges of ... ORPHA:2547
Fetal Hydantoin Syndrome
Bifid scrotum, Low-set, posteriorly rotated ears, Hypoplastic fingernail, Short stature, Abnormal... ORPHA:1912
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Toe syndactyly, Hypospadias, Supernumerary nipple, Cachexia, Cr... ORPHA:217346
Clark-Baraitser Syndrome
Brachycephaly, Obesity, Dolichocephaly OMIM:617752
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Mandibulofacial Dysostosis With Alopecia
Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of th... OMIM:616367
Luscan-Lumish Syndrome
Short stature, Shyness, Irregular menstruation, Advanced ossification of carpal bones, Obesity, P... OMIM:616831
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Cryptorchidism, Premature graying of hair, Alopecia of scalp, Excessive wri... OMIM:210700
Mmep Syndrome
Cryptorchidism, Split foot, Triphalangeal thumb ORPHA:3434
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Tapered finger, Synophrys, Microtia, Failure to thrive, Hirsutism OMIM:616977
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Decreased response to growth hormone stimul... ORPHA:1263
Scorpion Envenomation
Priapism ORPHA:466677
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Short stature, Failure to thrive in infancy, Postnatal ... ORPHA:261323
Autism Spectrum Disorder Due To Auts2 Deficiency
Short stature, Decreased palmar creases, Highly arched eyebrow, Small for gestational age, Crypto... ORPHA:352490
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Microtia, Hypergonadotropic hypogonadism, Finger joint contracture OMIM:212112
Joubert Syndrome 37
Short stature, Posteriorly rotated ears, Postaxial polydactyly, Cryptorchidism, Obesity, Low-set ... OMIM:619185
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Growth delay, Microtia, Camptodactyly, Hearing impairment OMIM:616006
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, Am... OMIM:202010
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Abnormal hair quantity, Severe short stature, Cryptorchidism, ... ORPHA:2617
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, External genital hypoplasia, Abnormal reproductive... ORPHA:65759
Mast Cell Sarcoma
Weight loss, Hypoplasia of the ear cartilage ORPHA:66661
Androgen Insensitivity Syndrome
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... OMIM:300068
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Clinodactyly, Sensorineural hearing... OMIM:147950
Autosomal Dominant Spastic Paraplegia Type 19
Female sexual dysfunction, Male sexual dysfunction ORPHA:100999
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Micromelia, Cryptorchidism, Disproportion... ORPHA:2772
3-Methylglutaconic Aciduria, Type V
Hypospadias, Ataxia, Postnatal growth retardation, Cryptorchidism, 3-Methylglutaric aciduria, 3-M... OMIM:610198
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, ... ORPHA:1716
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Wagr Syndrome
Short stature, Cryptorchidism, Hearing abnormality, Obesity, Ambiguous genitalia, Displacement of... ORPHA:893
Pontocerebellar Hypoplasia, Type 3
Brachycephaly, Decreased body weight OMIM:608027
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Cryptorchidism, Short thumb, Sensorineural heari... OMIM:194350
Fg Syndrome 3
Broad hallux, Cryptorchidism, Sensorineural hearing impairment, Fine hair, Frontal upsweep of hai... OMIM:300406
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Brachycephaly OMIM:615419
Ring Chromosome 21 Syndrome
Syndactyly, Short stature, Small hand, Narrow palm, Azoospermia, Infertility, Clinodactyly, Diabe... ORPHA:1445
Paganini-Miozzo Syndrome
Microtia, Posteriorly rotated ears, Low-set ears OMIM:301025
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism, Macrotia, Cupped ear OMIM:300659
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Distal Deletion 12Q
Single transverse palmar crease, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clin... ORPHA:96149
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Brachycephaly, Obesity ORPHA:352530
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis OMIM:614416
Developmental And Epileptic Encephalopathy 70
Cryptorchidism, Low-set ears OMIM:618298
Suleiman-El-Hattab Syndrome
Thick eyebrow, Single transverse palmar crease, Hearing impairment, Frontal hirsutism, Highly arc... OMIM:618950
Adrenoleukodystrophy
Alopecia, Primary adrenal insufficiency, Impotence, Hypogonadism, Hearing impairment OMIM:300100
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Short stature, Sensorineural hearing impairme... OMIM:606164
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Small for gestational age, Cryptorchidism, Sensorineural hearing impairment, Fine ... OMIM:616817
Distal Deletion 9P
Low-set, posteriorly rotated ears, Hypospadias, Aplasia/Hypoplasia of the earlobes, Hypoplastic l... ORPHA:1642
Faundes-Banka Syndrome
Sparse scalp hair, Premature thelarche, Hypoplastic toenails, Cryptorchidism, Cupped ear, Microti... OMIM:619376
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Short stature, Decreased response to growth hormone stimulation t... OMIM:300845
Imagawa-Matsumoto Syndrome
Cryptorchidism, Large hands, Camptodactyly, Clinodactyly, Hypertrichosis OMIM:618786
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Cryptorchidism, Frontal bossing, Brachycephaly OMIM:616789
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Single interphalangeal crease of fifth finger, Curly eyelashes, Postnatal growt... OMIM:611717
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Low-set ears, Clinodactyly of the 5th finger, Testicular atrophy OMIM:601163
Ruvalcaba Syndrome
Short palm, Short metacarpal, Short stature, Micromelia, Cryptorchidism, Limited elbow extension,... OMIM:180870
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Tapered finger, Synophrys, Obesity, Fine hair, Microtia, Long eyelashes, Macrotia, Hearing impair... OMIM:620250
Diastrophic Dysplasia
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Proximal pl... ORPHA:628
Tarp Syndrome
Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... OMIM:311900
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... ORPHA:2878
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Parietal Foramina With Cleidocranial Dysplasia
Microtia OMIM:168550
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Cryptorchidism, Genu valgum, Growth delay, Microtia, Frontal upsweep of hair, Microp... OMIM:617798
Lig4 Syndrome
Small for gestational age, Cryptorchidism, Brachycephaly, Micropenis, Failure to thrive, Amenorrhea OMIM:606593
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Frontal bossing, Failure to thrive in infancy, Cachexia, Brachycephaly, Plagiocephaly OMIM:616801
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Short stature, Hypospadias, Cryptorchidism, Short toe, Aplasia... ORPHA:98791
Manganese Poisoning
Impotence, Decreased female libido, Decreased male libido, Inappropriate laughter ORPHA:306682
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Frontal bossing, Brachycephaly, Plagiocephaly, Dolichocephaly, Failure to thrive, Midface retrusion OMIM:619721
Ulnar-Mammary Syndrome
Hypoplasia of penis, Hypoplastic toenails, Aplasia of the pectoralis major muscle, Abnormal finge... ORPHA:3138
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Brachycephaly OMIM:615834
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Failure to thrive, Short stature, Hypospadias, Overlapping toe, Sparse eyelashes, ... OMIM:613026
Neurofibromatosis-Noonan Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Short stature, Abnormal helix morphology ORPHA:638
Vitamin K Antagonist Embryofetopathy
Hearing impairment, Microtia, Intrauterine growth retardation, Short distal phalanx of finger, Br... ORPHA:1914
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... ORPHA:398079
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Unilateral cryptorchidism, Brachycephaly OMIM:618862
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Short stature, Single transverse palmar crease, Cryptorchidism, Long ey... OMIM:615502
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Congenital Arthrogryposis With Anterior Horn Cell Disease
Single transverse palmar crease, Rocker bottom foot, Cryptorchidism, Talipes equinovarus, Low-set... OMIM:611890
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Small for gestational age, Abnormality of the endocrine system, Cryptorchidism, Ve... ORPHA:95706
Craniofrontonasal Dysplasia
Frontal bossing, Hypospadias, Craniosynostosis, Brachycephaly, Plagiocephaly, Shawl scrotum ORPHA:1520
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Intestinal obstruction, Primary testicular failure, Renal insufficiency, Protei... ORPHA:85450
Aymé-Gripp Syndrome
Sparse scalp hair, Short stature, Rocker bottom foot, Posteriorly rotated ears, Tapered finger, P... ORPHA:1272
Isotretinoin Embryopathy-Like Syndrome
Anotia, Microtia OMIM:243440
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Posteriorly rotated ears, Proportionate short stature, Metatarsus adductus, Cryptorch... OMIM:227330
Bresek Syndrome
Alopecia, Cryptorchidism, Postaxial hand polydactyly, Protruding ear, Growth delay, Low-set ears,... ORPHA:85284
Opitz-Kaveggia Syndrome
Syndactyly, Short stature, Single transverse palmar crease, Hypospadias, Broad hallux, Cryptorchi... OMIM:305450
Hemochromatosis, Type 4
Impotence, Diabetes mellitus OMIM:606069
Non-Distal Duplication 13Q
Arachnodactyly, Abnormal fingernail morphology, Hypoplastic toenails, Cryptorchidism, Postaxial h... ORPHA:1702
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Ciliary Dyskinesia, Primary, 37
Hearing impairment, Hypothyroidism, Female infertility, Goiter OMIM:617577
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Elbow dislocation, Absent radius, ... OMIM:171480
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism, Failure to thrive, Genu varum OMIM:604317
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Cleft palate, Brachycephaly, Azoospe... ORPHA:96263
17Q24.2 Microdeletion Syndrome
Otosclerosis, Thick eyebrow, Failure to thrive in infancy, Decreased response to growth hormone s... ORPHA:529962
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Scalp-Ear-Nipple Syndrome
Underdeveloped antitragus, Anteverted ears, Protruding ear, Sparse hair, Clinodactyly of the 5th ... OMIM:181270
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Recombinant Chromosome 8 Syndrome
Posteriorly rotated ears, Postnatal growth retardation, Cryptorchidism, Low posterior hairline, G... OMIM:179613
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Overlapping toe, Short stature, Hypospadias, Tapered finger, Hyperconvex nail, Cryptorchidism, Sy... OMIM:300004
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Intellectual Developmental Disorder, Autosomal Dominant 51
Long toe, Unilateral cryptorchidism, Cryptorchidism, Talipes equinovarus, Recurrent otitis media,... OMIM:617788
Fetal Trimethadione Syndrome
Ambiguous genitalia, Hypospadias, Brachycephaly, Midface retrusion ORPHA:1913
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Short stature, Micromelia, Posteriorly rotated ear... ORPHA:93329
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor... ORPHA:950
Chromosome 18P Deletion Syndrome
Toe syndactyly, Short stature, Posteriorly rotated ears, Small for gestational age, Cryptorchidis... OMIM:146390
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Genu valgum, Small pituitary gland, Micropenis, Decreased tes... OMIM:614880
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b... OMIM:201750
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Hypospadias, Overlapping toe, Metatarsus adductus, Short thumb, Abnormal finger m... ORPHA:436003
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Short stature, Hypospadias, Uplifted earlobe, Tapered finger, Posteriorly rotated ... OMIM:616734
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Failure to thrive, Brachycephaly OMIM:620240
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Microtia OMIM:620137
Moyamoya Disease 6 With Or Without Achalasia
Impotence OMIM:615750
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly OMIM:618859
Kbg Syndrome
Short stature, Single transverse palmar crease, Abnormal hair pattern, Cryptorchidism, Synophrys,... ORPHA:2332
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Low-set, posteriorly rotated ears, Thick eyebrow, Small scrotum, Cryptorchidism, Synophrys, Broad... ORPHA:1970
Xq28 (MECP2) duplication
Failure to thrive, Brachycephaly DECIPHER:45
Humeroradial Synostosis
Small earlobe, Microtia OMIM:236400
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Stt3B-Cdg
Small scrotum, Cryptorchidism, Intrauterine growth retardation, Micropenis, Failure to thrive ORPHA:370924
Craniosynostosis 2
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... OMIM:604757
Bone Marrow Failure Syndrome 5
Short stature, Microcephaly, Growth delay, Hypogonadism, Testicular atrophy, Oral leukoplakia OMIM:618165
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Short stature, Hypospadias, Highly arched eyebrow, Cryptorchidism, Male pseudohermaphroditism, Mi... ORPHA:2282
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Biparietal narrowing, Cognitive impairment, Malabsorption ORPHA:935
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Brachycephaly ORPHA:85290
Orofaciodigital Syndrome Type 4
Micromelia, Hypoplastic toenails, Abnormality of the ear, Conductive hearing impairment, Aplasia/... ORPHA:2753
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Squalene Synthase Deficiency
Hypospadias, Posteriorly rotated ears, Failure to thrive in infancy, Bilateral cryptorchidism, El... OMIM:618156
Meckel Syndrome 12
Rocker bottom foot, Hypoplasia of the uterus, Low-set ears, Intrauterine growth retardation, Vagi... OMIM:616258
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Prominent occiput, Plagiocephaly, Brachycephaly, Dolichocephaly OMIM:618672
Distal Xq28 Microduplication Syndrome
Short stature, Metatarsus adductus, Microtia, Absent antihelix, Clinodactyly, Hypothyroidism, Apl... ORPHA:293939
Craniofacioskeletal Syndrome
Absent gallbladder, Short stature, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Small h... OMIM:300712
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Hypospadias, Posteriorly rotated ears, Highly arched eyebrow, Tapered finger, ... OMIM:619293
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Cryptorchidism, Intrauterine growth retardation, Micropenis, Failure to thrive OMIM:615597
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Cryptorchidism, Preaxial han... OMIM:175700
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Brachycephaly, Dolichocephaly ORPHA:272
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:98754
Birk-Aharoni Syndrome
Cryptorchidism, Micropenis, Failure to thrive, Thick eyebrow, Hearing impairment OMIM:620071
Myhre Syndrome
Short stature, Overlapping toe, Hearing impairment, Small for gestational age, Cryptorchidism, Sh... OMIM:139210
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Short stature, Single transverse palmar cre... ORPHA:915
