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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
small testis Dnmt3ltm1b(EUCOMM)Hmgu HOM Early adult 0.00
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
persistence of hyaloid vascular system Dnmt3ltm1b(EUCOMM)Hmgu HOM Early adult 6.97×10-05
increased mean corpuscular hemoglobin Dnmt3ltm1b(EUCOMM)Hmgu HOM   Early adult 8.34×10-05

Download data as:  TSV  XLS

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

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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Eye Morphology

VIP of left fundus

18 Images

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Eye Morphology

VIP of right fundus

17 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Eye Morphology

VIP of right eye

17 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

18 Images

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X-ray

XRay Images Skull Lateral Orientation

9 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 14
Oocyte maturation arrest, Female infertility OMIM:620276
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 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 17
Male infertility OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
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 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
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
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Cone-Rod Dystrophy 1
Hypogonadism OMIM:600624
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 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism ORPHA:1180
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
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, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Deafness, Congenital, With Total Albinism
Hypogonadism OMIM:220900
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Osteomesopyknosis
Increased bone mineral density, Infertility OMIM:166450
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
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
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Gonadal dysgenesis OMIM:615041
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility OMIM:300719
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop... OMIM:239100
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Bardet-Biedl Syndrome 11
Hypogonadism OMIM:615988
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Spastic Paraparesis And Deafness
Hypogonadism OMIM:312910
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis ORPHA:85274
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Optic disc pallor, Increased bone mineral density, Recurrent fractures, Splenome... OMIM:611490
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism OMIM:254000
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Cataract-Deafness-Hypogonadism Syndrome
Hypogonadism ORPHA:1383
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Osteopetrosis, Autosomal Recessive 9
Papilledema, Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Osteopetros... OMIM:620366
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Optic atrophy, Craniosynostosis ORPHA:178377
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Isolated Osteopoikilosis
Increased bone mineral density, Abnormally ossified vertebrae, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Opt... ORPHA:3152
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... ORPHA:210110
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hypogonadotropic hypogonadism OMIM:615269
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... OMIM:122860
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spastic Paraparesis-Deafness Syndrome
Hypogonadism ORPHA:2815
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, External genital hypoplasia OMIM:615983
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:614962
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
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
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:261483
Deafness, Conductive, With Malformed External Ear
Hypogonadism OMIM:221300
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Bardet-Biedl Syndrome 10
Hypogonadism OMIM:615987
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... OMIM:212840
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Joubert Syndrome 15
Ambiguous genitalia, Micropenis, Exencephaly OMIM:614464
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hypogonadotropic hypogonadism OMIM:615266
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Image Syndrome
Hypogonadism, Cryptorchidism, Hypospadias, Adrenal hypoplasia ORPHA:85173
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty ORPHA:141333
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism ORPHA:88637
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Increased bone mineral density, Thrombocytopenia ORPHA:1237
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Hypogonadism, Decreased fertility ORPHA:2233
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia OMIM:615982
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... OMIM:259710
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... ORPHA:846
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Delayed puberty OMIM:615270
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Crandall Syndrome
Hypoplasia of penis, Abnormal testis morphology, Hypogonadism ORPHA:202
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormal... ORPHA:232
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Opti... OMIM:259700
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... ORPHA:848
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Isolated Hemihyperplasia
Cryptorchidism, Myelomeningocele ORPHA:2128
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decreased fertility, Hypogo... ORPHA:2234
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Björnstad Syndrome
