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Gene: Dnmt3l MGI:1859287

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Gene Summary

Name:
DNA methyltransferase 3-like
Synonyms:
ecat7,  D6Ertd14e

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin Dnmt3ltm1b(EUCOMM)Hmgu HOM   Early adult 8.34×10-05
persistence of hyaloid vascular system Dnmt3ltm1b(EUCOMM)Hmgu HOM Early adult 3.75×10-05
female infertility Dnmt3lem1(IMPC)Bay HOM Early adult 0.00
male infertility Dnmt3lem1(IMPC)Bay HOM Early adult 0.00
increased bone mineral density Dnmt3ltm1b(EUCOMM)Hmgu HOM Early adult 2.15×10-05
small testis Dnmt3ltm1b(EUCOMM)Hmgu HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

9 Images

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Eye Morphology

VIP of right eye

17 Images

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Eye Morphology

VIP of right fundus

17 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Eye Morphology

VIP of left eye

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

18 Images

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Eye Morphology

VIP of left fundus

18 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Human diseases caused by Dnmt3l mutations

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

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

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

The table below shows human diseases predicted to be associated to Dnmt3l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 17
Male infertility OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
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
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Cone-Rod Dystrophy 1
Hypogonadism OMIM:600624
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism ORPHA:1180
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogon... OMIM:614840
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Osteomesopyknosis
Increased bone mineral density, Infertility OMIM:166450
Deafness, Congenital, With Total Albinism
Hypogonadism OMIM:220900
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
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
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism ORPHA:1014
Prader-Willi syndrome (Type 1)
Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism DECIPHER:53
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Diabetes mellitus OMIM:602475
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Gonadal dysgenesis OMIM:615041
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Young Syndrome
Azoospermia OMIM:279000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Bardet-Biedl Syndrome 11
Hypogonadism OMIM:615988
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility OMIM:300719
Van Buchem Disease
Thickened cortex of long bones, Optic atrophy from cranial nerve compression, Increased bone mine... OMIM:239100
Spastic Paraparesis And Deafness
Hypogonadism OMIM:312910
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis OMIM:607080
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Cataract-Deafness-Hypogonadism Syndrome
Hypogonadism ORPHA:1383
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Optic disc pallor, Osteopetrosis, Thrombocytopenia,... OMIM:611490
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia ORPHA:397685
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Papilledema, Osteopetrosis, Anemia,... OMIM:620366
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Hypoplasia of penis, Micropenis, Cryptorchidism ORPHA:85274
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Hypospadias, Spina bifida ORPHA:3176
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... OMIM:612310
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Optic atrophy, Increased bone mineral density ORPHA:178377
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn... ORPHA:210110
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... OMIM:264300
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism OMIM:254000
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Sclerosteosis
Optic atrophy, Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone miner... ORPHA:3152
Deafness, Conductive, With Malformed External Ear
Hypogonadism OMIM:221300
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Non... ORPHA:432
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hypogonadotropic hypogonadism OMIM:615269
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Micropenis OMIM:615983
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating parat... OMIM:122860
Spastic Paraparesis-Deafness Syndrome
Hypogonadism ORPHA:2815
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... ORPHA:755
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall... OMIM:618300
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... ORPHA:753
Gordon Holmes Syndrome
Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe... OMIM:212840