Noonan Syndrome 5
Curly hair, Short stature, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair, ... OMIM:611553
Ichthyosis, X-Linked
Cryptorchidism, Palmar hyperlinearity, Palmoplantar keratoderma, Testicular neoplasm OMIM:308100
Monosomy 9P
Hypospadias, Thin nail, Proximal placement of thumb, Highly arched eyebrow, Abnormality of the ta... ORPHA:261112
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hyperinsuline... ORPHA:528
Barber-Say Syndrome
Absent nipple, Sparse eyelashes, Extra concha fold, Hearing impairment, Sparse eyebrow, Cryptorch... OMIM:209885
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Cryptorchidism, Bilateral talipes equinovarus, Talipes equinovarus, Fl... OMIM:618484
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Hypo... OMIM:107480
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Baraitser-Winter Syndrome 1
Short stature, Highly arched eyebrow, Postnatal growth retardation, Cryptorchidism, Duplication o... OMIM:243310
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Finger joint hypermobility, Mi... OMIM:244200
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Congenital Disorder Of Deglycosylation 2
Ulnar deviation of the hand, Sandal gap, Highly arched eyebrow, Microtia, Bilateral talipes equin... OMIM:619775
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Short stature, Hypospadias... ORPHA:163979
Gorlin Syndrome
Cryptorchidism, Frontal bossing, Hypogonadotropic hypogonadism, Brachycephaly ORPHA:377
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Recon Progeroid Syndrome
Attached earlobe, Arachnodactyly, Short stature, Proximal placement of thumb, Hyperconvex thumb n... OMIM:620370
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cryptorchidism, Hypospadias, Intrauterine growth retardation OMIM:620135
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism, Short stature, Protruding ear OMIM:619595
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:604292
Distal Monosomy 7Q36
Hypoplasia of penis, Short stature, Cryptorchidism, Symphalangism affecting the phalanges of the ... ORPHA:1636
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:129900
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly ORPHA:320385
46,Xy Sex Reversal 6
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... OMIM:613762
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Osteoglosphonic Dysplasia
Severe short stature, Rhizomelia, Failure to thrive in infancy, Cryptorchidism, Protruding ear, B... ORPHA:2645
Atelis Syndrome 1
Glue ear, Microtia OMIM:620184
Chromosome 16P13.3 Duplication Syndrome
Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Posteriorly rotated ... OMIM:613458
Leopard Syndrome 1
Scapular winging, Short stature, Hypospadias, Limited elbow movement, Posteriorly rotated ears, C... OMIM:151100
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:98793
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Frontal bossing, Brachycephaly, Obesity, Plagiocephaly, Midface retrusion OMIM:618430
2Q32Q33 Microdeletion Syndrome
Brachycephaly, Decreased testicular size ORPHA:251019
Perlman Syndrome
Hypoplasia of penis, Posteriorly rotated ears, Cryptorchidism, Abnormal pancreas morphology, Hype... ORPHA:2849
X-Linked Intellectual Disability, Pai Type
Tapered finger, Cryptorchidism, Protruding ear, Hydrocele testis, Intrauterine growth retardation ORPHA:85322
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Flat occiput, Brachycephaly, Lambdoidal craniosynostosis OMIM:618736
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Elbow dislocation, Cryptorchidism, Chronic o... ORPHA:10
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Hypospadias, Single transverse palmar crease, Tapered finger, Cryptorchidism, ... ORPHA:435938
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Crouzon Syndrome
Frontal bossing, Turricephaly, Brachycephaly, Multiple suture craniosynostosis, Midface retrusion ORPHA:207
Neurodevelopmental Disorder With Spasticity And Poor Growth
Short stature, Single transverse palmar crease, Synophrys, Nail pits, Growth delay, Large earlobe... OMIM:618076
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Brachycephaly OMIM:615031
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Brachydactyly, Failure to thrive, Short stature, Cubitus valgus, Cryptorchidism, Protruding ear, ... OMIM:300534
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Bilateral c... ORPHA:485405
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea OMIM:602390
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Diabetes mellitus, ... ORPHA:125
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface retrusion OMIM:602849
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Short stature, Hypospadias, Small for gestational age, Avascular necros... OMIM:222470
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:177904
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Noonan Syndrome 6
Curly hair, Short stature, Long eyebrows, Cryptorchidism, Sensorineural hearing impairment, Low p... OMIM:613224
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Hypop... ORPHA:245
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:177901
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Arachnodactyly, Sparse eyebrow, Cryptorchidism, Protruding ear... ORPHA:73246
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Hearing impairment, A... OMIM:123450
Microcephaly 27, Primary, Autosomal Dominant
Tapered finger, Metatarsus adductus, Cryptorchidism, Short finger, Clinodactyly of the 5th finger... OMIM:619180
Warburg Micro Syndrome 2
Small scrotum, Overlapping toe, Asymmetry of the ears, Postnatal growth retardation, Cryptorchidi... OMIM:614225
N Syndrome
Cryptorchidism, Hypospadias, Hearing impairment OMIM:310465
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism, Failure to thrive, Frontal bossing, Brachycephaly OMIM:219150
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Obesity, Postaxial polydactyly, Brachydactyly OMIM:615633
Tyshchenko Syndrome
Short stature, Posteriorly rotated ears, Supernumerary nipple, Thick hair, Cryptorchidism, Low an... OMIM:615102
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly OMIM:619972
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Short stature, Small for gestational age, Cryptorchidism, Sensorineura... OMIM:300957
Lujan-Fryns Syndrome
Macroorchidism, Brachycephaly ORPHA:776
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Autosomal Dominant Omodysplasia
Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Elbow dislocation, Cryptorchidism,... ORPHA:93328
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Cryptorchidism, Frontal upsweep of hair, Dislocation of ... OMIM:619797
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Failure to thrive, Flat occiput, Cryptorchidism, Obesity, Brachycephaly, Abn... ORPHA:96147
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Short stature, Abnormality of the hand, Hearing impairment, Cryptorchidism, Low anter... ORPHA:369891
Noonan Syndrome 8
Curly hair, Short stature, Large for gestational age, Cryptorchidism, Low-set ears, Palmoplantar ... OMIM:615355
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Failure to thrive, Single transverse palmar crease, Highly arched eyebrow, Cryptorchidism, Synoph... ORPHA:329224
Mandibulofacial Dysostosis, Guion-Almeida Type
Short stature, Proximal placement of thumb, Preaxial hand polydactyly, Microtia, Atresia of the e... OMIM:610536
Perineural Cyst
Dyspareunia, Retrograde ejaculation, Male sexual dysfunction, Impotence, Infertility, Female sexu... ORPHA:65250
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Precocious puberty, Cryptorchidism,... ORPHA:254346
Adrenomyeloneuropathy
Frontal balding, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Fine hair, Ma... ORPHA:139399
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Brachycephaly OMIM:615761
Gapo Syndrome
Frontal bossing, Short stature, Dysmenorrhea, Nephrolithiasis, Oligozoospermia, Growth delay, Hyp... ORPHA:2067
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Single transverse palmar crease, Severe sensorineural hearing impairment, Conductive hearing impa... OMIM:620186
Chromosome 10Q26 Deletion Syndrome
Scapular winging, Small scrotum, Short stature, Single transverse palmar crease, Toe syndactyly, ... OMIM:609625
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:239800
Short Stature-Micrognathia Syndrome
Small scrotum, Rhizomelia, Short stature, Broad femoral neck, Bowing of the legs, Coxa valga, Cry... OMIM:617164
X-Linked Intellectual Disability, Seemanova Type
Small for gestational age, Cryptorchidism, Macrotia, Hypogonadism ORPHA:85323
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Van Esch-O'Driscoll Syndrome
Hypogonadotropic hypogonadism, Short stature, Shyness, Protruding ear, Growth delay, Microtia, Sh... OMIM:301030
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia/Hypoplasia of the fibula,... ORPHA:2256
Congenital Neuronal Ceroid Lipofuscinosis
Low-set ears, Aplasia/Hypoplasia of the external ear ORPHA:168486
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly ... ORPHA:857
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, Cryptorchidism, Brachycephaly, Decreased body weight, Midface retrusion OMIM:300260
Donohue Syndrome
Postnatal growth retardation, Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Lar... OMIM:246200
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Precocious puberty, Brachycephaly, Plagiocephaly, Failure to thrive, M... ORPHA:261652
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Sensorineural hearing impairment, Hypogonadotropic hypogonadism OMIM:612370
Charge Syndrome
Bifid scrotum, Abnormal tibia morphology, Hypoplasia of the semicircular canal, Clinodactyly of t... ORPHA:138
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... ORPHA:251274
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Clinodactyly, Single transverse palmar crease, Low-set ears ORPHA:178148
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Small for gestational age, Craniosynostosis, Brachycephaly OMIM:613174
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Arachnodactyly, Posteriorly rotated ears, Postnatal growth retardation, Cryptorchi... OMIM:612513
Prune Belly Syndrome
Cryptorchidism, Decreased fertility, Abnormality of the uterus, Talipes equinovarus, Failure to t... ORPHA:2970
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Failure to thrive, Brachycephaly OMIM:608776
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Short stature, Shyness, Elbow dislocation, Cryptorchidism, Co... ORPHA:96264
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Short stature, Growth delay, Microtia, Atresia of the external auditory... OMIM:613309
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Single transverse palmar crease, Cryptorchidism, 2-3 toe syndactyly, Clubbing of toes, Protruding... ORPHA:3304
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Microtia, Vaginal atresia ORPHA:3301
Fanconi Anemia, Complementation Group O
Short stature, External genital hypoplasia, Proximal placement of thumb, Absent thumb, Cryptorchi... OMIM:613390
Desanto-Shinawi Syndrome
Brachycephaly, Midface retrusion OMIM:616708
Cdags Syndrome
Frontal bossing, Hypospadias, Sagittal craniosynostosis, Parietal foramina, Brachycephaly, Rectov... OMIM:603116
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Short stature, Hypospadias, ... ORPHA:1786
Blepharonasofacial Malformation Syndrome
Finger syndactyly, External ear malformation, Cryptorchidism, Abnormal eyelash morphology, Low po... ORPHA:1252
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Sparse scalp hair, Short stature, Arachnodactyly, Sparse eyelashes, Palmoplantar cutis ... ORPHA:75496
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger, Aplasia/Hypoplasia of the f... OMIM:228930
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Large hands, Long eyelas... OMIM:615009
Branchiootorenal Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:113650
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic toenails, Delayed early-childhood social milestone development, Dermatoglyphic ridges... ORPHA:99413
Mosaic Monosomy X
Hypoplastic toenails, Delayed early-childhood social milestone development, Dermatoglyphic ridges... ORPHA:99228
Monosomy X
Hypoplastic toenails, Delayed early-childhood social milestone development, Dermatoglyphic ridges... ORPHA:99226
Turner Syndrome
Hypoplastic toenails, Delayed early-childhood social milestone development, Dermatoglyphic ridges... ORPHA:881
Distal Duplication 15Q
Arachnodactyly, Camptodactyly of finger, Cryptorchidism, Abnormality of female external genitalia... ORPHA:1707
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, 1-4 toe syndactyly, Cryptorc... OMIM:617201
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Cryptorchidism OMIM:273390
Vacterl With Hydrocephalus
Microtia, third degree, Cryptorchidism, Hypoplasia of the radius, Anotia, Abnormal fallopian tube... ORPHA:3412
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impotence ORPHA:98
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Impotence, Sensorineural hearing impairment OMIM:608088
13Q12.3 Microdeletion Syndrome
Short stature, Cryptorchidism, Obesity, Camptodactyly, Chronic otitis media, Intrauterine growth ... ORPHA:412035
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Abnormal pinna morphology, Thickened helices, Anteverted ears, Cryptorchidism, Growth delay, Micr... OMIM:617641
Seckel Syndrome 1
Hypospadias, Single transverse palmar crease, Proportionate short stature, Abnormal finger flexio... OMIM:210600
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Filippi Syndrome
Finger syndactyly, Severe short stature, Short stature, Supernumerary nipple, Cryptorchidism, Apl... ORPHA:3255
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Nephritis, Pyelonephritis, Oligozoospermia OMIM:314300
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Hydrocele testis, Microtia, Foot polydactyly, Ovarian serous cy... ORPHA:276280
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Single transverse palmar crease, Hypoplastic toenails, Clinodactyly of the 5th finger, Small earl... OMIM:619522
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, Single transverse palmar crease OMIM:250951
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Failure to thrive, Absent eyelashes, Cryptorchidism, Abnormal... ORPHA:861
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Elevated circulating thyroid-stimulating hormone concentration... OMIM:101800
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Short stature, Abnormal distal phalanx morphology of fin... ORPHA:783
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Hypospadias, Broad hallux, Hearing impairment, Posteriorly rotated ears, Postna... ORPHA:439822
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Abnormal hair patte... ORPHA:920
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla... OMIM:612447
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Short stature, Hypospadias ORPHA:1762