Hypogonadism ORPHA:123
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ... ORPHA:3363
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia ORPHA:363741
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Absence of pubertal development OMIM:615267
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea OMIM:602390
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Caudal Duplication
Abnormal penis morphology, Spina bifida, Cryptorchidism, Myelomeningocele, Uterus didelphys ORPHA:1756
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism OMIM:601794
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
X-Linked Intellectual Disability, Miles-Carpenter Type
Hypogonadism ORPHA:85283
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... OMIM:613673
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias OMIM:615985
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Female infertility, Situs inversus totalis, Hypothyroidism, Goiter OMIM:617577
Moynahan Syndrome
Hypogonadism ORPHA:2574
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Azoospermia, Impotence, Cardiomyo... OMIM:235200
Ciliary Dyskinesia, Primary, 29
Infertility OMIM:615872
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Gaucher Disease Type 1
Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomegaly, Osteoarthr... ORPHA:77259
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Osteopenia, Diabetes mellitus, Extramedullary hema... ORPHA:231222
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, External genital hypoplasia OMIM:615981
Lessel-Kubisch Syndrome
Hypogonadism OMIM:618681
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Premature ovarian insufficiency, Osteosclerosis of the base of the ... OMIM:609993
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Hypogonadism, Abnormali... ORPHA:1173
Conductive Deafness-Malformed External Ear Syndrome
Hypogonadism ORPHA:3216
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Joint h... ORPHA:628
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... OMIM:131300
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma, Increased bone mineral density, Osteopetrosis OMIM:617306
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Optic atrophy, Co... ORPHA:1782
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Bardet-Biedl Syndrome 7
Hypogonadism OMIM:615984
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:614838
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
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
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Increased bone mineral density, Delayed patellar ossification, Abnormal bone ... ORPHA:163649
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella, Situs inversus totalis OMIM:620197
Primary Ciliary Dyskinesia
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... ORPHA:244
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Sp... OMIM:259720
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... ORPHA:8
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Abnormal testis m... ORPHA:791
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Impotence, Diabetes mellitus, Hypogonadism ORPHA:79230
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism OMIM:251240
Spondyloepiphyseal Dysplasia Tarda
Retinal detachment, Increased bone mineral density, Osteoarthritis of the distal interphalangeal ... ORPHA:93284
Werner Syndrome
Abnormality of retinal pigmentation, Increased bone mineral density, Joint stiffness, Osteoporosi... ORPHA:902
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Bardet-Biedl Syndrome 22
Hypogonadism OMIM:617119
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Poems Syndrome
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Polycythemia, Sclerosis of foot bone, Abn... ORPHA:2905
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma ORPHA:281090
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Hypo... OMIM:615849
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo... OMIM:239000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Optic atrophy,... OMIM:222300
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Increased bone mineral density, Retinal calcification, Thickened... OMIM:127000
Lumbar Syndrome
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... ORPHA:83628
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Hemochromatosis, Type 2B
Hypogonadism, Secondary amenorrhea OMIM:613313
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Exencephaly, Sh... ORPHA:2211
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Polyhydramnios OMIM:160900
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Hypothyroidism, Cardiomyopathy, J... ORPHA:465508
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Decreased skull ossification, Testicular atrophy OMIM:601163
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Sim1-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, Hypogonadotropic hy... ORPHA:398079
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Imm... OMIM:614874
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Microcytic anemia, Cryptorchidism, Flexion contracture, HbH hemoglobin ORPHA:98791
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms, Situs inversus totalis OMIM:612444
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Primary ame... OMIM:600955
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
X-Linked Intellectual Disability, Seemanova Type
Cryptorchidism, Hypogonadism ORPHA:85323
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Crypto... ORPHA:33364
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Situs inversus totalis, Abnormal axonemal organizatio... OMIM:613807
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Optic atrophy, Increased susceptibility t... OMIM:224300
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... ORPHA:3376
Pycnodysostosis
Joint laxity, Decreased serum insulin-like growth factor 1, Increased bone mineral density, Decre... ORPHA:763
