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Gene: Mns1 MGI:107933

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
meiosis-specific nuclear structural protein 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mns1 mutations

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

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

The table below shows human diseases associated to Mns1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Situs inversus totalis OMIM:618948

The table below shows human diseases predicted to be associated to Mns1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Chroni... OMIM:620356
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 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 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
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
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
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
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
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
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
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 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
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
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
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 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
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
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
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
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Absent inner dynein arms, Chronic bronchitis,... OMIM:613807
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... OMIM:617091
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Bronchiectasis, Abnormal central microtubular pair morphology o... OMIM:612649
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Abnormal central microt... OMIM:612650
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Situs inversus totalis, Ab... OMIM:613808
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ... OMIM:620032
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Infer... OMIM:613193
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Chronic bronchitis, Situs inversus totalis, Absent ou... OMIM:614874
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Infertility, Absent res... OMIM:616481
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
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Absent/shortened outer dynein arms, Abnormal respiratory motile... OMIM:610852
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Situs inversus totalis, Absent outer dynein arms, Bronchiectasi... OMIM:615500
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Abnormal respiratory motile cilium morphology, Recurrent sinusitis OMIM:612518
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Absent outer dynein arms, Azoospermia, Infertility OMIM:618300
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Situs inversus t... OMIM:615505
Ciliary Dyskinesia, Primary, 9
Male infertility, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Re... OMIM:612444
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium mor... ORPHA:922
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... OMIM:618801
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dynein arm defect of re... OMIM:614679
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bron... OMIM:620197
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Primary hypothyroidism OMIM:225050
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
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
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Ciliary Dyskinesia, Primary, 41
Bronchiectasis, Infertility, Recurrent sinusitis, Immotile sperm OMIM:618449
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bron... OMIM:614935
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias ORPHA:250994
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent... OMIM:615444
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Absent outer dynein arms, Bronchiectasis OMIM:614017
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis... OMIM:244400
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hyp... ORPHA:2183
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent... OMIM:606763
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Infertility, Absent inner and outer dynein arms OMIM:618063
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... ORPHA:8
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Absent outer dynein ar... OMIM:616037
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Nasal polyposis, Peribronchovascular inters... ORPHA:244
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Abnormal response to gonad... ORPHA:649929
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Hypogonadism, Delayed puberty ORPHA:141333
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recur... OMIM:300991
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Reduced sperm motility OMIM:619436
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Dextrocardia
Abnormal reproductive system morphology, Situs inversus totalis, Hydrocephalus, Abnormal lung lob... ORPHA:1666
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Holoprosencephaly OMIM:300706
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly OMIM:618577
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc... ORPHA:254516
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Recurrent pneumonia, B... OMIM:608647
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly OMIM:618709
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Hydrocephalus, Long penis ORPHA:1672
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:604213
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Reduced sperm motility OMIM:602271
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Situs inversus totalis, Absent outer dyn... OMIM:615067
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly OMIM:218350
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Pleural effusion, Testi... OMIM:235200
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Situs inversus totalis OMIM:618948
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus ORPHA:1237
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly OMIM:175700
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter... ORPHA:1926
Temple Syndrome
Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Hydrocephalus, Decrease... OMIM:616222
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Hypospadias, Hydrocephalus ORPHA:171839
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom... OMIM:609757