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Femoral bowing, Sparse hair, M... OMIM:210710
Intellectual Developmental Disorder, Autosomal Dominant 47
Small for gestational age, Supernumerary nipple, Cryptorchidism, Thin eyebrow, Intrauterine growt... OMIM:617635
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Prominent antitragus, Dislocated radial head, Rhizomelia, Short stature, Spatulate thumbs, Microt... OMIM:245600
Congenital Myopathy 19
Cryptorchidism, Posteriorly rotated ears, Low-set ears, Hearing impairment OMIM:618578
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Microtia, Posteriorly rotated ears OMIM:602562
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Broad hallux, Hypospadias, Hearing impairment, Tapered finger, Cryptorchidism, Sho... OMIM:618659
Congenital Myopathy 9A
Cryptorchidism, Short stature, Obesity OMIM:618822
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Short stature, Overlapping toe, Femoral bowing, Microt... OMIM:616723
Kleefstra Syndrome 1
Hypospadias, Cryptorchidism, Brachycephaly, Obesity, Micropenis, Midface retrusion OMIM:610253
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Rocker bottom foot, Coxa valga, Cryptorchidism, Sen... OMIM:214150
Van Maldergem Syndrome 1
Short fourth metatarsal, Hypospadias, Sensorineural hearing impairment, Growth delay, Cutaneous f... OMIM:601390
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus,... OMIM:601186
Stt3A-Cdg
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive ORPHA:370921
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Short stature, Abnormality of the endo... ORPHA:166035
Martsolf Syndrome 1
Osteopathia striata, Low anterior hairline, Finger joint hypermobility, Short palm, Micropenis, A... OMIM:212720
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
King-Denborough Syndrome
Short stature, Bilateral cryptorchidism, Cryptorchidism, Low-set ears, Failure to thrive OMIM:619542
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Craniosynostosis, Brachycephaly, Skull asymmetry, Midface retrusion OMIM:601853
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Short stature, Protruding ear ORPHA:1166
Acrofacial Dysostosis, Cincinnati Type
Short stature, Anotia, Microtia, Decreased body weight, Macrotia OMIM:616462
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... ORPHA:40366
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Short stature, Microtia ORPHA:1834
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Cryptorchidism, S... OMIM:619075
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Hypospadias, Overlapping toe, Underfolded helix, Posteriorly rotated ears, Highly arche... OMIM:618316
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Cryptorchidism, Sensorineural hearing impairment, Synophrys, Intrauterine ... OMIM:615824
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Chromosome 2Q37 Deletion Syndrome
Brachycephaly, Obesity, Midface retrusion OMIM:600430
Trichothiodystrophy 3, Photosensitive
Brittle hair, Short stature, Bilateral cryptorchidism, Low-set ears, Intrauterine growth retardat... OMIM:616395
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Brachycephaly, Micropenis, Decreased testicular size OMIM:615663
Hsd10 Disease
Postnatal growth retardation, Abnormal social behavior, Hearing impairment ORPHA:391417
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Slender build, Brachycephaly ORPHA:364028
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Cryptorchidism, Sensorineural hearing impairment, Short stature ORPHA:1192
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morph... ORPHA:1307
Fragile X Tremor/Ataxia Syndrome
Impotence, Premature ovarian insufficiency, Hypothyroidism, Hearing impairment OMIM:300623
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Tapered finger, Hydrocele testis, Microtia, Talipes equinovarus, Low-set ears OMIM:613603
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Small for gestational age, Asymmetry of the ears, Bilateral cryptorchidism, Cry... OMIM:617796
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma, Short stature ORPHA:281090
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Smith-Magenis Syndrome
Brachycephaly, Increased body weight, Midface retrusion OMIM:182290
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Brachycephaly ORPHA:93262
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Growth delay, Anotia, Bilateral talipes equinovarus, Microtia, Aplas... OMIM:614083
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Short palm, Sparse hair, Absent eyebrow, Alopecia, Short stature, Unde... OMIM:268400
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Arachnodactyly, Short hallux, Highly arched eyebr... ORPHA:280
8Q12 Microduplication Syndrome
Brachycephaly ORPHA:228399
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Hearing abnormality, Cupp... ORPHA:1352
C Syndrome
Short metacarpal, Toe syndactyly, Short stature, Posteriorly rotated ears, Micromelia, Cryptorchi... OMIM:211750
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Micropeni... ORPHA:398069
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ... ORPHA:199310
Auriculocondylar Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Cleft helix, External ear malformat... ORPHA:137888
Peters-Plus Syndrome
Hypoplasia of the vagina, Bilobate gallbladder, Single transverse palmar crease, Limited elbow mo... OMIM:261540
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Intrauterine growth retardation, Short stature, Vaginal atresia OMIM:617914
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Impotence, Autonomic erectile dysfunction OMIM:169500
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Tapered finger, Cryptorchidism, Small hand, Severe postnatal growth retardation, Microtia, Low-se... OMIM:620005
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma... ORPHA:3121
Congenital Heart Defects And Ectodermal Dysplasia
Frontal bossing, Brachycephaly OMIM:617364
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Frontal balding OMIM:160900
3Mc Syndrome 3
Bifid scrotum, Short stature, Abnormal pinna morphology, Highly arched eyebrow, Cryptorchidism, C... OMIM:248340
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ambiguous genitalia, Micropenis, Brachycephaly OMIM:618142
Crouzon Syndrome
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c... OMIM:123500
Aica-Ribosuria Due To Atic Deficiency
Frontal bossing, Clitoral hypertrophy, Brachycephaly, Fused labia minora OMIM:608688
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Overlapping fingers, Short stature, Hypospadias, Rocker bottom foot, Coxa valga, Posteriorly rota... OMIM:301056
Trisomy 13
Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, Sensorineural hearing im... ORPHA:3378
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Trisomy 18P
Short stature, Abnormal pinna morphology, Highly arched eyebrow, Bilateral cryptorchidism, Abnorm... ORPHA:1715
Kapur-Toriello Syndrome
Overlapping fingers, Single transverse palmar crease, Camptodactyly of finger, Cryptorchidism, Sh... OMIM:244300
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea ORPHA:2795
Costello Syndrome
Low-set, posteriorly rotated ears, Deep-set nails, Short stature, Abnormal fingernail morphology,... ORPHA:3071
Acrocallosal Syndrome
Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Sensorineural hearing impairment, Tripha... ORPHA:36
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Brachycephaly, Plagiocephaly, Hypogonadism, Micropenis, Failure to th... ORPHA:500055
Orofacial Cleft 15
Sparse eyelashes, Single transverse palmar crease, Sparse eyebrow, Cryptorchidism, Protruding ear... OMIM:616788
Bloom Syndrome
Syndactyly, Small for gestational age, Decreased fertility in females, Postnatal growth retardati... OMIM:210900
Somatomammotropinoma
Dysmenorrhea, Synophrys, Pituitary prolactin cell adenoma, Abnormal toenail morphology, Generaliz... ORPHA:314769
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Severe postnatal growth retardation, Anteriorly displaced urethral meatus, Apla... OMIM:266810
Cornelia De Lange Syndrome 2
Brachycephaly OMIM:300590
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Clubbing, Recurrent otitis media, Conductive hearing impair... ORPHA:244
Achard Syndrome
Broad skull, Brachycephaly OMIM:100700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hypoplastic fingernail, Proportionate shortening of all digits, Tapered finger, Prominent superio... ORPHA:280633
Grant Syndrome
Frontal bossing, Brachycephaly ORPHA:2097
Cree Mental Retardation Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias, Brachycephaly OMIM:606851
Rin2 Syndrome
Sparse scalp hair, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidis... ORPHA:217335
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Hypospadias, Single transverse palmar crease, Ovotestis, Hypoplasia of the uterus,... OMIM:309801
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Supernumerary nipple, Coxa valga, Cryptorchidism, Sensori... OMIM:616580
Autosomal Dominant Spastic Paraplegia Type 12
Female sexual dysfunction, Male sexual dysfunction ORPHA:100993
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Multicystic kidney dysplasia, Intestinal malrotation, Hiatus hernia, Esophageal ... ORPHA:2538
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Rhizomelia, Short stature, Simple ear, Cryptorchidism, Fla... OMIM:602471
Obesity Due To Sim1 Deficiency
Short stature, Obesity, Increased resting energy expenditure ORPHA:369873
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Brachycephaly, Midface retrusion OMIM:615539
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Short stature, Hypospadias, Posteriorly rotated ears, Tapered finger, Cryptorchidi... OMIM:309580
Seckel Syndrome 5
Short stature, Hypospadias, Cryptorchidism, Short middle phalanx of finger, Low-set ears, Clinoda... OMIM:613823
Toriello-Carey Syndrome
Short stature, Abnormal pinna morphology, Hearing impairment, Postnatal growth retardation, Crypt... ORPHA:3338
Multiple Benign Circumferential Skin Creases On Limbs
Low-set, posteriorly rotated ears, Small scrotum, Short stature, Hypospadias, External ear malfor... ORPHA:2505
Hand-Foot-Genital Syndrome
Bifid scrotum, Proximal placement of thumb, Delayed tarsal ossification, Clinodactyly of the 5th ... OMIM:140000
Chanarin-Dorfman Syndrome
Sensorineural hearing impairment, Microtia OMIM:275630
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Failure to thrive, Short stature, Decreased respons... ORPHA:363528
Carpenter Syndrome 1
External genital hypoplasia, Sagittal craniosynostosis, Precocious puberty, Cryptorchidism, Brach... OMIM:201000
Isotretinoin-Like Syndrome
Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of t... ORPHA:2306
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Short stature, Small for gestational age, Microtia, Talipes equinovarus, Low-set ears, Failure to... OMIM:277380
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Chronic otitis media OMIM:300991
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Irregular menstruation, Obesity, P... OMIM:615986
Acromegaly
Dysmenorrhea, Synophrys, Wide penis, Pituitary prolactin cell adenoma, Abnormal toenail morpholog... ORPHA:963
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia, Micropenis, Hypospadias OMIM:618840
Vulto-Van Silfhout-De Vries Syndrome
Frontal bossing, Brachycephaly OMIM:615828
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Decreased circul... OMIM:241410
Fetal Akinesia Deformation Sequence 2
Cryptorchidism, Low-set ears OMIM:618388
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Brachycephaly ORPHA:2511
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Cohen Syndrome
Low anterior hairline, Clinodactyly of the 5th finger, Finger syndactyly, Short stature, Arachnod... ORPHA:193
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
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
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Relapsing Polychondritis
Renal insufficiency, Proteinuria, Anteriorly placed anus, Hematuria, Biparietal narrowing ORPHA:728
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... OMIM:616113
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Talipes equinovarus, Low-set ears, Camptodactyly, Decreased circulating T4 concen... OMIM:608104
Smith-Magenis Syndrome
Frontal bossing, Failure to thrive in infancy, Precocious puberty, Brachycephaly, Obesity, Midfac... ORPHA:819
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistula, Overfolded helix OMIM:617466
Rahman Syndrome
Cryptorchidism, High anterior hairline, Talipes equinovarus, Camptodactyly OMIM:617537
Ogden Syndrome
Broad hallux, Postnatal growth retardation, Cryptorchidism, Fine hair, Low-set ears, Macrotia, Ap... ORPHA:276432
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Hypospadias, Brachycephaly, Shawl scrotum OMIM:239710
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias, Genu valgum ORPHA:1381
Leukocyte Adhesion Deficiency Type Ii
Overlapping toe, Short stature, Small for gestational age, Conductive hearing impairment, Low ant... ORPHA:99843
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Brachycephaly OMIM:612379
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Protruding ear, Gonadal ... OMIM:618820
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Cerebrofacioarticular Syndrome
Syndactyly, Short stature, Hypospadias, Absence of pubertal development, Microtia, Talipes equino... ORPHA:314679
Autosomal Recessive Amelia
Hypoplasia of penis, Small scrotum, Cryptorchidism, Amelia involving the upper limbs, Acromelia o... ORPHA:1027
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Protruding ear, Genu valgum, Low posterior hairline, Low-set ears, Shawl scrotum,... ORPHA:1778
X-Linked Adrenoleukodystrophy
Increased circulating ACTH level, Impotence, Progressive hearing impairment, Adrenal insufficienc... ORPHA:43
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Brachycephaly, Labial hypoplasia, Micropenis OMIM:620073
Nablus Mask-Like Facial Syndrome
Single transverse palmar crease, Low anterior hairline, Sparse hair, Small earlobe, Micropenis, S... OMIM:608156
Whipple Disease
Cachexia, Hypothyroidism, Erectile dysfunction ORPHA:3452
1P36 Deletion Syndrome
Hypoplasia of penis, Conductive hearing impairment, Clinodactyly of the 5th finger, Hypothyroidis... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Hypospadias, ... OMIM:300998
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Brachycephaly, Hypoplastic labia majora, Lambdoidal craniosynostosis, Midface re... OMIM:207410
Harrod Syndrome
Arachnodactyly, Hypospadias, Cryptorchidism, Protruding ear, Intrauterine growth retardation, Fai... ORPHA:2115
Yunis-Varon Syndrome
Single transverse palmar crease, Short metatarsal, Palmoplantar hyperkeratosis, Protruding ear, A... OMIM:216340
Acrofrontofacionasal Dysostosis
Bifid scrotum, Hypospadias, Brachycephaly, Midface retrusion ORPHA:1784
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Small scrotum, Camptodactyly of finger, Highly arched eyebrow,... ORPHA:1968
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Low-set ears, Intr... ORPHA:2470