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Increased bone mineral density, Hypospadias, External genital hypoplas... ORPHA:2658
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Thrombocytopenia OMIM:613987
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Camurati-Engelmann Disease, Type 2
Hypogonadism, Delayed puberty OMIM:606631
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Extramedullary hematopoiesis, Decreased mean corpuscular h... ORPHA:231226
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism ORPHA:36913
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Decreased response to growth hormone stimulation test, Pseudohypo... ORPHA:94089
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Extramedullary hematopoiesis, Decreased mean corpuscular h... ORPHA:231214
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Sirenomelia
Ambiguous genitalia, Spina bifida, Sirenomelia ORPHA:3169
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Pancreatic steatosis,... OMIM:617052
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, O... OMIM:618476
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Cryptorchidism, Meningocele, Abnormal morphology of female internal genitalia, Umbil... ORPHA:2311
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Diabete... ORPHA:35687
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... OMIM:120200
Desmosterolosis
Ambiguous genitalia, Splenomegaly, Increased bone mineral density, Osteopetrosis ORPHA:35107
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Tracheomalacia OMIM:612561
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis,... ORPHA:300298
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms, Situs inversus totalis OMIM:614935
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Gaucher Disease
Osteopenia, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joi... ORPHA:355
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Optic atrophy, Osteopetrosis, Optic nerve comp... OMIM:612301
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Atypical Werner Syndrome
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Retinal degenerat... ORPHA:79474
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Cranial hyperostosis, Imbalanced hem... ORPHA:330015
Prader-Willi Syndrome
Small scrotum, Diabetes mellitus, External genital hypoplasia, Decreased response to growth hormo... ORPHA:739
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... ORPHA:79443
Pagod Syndrome
Encephalocele, Spina bifida, Meningocele, Agonadism, Abnormality of the uterus, Ambiguous genital... ORPHA:991
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Joint stiffness, Cryptorchidism, M... ORPHA:847
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
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... ORPHA:79444
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... ORPHA:3464
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Meckel Syndrome, Type 2
Encephalocele, Bile duct proliferation, Meningocele, Anencephaly OMIM:603194
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Patchy osteosclerosis, Cryptorchidism, Congenital hypopa... ORPHA:2323
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Hypospadias, Tarsal synostosis, Camptodactyly of finger, Carpal s... ORPHA:90652
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Optic atrophy, Optic neuropathy OMIM:259900
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Bjornstad Syndrome
Hypogonadism OMIM:262000
Acromelic Frontonasal Dysplasia
Encephalocele, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Hypopituitarism ORPHA:1827
Wildervanck Syndrome
Meningocele ORPHA:3456
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Hypogonadism, Ab... ORPHA:251066
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Diabetes insipidus, HbH hemoglobin, Macular coloboma ORPHA:423479
Humero-Radial Synostosis
Meningocele ORPHA:3265
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Prostate neoplasm, Rheum... ORPHA:99867
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism OMIM:613266
Desmosterolosis
Generalized osteosclerosis, Ambiguous genitalia, female, Ambiguous genitalia, male, Arthrogryposi... OMIM:602398
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Joint hypermobility OMIM:617101
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... ORPHA:300373
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Lesch-Nyhan Syndrome
Testicular atrophy, Podagra, Megaloblastic anemia OMIM:300322
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Communicating hydrocephalus, Situs inversus totalis OMIM:244400
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation OMIM:259775
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma, Spina bifida ORPHA:2874
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Bardet-Biedl Syndrome 12
Hypogonadism, Hydrometrocolpos, Vaginal atresia OMIM:615989
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Hypoplastic nipples, Spina bifida occulta ORPHA:2437
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida, Ambiguous genitalia ORPHA:2839
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Retinal atrophy, Recurrent fractures, Thrombocytopenia, Optic atrophy, Leukopenia, ... ORPHA:2785
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification... OMIM:260400
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Cryptorchidism ORPHA:2789
Trisomy 20P
Hypospadias, Spina bifida, Cryptorchidism, Macroorchidism, Umbilical hernia ORPHA:261318
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Abnormal heart morphology OMIM:227650
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology ORPHA:3412
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent... OMIM:620185
Sclerosteosis 1
Papilledema, Sclerotic scapulae, Optic atrophy, Irregular menstruation, Facial palsy secondary to... OMIM:269500
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Meningocele, Cryptorchidism OMIM:130720