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Bardet-Biedl Syndrome 10
Hypogonadism OMIM:615987
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Primary amenorrhea, Micropenis, Decreased serum leptin OMIM:614962
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Ring Chromosome 21 Syndrome
Abnormal heart morphology, Azoospermia, Amenorrhea, Holoprosencephaly, Infertility, Diabetes insi... ORPHA:1445
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hypogonadotropic hypogonadism OMIM:615266
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Cryptorchidism ORPHA:261483
Melorheostosis
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... ORPHA:2485
Joubert Syndrome 15
Micropenis, Ambiguous genitalia, Exencephaly OMIM:614464
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty ORPHA:141333
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism ORPHA:88637
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Hemochromatosis, Type 1
Cardiomyopathy, Ascites, Azoospermia, Pleural effusion, Cardiomegaly, Hypogonadotropic hypogonadi... OMIM:235200
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Azoospermia, Ambiguous genitalia, Primary gonadal insufficie... ORPHA:261519
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia OMIM:615085
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypo... OMIM:610628
Image Syndrome
Hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism ORPHA:85173
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Oste... OMIM:259710
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density ORPHA:37748
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Delayed puberty OMIM:615270
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic hypogonadi... ORPHA:848
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Decreased fertility, Abnormal testis morphology ORPHA:2233
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Cryptorchidism OMIM:615982
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture, Os... OMIM:259700
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Björnstad Syndrome
Hypogonadism ORPHA:123
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyr... OMIM:618849
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Crandall Syndrome
Hypogonadism, Hypoplasia of penis, Abnormal testis morphology ORPHA:202
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H... ORPHA:10
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Coronal craniosynostosis, Decreased mean corpuscular volume, Increased... OMIM:616943
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163976
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Abnormality of the thyroid gland, Decreas... ORPHA:2234
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Absence of pubertal development OMIM:615267
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... ORPHA:3363
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Albers-Schönberg Osteopetrosis
Optic atrophy, Mandibular osteomyelitis, Osteomyelitis, Abnormal leukocyte morphology, Generalize... ORPHA:53
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocytic anemia, Elevated circulatin... OMIM:620501
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary, Subperiosteal bone formation, Osteoscle... OMIM:609993
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias OMIM:615985
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
X-Linked Intellectual Disability, Miles-Carpenter Type
Hypogonadism ORPHA:85283
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R... OMIM:613673
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... ORPHA:95619
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Decreased response to gro... OMIM:300845
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Diabetes mellitus OMIM:615981
Isolated Hemihyperplasia
Myelomeningocele, Cryptorchidism ORPHA:2128
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Moynahan Syndrome
Hypogonadism ORPHA:2574
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Situs inversus totalis, Hypothyroidism, Dextrocardia OMIM:617577
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Beta-Thalassemia Intermedia
Osteopenia, Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadi... ORPHA:231222
Conductive Deafness-Malformed External Ear Syndrome
Hypogonadism ORPHA:3216
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Lessel-Kubisch Syndrome
Hypogonadism OMIM:618681
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Ascites, De... ORPHA:91348
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi... OMIM:300869
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Hypogonadism, Decreased fertility, Hypogonadotropic hypogonadism, Abnormali... ORPHA:1173
Spinocerebellar Ataxia, Autosomal Recessive 16
Hypogonadism OMIM:615768
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Myelomeningocele, Cryptorchidism, Spina bifida ORPHA:1756
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism OMIM:601794
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Ring Chromosome 22 Syndrome