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Micropenis, Hypospadias, Brachycephaly OMIM:616897
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Premature graying of hair, Conducti... OMIM:113620
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Growth delay, Talipes equinovarus,... ORPHA:250999
Chromosome 1P35 Deletion Syndrome
Short stature, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Increa... OMIM:617930
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Microtia OMIM:619817
Chopra-Amiel-Gordon Syndrome
Brachycephaly, Midface retrusion OMIM:619504
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Ataxia, Hydroureter, Growth delay, Hyp... OMIM:222300
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Absent nipple, Highly arched eyebrow, Cryptorchidism, Male urethral meatus stenosis, Hypoplastic ... OMIM:616001
Ritscher-Schinzel Syndrome 4
Plagiocephaly, Cryptorchidism, Micropenis, Brachycephaly OMIM:619435
Oculocerebrofacial Syndrome, Kaufman Type
Flat occiput, Failure to thrive, Brachycephaly, Clitoral hypertrophy ORPHA:2707
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Single transverse palmar crease, Large for gestational age, Tibial b... ORPHA:96334
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Single transverse palmar crease, Cubitus valgus, Cryptorchidism, Metatarsus ad... OMIM:214110
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Supernumerary nipple, Postnatal growth retardation, Cryptorch... OMIM:263750
Noonan Syndrome 4
Curly hair, Short stature, Posteriorly rotated ears, Large for gestational age, Sparse eyebrow, C... OMIM:610733
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
Lacrimoauriculodentodigital Syndrome
Conductive hearing impairment, Abnormal salivary gland morphology, Abnormal digit morphology, Syn... ORPHA:2363
Lacrimoauriculodentodigital Syndrome 2
Cupped ear, Microtia, Hearing impairment OMIM:620192
Noonan Syndrome 13
Overlapping toe, Posteriorly rotated ears, Highly arched eyebrow, Tapered finger, Metatarsus addu... OMIM:619087
Xq12-Q13.3 Duplication Syndrome
Decreased serum insulin-like growth factor 1, Short stature, Cryptorchidism, 2-3 toe syndactyly, ... ORPHA:314389
Isolated Hemihyperplasia
Cryptorchidism ORPHA:2128
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Cryptorchidism, Hypoplastic male external genitalia OMIM:618823
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Growth delay, Ambiguous genitalia ORPHA:168593
Genitopatellar Syndrome
Sparse scalp hair, Small scrotum, Short stature, Cryptorchidism, Patellar aplasia, Fine hair, Rad... ORPHA:85201
Mirage Syndrome
Overlapping fingers, Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Hypospadi... OMIM:617053
Craniodigital-Intellectual Disability Syndrome
Brachycephaly ORPHA:1514
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy, Nail dystrophy OMIM:613987
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Seizures-Scoliosis-Macrocephaly Syndrome
Abnormality of the outer ear, Cryptorchidism, Overlapping toe ORPHA:466926
Neurofaciodigitorenal Syndrome
Abnormal distal phalanx morphology of finger, Short stature, External ear malformation, Cryptorch... ORPHA:2673
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Young-Onset Parkinson Disease
Female sexual dysfunction, Male sexual dysfunction, Impaired social interactions ORPHA:2828
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Erectile dysfunction ORPHA:206448
Sanjad-Sakati Syndrome
Hypoparathyroidism, Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Postna... ORPHA:2323
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Brachycephaly, Micropenis, Decreased testicular size OMIM:614222
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Arachnodactyly, Cryptorchidism, Protruding ear, Abdominal obesity, Talipes equinovarus, Camptodac... OMIM:301039
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:369929
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Camptodactyly of finger, Cryptorchidism, Growth delay, Low-set ears, Intrauterine gr... ORPHA:1194
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypoplastic toenails, Cryptorchidism, Sensorineural hearing impairment, Drumstick terminal phalan... OMIM:612938
Hennekam-Beemer Syndrome
Short stature, Camptodactyly of finger, Conductive hearing impairment, Microtia, Clinodactyly of ... ORPHA:2135
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Frontal bossing, Brachycephaly, Obesity OMIM:617296
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly ORPHA:53271
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit... ORPHA:2975
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Abnormal pinna morphology, Septate vagina, Postaxial polydactyly, Preaxial po... OMIM:617925
Ritscher-Schinzel Syndrome 1
Prominent occiput, Hypospadias, Brachycephaly OMIM:220210
Culler-Jones Syndrome
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Postaxial polydactyly,... OMIM:615849
Allan-Herndon-Dudley Syndrome
Small for gestational age, Short stature, Abnormality of thyroid physiology, Failure to thrive in... ORPHA:59
Hypomandibular Faciocranial Dysostosis
Craniosynostosis, Brachycephaly, Trigonocephaly, Abnormal morphology of female internal genitalia... ORPHA:1790
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Pos... OMIM:300963
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Abnormality of the endocrine system, Cryptorchidism, Sensorineural heari... ORPHA:464288
Stankiewicz-Isidor Syndrome
Hypospadias, Absent thumb, Cryptorchidism, Short thumb, 2-3 toe syndactyly, Pineal cyst, Low-set ... OMIM:617516
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Genu valgum, Abdominal obesity, Hypoplasia of the ovary, Intrauterine gr... OMIM:619321
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Spa... ORPHA:3103
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small scrotum, Rhizomelia, Hypospadias, Short femur, Sandal gap, Abnormal pinna mo... OMIM:607143
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Conductive hearing impairment, Sensorineural heari... OMIM:618500
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Hypospadias, Highly arched eyebrow, Cryptorchidism, Congenital sensorineural h... ORPHA:500159
Snijders Blok-Fisher Syndrome
Cryptorchidism, Cupped ear, Protruding ear OMIM:618604
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad hallux, External genital hypoplasia, Postnatal growth retardation, Cryptorchidism, Slender ... ORPHA:251028
Osteopathia Striata With Cranial Sclerosis
Failure to thrive, Arachnodactyly, Short stature, Posteriorly rotated ears, Conductive hearing im... OMIM:300373
Noonan Syndrome 14
Curly hair, Scapular winging, Short stature, Posteriorly rotated ears, Sparse eyebrow, Cryptorchi... OMIM:619745
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Penoscrotal transposition,... OMIM:619148
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Single transverse palmar crease, Supernumerary nipple, Rocker bottom f... OMIM:619951
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Genitopalatocardiac Syndrome
Brachydactyly, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Postaxial hand polydactyl... ORPHA:2075
Chromosome 1P36 Deletion Syndrome, Distal
Synophrys, Conductive hearing impairment, Clinodactyly of the 5th finger, Thickened helices, Hypo... OMIM:607872
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Aplasia of the ulna, Cr... ORPHA:2879
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Cryptorchidism, Uterus didelphys, Intestinal dup... ORPHA:1756
Arthrogryposis, Distal, Type 2A
Flexion contracture of finger, Failure to thrive, Small for gestational age, Rocker bottom foot, ... OMIM:193700
Alagille Syndrome
Cryptorchidism, Failure to thrive, Frontal bossing, Brachycephaly ORPHA:52
Nicolaides-Baraitser Syndrome
Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int... OMIM:601358
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Coronal hypospadias, Brachycephaly OMIM:619859
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia OMIM:164180
Kagami-Ogata Syndrome
Coxa valga, Long fingers, Microtia, Limb undergrowth, Frontal hirsutism OMIM:608149
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Short metacarpal, Toe syndactyly, Microtia, third degree, Hypoplastic fingernail,... OMIM:200110
Qazi-Markouizos Syndrome
Cryptorchidism, Delayed ossification of carpal bones, Small nail, Tapered finger ORPHA:3010
Micro Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplasti... ORPHA:2510
Smith-Kingsmore Syndrome
Curly hair, Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Cryptorchidi... OMIM:616638
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Mullegama-Klein-Martinez Syndrome
Short stature, Curly eyelashes, Sensorineural hearing impairment, Low anterior hairline, Absent s... OMIM:301022
Hatipoglu Immunodeficiency Syndrome
Failure to thrive, Hypospadias, Proportionate short stature, Cryptorchidism, Premature graying of... OMIM:620331
Alg9-Cdg
Low-set, posteriorly rotated ears, Ulnar deviation of the hand, Rhizomelia, Flared metaphysis, Lo... ORPHA:79328
Al Kaissi Syndrome
Brachycephaly, Decreased body weight OMIM:617694
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Anterior plagiocephaly, Frontal bossing, Brachycephaly ORPHA:163649
Frontonasal Dysplasia 2
Craniosynostosis, Bilateral cryptorchidism, Parietal foramina, Calvarial skull defect, Brachyceph... OMIM:613451
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Brachycephaly, Ambiguous g... OMIM:257300
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Short stature, Cryptorchidism, Sensorineural hearing impairmen... ORPHA:1131
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Prominent fin... OMIM:277590
Global Developmental Delay With Speech And Behavioral Abnormalities
Supernumerary nipple, Precocious puberty, Cryptorchidism, Recurrent otitis media, Hearing impairment OMIM:619243
Noonan Syndrome 9
Sparse eyebrow, Cryptorchidism, Curly hair, Short stature OMIM:616559
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Brachycephaly OMIM:263210
Cog5-Cdg
Short stature, Camptodactyly of finger, Posteriorly rotated ears, Cryptorchidism, Sensorineural h... ORPHA:263487
Bainbridge-Ropers Syndrome
Thick eyebrow, Ulnar deviation of the hand, Arachnodactyly, Posteriorly rotated ears, Supernumera... OMIM:615485
Lacrimoauriculodentodigital Syndrome 3
Absent eyelashes, Short thumb, Partial duplication of thumb phalanx, Cupped ear, Microtia, Hearin... OMIM:620193
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Cryptorchidism, Short thumb, Synophrys, Dislocated radial... ORPHA:401935
Ellis Van Creveld Syndrome
Micromelia, Hypoplastic toenails, Epispadias, Neonatal short-limb short stature, Abnormality of t... ORPHA:289
Sifrim-Hitz-Weiss Syndrome
Hypogonadotropic hypogonadism, Short stature, Tapered finger, Cryptorchidism, Cupped ear, Short f... OMIM:617159
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Postaxial hand polydac... ORPHA:1655
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Absen... OMIM:227650
Marden-Walker Syndrome
Hypospadias, Arachnodactyly, Postnatal growth retardation, Cryptorchidism, Radioulnar synostosis,... OMIM:248700
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Postnatal growth retardation, Cryptorchidism, Int... ORPHA:494344
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Severe short stature, Arachnodactyly, Small scrotum, Long palm, Tapered finger... ORPHA:2215
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Highly arched eyebrow, Postnatal growth retardation, Cryptorchidism, Ulna... OMIM:619135
Cerebrooculonasal Syndrome
Hypoplasia of penis, Brachycephaly ORPHA:66625
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Arthrogryposis, Distal, Type 3
Short stature, Single transverse palmar crease, Overlapping toe, Camptodactyly of finger, Cryptor... OMIM:114300
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Single transverse palmar crease, Fibular aplasia OMIM:218550
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Brachycephaly OMIM:616083
Oculoskeletodental Syndrome
Short stature, Small for gestational age, Cryptorchidism, Elbow flexion contracture, Low anterior... OMIM:618440
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Failure to thrive, Short stature, Posteriorly rotated ears, Highly arched eyebrow, Postnatal grow... OMIM:613563
Norrie Disease
Failure to thrive, Diabetes mellitus, Cachexia, Cryptorchidism, Sensorineural hearing impairment,... ORPHA:649
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms, Recurrent otitis media, Chronic otitis media OMIM:612444
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Growth delay, Ambiguous genitalia, male... OMIM:608800
Pure Autonomic Failure
Impotence, Abnormality of circulating catecholamine level ORPHA:441
Microphthalmia, Syndromic 8
Cryptorchidism, Split foot OMIM:601349
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Severe short stature, Posteriorly rotated ears, Micromelia, Cryptorchid... OMIM:224410
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Short stature, Arachnodactyly, Asymmetry of the ears, Sparse eyebrow, Cryp... ORPHA:3063
Macs Syndrome
Alopecia, Hypergonadotropic hypogonadism, Single transverse palmar crease, Short stature, Sparse ... OMIM:613075
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Synophrys, ... OMIM:610759
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis OMIM:611812
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Short stature, Avascular necrosis of the capital femoral epiphysis, Cryptorchidism, Fin... OMIM:613990
2Q31.1 Microdeletion Syndrome
Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, Short palm, Cl... ORPHA:251014
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Sensorineural hearing impairment, Diabetes mellitus, Short stature OMIM:249270
Chromosome 17Q12 Deletion Syndrome
Long toe, Short stature, Hyperconvex nail, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism,... OMIM:614527
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Hyperthyroidism, Hypospadias, Toe syndacty... ORPHA:2008
Ayme-Gripp Syndrome
Sparse scalp hair, Short stature, Posteriorly rotated ears, Hearing impairment, Tapered finger, S... OMIM:601088
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Brachycephaly ORPHA:404440
Osteoglophonic Dysplasia
Hypoplastic toenails, Short metatarsal, Short palm, Short phalanx of finger, Broad metacarpals, S... OMIM:166250
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Hypoplastic toenails, Low anterior... ORPHA:235
Cerebellofaciodental Syndrome
Short stature, Single transverse palmar crease, Tapered finger, Sparse eyebrow, Cryptorchidism, S... OMIM:616202
Spinocerebellar Ataxia Type 42
Vertigo, Impotence ORPHA:458803
Hallermann-Streiff Syndrome
Frontal bossing, Small for gestational age, Cryptorchidism, Scaphocephaly, Brachycephaly, Thin ca... OMIM:234100
Amyloidosis, Hereditary, Transthyretin-Related
Impotence, Sensorineural hearing impairment, Hearing impairment OMIM:105210
Tarp Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Small earlobe, Single transverse palmar cre... ORPHA:2886
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Crypto... ORPHA:1512
