Gene: Mns1 MGI:107933

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.

Human diseases associated with Mns1 (1 diseases)
Human diseases predicted to be associated with Mns1 (697 diseases)

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		Situs inversus totalis, Male infertility	OMIM:618948

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

Disease	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 50	Chronic bronchitis, Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein...	OMIM:620356
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he...	OMIM:618433
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Recurrent pneumonia, Abnormal male external genitalia ...	OMIM:301101
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Situs inversus totalis, Recurrent sinusitis, Reduced progressive s...	OMIM:620438
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Young Syndrome	Decreased fertility, Obstructive azoospermia, Recurrent sinopulmonary infections, Recurrent bronc...	ORPHA:3471
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Situs inversus t...	OMIM:613807
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Ciliary Dyskinesia, Primary, 34	Recurrent bronchitis, Recurrent sinusitis, Immotile sperm, Absent central microtubular pair morph...	OMIM:617091
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C...	OMIM:612649
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Ciliary Dyskinesia, Primary, 12	Abnormal central microtubular pair morphology of respiratory motile cilia, Situs inversus totalis...	OMIM:612650
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,...	OMIM:613808
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Ciliary Dyskinesia, Primary, 18	Male infertility, Abdominal situs ambiguus, Situs inversus totalis, Recurrent sinusitis, Chronic ...	OMIM:614874
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Infe...	OMIM:613193
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Ciliary Dyskinesia, Primary, 40	Azoospermia, Situs inversus totalis, Infertility, Left Isomerism, Absent outer dynein arms	OMIM:618300
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
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
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Ciliary Dyskinesia, Primary, 26	Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Reduced sperm motility, Infertil...	OMIM:615500
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Absent central microtubular pai...	OMIM:620032
Spermatogenic Failure 17	Male infertility	OMIM:617214
Ciliary Dyskinesia, Primary, 32	Absent respiratory ciliary axoneme radial spokes, Situs inversus totalis, Infertility, Recurrent ...	OMIM:616481
Young Syndrome	Congenital pulmonary airway malformation, Azoospermia, Recurrent bronchitis, Recurrent sinopulmon...	OMIM:279000
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology	OMIM:215520
Ciliary Dyskinesia, Primary, 9	Pneumonia, Male infertility, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Absent ...	OMIM:612444
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Ciliary Dyskinesia, Primary, 45	Recurrent respiratory infections, Bronchiectasis, Male infertility, Absent inner and outer dynein...	OMIM:618801
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Ciliary Dyskinesia, Primary, 6	Abnormal respiratory motile cilium morphology, Recurrent respiratory infections, Absent/shortened...	OMIM:610852
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Ciliary Dyskinesia, Primary, 28	Dynein arm defect of respiratory motile cilia, Situs inversus totalis, Recurrent sinusitis, Chron...	OMIM:615505
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Ciliary Dyskinesia, Primary, 10	Abnormal respiratory motile cilium morphology, Situs inversus totalis, Recurrent sinusitis	OMIM:612518
Familial Nasal Acilia	Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron...	ORPHA:922
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Situs inversus totalis, Recurrent sinusitis, Short sperm flagella, Recurrent res...	OMIM:620197
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia	OMIM:615703
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism	OMIM:261550
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Immotile sperm, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Deleted in azoospermia	Azoospermia	OMIM:400003
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dynein arm defect of re...	OMIM:614679
Ciliary Dyskinesia, Primary, 7	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Situs inversus t...	OMIM:611884
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Reduced sperm motility, Situs inversus totalis, Chronic bronchitis, Recurrent si...	OMIM:615444
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormal respiratory motile cilium morphology, Primary hypothyroidism	OMIM:225050
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Absent inner an...	OMIM:614935
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hyp...	ORPHA:2183
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus	OMIM:209970
Primary Ciliary Dyskinesia	Abnormal sperm motility, Ventriculomegaly, Female infertility, Nasal polyposis, Atelectasis, Male...	ORPHA:244