Azoospermia, Pleural effusion, Edema, Lymphedema ORPHA:1446
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Optic nerve compression, ... OMIM:259730
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Majeed Syndrome
Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomegaly, Synovitis, Cong... ORPHA:77297
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96264
Camurati-Engelmann Disease
Sclerosis of skull base, Optic nerve compression, Anemia, Delayed puberty, Cortical thickening of... OMIM:131300
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96263
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Coloboma, Osteopetrosis OMIM:617306
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella OMIM:620197
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia OMIM:612840
Diastrophic Dysplasia
Camptodactyly of finger, Joint stiffness, Cryptorchidism, Joint hypermobility, Increased bone min... ORPHA:628
Bardet-Biedl Syndrome 7
Hypogonadism OMIM:615984
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Testicular atrophy OMIM:618165
Dysosteosclerosis
Optic atrophy, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mi... ORPHA:1782
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Sclerosis of foot bone, Sclerosis of... ORPHA:2905
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Atrial situs ambiguous, Abnormal heart morphology, A... ORPHA:244
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Impotence, Abnormality of endocrine pancreas physiology, Diabetes mellitus ORPHA:79230
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency OMIM:619518
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... ORPHA:90650
Werner Syndrome
Secondary amenorrhea, Hypogonadism, Joint stiffness, Thyroid carcinoma, Decreased fertility, Abno... ORPHA:902
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Retinal detachment, Delayed patellar ossification, Abnormal bone ... ORPHA:163649
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism OMIM:251240
Bardet-Biedl Syndrome 22
Hypogonadism OMIM:617119
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopen... OMIM:259720
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:94089
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Thickened cortex of long bones, Papilledema, Anemia, Increased bone mineral d... OMIM:127000
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab... ORPHA:251066
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Classic Galactosemia
Ascites, Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-... ORPHA:79239
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Retinal degeneration, Ankylosis, Osteoporosis, Recurr... OMIM:239000
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Osteogenesis Imperfecta, Type Xiii
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone... OMIM:614856
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Hemochromatosis, Type 2B
Hypogonadism, Secondary amenorrhea OMIM:613313
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Testicular seminoma, Cryptorchidism ORPHA:281090
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Upper eyelid edema, Amenorrhea, Delayed pub... ORPHA:168569
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia... OMIM:222300
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Bifid scrotum, Encephalocele, Exencephaly, Shawl scrotum, Hypospadias,... ORPHA:2211
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Hypogonadotropic hypogonadism, Decreased circulati... OMIM:600955
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Ciliary Dyskinesia, Primary, 18
Male infertility, Situs inversus totalis, Immotile sperm, Absent inner dynein arms, Absent outer ... OMIM:614874
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Joint swelling, Car... ORPHA:465508
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Polyhydramnios, Hypogonadism OMIM:160900
Fryns Microphthalmia Syndrome
Unicornuate uterus, Neural tube defect OMIM:600776
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Absent outer dynein arms, Male infertility OMIM:612444
Fanconi Anemia
Abnormality of the uterus, Umbilical hernia, Hypogonadism, Hypertrophic cardiomyopathy, Azoosperm... ORPHA:84
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Precocious puberty, Small pituitary gland, Central hypothyro... ORPHA:398079
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Situs inversus totalis, Immotile sper... OMIM:613807
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Decreased skull ossification OMIM:601163
Lumbar Syndrome
Bifid scrotum, Myelomeningocele, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, M... ORPHA:83628
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Cryptorchidism, Flexion contracture, Hypospadias ORPHA:98791
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Trichothiodystrophy
Osteopenia, Macular degeneration, Increased mean corpuscular hemoglobin concentration, Gonadal dy... ORPHA:33364
Pycnodysostosis