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, External ear malformation, Cry... ORPHA:251066
Igg4-Related Retroperitoneal Fibrosis
Hashimoto thyroiditis, Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence, Varicocele ORPHA:49041
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Macrotia OMIM:618504
Intellectual Developmental Disorder, Autosomal Dominant 66
Plagiocephaly, Brachycephaly OMIM:619910
Rothmund-Thomson Syndrome Type 1
Patellar hypoplasia, Sparse hair, Short phalanx of finger, Hypothyroidism, Genu varum, Short meta... ORPHA:221008
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Toe syndactyly, Rhizomelia, Short stature, Hypospadias, Microm... ORPHA:709
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Abnormal palm... OMIM:214800
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media OMIM:618948
Pitt-Hopkins Syndrome
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... OMIM:610954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Microtia, Atresia of the external auditory canal, Low-set ears, Hypoplastic male ... OMIM:236670
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Finger syndactyly, Short stature, Hypospadias, Camptodactyly o... ORPHA:2311
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly OMIM:218000
Treacher Collins Syndrome 1
Sparse lower eyelashes, Cryptorchidism, Preauricular hair displacement, Microtia, Abnormal paroti... OMIM:154500
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Hypoplasia of penis, Small scrotum, Short stature, Camptodactyly of finger, Cr... ORPHA:2990
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Trisomy 20P
Frontal bossing, Hypospadias, Cryptorchidism, Brachycephaly, Plagiocephaly, Dolichocephaly, Macro... ORPHA:261318
Oculocerebrocutaneous Syndrome
Finger syndactyly, Alopecia, Abnormal fingernail morphology, Hearing impairment, Aplasia/Hypoplas... ORPHA:1647
Gaucher Disease, Perinatal Lethal
Intrauterine growth retardation, Microtia, Low-set ears, Decreased body weight OMIM:608013
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Midface retrusion, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Short stature, Postnatal growt... OMIM:616263
Menke-Hennekam Syndrome 1
Short ear, Prominent inferior crus of antihelix, Overlapping toe, Broad hallux, Sandal gap, Crypt... OMIM:618332
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Failure to thrive, Short stature, Hypospadias, Arachnodactyly, Coxa valga, Elbow dislocation, Cry... OMIM:620083
Chromosome 18Q Deletion Syndrome
Toe syndactyly, Short stature, Decreased response to growth hormone stimulation test, Hypospadias... OMIM:601808
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Posteriorly rotated ears, Micromelia, Bowing of the legs, Cryptorchidism, C... ORPHA:1865
Frontonasal Dysplasia 3
Brachycephaly OMIM:613456
Distal Duplication 5Q
Hypoplasia of the ulna, Short stature, Hypospadias, Absent thumb, Cryptorchidism, Hypoplasia of t... ORPHA:96097
Kbg Syndrome
Syndactyly, Short stature, Single transverse palmar crease, Posteriorly rotated ears, Cryptorchid... OMIM:148050
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Brachycephaly OMIM:619244
3Mc Syndrome
Abnormal pinna morphology, Supernumerary nipple, Hearing impairment, Bilateral cryptorchidism, Po... ORPHA:293843
Larsen Syndrome
Finger syndactyly, Brachydactyly, Short stature, Short nail, Cryptorchidism, Accessory carpal bon... ORPHA:503
Chops Syndrome
Curly hair, Brachydactyly, Short stature, Thick hair, Cryptorchidism, Synophrys, Obesity, Coarse ... OMIM:616368
Turnpenny-Fry Syndrome
Sparse scalp hair, Overlapping toe, Tapered finger, Long fingers, Adducted thumb, Small hand, Pro... OMIM:618371
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Cryptorchidism, Hypothyroidism OMIM:619908
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
Diamond-Blackfan Anemia
Short stature, Hypospadias, Small for gestational age, Absent thumb, Short thumb, Partial duplica... ORPHA:124
Recessive X-Linked Ichthyosis
Cryptorchidism ORPHA:461
Mosaic Trisomy 8
Short stature, Camptodactyly of finger, Abnormal pinna morphology, Cryptorchidism, Patellar aplas... ORPHA:96061
Scalp-Ear-Nipple Syndrome
Abnormal fingernail morphology, Underdeveloped antitragus, Abnormal antihelix morphology, Microti... ORPHA:2036
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Cryptorchidism, Polydactyly ORPHA:531151
Hydrolethalus
Low-set, posteriorly rotated ears, Micromelia, Cryptorchidism, Postaxial hand polydactyly, Low-se... ORPHA:2189
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Recurrent o... OMIM:614874
Kagami-Ogata Syndrome
Large for gestational age, Postnatal growth retardation, Coxa valga, Microtia, Frontal hirsutism ORPHA:254519
Momo Syndrome
Frontal bossing, Brachycephaly, Obesity OMIM:157980
Mckusick-Kaufman Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Cryptorchidism, Postaxial hand polydactyly, ... ORPHA:2473
Carney Complex
Neoplasm of the stomach, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, L... ORPHA:1359
Koolen-De Vries Syndrome
Hypopigmentation of hair, Short stature, Hypospadias, Arachnodactyly, Abnormality of hair texture... ORPHA:96169
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Fetal Akinesia Deformation Sequence
Posteriorly rotated ears, Camptodactyly of finger, Cryptorchidism, Intrauterine growth retardatio... ORPHA:994
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Trigonocephaly, Scaphocephaly, Brachycephaly, Sagittal craniosynostosis ORPHA:459061
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Short stature, De... ORPHA:90695
Distal Duplication 17Q
Hallux valgus, Low-set, posteriorly rotated ears, Severe short stature, Rhizomelia, Short stature... ORPHA:3379
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Posteriorly rotated ears, Cryptorchidism, Abnormal femur morphology, Upper limb asymmetry, Abnorm... ORPHA:2063
Mend Syndrome
Failure to thrive, Broad hallux, Short stature, Overlapping toe, Abnormal auditory evoked potenti... ORPHA:401973
Sotos Syndrome
Posteriorly rotated ears, Sparse eyebrow, Cryptorchidism, Long metacarpals, Increased body weight... OMIM:117550
Apert Syndrome
Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Brachycephaly, Acrobrachycephaly, La... OMIM:101200
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Failure to thrive, Short stature, Anterior p... OMIM:151050
Kury-Isidor Syndrome
Frontal bossing, Brachycephaly OMIM:619762
Down Syndrome
Brachycephaly, Decreased fertility, Obesity ORPHA:870
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Brachycephaly, Craniosynostosis ORPHA:2163
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Wilson Disease
Abnormality of the hand, Abnormality of the menstrual cycle, Increased body weight, Weight loss, ... ORPHA:905
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Cooper-Jabs Syndrome
Frontal bossing, Brachycephaly ORPHA:1488
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Short stature, Cryptorchidism, Sensorineural hearing impairme... ORPHA:85321
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tibial bowing, Short phalanx of finger, Bilateral single transverse palmar creases, Dislocated ra... OMIM:143095
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Larsen-Like Syndrome
Frontal bossing, Brachycephaly OMIM:608545
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Small scrotum, Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasi... ORPHA:264200
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Posteriorly rotated ears, Supernumerary nipple, Cryptorchidism, Synophrys, Low posterior hairline... OMIM:618929
Limb-Mammary Syndrome
Syndactyly, Alopecia, Absent nipple, Toe syndactyly, Sparse eyebrow, 3-4 finger cutaneous syndact... ORPHA:69085
Angelman Syndrome
Brachycephaly, Flat occiput, Obesity OMIM:105830
Treacher Collins Syndrome 2
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia OMIM:613717
Trisomy 1Q
Toe syndactyly, Small scrotum, Arachnodactyly, Camptodactyly of finger, Hypoplastic toenails, Cry... ORPHA:261344
Nabais Sa-De Vries Syndrome, Type 1
Brachycephaly OMIM:618828
Cutis Laxa, Autosomal Recessive, Type Iiib
Posteriorly rotated ears, Cryptorchidism, Prominent ear helix, Elbow flexion contracture, Fine ha... OMIM:614438
Triploidy
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Hypospadias, Cryptorch... ORPHA:3376
2P15P16.1 Microdeletion Syndrome
Brachycephaly, Failure to thrive, Hypogonadism, Decreased testicular size ORPHA:261349
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Split hand, Clubbing, Growth delay, Low-set ears, Shawl scrotum, Hyp... OMIM:600460
Kleefstra Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Obesity, Brachycephaly, Micropenis ORPHA:261494
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Cleft palate, Oligozoospermia, Hydronephrosis, Horseshoe kidn... ORPHA:3310
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Brachycephaly, Craniosynostosis ORPHA:83
Chromosome 6Pter-P24 Deletion Syndrome
Frontal bossing, Brachycephaly, Midface retrusion OMIM:612582
Osteopathia Striata-Cranial Sclerosis Syndrome
Frontal bossing, Flat occiput, Brachycephaly, Facial hyperostosis, Thickened calvaria ORPHA:2780
Tatton-Brown-Rahman Syndrome
Proportionate short stature, Cryptorchidism, Short toe, Obesity, Widely spaced toes, Neuroendocri... ORPHA:404443
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Short stature, Hypospadias, Small for gestational age, Failure to thrive in infancy... OMIM:618891
Periventricular Nodular Heterotopia 9
Posteriorly rotated ears, Single transverse palmar crease, Tapered finger, Synophrys, Microtia, S... OMIM:618918
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Brachycephaly, Lambdoidal craniosynostosis, Large for gestational age OMIM:615398
Martin-Probst Syndrome
Bifid scrotum, Short stature, Cryptorchidism, Sensorineural hearing impairment, Chordee, Hypoplas... OMIM:300519
Koolen-De Vries Syndrome
Failure to thrive, Fair hair, Short stature, Small for gestational age, Abnormality of hair textu... OMIM:610443
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Syndactyly ORPHA:404451
Endocrine-Cerebroosteodysplasia
Small scrotum, Single transverse palmar crease, Adrenal hypoplasia, Micromelia, Preaxial polydact... OMIM:612651
Momo Syndrome
Frontal bossing, Brachycephaly, Obesity, Large for gestational age ORPHA:2563
Distal Deletion 15Q
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Finger clinodactyly, Micropenis, S... ORPHA:1596
Galloway-Mowat Syndrome
Short stature, Camptodactyly of finger, Hypoplasia of the ear cartilage, Intrauterine growth reta... ORPHA:2065
Mesomelic Dysplasia, Nievergelt Type
Brachycephaly, Dolichocephaly ORPHA:2633
Schinzel-Giedion Syndrome
Tibial bowing, Micropenis, Streak ovary, Hypospadias, Abnormal cochlea morphology, Abnormal helix... ORPHA:798
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Sensorineural hearing impairment,... ORPHA:139471
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Mixed hearing impairment, Short stature, Hearing impairment, Cryptorchidism, Parti... OMIM:616331
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Posteriorly rotated ears, Sparse eyebrow, Cryptorchidism, Long fingers... OMIM:617557
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Synophrys, Low anterior hairline, A... ORPHA:199
Baller-Gerold Syndrome
Bicoronal synostosis, Turricephaly, Severe short stature, Short stature, Sagittal craniosynostosi... OMIM:218600
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Short stature, Cryptorchidism, Clinodactyly, Sensorineural hearing impairment,... OMIM:616541
Ohdo Syndrome, Sbbys Variant
Hypospadias, Posteriorly rotated ears, Cryptorchidism, Low-set ears, Long thumb, Hypothyroidism, ... OMIM:603736
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Abnormal pinna morphology, Supernumerary nipple, Cryptorchidism, Contracture of the ... OMIM:618109
Monosomy 18P
Brachycephaly ORPHA:1598
Pfeiffer Syndrome Type 1
Brachycephaly, Bicoronal synostosis, Midface retrusion ORPHA:93258
Ellis-Van Creveld Syndrome
Hypospadias, Cryptorchidism, Epispadias, Capitate-hamate fusion, Postaxial hand polydactyly, Genu... OMIM:225500
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Conductive hearing impairment, Stenosis of the external auditory canal, Anotia, Atresia of the ex... OMIM:608257
Vacterl/Vater Association
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Low-set, posteriorly rotated ears, Hypospa... ORPHA:887
Fucosidosis
Failure to thrive, Brachycephaly ORPHA:349
Scarf Syndrome
Bifid scrotum, Low-set, posteriorly rotated ears, Cryptorchidism, Perineal hypospadias, Low poste... ORPHA:3134
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Brachycephaly, Shawl scrotum ORPHA:456312
Cockayne Syndrome Type 2
Hearing impairment, Cryptorchidism, Male hypogonadism, Macrotia, Intrauterine growth retardation ORPHA:90322
Coccidioidomycosis
Abnormal sperm morphology, Renal insufficiency, Abnormality of the endocrine system, Broad skull,... ORPHA:228123
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Short stature, Posteriorly rotated ears, Large for gestational age... OMIM:607721
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res... ORPHA:273
De Barsy Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, Coxa vara, Large earlobe, Talipes eq... ORPHA:2962
Fanconi Anemia, Complementation Group P
Short stature, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, Growth delay,... OMIM:613951
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Cryptorchidism, Split hand, Hypo... ORPHA:1300
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Impotence, Erectile dysfunction, Sensorineural hearing impai... ORPHA:99027
Foix-Alajouanine Syndrome
Female sexual dysfunction, Male sexual dysfunction ORPHA:79093
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Absent thumb, Absent ra... OMIM:600901
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Short stature, Cryptorchidism, Sensorineural hearing impairment, Micro... OMIM:619847
Pontocerebellar Hypoplasia, Type 7
Single transverse palmar crease, Cryptorchidism, Synophrys, Low-set ears, Ambiguous genitalia, Mi... OMIM:614969
Mycophenolate Mofetil Embryopathy
Hypoplastic toenails, Microtia, Anotia, Foot polydactyly, Atresia of the external auditory canal,... ORPHA:268249
Bone Marrow Failure Syndrome 3
Metaphyseal dysplasia, Short stature, Pancreatic steatosis, Cryptorchidism, Cupped ear, Nail dyst... OMIM:617052
Zellweger Syndrome
Hypospadias, Short stature, External ear malformation, Cryptorchidism, Sensorineural hearing impa... ORPHA:912
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Short stature, Hypospadias, Arachnodactyly, Sandal gap, Cryptorchi... OMIM:617602
Hamamy Syndrome
Hypoparathyroidism, Long toe, Syndactyly, Sparse eyelashes, Tapered finger, Sparse eyebrow, Crypt... OMIM:611174
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Midface retrusion OMIM:613849
Recombinant 8 Syndrome
Small scrotum, Camptodactyly of finger, Hearing impairment, Abnormal hair morphology, Cryptorchid... ORPHA:96167
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Sandal gap, Supernumerary nipple, Cryptorchidism, Abnormal fibula morphology... ORPHA:1812