Ciliary Dyskinesia, Primary, 1	Pneumonia, Nasal polyposis, Atelectasis, Absent outer dynein arms, Situs inversus totalis, Recurr...	OMIM:244400
Ciliary Dyskinesia, Primary, 38	Infertility, Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms	OMIM:618063
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Bronchiectasis, Absent outer dynein arms	OMIM:614017
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc...	ORPHA:8
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Situs inversus totalis, Absent inner and outer dynein arms, Infertility, Recurre...	OMIM:606763
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections, Br...	OMIM:616037
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ...	OMIM:300200
Ciliary Dyskinesia, Primary, 46	Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Reduced sperm motility	OMIM:619436
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus, Hypospadias	ORPHA:141333
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Autosomal Recessive Spastic Paraplegia Type 46	Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A...	ORPHA:320391
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ma...	OMIM:300991
Dextrocardia	Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobation, Situs inversus tot...	ORPHA:1666
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
1Q21.1 Microduplication Syndrome	Hydrocephalus, Hypospadias, Cryptorchidism	ORPHA:250994
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:615938
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:615937
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus, Hydrocephalus	OMIM:258320
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea	OMIM:602390
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Nasal polyposis, Situs inversus totalis, Recurrent sinusitis, Chronic bronch...	OMIM:608647
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Hydrocephalus, Cryptorchidism	OMIM:601794
Spondylometaphyseal Dysplasia, Axial	Recurrent pneumonia, Reduced sperm motility	OMIM:602271
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype...	ORPHA:91351
48,Xyyy Syndrome	Recurrent upper respiratory tract infections, Primary gonadal insufficiency, Male hypogonadism, A...	ORPHA:99329
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
49,Xyyyy Syndrome	Recurrent upper respiratory tract infections, Abnormality of the testis size, Male hypogonadism, ...	ORPHA:99330
Diencephalic Syndrome	Hydrocephalus, Long penis, Abnormality of the hypothalamus-pituitary axis	ORPHA:1672
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Cryptorchidism, Frontal encephalocele	ORPHA:261102
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Situs inversus totalis, Decreased fertility, Atrial situs inver...	OMIM:615067
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus	OMIM:618709
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Chudley-Mccullough Syndrome	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:604213
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Hemochromatosis, Type 1	Azoospermia, Pleural effusion, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Imp...	OMIM:235200
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Ring Chromosome 21 Syndrome	Diabetes insipidus, Azoospermia, Amenorrhea, Infertility, Holoprosencephaly	ORPHA:1445
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility	OMIM:618948
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Lead Poisoning	Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve...	ORPHA:330015
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for...	ORPHA:261519
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas...	ORPHA:432
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Bronchiectasis, Reduced sperm motility	OMIM:615434
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Myotonic Dystrophy 2	Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati...	OMIM:602668
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia, Cryptorchidism	OMIM:618577
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De...	ORPHA:280679
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Acalvaria	Abnormal lung lobation, Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprose...	ORPHA:945
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Type II diabetes melli...	ORPHA:254516
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Micropenis, Anterior hypopituitarism, Pulmonary hypoplasia	OMIM:241800
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Male infertility	OMIM:619607
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer...	ORPHA:85450
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Hydrocephalus,...	ORPHA:168569
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Abnormal lung lobation, Hypogonadism, Hydrocephalus, Micropenis, Hypergonadotro...	OMIM:300514
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Hydrocephalus, Gray matter hetero...	OMIM:600348
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Diabetic Embryopathy	Spinal dysraphism, Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality ...	ORPHA:1926
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Optic Pathway Glioma	Precocious puberty, Hydrocephalus	ORPHA:2086