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,... ORPHA:667
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Mosaic Trisomy 9
Hypoplasia of penis, Spina bifida, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian ... ORPHA:99776
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Lymphedema, Hashimoto... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Lymphedema, Hashimoto... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Lymphedema, Hashimoto... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Lymphedema, Hashimoto... ORPHA:99226
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Cloacal Exstrophy
Hypoplasia of penis, Spina bifida, Myelomeningocele, Abnormality of the clitoris, Abnormal fallop... ORPHA:93929
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, S... OMIM:301040
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Primary Hyperoxaluria
Optic disc pallor, Optic atrophy, Recurrent fractures, Generalized osteosclerosis ORPHA:416
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Joint hypermobility ORPHA:2714
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... ORPHA:124
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Hydrocephalus, Cryptorchidism, Cystocele, ... ORPHA:322
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele 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
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Oeis Complex
Bifid uterus, Epispadias, Myelomeningocele, Ambiguous genitalia, female, Hydrocephalus, Cryptorch... OMIM:258040
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy, Cerebral edema ORPHA:3063
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Trisomy 18
Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Abnormal morphology of female inter... ORPHA:3380
Williams Syndrome
Osteopenia, Joint laxity, Hypoplasia of penis, Increased bone mineral density, Hypogonadotropic h... ORPHA:904
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Neu-Laxova Syndrome
Ambiguous genitalia, Hypogonadism, External genital hypoplasia, Spina bifida ORPHA:2671
Fanconi Anemia
Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydrocephalus, Azoosper... ORPHA:84
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Meningocele, Aplasia of the uterus ORPHA:2879
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Increased density of long bones, Hypoplastic labia minora, Splenopanc... OMIM:269150
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
Waardenburg Syndrome, Type 1
Myelomeningocele, Aplasia of the vagina, Spina bifida OMIM:193500
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida ORPHA:1393
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele, Hypospadias, Supernumerary nipple ORPHA:397715
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 2nd toe, Retinal detachment, Hypospadias... OMIM:300166
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly, Micropenis OMIM:616546
Lathosterolosis
Hypoplasia of penis, Meningocele ORPHA:46059
Noonan Syndrome 1
Male infertility, Hypospadias, Ventricular septal defect, Lymphedema, Cryptorchidism, Hypogonadis... OMIM:163950
Hallermann-Streiff Syndrome
Cryptorchidism, Spina bifida OMIM:234100
Neu-Laxova Syndrome 1
Spina bifida, Bifid uterus, Cryptorchidism, Stillbirth, Short umbilical cord, Small placenta, Neo... OMIM:256520
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cholelithiasis, Spina bifida, Cryptorchidism, H... ORPHA:567
Basal Cell Nevus Syndrome 1
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida OMIM:109400
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Spina bifida, Testicular neop... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Spina bifida, Testicular neop... ORPHA:363958
Pierson Syndrome
Retinal detachment, Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal hemorr... OMIM:609049
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Neu-Laxova Syndrome 2
Spina bifida OMIM:616038
Jacobsen Syndrome
Cryptorchidism, Annular pancreas, Spina bifida ORPHA:2308
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Chorioretinal coloboma, Cyclopia, Di... OMIM:157170
Focal Dermal Hypoplasia
Umbilical hernia, Spina bifida ORPHA:2092
Nail-Patella Syndrome
Spina bifida OMIM:161200
Split Cord Malformation
Hypospadias, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocep... ORPHA:573278
Rubinstein-Taybi Syndrome 1
Hypospadias, Spina bifida, Premature thelarche, Bilateral cryptorchidism, Cryptorchidism, Papilla... OMIM:180849
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal OMIM:114290
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Dehydration, Primary hypothyroidism, Delayed puberty, Male h... OMIM:219800
Fibular Hemimelia
Spina bifida ORPHA:93323
Aicardi Syndrome
Precocious puberty, Spina bifida OMIM:304050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Spina bifida ORPHA:508498
Norrie Disease
Retinal detachment, Diabetes mellitus, Remnants of the hyaloid vascular system, Cryptorchidism, O... ORPHA:649
Cystic Fibrosis
Male infertility, Cor pulmonale, Dehydration OMIM:219700
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid adenoma OMIM:162200
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Aplasia of the uterus, Spina bifida OMIM:274000
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Otopalatodigital Syndrome, Type Ii
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia OMIM:304120
Neuroocular Syndrome
Hyperextensibility of the finger joints, Lens coloboma, Remnants of the hyaloid vascular system, ... OMIM:619539
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Vater/Vacterl Association
Occipital encephalocele, Hypospadias, Spina bifida, Patent urachus OMIM:192350
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Spina bifida OMIM:619480
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
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

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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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