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Short stature, Cryptorchidism, Sensorineural hearing impair... ORPHA:250989
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased r... ORPHA:177907
Frontofacionasal Dysplasia
Brachycephaly, Midface retrusion ORPHA:1791
Craniofrontonasal Syndrome
Ridged nail, Split nail, Brachydactyly, Toe syndactyly, Short stature, Hypospadias, Broad hallux,... OMIM:304110
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid... ORPHA:3157
Scarf Syndrome
Bifid scrotum, Posteriorly rotated ears, Cryptorchidism, Low anterior hairline, Perineal hypospad... OMIM:312830
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Turricephaly, Plagiocephaly, Brachycephaly OMIM:613776
Acromelic Frontonasal Dysplasia
Cryptorchidism, Brachycephaly ORPHA:1827
Distal Deletion 10Q
Frontal bossing, Failure to thrive, Brachycephaly, Craniosynostosis ORPHA:96148
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Short stature, Hypospadias, Single transverse palmar crease, H... ORPHA:96121
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure... ORPHA:3339
Spinocerebellar Ataxia Type 8
Impotence ORPHA:98760
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Finger syndactyly, Short stature, Hypospadias, Camptodactyly o... ORPHA:568
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Frontal bossing, Broad-based gait, Small scrotum, Microcephaly, Dolichocephaly, Hair-pulling, Sca... OMIM:620330
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Low-set, posteriorly rotated ears ORPHA:1237
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Developmental And Epileptic Encephalopathy 95
Short fourth metatarsal, Brachydactyly, Posteriorly rotated ears, Single transverse palmar crease... OMIM:618143
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Short stature, Single transverse palmar crease, Long pal... OMIM:309583
Spondyloocular Syndrome
Long toe, Arachnodactyly, Unilateral cryptorchidism, Short stature, Femur fracture, Overlapping t... OMIM:605822
Richieri-Costa/Guion-Almeida Syndrome
Brachycephaly OMIM:268850
Den Hoed-De Boer-Voisin Syndrome
Overweight, Brachycephaly, Obesity, Decreased body weight, Midface retrusion OMIM:619229
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Synophrys, Otitis media... OMIM:122470
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly OMIM:109120
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, G... OMIM:614230
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Hypogonadotropic hypogonadism, Absent tragus, Abnormal pinna morphology, Cryptorchid... OMIM:603457
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
9P13 Microdeletion Syndrome
Precocious puberty, Brachycephaly, External genital hypoplasia ORPHA:324313
Trisomy 8Q
Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, ... ORPHA:1752
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism, 2-3 finger syndactyly ORPHA:1338
Pitt-Hopkins Syndrome
Single transverse palmar crease, Supernumerary nipple, Tapered finger, Postnatal growth retardati... ORPHA:2896
Wieacker-Wolff Syndrome, Female-Restricted
Brachycephaly OMIM:301041
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Synostosis of carpal bones, Low-set, pos... ORPHA:221120
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Hypospadias, Single transverse palmar crease, Adrenal hypoplasia, Ro... OMIM:214100
Sandhoff Disease
Impotence OMIM:268800
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Brachycephaly, Frontal bossing, Obesity OMIM:616078
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Short stature, Supernumerary nipple, Tapered finger, Hypoplastic toenails, Cryptorchidism, Short ... OMIM:616728
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Palmoplantar cutis gyrata, Cryptorchidism, Hearing abnormality, Aplasia/Hypoplasia... ORPHA:1555
Lesch-Nyhan Syndrome
Short stature, Nephrolithiasis, Hyperuricosuria, Choreoathetosis, Nephrocalcinosis, Testicular at... OMIM:300322
9Q33.3Q34.11 Microdeletion Syndrome
Small scrotum, Cryptorchidism, Brachycephaly, Plagiocephaly, Micropenis ORPHA:495818
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Syndactyly, Cryptorchidism, Broad palm, Hypoplastic nipples, Clinodactyly of the 5th finger, Macr... OMIM:618505
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Single transverse palmar crease, T... ORPHA:444072
Menkes Disease
Brachycephaly OMIM:309400
Contractural Arachnodactyly, Congenital
Frontal bossing, Scaphocephaly, Brachycephaly, Dolichocephaly OMIM:121050
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Low-set, posteriorly rotated ears, Short stature, Cryptorchidism, Growth delay, Brachydactyly ORPHA:457193
Acrocallosal Syndrome
Clinodactyly of the 5th finger, Micropenis, Finger syndactyly, Hypospadias, Tapered finger, Crypt... OMIM:200990
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Thyroid lymphangiectasia, Cryptorchidism, Sensorineural hearin... OMIM:235510
Oculodentodigital Dysplasia, Autosomal Recessive
Frontal bossing, Failure to thrive, Brachycephaly OMIM:257850
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Sex reversal, Growth delay, A... ORPHA:139466
Hajdu-Cheney Syndrome
Thick eyebrow, Short stature, Hypospadias, Short nail, Cryptorchidism, Synophrys, Foot acroosteol... OMIM:102500
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Cryptorchidism, Sensorineural hearing impairment, Premature grayi... OMIM:613266
Robinow Syndrome, Autosomal Recessive 1
Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocate... OMIM:268310
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Short stature, Bilateral cryptorchidism, Sensorineural hearing imp... ORPHA:2326
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Posteriorly rotated ears, Single transverse palmar crease, Cryptorchidism, Dee... OMIM:247200
Baller-Gerold Syndrome
Frontal bossing, Brachyturricephaly, Failure to thrive in infancy, Brachycephaly ORPHA:1225
Say-Barber-Miller Syndrome
Low-set, posteriorly rotated ears, Short stature, Abnormality of the hairline, Highly arched eyeb... ORPHA:3132
Atelosteogenesis, Type I
Short humerus, Short metacarpal, Radial bowing, Rhizomelia, Club-shaped proximal femur, Short fem... OMIM:108720
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Hypospadias, Parietal foramina, Brachycephaly, Plagiocephaly, Coronal craniosyno... ORPHA:85199
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Flat occiput, Hypospadias, Epispadias, Brachycephaly, S... ORPHA:2211
Myhre Syndrome
Abnormal penis morphology, Craniofacial hyperostosis, Severe short stature, Hypospadias, External... ORPHA:2588
Coffin-Siris Syndrome
Sparse scalp hair, Thick eyebrow, Hypospadias, Postnatal growth retardation, Cryptorchidism, Hypo... ORPHA:1465
Reni Syndrome
Cryptorchidism, Sensorineural hearing impairment, Hypogonadism, Adrenal insufficiency, Micropenis... OMIM:617575
Phosphoribosylpyrophosphate Synthetase Superactivity
Short stature, Hypospadias, Small for gestational age, Cryptorchidism, Sensorineural hearing impa... OMIM:300661
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Epispadias, Coxa vara, Clitoral hypoplasia, Short palm, Clinodac... ORPHA:3107
Trisomy 18
Low-set, posteriorly rotated ears, Short stature, Camptodactyly of finger, Cachexia, Cryptorchidi... ORPHA:3380
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Brachycephaly OMIM:618797
Stevenson-Carey Syndrome
Brachycephaly OMIM:611961
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Frontal bossing, Cryptorchidism, Brachycephaly, Plagiocephaly, Failure to thrive, Midface retrusion OMIM:619512
Osteogenesis Imperfecta, Type Xx
Plagiocephaly, Brachycephaly, Midface retrusion OMIM:618644
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand monodacty... OMIM:609945
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Short stature, Posteriorly rotated ears, Highly arched eyebrow, Slow-growing hair, Cr... OMIM:617506
Fanconi Anemia
Abnormal femur morphology, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly of the 5t... ORPHA:84
16P13.11 Microdeletion Syndrome
Short stature, Camptodactyly of finger, Cryptorchidism, Sensorineural hearing impairment, Talipes... ORPHA:261236
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Sensorineural hearing impairment, Diabetes mellitus, Cryptorchidism OMIM:615381
Chromosome 15Q25 Deletion Syndrome
Short stature, Posteriorly rotated ears, Cryptorchidism, Long fingers, Synophrys, Growth delay, L... OMIM:614294
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h... ORPHA:3320
Robinow Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Webbed penis, Micropenis, Syndac... ORPHA:97360
Apert Syndrome
Frontal bossing, Cloverleaf skull, Ovarian neoplasm, Acrobrachycephaly, Brachyturricephaly, Midfa... ORPHA:87
White-Sutton Syndrome
Brachycephaly, Failure to thrive, Obesity OMIM:616364
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Hypospadias, Supernumerary nipple, Tapered finger, Hypoplastic toenails, Crypt... ORPHA:477993
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... ORPHA:363958
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Epispa... ORPHA:2658
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Noonan Syndrome 1
Male infertility, Short stature, Hypospadias, Hearing impairment, Failure to thrive in infancy, P... OMIM:163950
Noonan Syndrome
Low-set, posteriorly rotated ears, Abnormal hair quantity, Hypogonadotropic hypogonadism, Short s... ORPHA:648
Mend Syndrome
Broad hallux, Short stature, Overlapping toe, Posteriorly rotated ears, Cryptorchidism, Long fing... OMIM:300960
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Bilateral ... OMIM:613457
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Small for gestational age, Cryptorchidism, Growth delay, Low-set ears, Intrauterine ... OMIM:614052
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Short stature, Hearing impairment, Absent thumb, Absent radius, C... OMIM:227645
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Ataxia, Follicular thyroid carcinoma, Short sta... ORPHA:201
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Short stature, Partial duplic... OMIM:101400
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Brachycephaly, Premature thelarche, Polycystic ovaries ORPHA:371428
Takenouchi-Kosaki Syndrome
Hypospadias, Overlapping toe, Proximal placement of thumb, Tapered finger, Posteriorly rotated ea... OMIM:616737
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Protruding ear, Aplasia/Hypoplasia of the nails, Camptodactyly, Clinodactyly of t... OMIM:619123
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Long ear, Aplas... OMIM:276820
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Brachycephaly, Hypospadias, Decreased fertility ORPHA:500
Down Syndrome
Short stature, Single transverse palmar crease, Sandal gap, Conductive hearing impairment, Broad ... OMIM:190685
Rothmund-Thomson Syndrome Type 2
Patellar hypoplasia, Sparse hair, Short phalanx of finger, Genu varum, Short metacarpal, Short st... ORPHA:221016
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Overlapping fingers, Hypospadias, Sandal gap, Ulnar... ORPHA:79324
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Frontal balding, Precocious puberty, Cryptorchidism, Long fingers, Syn... ORPHA:96092
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Cryptorchidism, Clubbing,... ORPHA:33364
Hyperphosphatasia-Intellectual Disability Syndrome
Plagiocephaly, Abnormal parietal bone morphology, Brachycephaly ORPHA:247262
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Brachycephaly ORPHA:562528
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent otitis media, Absent inner and outer dynein arms OMIM:614935
Frontometaphyseal Dysplasia 2
Short metacarpal, Ulnar deviation of the hand, Abnormal pinna morphology, Thick eyebrow, Cryptorc... OMIM:617137
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Brachyturricephaly OMIM:607597
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... ORPHA:3472
Cog1-Cdg
Low-set, posteriorly rotated ears, Rhizomelia, Coxa valga, Postnatal growth retardation, Microtia... ORPHA:263508
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Sensorineural hearing impairment, Uterus didelphys, Primary a... OMIM:146255
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Brachycephaly OMIM:212066
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Decreased respons... ORPHA:95494
Uruguay Faciocardiomusculoskeletal Syndrome
Brachyturricephaly OMIM:300280
Kabuki Syndrome
Hypoplasia of penis, Failure to thrive, Short stature, Hypospadias, Highly arched eyebrow, Precoc... ORPHA:2322
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Short stature, Hearing impairment, Cryptorchidism, Micropenis, Clitoral hypoplasia, L... OMIM:616894
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, Sensorineural h... ORPHA:2789
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Absent thumb, Absent ra... OMIM:227646
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Hyperconvex fingernails, Conductive hearing impairment, Intraute... OMIM:194190
Jacobsen Syndrome
Hypospadias, Abnormal eyelash morphology, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia,... OMIM:147791
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Hypospadias, Single transverse palmar crease, Small for gestational age, Metat... OMIM:614866
Trisomy 9P
Brachycephaly ORPHA:236
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, Low anterior hair... OMIM:180849
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Supernumerary nipple, Tapered finger, Large earlobe, Hypoplasia of the e... ORPHA:1236
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula, Brachycephaly OMIM:608980
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Aniridia-Absent Patella Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the patella ORPHA:1069
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Brachycephaly OMIM:619995
Coffin-Siris Syndrome 12
Synophrys, Low anterior hairline, Protruding ear, Hypothyroidism, Simple ear, Short stature, Hypo... OMIM:619325
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Postnatal growth r... OMIM:616145
Webb-Dattani Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:615926
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Postnatal growth retardation, Cryptorchid... ORPHA:90321
Beck-Fahrner Syndrome
Brachycephaly OMIM:618798
Pudendal Neuralgia
Dyspareunia, Impotence, Scrotal pain ORPHA:60039
Achondrogenesis, Type Ii
Frontal bossing, Brachycephaly OMIM:200610
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Failure to thrive, Toe syndactyly, Short stature, Anterior pituitary hypoplasia, H... ORPHA:464306
Kaufman Oculocerebrofacial Syndrome
Hypoplastic labia majora, Failure to thrive, Brachycephaly, Clitoral hypertrophy OMIM:244450
Pseudotrisomy 13 Syndrome
Posteriorly rotated ears, Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly, 2-3 toe... OMIM:264480
3P25.3 Microdeletion Syndrome
Brachycephaly ORPHA:435638
Codas Syndrome
Short humerus, Short metacarpal, Metaphyseal dysplasia, Short stature, Proximal placement of thum... OMIM:600373