Coronal craniosynostosis, Decreased response to growth hormone stimulation test, Hepatosplenomega... ORPHA:763
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosi... ORPHA:2658
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Dysosteosclerosis
Osteopenia, Optic atrophy, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibil... OMIM:224300
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Camurati-Engelmann Disease, Type 2
Hypogonadism, Delayed puberty OMIM:606631
Intellectual Developmental Disorder, Autosomal Dominant 72
Micropenis, Spina bifida, Shawl scrotum OMIM:620439
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism ORPHA:36913
Gaucher Disease Type 3
Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Delayed puberty, Thrombocytope... ORPHA:77261
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
X-Linked Intellectual Disability, Seemanova Type
Hypogonadism, Cryptorchidism ORPHA:85323
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Erdheim-Chester Disease
Osteomyelitis, Hypogonadotropic hypogonadism, Anemia, Increased bone mineral density, Diabetes in... ORPHA:35687
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Chondrodysplasia Punctata 1, X-Linked Recessive
Hypogonadism OMIM:302950
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Pancytopenia, Thrombocytopenia OMIM:613987
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Bloom Syndrome
Azoospermia, Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism OMIM:210900
Triploidy
Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Hypoplasia of penis, Holoprosenc... ORPHA:3376
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglob... OMIM:617052
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Splenomegaly, Femur ... OMIM:612301
Desmosterolosis
Increased bone mineral density, Ambiguous genitalia, Osteopetrosis, Splenomegaly ORPHA:35107
Sirenomelia
Sirenomelia, Ambiguous genitalia, Spina bifida ORPHA:3169
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Craniofacial osteosclerosis, Increased skull ossification, Osteopetrosis, Diaphyse... OMIM:618476
Microphthalmia/Coloboma 12
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Tracheomalacia, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Decreased response to growth hormone stimulation test, Cryptorchidism, Con... OMIM:241410
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Gaucher Disease
Splenic infarction, Osteopenia, Cholelithiasis, Osteolysis, Pathologic fracture, Osteomyelitis, J... ORPHA:355
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Male infertility, Absent inner and outer dynein arms OMIM:614935
Atypical Werner Syndrome
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Hyperi... ORPHA:79474
Chiari Malformation Type Ii
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida OMIM:207950
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Bloom Syndrome
Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility ORPHA:125
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Ectopic ossification, Elevated circulating parathyroid h... ORPHA:79443
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Abnormality of the male genitalia, Joint stiffness, Abnormal hemoglobin, Cryptorch... ORPHA:847
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Abnormal morphology of female internal genitalia, Cryptorchidism, Spina bifida ... ORPHA:2311
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Ectopic ossification, Elevated circulating parathyroid h... ORPHA:79444
Lead Poisoning
Decreased male libido, Imbalanced hemoglobin synthesis, Cranial hyperostosis, Abnormality of the ... ORPHA:330015
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Osteopoikilosis, Diabetes mellitus ORPHA:94063
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation OMIM:611134
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Precocious puberty, Small pituitary gland, Decreased circula... ORPHA:739
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Decreased testicular size, Joint stiffness, Hip contracture, Wrist ... ORPHA:800
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly ORPHA:1908
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Meckel Syndrome, Type 2
Encephalocele, Anencephaly, Bile duct proliferation, Meningocele OMIM:603194
Bjornstad Syndrome
Hypogonadism OMIM:262000
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de... ORPHA:90652
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Cryptorchidism, Congenital hypoparathyroidism, Hypoparathyroidism, Hypopla... ORPHA:2323
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Optic neuropathy, Optic atrophy OMIM:259900
Desmosterolosis
Joint contracture of the hand, Ambiguous genitalia, female, Ambiguous genitalia, male, Generalize... OMIM:602398
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid g... ORPHA:99867
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Umb... ORPHA:534
Pagod Syndrome
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Female pseudohermaph... ORPHA:991
Acromelic Frontonasal Dysplasia