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Acalvaria
Spina bifida, Hydrocephalus, Abnormal lung lobation, Abnormality of neuronal migration, Holoprose... ORPHA:945
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Reduced sperm motility OMIM:615434
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pulmonary fibrosis OMIM:618165
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... ORPHA:3376
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia, Micropenis, Anterior hypopituitarism OMIM:241800
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:77298
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Gonadal dysgenesis, male ORPHA:2075
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Vaginal a... ORPHA:3301
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus, Situs inversus totalis OMIM:619607
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, A... OMIM:617053
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology ORPHA:2189
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Lissencephaly, Dandy-Walker malformation OMIM:612938
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Walker-Warburg Syndrome
Hypoplasia of penis, Ventriculomegaly, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus,... ORPHA:899
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pachygyria, Pulmonary hypoplasia OMIM:618174
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:601499
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:1647
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Abnormal lung lobation, Hypogonadism, Micropenis, ... OMIM:300514
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly ORPHA:352682
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Simplified gyral pattern OMIM:619302
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalu... ORPHA:2166
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly ORPHA:2185
Trisomy 1Q
Small scrotum, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Ventriculomegaly ORPHA:261344
H Syndrome
Diabetes mellitus, Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Azoospermia, Hypogonadis... ORPHA:168569
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Distal Triplication 15Q
Abnormal external genitalia, Hydrocephalus, Hydrocele testis, Pulmonary hypoplasia, Dandy-Walker ... ORPHA:314588
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Hydrocephalus, Bilobed ... OMIM:612284
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly OMIM:614969
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Peripheral pulmonary artery stenosis OMIM:613001
Emanuel Syndrome
Recurrent respiratory infections, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Recurrent sinu... OMIM:609029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Type II lissencephaly OMIM:614830
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Reduced progressive sperm motility OMIM:619608
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Pulmonary hypoplasia ORPHA:1865
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Pulmonary hypoplasia, Abnormal ... ORPHA:3412
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Hypothyroidism, Ventric... ORPHA:1812
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Emanuel Syndrome
Recurrent respiratory infections, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypogonadism, ... ORPHA:96170
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Micropenis, Hydrocephalus, Supernumerary nipple OMIM:619951
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Pseudotrisomy 13 Syndrome
Encephalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosence... OMIM:264480
Fried Syndrome
Hydrocephalus ORPHA:85335
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... OMIM:615191
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Hydrocephalus, Micropenis, Gray matter heterotopia, Lissencephal... OMIM:617822
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Type II lissencephaly ORPHA:324416
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Pneumonia, Bronchitis, Resp... ORPHA:125
Kleeblattschaedel
Hydrocephalus OMIM:148800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Simplified gyral pattern, Lissencepha... OMIM:613153
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Focal polymicrogyria, Cryptorchidism, Hydrocephal... OMIM:612651
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus OMIM:210350
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Aplasia/Hypoplasia of the lungs,... ORPHA:93274
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe ORPHA:1555
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypospadias ORPHA:2409
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hydroceph... OMIM:220210
Coccidioidomycosis
Abnormal sperm morphology, Pneumonia, Abnormality of the endocrine system, CSF pleocytosis, Hydro... ORPHA:228123
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Desmosterolosis
Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, Anomalous pulmonary... ORPHA:35107
3C Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Ventriculomegaly, Hypospadias, Adrenal hyp... ORPHA:7
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus, Ambiguous genitalia,... OMIM:257300
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Lissencephaly ORPHA:1528
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:1834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Cryptorchidism, Men... OMIM:236670
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Abnormality of the parathyroid gland, Hydrocepha... ORPHA:2969
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:602501
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus, Pulmonary hypoplasia, Ventriculomegaly ORPHA:2655
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Jacobsen Syndrome
Recurrent respiratory infections, Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia... OMIM:147791
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Cholelithiasis, Hydrocephalus OMIM:614886
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus ORPHA:2635
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... OMIM:258040
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus, Elevated circulating thyroid-stimulating hormone concentration, Ir... OMIM:101800
Meckel Syndrome
Encephalocele, True hermaphroditism, Pancreatic fibrosis, Situs inversus totalis, Cryptorchidism,... ORPHA:564
Whipple Disease
Hydrocephalus, Pleuritis, Hypothyroidism, Erectile dysfunction ORPHA:3452
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Polymicrogyria ORPHA:83473
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly, Type II lissencephaly ORPHA:272
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Fg Syndrome Type 1
Hypospadias, Cryptorchidism, Hydrocephalus, Small pituitary gland, Ventriculomegaly ORPHA:93932