Prune Belly Syndrome
Cryptorchidism, Talipes equinovarus OMIM:100100
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Postnatal growth retardation, Labial hypertro... ORPHA:508
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Chronic otitis media, Clinodactyly of the 5th finger, Hypoplastic female ext... ORPHA:1507
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Severe short stature, Posteriorly rotated ears, Camptodactyly of finger, Thyr... ORPHA:3047
Adenylosuccinase Deficiency
Brachycephaly OMIM:103050
Exstrophy-Epispadias Complex
Bifid scrotum, Anal stenosis, Renal insufficiency, Urinary incontinence, Bifid uterus, Microcepha... ORPHA:322
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Growth delay, Hearing impairment ORPHA:77298
Renal Hypoplasia, Bilateral
Short stature, Small for gestational age, Cryptorchidism, Growth delay, Failure to thrive ORPHA:97362
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, Cryptorchidism, Preco... ORPHA:96191
Dubowitz Syndrome
Syndactyly, Sparse scalp hair, Short stature, Hypospadias, Single transverse palmar crease, Postn... OMIM:223370
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Abnormal finger morphology, Short palm, Sparse hair, Clinodactyly of the 5th finger, ... ORPHA:2636
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short stature, Hypospadias, Overlapping toe, Tapered finger, Hearing impairment, Cryptorchidism, ... OMIM:309590
Marshall-Smith Syndrome
Brittle hair, Bilateral cryptorchidism, Synophrys, Distal widening of metacarpals, Coxa vara, Cli... OMIM:602535
Congenital Disorder Of Glycosylation, Type Iit
Brachycephaly OMIM:618885
Noonan Syndrome 2
Curly hair, Short stature, Posteriorly rotated ears, Sparse eyebrow, Cryptorchidism, Low posterio... OMIM:605275
Progeroid Short Stature With Pigmented Nevi
Premature ovarian insufficiency, Short stature, Hypospadias, Diabetes mellitus, Small for gestati... OMIM:176690
Loeys-Dietz Syndrome 5
Failure to thrive in infancy, Brachycephaly, Dolichocephaly, Midface retrusion OMIM:615582
Coffin-Siris Syndrome 1
Dry hair, Single transverse palmar crease, Prominent interphalangeal joints, Clinodactyly of the ... OMIM:135900
Cockayne Syndrome A
Dry hair, Short stature, Abnormal pinna morphology, Abnormal auditory evoked potentials, Cryptorc... OMIM:216400
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Severe short stature, Hypospadias, Hydro... ORPHA:2461
Marshall Syndrome
Frontal bossing, Thickened calvaria, Brachycephaly ORPHA:560
Shprintzen-Goldberg Syndrome
Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Posteriorly rotated ears, Elbo... ORPHA:2462
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microtia, Low-set ears, Adducted thumb OMIM:614643
Lamb-Shaffer Syndrome
Abnormal social behavior, Mild postnatal growth retardation ORPHA:530983
Lateral Meningocele Syndrome
Short stature, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, ... OMIM:130720
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Hypospadias, Abnormal pinna morphology, Proximal placement of thumb, Cryptorchidism, ... OMIM:217980
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Skull asymmetry, Brachycephaly OMIM:614701
Dysostosis, Stanescu Type
Brachycephaly, Midface retrusion ORPHA:1798
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Brachycephaly ORPHA:2095
Urofacial Syndrome 1
Cryptorchidism OMIM:236730
White-Sutton Syndrome
Brachycephaly, Obesity, Midface retrusion ORPHA:468678
Distal Deletion 3P
Low-set, posteriorly rotated ears, Short stature, Cryptorchidism, Postaxial hand polydactyly, Cli... ORPHA:1620
Craniosynostosis And Dental Anomalies
Frontal bossing, Turricephaly, Flat occiput, Sagittal craniosynostosis, Scaphocephaly, Oxycephaly... OMIM:614188
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Low-set ears, Ab... ORPHA:284160
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Arachnodactyly, Short stature, Abnormal thumb morphology, Cryptorchidis... ORPHA:2719
Trichohepatoneurodevelopmental Syndrome
Plagiocephaly, Midface retrusion, Brachycephaly, Decreased body weight OMIM:618268
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism, Mixed hearing impairment OMIM:620012
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Posteriorly rotated ears, Supernumerary nipple, Prominent crus of helix, Crypto... OMIM:619194
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Supernumerary nipple, Tapered finger, Highly arched eyebrow, Cryptorchidism, 2-3... OMIM:618653
Microphthalmia, Syndromic 2
Anteverted ears, 2-3 toe cutaneous syndactyly, Laterally curved eyebrow, Contracture of the proxi... OMIM:300166
Opitz Gbbb Syndrome
Hypospadias, Posteriorly rotated ears, Cryptorchidism, Widow's peak, Growth delay, Low-set ears, ... OMIM:300000
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Syndactyly, Short stature, Hypospadias, Arachnodactyly,... OMIM:265000
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Overlapping toe, Hypospadias, Cryptorchidism, Abnormal hair whorl, Synophr... ORPHA:163956
Cerebrooculonasal Syndrome
Frontal bossing, Craniosynostosis, Proboscis, Brachycephaly, Hypoplastic male external genitalia OMIM:605627
Cystinosis, Nephropathic
Progressive neurologic deterioration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight... OMIM:219800
Floating-Harbor Syndrome
Short middle phalanx of the 2nd finger, Glandular hypospadias, Conductive hearing impairment, Cli... OMIM:136140
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Cryptorchidism, Premature graying of hair, Nail dystrophy OMIM:620365
Diphallia
Bifid scrotum, Ureteral duplication, Rectoperineal fistula, Hypospadias, Distal urethral duplicat... ORPHA:227
Klippel-Trénaunay Syndrome
Upper limb asymmetry, Abnormality of the menstrual cycle ORPHA:90308
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Brachycephaly, Obesity, Craniosynostosis ORPHA:369837
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Noonan Syndrome 10
Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, Low-set ears, Palmoplantar cutis laxa,... OMIM:616564
Congenital Myopathy 13
Cryptorchidism, Brachycephaly, Midface retrusion OMIM:255995
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Low anterior hai... OMIM:614976
Acromelic Frontonasal Dysostosis
Parietal foramina, Cryptorchidism, Brachycephaly OMIM:603671
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Single transverse palmar crease, Proximal ... OMIM:229850
19P13.13 Microdeletion Syndrome
Brachycephaly, Dolichocephaly ORPHA:357001
Larsen Syndrome
Short metacarpal, Short stature, Short nail, Spatulate thumbs, Elbow dislocation, Cryptorchidism,... OMIM:150250
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... ORPHA:2108
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Hearing impairment, Intrauterine growth retardation OMIM:620327
Microphthalmia, Syndromic 6
Small scrotum, Single transverse palmar crease, Adrenal hypoplasia, Uplifted earlobe, Protruding ... OMIM:607932
17Q12 Microdeletion Syndrome
Diabetes mellitus, Short stature, Hearing impairment, Cryptorchidism, Shawl scrotum, Pancreatic a... ORPHA:261265
3Mc Syndrome 2
Hypospadias, Limited elbow movement, Highly arched eyebrow, Postnatal growth retardation, Cryptor... OMIM:265050
Cleidocranial Dysplasia
Frontal bossing, Brachycephaly, Midface retrusion ORPHA:1452
Cockayne Syndrome B
Dry hair, Severe short stature, Abnormal pinna morphology, Small for gestational age, Abnormal au... OMIM:133540
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Alopecia, Diabetes mellitus, Arachnodactyly, Sandal gap, Phalangeal dislocation, E... ORPHA:536532
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Short stature, Posteriorly rotated ears, Supernumerary nipple, Highly arched eyebr... OMIM:618454
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Hearing impairment ORPHA:90024
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Short stature OMIM:300578
Ctcf-Related Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Broad hallux phalanx, Sandal gap, Single transverse palmar cre... ORPHA:363611
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Fragile X-Associated Tremor/Ataxia Syndrome
Impotence, Hypothyroidism ORPHA:93256
Deeah Syndrome
Overlapping fingers, Short stature, Decreased response to growth hormone stimulation test, Anteri... OMIM:619004
Spondylodysplastic Ehlers-Danlos Syndrome
Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Low-set, poste... ORPHA:536471
Trisomy 8P
Short fourth metatarsal, Single transverse palmar crease, Aplasia/Hypoplasia of the gallbladder, ... ORPHA:264450
Mckusick-Kaufman Syndrome
Syndactyly, Mesoaxial hand polydactyly, Cryptorchidism, Postaxial hand polydactyly, Transverse va... OMIM:236700
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Short stature, Small for gestational age, Cryptorchidism, Growth delay... OMIM:307030
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Congenital hypothyroidism, Micr... ORPHA:2519
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Clinodactyly o... OMIM:615873
Multiple System Atrophy 1, Susceptibility To
Impotence OMIM:146500
Osteogenesis Imperfecta, Type Xi
Brachycephaly OMIM:610968
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Frontal bossing, Brachycephaly OMIM:618188
Cerebrofaciothoracic Dysplasia
Brachycephaly, Midface retrusion ORPHA:1394
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media OMIM:619607
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachycephaly OMIM:614800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Hypospadias, Small for gestational age, Tapered finger, Cryptorchidism, Short ... ORPHA:464311
Raine Syndrome
Plagiocephaly, Brachyturricephaly, Brachycephaly, Midface retrusion OMIM:259775
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Short stature, Cryptorchidism, Male pseudohermaphroditi... ORPHA:847
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Toe syndactyly, Hypospadias, Single transverse palmar crease, Tapered finger, Anteverted ears, Cr... ORPHA:459070
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Cryptorchidism, Increased femoral anteversion, Long eyelashes, Decreased b... OMIM:619005
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Micro... ORPHA:268261
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Triphalangeal ... OMIM:149730
Silver-Russell Syndrome 5
Relative macrocephaly, Intrauterine growth retardation, Small for gestational age, Birth length l... OMIM:618908
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly ORPHA:2988
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Frontal bossing, Large for gestational age, Brachycephaly, Hydrocele testis, Plagiocephaly OMIM:280000
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary, Short stature, Micropenis OMIM:610125
Pfeiffer Syndrome
Coronal craniosynostosis, Cloverleaf skull, Brachyturricephaly OMIM:101600
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Large for gestational age, Brachycephaly, Craniosynostosis, Shawl scrotum OMIM:213980
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fourth metatarsal, Anterior pituitary hypoplasia, Single transverse palmar crease, Uplifted... OMIM:619841
Fontaine Progeroid Syndrome
Turricephaly, Small scrotum, Small for gestational age, Craniosynostosis, Cryptorchidism, Brachyc... OMIM:612289
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Delayed puberty, Micropenis OMIM:619718
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short stature, Sh... OMIM:134780
Hypotonia, Ataxia, And Delayed Development Syndrome
Small earlobe, Short stature, Posteriorly rotated ears, Tapered finger, Cryptorchidism, Synophrys... OMIM:617330
Degcags Syndrome
Synophrys, Low anterior hairline, Premature graying of hair, Syndactyly, Hypospadias, Abnormal ey... OMIM:619488
Duplication Of The Pituitary Gland
Brachyturricephaly, Midface retrusion, Decreased body weight ORPHA:314621
Shprintzen-Goldberg Craniosynostosis Syndrome
Frontal bossing, Craniosynostosis, Cryptorchidism, Dolichocephaly, Brachyturricephaly OMIM:182212
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Plagiocephaly, Truncal obesity, Brachycephaly OMIM:301072
Ochoa Syndrome
Cryptorchidism ORPHA:2704
Kabuki Syndrome 1
Short stature, Posteriorly rotated ears, Premature thelarche, Highly arched eyebrow, Postnatal gr... OMIM:147920
Robinow Syndrome, Autosomal Dominant 1
Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocate... OMIM:180700
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Postnatal gr... ORPHA:83617
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Short stature, Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Cryp... OMIM:616975
Schneckenbecken Dysplasia
Increased fibular diameter, Abnormal fingernail morphology, Dumbbell-shaped long bone, Micromelia... ORPHA:3144
African Trypanosomiasis
Alopecia, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality of... ORPHA:3385
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Hypospadias, Postnat... OMIM:206900
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Failure to thrive, Severe short stature, Hypospadias, Microcephaly, Ep... ORPHA:2556
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Osteopathia striata, Short metatarsal, Clitoral hypoplasia, Foot oligo... OMIM:305600
Metaphyseal Chondrodysplasia, Jansen Type
Brachycephaly OMIM:156400
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Small for gestational age, Short stature, Cryptorchidism, Failure to thrive, Hearing impairment OMIM:620024
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Single transverse palmar crease, Supernumerary nipple, Anteverted ears, Cryptorc... OMIM:613884
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Absent eyebrow, Hypospadias, Abnormal pinna morphology, Absent e... OMIM:219000
Cohen-Gibson Syndrome
Thin nail, Coxa valga, Long fingers, Cryptorchidism, Flared metaphysis, Large hands, Long ear, Lo... OMIM:617561
Hartsfield Syndrome
Syndactyly, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Gonadotropin deficiency, Growt... OMIM:615465
Xeroderma Pigmentosum
Alopecia, Short stature, Cryptorchidism, Sensorineural hearing impairment, Hypogonadism, Failure ... ORPHA:910
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Short stature, Hypospadias, Posteriorly rotated ears, Cryptorchi... ORPHA:2745
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Short stature, Posteriorly rotated ears, 2-3 toe cutaneous syndactyly, Protruding ear,... OMIM:614756
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Patchy alopecia, Pheochromocytoma, Hemiatrophy ORPHA:2874
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Small earlobe, Genu varum, Long toe, Absent eyebrow, Alopecia, Short st... OMIM:264090
Epidermolysis Bullosa Simplex With Pyloric Atresia
Scarring alopecia of scalp, Microtia, Nail dystrophy ORPHA:158684
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Brachydactyly, Highly arched eyebrow, Cryptorchidism, Short toe, Widow's peak,... ORPHA:1519
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Preaxial polydactyly, Fibular ... OMIM:616300
Otopalatodigital Syndrome, Type Ii
Short metatarsal, Femoral bowing, Tibial bowing, Conductive hearing impairment, Short metacarpal,... OMIM:304120