Hypopituitarism, Encephalocele, Cryptorchidism, Anterior pituitary hypoplasia, Meningocele ORPHA:1827
Wildervanck Syndrome
Meningocele ORPHA:3456
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Bardet-Biedl Syndrome 12
Hypogonadism, Vaginal atresia, Hydrometrocolpos OMIM:615989
Humero-Radial Synostosis
Meningocele ORPHA:3265
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios... ORPHA:89936
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Joint hypermobility OMIM:617101
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation OMIM:259775
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Situs inversus totalis, Absent outer dynein arms, Male infertility OMIM:244400
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Czeizel-Losonci Syndrome
Myelomeningocele, Hypoplastic nipples, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia, Podagra OMIM:300322
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Azoospermia, Mitral valve cal... ORPHA:2072
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye... OMIM:260400
Waardenburg Syndrome, Type 4C
Hypogonadism, Cryptorchidism, Lacrimal gland hypoplasia OMIM:613266
Pelvis-Shoulder Dysplasia
Hydranencephaly, Ambiguous genitalia, Hydrocephalus, Spina bifida ORPHA:2839
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Pancytopenia, Leukopenia, Secondary hyperparathyroidism, Retinal atrophy, Osteopet... ORPHA:2785
Sclerosteosis 1
Irregular menstruation, Optic atrophy, Facial palsy secondary to cranial hyperostosis, Sclerotic ... OMIM:269500
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral dens... OMIM:620558
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Thrombocytopeni... OMIM:620185
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Cryptorchidism, Spina bifida ORPHA:2874
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Female infertility, Lymphedema, Abnormality of the ovary, Hyperinsulinemi... ORPHA:99413
Turner Syndrome
Hypoplastic left heart, Female infertility, Lymphedema, Abnormality of the ovary, Hyperinsulinemi... ORPHA:881
Mosaic Monosomy X
Hypoplastic left heart, Female infertility, Lymphedema, Abnormality of the ovary, Hyperinsulinemi... ORPHA:99228
Monosomy X
Hypoplastic left heart, Female infertility, Lymphedema, Abnormality of the ovary, Hyperinsulinemi... ORPHA:99226
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Lateral Meningocele Syndrome
Meningocele, Cryptorchidism, Umbilical hernia ORPHA:2789
Trisomy 20P
Umbilical hernia, Cryptorchidism, Spina bifida, Macroorchidism, Hypospadias ORPHA:261318
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Splenomegaly, Osteopetrosis, Anemia, Craniosynostosis, Reduced bone mine... ORPHA:667
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Cryptorchidism, Hypochromic microcytic anemia, Shawl scrotum, Micropenis, Reduced... OMIM:301040
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Joint hypermobility ORPHA:2714
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele, Cryptorchidism, Umbilical hernia OMIM:130720
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Cloacal Exstrophy
Myelomeningocele, Abnormal fallopian tube morphology, Spina bifida, Abnormal clitoris morphology,... ORPHA:93929
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Primary Hyperoxaluria
Optic disc pallor, Generalized osteosclerosis, Optic atrophy, Recurrent fractures ORPHA:416
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Vacterl With Hydrocephalus
Cryptorchidism, Abnormal fallopian tube morphology, Hydrocephalus, Spina bifida, Aqueductal stenosis ORPHA:3412
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop... ORPHA:99776
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele OMIM:614424
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Williams Syndrome
Synostosis of joints, Osteopenia, Cholelithiasis, Precocious puberty, Joint stiffness, Type II di... ORPHA:904
Neu-Laxova Syndrome
Hypogonadism, External genital hypoplasia, Ambiguous genitalia, Spina bifida ORPHA:2671
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Sclerosis of skull base, Hypoplastic labia minora... OMIM:269150
Alkaptonuria
Joint stiffness, Hemolytic anemia, Black pigment gallstones, Increased susceptibility to fracture... ORPHA:56
Diphallia
Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Ectopic scrotum, Cryptorchid... ORPHA:227
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal... ORPHA:63259
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Dilated cardiomyopathy, Decreased response to growt... ORPHA:273
Fliedner-Zweier Syndrome
Meningocele OMIM:620511
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Trisomy 18
Abnormal morphology of female internal genitalia, Cryptorchidism, Spina bifida, Holoprosencephaly... ORPHA:3380
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Cerebral edema, Hypospadias ORPHA:3063
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida, Aplasia of the vagina OMIM:193500
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Oeis Complex
Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitali... OMIM:258040
Cerebrocostomandibular Syndrome
Myelomeningocele, Hydranencephaly, Spina bifida, Meningocele ORPHA:1393
Microphthalmia, Syndromic 2
Hypospadias, Adrenal insufficiency, Septate vagina, Cryptorchidism, Contracture of the proximal i... OMIM:300166
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Hypospadias, Occipital encephalocele, Supernumerary nipple ORPHA:397715
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism, Meningocele ORPHA:2879
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Lathosterolosis
Hypoplasia of penis, Meningocele ORPHA:46059
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Anencephaly, Hydrocephalus, Occipital meningocele OMIM:616546
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Hallermann-Streiff Syndrome
Cryptorchidism, Spina bifida OMIM:234100
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Spina bifida, Hydrocephalus, Ovarian carcinoma OMIM:109400
Noonan Syndrome 1
Chylothorax, Lymphedema, Hypogonadism, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular s... OMIM:163950
Acromelic Frontonasal Dysostosis
Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Cryptorchidism, Short umbilical cord, Neonatal death, Spina bifi... OMIM:256520
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Primary adrenal insuff... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Primary adrenal insuff... ORPHA:363958
Pierson Syndrome
Retinal hemorrhage, Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular sy... OMIM:609049
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Short umbilical cord, Hydrocephalus, Spina bifida, Spina bifida ... ORPHA:2369
Neu-Laxova Syndrome 2
Spina bifida OMIM:616038
22Q11.2 Deletion Syndrome
Cholelithiasis, Abnormality of the uterus, Umbilical hernia, Cryptorchidism, Hypoplasia of the th... ORPHA:567
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Holoprosencephaly 2
Anterior pituitary agenesis, Chorioretinal coloboma, Adrenal hypoplasia, Remnants of the hyaloid ... OMIM:157170
Cystic Fibrosis
Cor pulmonale, Dehydration, Male infertility OMIM:219700
Nail-Patella Syndrome
Spina bifida OMIM:161200
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Spina bifida ORPHA:2308
Holoprosencephaly 9
Anterior pituitary agenesis, Alobar holoprosencephaly, Decreased response to growth hormone stimu... OMIM:610829
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Campomelic Dysplasia
Spinal dysraphism, Hydrocephalus, Spina bifida, Hypospadias, Sex reversal OMIM:114290
Aicardi Syndrome
Precocious puberty, Spina bifida OMIM:304050
Rubinstein-Taybi Syndrome 1
Bilateral cryptorchidism, Cryptorchidism, Premature thelarche, Spina bifida, Shawl scrotum, Spina... OMIM:180849
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Spina bifida ORPHA:508498
Fibular Hemimelia
Spina bifida ORPHA:93323
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism, Retinal detachment, Delayed puberty, Remnants of ... ORPHA:649
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Eosinophilia, Pancreatic cysts, Spina bifida OMIM:274000
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Panhypopituitarism, Hydrocephalus, Holopro... OMIM:610828
Neurofibromatosis, Type I
Pheochromocytoma, Spina bifida, Hydrocephalus, Parathyroid adenoma, Aqueductal stenosis OMIM:162200
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Femoral-Facial Syndrome
Encephalocele, Cryptorchidism, Hypoplastic labia majora, Maternal diabetes, Spina bifida, Micropenis OMIM:134780
Neuroocular Syndrome 1
Lens coloboma, Iris coloboma, Remnants of the hyaloid vascular system, Hyperextensibility of the ... OMIM:619539
Vater/Vacterl Association
Patent urachus, Hypospadias, Occipital encephalocele, Spina bifida OMIM:192350
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Cryptorchidism, Hydrocephalus, Spina bifida, Stillbirth, Hypospadias OMIM:304120
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Occipital meningocele, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced... OMIM:276820
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele OMIM:267750
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Spina bifida OMIM:619480
Cutis Laxa, Autosomal Recessive, Type Ib
Spina bifida, Neonatal death OMIM:614437
Arima Syndrome
Occipital meningocele OMIM:243910
Marfan Syndrome
Meningocele ORPHA:558

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 Dnmt3l

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 Dnmt3l.

No publications found that use IMPC mice or data for Dnmt3l.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dnmt3ltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) ES Cells
Dnmt3ltm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Dnmt3ltm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dnmt3ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dnmt3lem1(IMPC)Bay Exon Deletion Mice
Dnmt3ltm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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