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Abnormal lung lobation, Hydrocephalus OMIM:617667
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hypospadias, Hydrocephalus, Anencephaly, Pulmonary hypoplasia ORPHA:1335
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... ORPHA:91350
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Occipital meningocele, Micropenis, Polymicrogyr... OMIM:616546
Rhombencephalosynapsis
Hydrocephalus, Abnormality of the uterus, Ventriculomegaly ORPHA:59315
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele OMIM:130720
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Hydrocephalus, Oligozoospermia, Lissencephaly, Pulmonary hypo... ORPHA:3310
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Hypospadias, Pulmonary hypoplasia OMIM:313850
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Papillary cystad... OMIM:193300
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Situs inversus totalis, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism... ORPHA:1908
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Desmosterolosis
Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Total anomalous pulmonary ... OMIM:602398
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Gracile Bone Dysplasia
Micropenis, Hydrocephalus OMIM:602361
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... ORPHA:54595
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... OMIM:309801
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Polymicrogyria, Type II lissencephaly OMIM:615181
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus ORPHA:250989
Monosomy 18Q
Bilateral cryptorchidism, Hydrocephalus, Micropenis, Hypothyroidism, Secondary growth hormone def... ORPHA:1600
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Gray matter h... ORPHA:370959
Trisomy 8P
Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract infections, Abnormal lung lobati... ORPHA:264450
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... ORPHA:322
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Trisomy 17P
Hypoplasia of penis, Hydrocephalus ORPHA:261290
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora OMIM:207410
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Aqueductal stenosis, Cryptorch... OMIM:620305
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Diabetes mellitus, Cryptorchidism, Hydrocephalus, Panhypopitu... ORPHA:2162
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Uterine leiomyoma, Irregular menstruation, Hydrocephalus OMIM:616482
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Holoprosencephaly 9
Anterior pituitary hypoplasia, Abnormal cortical gyration, Decreased response to growth hormone s... OMIM:610829
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,... OMIM:249000
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Hydrocephalus, Peripheral pulmonary ... OMIM:273395
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Ven... OMIM:123790
Adams-Oliver Syndrome 2
Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation OMIM:614219
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Cryptorchidism, Hydrocephalus, Hypospadias OMIM:305450
Cryptococcosis
Pneumonia, Nodular pattern on pulmonary HRCT, Hydrocephalus, Pleural effusion, Prostatitis ORPHA:1546
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:1860
Fanconi Anemia
Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydrocephalus, Azoosper... ORPHA:84
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Hydrocephalus, Micropenis ORPHA:163979
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Short-Rib Thoracic Dysplasia 12
Atelectasis, Hydrocephalus, Anencephaly, Holoprosencephaly, Hypoplastic nipples, Pulmonary hypopl... OMIM:269860
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Hypoplastic male external genitalia OMIM:608091
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... ORPHA:2658
Joubert Syndrome
Encephalocele, Situs inversus totalis, Hydrocephalus, Abnormality of neuronal migration, Abnormal... ORPHA:475
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly, Periventricular heterotopia OMIM:619833
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus OMIM:182212
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Hydrocephalus, Pneumothorax, Chylothorax, Emphysem... ORPHA:538
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy OMIM:207950
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Annular pancreas, Micropenis OMIM:227646
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Bronchiectasis, Abd... OMIM:618699
Fraser Syndrome 1
Encephalocele, Hypospadias, Abnormal cortical gyration, Cryptorchidism, Myelomeningocele, Hydroce... OMIM:219000
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Micropenis, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
7Q11.23 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Simplified gyral pattern, Aplasia/Hypoplasia of the f... ORPHA:96121
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus, Pulmonary hypoplasia OMIM:187600
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Ventriculome... ORPHA:2322
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Abnormal pulmonary interstitial morphology, Azoospermia, Pulmonary fibrosis, Delay... ORPHA:2072
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Apert Syndrome
Cryptorchidism, Hydrocephalus, Vaginal atresia, Ventriculomegaly OMIM:101200
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Periventricular heterotopia, Precociou... OMIM:270400
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1340
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormality of female external ge... ORPHA:235
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Hypoplastic nipples, Pulmonary hypoplasia, Spina b... ORPHA:2437
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Aymé-Gripp Syndrome
Cryptorchidism, Hydrocephalus, Breast hypoplasia, Ventriculomegaly ORPHA:1272
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... OMIM:615219
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract infect... OMIM:602535
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:603387
Otopalatodigital Syndrome Type 2
Encephalocele, Hypospadias, Hydrocephalus, Myelomeningocele, Pulmonary hypoplasia ORPHA:90652
B4Galt1-Cdg
Hydrocephalus, Hypothyroidism, Dandy-Walker malformation ORPHA:79332
Hogue-Janssen Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly ORPHA:2462
Coach Syndrome 2
Hydrocephalus OMIM:619111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Ventriculomegaly, Hydr... OMIM:614643
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Hydrocephalus OMIM:619512
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Abnormal cortical gyration, Ventriculomegaly OMIM:614576
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydrocephalus, Hydranencephaly, Polymicrogyria, Ventriculomegaly OMIM:225790