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pachygyria, Hydrocephalus, Pulmonary hypoplasia	OMIM:618174
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Temple Syndrome	Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Cryptorchidi...	OMIM:616222
Gapo Syndrome	Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea	ORPHA:2067
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly, Hypospadias, Cryptorchidism	OMIM:218350
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micropenis, Hydrocephalus, Hypospadias, Cryptorchidism	ORPHA:171839
Bone Marrow Failure Syndrome 5	Testicular atrophy, Pulmonary fibrosis, Hypogonadism	OMIM:618165
Classic Galactosemia	Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow...	ORPHA:79239
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Simplified gyral pattern	OMIM:619470
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Cryptorchidism	ORPHA:2701
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility, Situs inversus totalis	OMIM:619608
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Simplified gyral pattern	OMIM:619301
Mirage Syndrome	Microphallus, Aspiration pneumonia, Decreased testicular size, Adrenal insufficiency, Cryptorchid...	OMIM:617053
Meckel Syndrome, Type 6	Occipital encephalocele, Absent gallbladder, Bilobed right lung, Hydrocephalus, Abnormal internal...	OMIM:612284
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia	ORPHA:352682
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Simplified gyral pattern	OMIM:619302
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Congenital Hydrocephalus	Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus, Lissencephaly	ORPHA:2185
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Hydrocephalus, Ventriculomegaly, Cryptorch...	OMIM:609757
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism	ORPHA:1237
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Triploidy	Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Hypoplasia of penis, Holoprosenc...	ORPHA:3376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Ventriculomegaly, Hydrocephalus	OMIM:614830
Masa Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:303350
Bloom Syndrome	Pneumonia, Bronchitis, Azoospermia, Respiratory tract infection, Oligozoospermia, Premature ovari...	ORPHA:125
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly, Hypospadias, Cryptorchidism	OMIM:175700
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia	OMIM:614813
Bresek Syndrome	Hydrocephalus, Decreased testicular size, Cryptorchidism	ORPHA:85284
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se...	ORPHA:2232
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Alkuraya-Kucinskas Syndrome	Small scrotum, Ventriculomegaly, Pleural effusion, Hydrocephalus, Dandy-Walker malformation, Micr...	OMIM:617822
Fried Syndrome	Hydrocephalus	ORPHA:85335
Lissencephaly 5	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic...	OMIM:615191
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Vaginal a...	ORPHA:3301
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus...	ORPHA:300298
Biemond Syndrome Ii	Abnormality of the endocrine system, Hydrocephalus	OMIM:210350
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Type II lissencephaly, Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Genitopalatocardiac Syndrome	Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Gonadal dysgenesis, male, Hypospadias	ORPHA:2075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Dandy-Walker malformation, Pachygyria, Ag...	OMIM:613153
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Walker-Warburg Syndrome	Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Cryptorchidism, Abnormality of neur...	ORPHA:899
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Thanatophoric Dysplasia Type 2	Ventriculomegaly, Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia of the lun...	ORPHA:93274
Emanuel Syndrome	Ventriculomegaly, Hypogonadism, Cryptorchidism, Hydrocephalus, Micropenis, Infertility, Recurrent...	ORPHA:96170
Coccidioidomycosis	Pneumonia, Increased CSF protein concentration, Abnormality of the male genitalia, Hypoglycorrhac...	ORPHA:228123
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias	ORPHA:77298
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Cryptorchidism, Dandy-Walker malformation	OMIM:310400
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation, Cryptorchidism, Lissencephaly	OMIM:612938
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hydrocephalus, Adrenal hypoplasia, Hypospa...	OMIM:220210
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Hydrolethalus	Hydrocephalus, Abnormal fallopian tube morphology, Cryptorchidism, Anencephaly	ORPHA:2189
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Hypogonadism, Cryptorchidism, Hydrocephalus, Micropenis	ORPHA:500055
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Polymicrogyria, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	ORPHA:1647
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Cryptorchidism, Encephalocele, Ambiguous genitalia, Adrenal hypoplasia, H...	ORPHA:2166
3C Syndrome	Ventriculomegaly, Abnormality of neuronal migration, Adrenal hypoplasia, Hydrocephalus, Recurrent...	ORPHA:7