Common Variable Immunodeficiency
Failure to thrive in infancy, Brachycephaly ORPHA:1572
Aspartylglucosaminuria
Macroorchidism, Chronic otitis media, Microtia, Abnormal morphology of ulna ORPHA:93
Skin Creases, Congenital Symmetric Circumferential, 1
Brachycephaly OMIM:156610
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Clinodactyly of the 5th finger, Short phalanx of finger, Genu varum, Hypoplasia o... OMIM:274000
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Urinary incontinence, Hair-pulling, Irritability, Secondary microcephaly, Primary microcephaly ORPHA:447997
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty... OMIM:270400
Fetal Akinesia Deformation Sequence 1
Ulnar deviation of the hand, Posteriorly rotated ears, Rocker bottom foot, Camptodactyly of finge... OMIM:208150
Isolated Arrhinia
Microtia ORPHA:1134
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Hypospadias, Sparse eyebrow, Cryptorchidism, Hypoplastic labia minora, Synophrys, ... ORPHA:495875
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Bifid uterus, Absent eyelashes... OMIM:256520
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Mixed hearing impairment, Shor... OMIM:620305
Gabriele-De Vries Syndrome
Hallux valgus, Sydney crease, Decreased response to growth hormone stimulation test, Sandal gap, ... ORPHA:506358
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, High palate, Ataxia, Microcephaly OMIM:616393
Autosomal Recessive Faciodigitogenital Syndrome
Frontal bossing, Brachycephaly, Shawl scrotum ORPHA:1974
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Calcification of the auricular cartilage, Short stature, Bilateral cryptorchidism, Synophrys, Ano... ORPHA:3042
Neurofibromatosis-Noonan Syndrome
Short stature, Posteriorly rotated ears, Cryptorchidism, Low posterior hairline, Low-set ears, Cu... OMIM:601321
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Failure to thrive, Macroorchidism, Brachycephaly OMIM:619950
Roberts-Sc Phocomelia Syndrome
Sparse hair, Wrist flexion contracture, Syndactyly, Hypoplasia of the ulna, Hypospadias, Aplasia ... OMIM:268300
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Brachycephaly OMIM:300968
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... ORPHA:64
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... OMIM:619879
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Cryptorchidism, Sensorineural hearing impairment, Growth delay, ... OMIM:612541
Congenital Disorder Of Deglycosylation 1
Midface retrusion, Brachycephaly, Decreased body weight OMIM:615273
Choreoacanthocytosis
Bradyphrenia, Short attention span, Protruding tongue, Hair-pulling, Mental deterioration, Social... ORPHA:2388
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Brachycephaly, Midface retrusion ORPHA:85276
Cartilage-Hair Hypoplasia
Failure to thrive, Brachycephaly ORPHA:175
Lambert-Eaton Myasthenic Syndrome
Impotence ORPHA:43393
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Chronic otitis media, Conductive hearing impairment OMIM:244400
Tetraamelia Syndrome 1
Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Severe short stature, Thin fingernail, Camptodactyly of finger, Abnorma... ORPHA:2273
Cartilage-Hair Hypoplasia
Brachycephaly OMIM:250250
Multicentric Osteolysis, Nodulosis, And Arthropathy
Frontal bossing, Brachycephaly OMIM:259600
Alpha-Mannosidosis, Infantile Form
Cranial hyperostosis, Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:309282
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Floating-Harbor Syndrome
Short attention span, Broad-based gait, Hypospadias, Small for gestational age, Short stature, Pr... ORPHA:2044
Holoprosencephaly 13, X-Linked
Microtia, Low-set ears, Hearing impairment OMIM:301043
Wrinkly Skin Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, Coxa vara, Slender long bones with n... ORPHA:2834
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Diabetes mellitus, Hypospadias, Abnormal morp... ORPHA:2911
Branchioskeletogenital Syndrome
Craniosynostosis, Absent external genitalia, Brachycephaly, Micropenis, Thickened calvaria, Penos... ORPHA:1299
Weill-Marchesani Syndrome 1
Broad skull, Brachycephaly OMIM:277600
Osteopetrosis With Renal Tubular Acidosis
Plagiocephaly, Failure to thrive, Thickened calvaria, Brachycephaly ORPHA:2785
Wrinkly Skin Syndrome
Scapular winging, Short stature, Short nail, Cryptorchidism, Coxa vara, Deep palmar crease, Talip... OMIM:278250
Holoprosencephaly 9
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:610829
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Micropenis, Brachycephaly OMIM:263520
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Brachycephaly, Cachexia ORPHA:2072
Native American Myopathy
Short stature, Cryptorchidism, Talipes equinovarus, Camptodactyly, Conductive hearing impairment ORPHA:168572
Ring Chromosome 7 Syndrome
Hypospadias, Brachycephaly, Hydrocele testis, Plagiocephaly, Hypogonadism ORPHA:1449
Oeis Complex
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Fraser Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospa... ORPHA:2052
Hunter-Macdonald Syndrome
Hypospadias, Brachycephaly, Midface retrusion OMIM:611962
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, External genital hypoplasia, Adrenal hypoplasia, Postaxial ... OMIM:249000
Ehlers-Danlos Syndrome, Vascular Type
Short stature, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insufficiency, Osteolytic... OMIM:130050
Elsahy-Waters Syndrome
Bifid scrotum, Hypospadias, Bilateral cryptorchidism, Brachycephaly, Midface retrusion, Penoscrot... OMIM:211380
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Otitis media, Conductive hearing impairment, Syndactyly, Short stature, Hypospadias, Broad hallux... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Otitis media, Conductive hearing impairment, Syndactyly, Short stature, Hypospadias, Broad hallux... ORPHA:353277
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Abnormal fingernail morphology, Supernumerary nipple, Bifid uterus, Abnormal reproduc... ORPHA:1521
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorc... ORPHA:2166
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly ORPHA:2062
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Short stature, Hypospadias, Sparse eyelashes, Phimosis, Crypto... OMIM:305000
Primrose Syndrome
Bilateral cryptorchidism, Synophrys, Dystrophic fingernails, Hypothyroidism, Short stature, Crypt... OMIM:259050
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Brachycephaly ORPHA:521445
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Abnormality of the ... ORPHA:3455
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Elbow flexion contracture, Osteolytic defects of the phalanges of the h... OMIM:618175
Noonan Syndrome 3
Short stature, Posteriorly rotated ears, Cryptorchidism, Low-set ears, Thickened helices OMIM:609942
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Low-set ears, Large for gestational age OMIM:267000
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus OMIM:236680
Malakoplakia
Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle ORPHA:556
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Diabetes mellitus, Small scrotum, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism OMIM:614231
Arthrogryposis And Ectodermal Dysplasia
Brachycephaly OMIM:601701
Pfeiffer Syndrome Type 3
Brachyturricephaly, Midface retrusion ORPHA:93260
Johanson-Blizzard Syndrome
Single transverse palmar crease, Clinodactyly of the 5th finger, Micropenis, Hypothyroidism, Abno... OMIM:243800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Short stature, Hypospadias, Broad hallux, Avascular necrosis of the capital femoral epiphysis, Cr... ORPHA:353281
Diets-Jongmans Syndrome
Short stature, Hypospadias, Cryptorchidism, Long ear, Hearing impairment OMIM:618846
Frank-Ter Haar Syndrome
Flat occiput, Brachycephaly OMIM:249420
Monosomy 22Q13.3
Hair-pulling, Obesity, Macrocephaly, Dolichocephaly, Vesicoureteral reflux, Recurrent pyelonephri... ORPHA:48652
Weill-Marchesani Syndrome 2
Broad skull, Brachycephaly OMIM:608328
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Frontal bossing, Brachycephaly, Failure to thrive, Obesity OMIM:617157
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Cryptorchidism, Fibular hypoplasia, Limite... OMIM:258315
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Cryptorchidism, Abnormality of the ear, Ulnar deviation of finger, Talip... ORPHA:1101
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Frontal bossing, Turricephaly, Brachycephaly, Prominent occiput, Truncal obesity, Failure to thrive OMIM:612474
Frontofacionasal Dysplasia
Brachycephaly, Hypoplasia of the frontal bone, Midface retrusion OMIM:229400
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Brachycephaly OMIM:618223
Renpenning Syndrome 1
Brachycephaly, Hypospadias, Decreased testicular size, Phimosis OMIM:309500
Mosaic Trisomy 20
Hearing impairment, Cryptorchidism, Intrauterine growth retardation, Clinodactyly, Limited pronat... ORPHA:1724
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Abnormal social behavior ORPHA:314647
Okamoto Syndrome
Bifid uterus, Extension of hair growth on temples to lateral eyebrow, Severe postnatal growth ret... ORPHA:2729
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, External genital hypoplasia ORPHA:2250
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Cryptorchidism, Brachycephaly OMIM:601776
Meckel Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, True hermaphroditism, Pancreatic fib... ORPHA:564
Acrofrontofacionasal Dysostosis 1
Brachycephaly OMIM:201180
Williams Syndrome
Hypoplasia of penis, Hypoplastic toenails, Protruding ear, Clinodactyly of the 5th finger, Chroni... ORPHA:904
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Short stature, Hypospadias, Sparse scalp hair... OMIM:308205
Doors Syndrome
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Prominent occiput, Ambiguous genitalia... ORPHA:79500
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Cryptorchidism, 2-3 toe syndactyly, Talipes equinovarus, Low-set ears, Clinoda... OMIM:620025
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Frontal bossing, Cryptorchidism, Brachycephaly, Dolichocephaly, Unicornuate uterus, Micropenis, F... OMIM:619503
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Precocious puberty, Cryptorchidism, Clinodactyly of the 5th finger, Nail dysplas... OMIM:616682
Mowat-Wilson Syndrome
Bifid scrotum, Uplifted earlobe, Calcaneovalgus deformity, Conductive hearing impairment, Webbed ... ORPHA:2152
Pallister-Killian Syndrome
Small scrotum, Single transverse palmar crease, Camptodactyly of 2nd-5th fingers, Short palm, Cli... OMIM:601803
Osteogenesis Imperfecta
Prominent occiput, Small for gestational age, Brachycephaly ORPHA:666
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Short stature, Camptodactyly of finger, Postnatal growth retardation, Cryptorc... OMIM:309000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Abnormal hair whorl, Aplasia of the vagina, Aplasia of the u... ORPHA:457284
Dihydropyrimidine Dehydrogenase Deficiency
Short nail, Micromelia, Large earlobe, Deep palmar crease, Long eyelashes, Abnormal social behavior ORPHA:1675
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Decreased resting energy expenditure, Coxa valga, Tarsal sclerosis, Ac... ORPHA:404454
Double Outlet Left Ventricle
Cryptorchidism, Failure to thrive ORPHA:3427
Genitopatellar Syndrome
Sparse scalp hair, Small scrotum, Enlarged labia minora, Hearing impairment, Cryptorchidism, Pate... OMIM:606170
Chime Syndrome
Brachycephaly ORPHA:3474
Aspartylglucosaminuria
Macroorchidism, Thickened calvaria, Brachycephaly OMIM:208400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicornuate uterus, Hypospadias, Brachycephaly OMIM:265380
Mandibuloacral Dysplasia Progeroid Syndrome
Frontal bossing, Brachycephaly OMIM:619127
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Cryptorchidism, Preaxial hand polydactyl... ORPHA:93271
Cystic Fibrosis
Male infertility, Meconium ileus, Rectal prolapse, Ileus, Hypercalciuria, Steatorrhea, Failure to... OMIM:219700
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uter... OMIM:618280
Craniofacial Microsomia 1
Sensorineural hearing impairment, Anotia, Microtia, Atresia of the external auditory canal, Condu... OMIM:164210
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Brachyturricephaly ORPHA:522077
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Uplifted earlobe, Calcaneovalgus deformity, Webbed penis, Micropenis, Long hallux,... ORPHA:261537
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior, Bilateral sensorineural hearing impairment, Neoplasm of the gallbladder ORPHA:309271
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Overgrowth of external genitalia, Cryptorchidism, Pancreatic hyperplas... OMIM:130650
Paroxysmal Nocturnal Hemoglobinuria
Impotence ORPHA:447
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Bilateral sensorineural hearing impairment ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Bilateral sensorineural hearing impairment ORPHA:309263
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Penile Agenesis
Posteriorly rotated ears, Maternal diabetes, Cryptorchidism, Bilateral talipes equinovarus, Absen... ORPHA:49
Vascular Ehlers-Danlos Syndrome
Alopecia, Short stature, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, C... ORPHA:286
Wiskott-Aldrich Syndrome
Chronic otitis media, Hypoplasia of the thymus, Otitis media, Abnormality of the menstrual cycle ORPHA:906
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Brachycephaly OMIM:610442
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Viss Syndrome
Frontal bossing, Failure to thrive, Brachycephaly, Dolichocephaly OMIM:619472
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Hypermobile Ehlers-Danlos Syndrome
Abnormality of the menstrual cycle, Elbow dislocation, Vertigo, Cystocele, Decreased fertility, A... ORPHA:285
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Microphthalmia, Syndromic 1
Syndactyly, Hypospadias, Abnormal palmar dermatoglyphics, Abnormal pinna morphology, Cryptorchidi... OMIM:309800
Trichotillomania
Hair-pulling OMIM:613229
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathy... ORPHA:805
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Brachycephaly ORPHA:480880
12Q14 Microdeletion Syndrome
Frontal bossing, Diabetes mellitus, Short stature, Intestinal malrotation, Microcephaly, Ectopic ... ORPHA:94063
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Uterine rupture ORPHA:60030
Niemann-Pick Disease Type C
Abnormal social behavior, Hearing impairment ORPHA:646
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971

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 Hmga2

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 Hmga2.

No publications found that use IMPC mice or data for Hmga2.

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MGI Allele Allele Type Produced
Hmga2tm356349(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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