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker malformation, Ven... OMIM:605627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Lissencephaly, Agyria, Type II lissencephaly OMIM:615249
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... ORPHA:2495
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Hydrocephalus, Pulmonary hypoplasia OMIM:314390
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Pulmonary hypoplasia OMIM:208150
Crouzon Syndrome
Hydrocephalus ORPHA:207
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:102500
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Hydrocephalus, Ab... ORPHA:2556
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Colpocephaly OMIM:620156
Alexander Disease
Diabetes mellitus, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Hypothyroidism ORPHA:58
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Dandy-Walker mal... OMIM:611134
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Ovarian neoplasm ORPHA:87
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:60040
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Hypospadias, Decreased response to growth hormone stimulation t... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Hypospadias, Decreased response to growth hormone stimulation t... ORPHA:363958
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Periventricular heterotopia, Cryptorchidism, Hydrocephalus, Pneumot... OMIM:612289
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Situs inversus totalis, Epispadias, Hydrocephalus ORPHA:2461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hydrocephalus, Lissencephaly, Holoprosencephaly, Pachygyria, Polymicrogyri... OMIM:253800
Tetrasomy 5P
Recurrent respiratory infections, Hydrocephalus, Pulmonary hypoplasia ORPHA:3309
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Tenorio Syndrome
Hydrocephalus, Recurrent pneumonia, Hypoinsulinemia, Ventriculomegaly OMIM:616260
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Spina bifida, Cryptorchidism, Atelectasis, Hydr... ORPHA:567
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261337
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Aplasia of the vagina, Ventriculomegaly, Aplasia of the uterus ORPHA:457284
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Hypopituitarism, Hypothyroidism ORPHA:90065
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Bile duct proliferation, Dandy-Walker malformation OMIM:607361
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:221120
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Abnormality of neur... ORPHA:2318
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus ORPHA:1106
Peho Syndrome
Recurrent respiratory infections, Hydrocephalus, Ventriculomegaly ORPHA:2836
Nephronophthisis 18
Hydrocephalus OMIM:615862
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Periventricular heterotopia OMIM:618476
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Joubert Syndrome With Renal Defect
Abnormality of the hypothalamus-pituitary axis, Encephalocele, Polymicrogyria, Hydrocephalus ORPHA:220497
Kabuki Syndrome 1
Premature thelarche, Cryptorchidism, Hydrocephalus, Congenital hypothyroidism, Lateral ventricle ... OMIM:147920
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Bifid uterus, Abnormal lung lobation, Anencephaly, Gray ... OMIM:236680
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ovarian cyst, Hyperparathyroidism, Ventriculomegaly OMIM:618188
Congenital Sialidosis Type 2
Respiratory tract infection, Hydrocephalus ORPHA:93400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi... OMIM:613154
Fanconi Anemia, Complementation Group L
Micropenis, Hydrocephalus, Aplasia of the uterus OMIM:614083
Cockayne Syndrome A
Cryptorchidism, Irregular menstruation, Thymic hormone decreased, Hypogonadism, Normal pressure h... OMIM:216400
Hemangioblastoma
Hydrocephalus ORPHA:252054
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hyd... OMIM:619895
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Joubert Syndrome With Ocular Defect
Abnormality of the hypothalamus-pituitary axis, Encephalocele, Polymicrogyria, Hydrocephalus ORPHA:220493
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Hydrocephalus, Pheochrom... ORPHA:636
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Cystic Fibrosis
Male infertility, Nasal polyposis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Br... OMIM:219700
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly OMIM:616538
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly OMIM:614195
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Plasminogen Deficiency, Type I
Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo... OMIM:217090
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Spina bifida occulta, Congenital hypothyroidism, Hypo... ORPHA:709
Adams-Oliver Syndrome
Pulmonary artery atresia, Encephalocele, Hydrocephalus ORPHA:974
Orofaciodigital Syndrome I
Abnormal cortical gyration, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Gray matter hetero... OMIM:311200
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Histiocytoid Cardiomyopathy
Hydrocephalus, Pulmonary edema, Polycystic ovaries ORPHA:137675
Thakker-Donnai Syndrome
Communicating hydrocephalus, Rectovaginal fistula ORPHA:1780
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele ORPHA:2044
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Muenke Syndrome
Hydrocephalus ORPHA:53271
Monosomy 9Q22.3
Hydrocephalus, Ovarian fibroma, Ventriculomegaly ORPHA:77301
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Microlissencephaly, Gray matter hetero... OMIM:210710
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Anomalous pulmonary venous return ORPHA:2184
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Basal Cell Nevus Syndrome 1
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida OMIM:109400
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Simplified gyral pattern, Lateral ventricle dilatation, Normal pressure hydrocephalus, Lissenceph... ORPHA:300570
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal external genitalia, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, ... OMIM:607872
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Bicornuate uterus, Polymicrogyria OMIM:154400
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, R... OMIM:107480
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Recurrent upper respiratory tract infections, Chronic bronchitis OMIM:253220
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Micropenis, Pachygyria, Cli... ORPHA:3472
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Type II lissencephaly, Hydrocephalus, Pachygyria, Ventriculomegaly OMIM:613150
Arachnoiditis
Hydrocephalus ORPHA:137817
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Recurrent pneumonia OMIM:309900
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Recurrent upper respiratory tract infections, Spinal dy... OMIM:114290
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Cockayne Syndrome B
Cryptorchidism, Micropenis, Normal pressure hydrocephalus OMIM:133540
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Hydrocephalus, Hypospadias, Delayed puberty ORPHA:955
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Achondroplasia
Hydrocephalus, Pulmonary hypoplasia OMIM:100800
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasia of the uterus, Ventriculo... OMIM:194190
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypospadias, Pneumonia, Cryptorchidism, Hydrocephalus, Long pen... OMIM:264090
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Abnormali... ORPHA:1454
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Abnormality of the endocrine system, Hydrocephal... ORPHA:2356
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Ventriculomegaly ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:157
Hurler Syndrome
Recurrent respiratory infections, Hydrocephalus OMIM:607014
Achondroplasia
Hydrocephalus ORPHA:15
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Mild fet... OMIM:619841
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Noonan Syndrome 1
Male infertility, Hypospadias, Cryptorchidism, Hypogonadism, Chylothorax OMIM:163950
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Hydrocephalus, Lateral ventricle dilatation, Dilated third vent... OMIM:619575
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus OMIM:620351
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Focal Dermal Hypoplasia
Supernumerary nipple, Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Hypop... OMIM:305600
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Hydrocephalus, Pulmonary hypoplasia, Repeated pneumothoraces ORPHA:536467
Icf Syndrome
Communicating hydrocephalus, Recurrent respiratory infections ORPHA:2268
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Hydrocephalus, Decreased response to growth hormone stimulation test OMIM:616007
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Medulloblastoma
Neoplasm of the lung, Hydrocephalus ORPHA:616
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Hydrocephalus ORPHA:579
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Hypospadias, Hydrocephalus, Delayed puberty, Micropenis, Decreased CSF 5-methyltet... OMIM:619475
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Hydrocephalus, Aspiration pneumo... ORPHA:581
Raine Syndrome
Hydrocephalus, Pulmonary hypoplasia OMIM:259775
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Hurler Syndrome
Recurrent respiratory infections, Hydrocephalus ORPHA:93473
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hydrocephalus, Hypop... OMIM:261540
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Micropenis, Ventriculomegaly ORPHA:457359
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hydrocephalus, Hypospadias, Spina bifida OMIM:304120
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Pancrea... OMIM:312870
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Right atrial isomerism, Aqueductal stenosis, Myelomeningocele, Hydroceph... OMIM:306955
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus, Recurrent upper respiratory tract infections, Pneumonia OMIM:253200
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus, Cryptorchidism, Hypospadias, Hypothyroidism OMIM:619325
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Hydrocephalus, Long penis, Frontal encephaloc... OMIM:268300
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, Decreased response to growth hormone... ORPHA:3455
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Hydrocephalus ORPHA:505248
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Split Cord Malformation
Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep... ORPHA:573278
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Isotretinoin-Like Syndrome
Hydrocephalus, Abnormality of the pulmonary veins ORPHA:2306
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Annular pancreas, Hydrocephalus OMIM:618162
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Primary hypothyroidism, Delayed puberty, Male hypogonadism OMIM:219800
Baller-Gerold Syndrome
Hydrocephalus, Perineal fistula, Rectovaginal fistula, Spina bifida occulta, Polymicrogyria OMIM:218600
Mohr Syndrome
Hydrocephalus OMIM:252100
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Glycogen Storage Disease Of Heart, Lethal Congenital
Pleural effusion, Hydrocephalus, Pulmonary edema OMIM:261740
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Absent nipple OMIM:104350
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Chylothorax ORPHA:137667
Gaucher Disease
Hydrocephalus, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Delayed puberty, V... ORPHA:355
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Stromme Syndrome
Hydrocephalus OMIM:243605
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Osteogenesis Imperfecta
Noncommunicating hydrocephalus, Hydrocephalus, Pulmonary hypoplasia, Ventriculomegaly ORPHA:666
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Tuberous Sclerosis Complex
Respiratory tract infection, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplas... ORPHA:805
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Pneumonia ORPHA:309282
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid adenoma OMIM:162200
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Pulmonary artery stenosis, Hydrocephalus ORPHA:667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Hydrocephalus, Pachygyria, Polymicrogyria, Type II lissencephaly OMIM:253280
Costello Syndrome
Hydrocephalus, Pneumothorax, Ventriculomegaly OMIM:218040
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta ORPHA:2369
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Recurrent respiratory infections, Anterior pituitary hypoplasia, Sit... OMIM:619534
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Hydrocephalus OMIM:609192
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Hydrocephalus, Spontaneous pneumothorax OMIM:610168
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Recurrent upper respiratory tract infections ORPHA:580
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia OMIM:164210

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 Mns1

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 Mns1.

No publications found that use IMPC mice or data for Mns1.

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
Mns1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mns1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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