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Emanuel Syndrome	Ventriculomegaly, Cryptorchidism, Recurrent sinusitis, Hydrocephalus, Micropenis, Recurrent respi...	OMIM:609029
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Ty...	ORPHA:91
Distal Triplication 15Q	Abnormal external genitalia, Hydrocephalus, Hydrocele testis, Dandy-Walker malformation, Pulmonar...	ORPHA:314588
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Whipple Disease	Hydrocephalus, Hypothyroidism, Pleuritis, Erectile dysfunction	ORPHA:3452
Proteus-Like Syndrome	Thymus hyperplasia, Bronchogenic cyst, Abnormality of the parathyroid gland, Polycystic ovaries, ...	ORPHA:2969
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Aplasia/Hypoplasia of the lungs, Abnormal morphology of female internal genitalia	ORPHA:1834
Trisomy 1Q	Small scrotum, Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus	ORPHA:261344
Desmosterolosis	Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Abnormality of neuronal migration, ...	ORPHA:35107
Craniotelencephalic Dysplasia	Frontal encephalocele, Hydrocephalus, Lissencephaly	ORPHA:1528
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas...	ORPHA:91350
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis	OMIM:614969
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Thanatophoric Dysplasia	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Pulmonary hypoplasia	ORPHA:2655
Alexander Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:203450
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc...	OMIM:616034
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen...	ORPHA:465508
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Cholelithiasis, Abnormality of the male genitalia	OMIM:614886
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Encephalocele, Cryptorchidism, Pulmonary hypoplasia	ORPHA:1865
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:602501
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Hypospadias, Cryptorchidism	OMIM:601499
Endocrine-Cerebroosteodysplasia	Small scrotum, Ventriculomegaly, Microphallus, Focal polymicrogyria, Cryptorchidism, Ambiguous ge...	OMIM:612651
Metatropic Dysplasia	Hydrocephalus, Aplasia/Hypoplasia of the lungs	ORPHA:2635
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria	ORPHA:83473
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe...	OMIM:137920
Pentalogy Of Cantrell	Hypospadias, Absent gallbladder, Encephalocele, Hydrocephalus, Anencephaly, Pulmonary hypoplasia	ORPHA:1335
Fraser Syndrome 3	Small scrotum, Hypoplasia of penis, Hydrocephalus, Abnormal lung lobation	OMIM:617667
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Adrenal medullary hypoplasia, Hydrocephalus	OMIM:248000
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Tetrasomy 9P	Polymicrogyria, Pachygyria, Absent gallbladder, Cryptorchidism, Hydrocephalus, Oligozoospermia, D...	ORPHA:3310
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus	OMIM:610333
Vacterl With Hydrocephalus	Cryptorchidism, Abnormal fallopian tube morphology, Hydrocephalus, Spina bifida, Aqueductal steno...	ORPHA:3412
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Peripheral pulmonary artery stenosis, Cryptorchidism, Dandy-Walker malformation	OMIM:613001
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Ventriculomegaly, Hydrocephalus	ORPHA:272
Craniopharyngioma	Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Central adrenal ins...	ORPHA:54595
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Supernumerary nipple, Cryptorchidism, Hypothyroidism, Hydrocephalus, Hypoplasia...	ORPHA:1812
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Micropenis, Hydrocephalus, Cryptorchidism, Supernumerary nipple	OMIM:619951
Pseudotrisomy 13 Syndrome	Polymicrogyria, Cryptorchidism, Encephalocele, Adrenal hypoplasia, Hydrocephalus, Micropenis, Hol...	OMIM:264480
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Ventriculomegaly, Polymicrogyria, Occipital meningocele, Hydrocephalus, Micropenis, Anencephaly, ...	OMIM:616546
Thoracoabdominal Syndrome	Hydrocephalus, Hypospadias, Anencephaly, Pulmonary hypoplasia	OMIM:313850
Von Hippel-Lindau Syndrome	Pancreatic cysts, Pheochromocytoma, Paraganglioma, Pulmonary capillary hemangiomatosis, Epididyma...	OMIM:193300
Rhombencephalosynapsis	Ventriculomegaly, Hydrocephalus, Abnormality of the uterus	ORPHA:59315
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Elevated circulating parathyroid hormone level, Elevated circulating thyr...	OMIM:101800
Desmosterolosis	Total anomalous pulmonary venous return, Ventriculomegaly, Ambiguous genitalia, female, Ambiguous...	OMIM:602398
Congenital Toxoplasmosis	Ventriculomegaly, Hydrocephalus	ORPHA:858
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Colpocephaly, Hydrocephalus, Micropenis, Hypoplasia of ...	OMIM:309801
Absent Radius-Anogenital Anomalies Syndrome	Rectovaginal fistula, Hydrocephalus, Perineal fistula	ORPHA:3016
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Bifid scrotum, Cryptorchidism, Prominent scrotal raphe	ORPHA:1555
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Situs inversus totalis, Encephalocele, Hydrocephalus, Pulmonary artery atresia...	ORPHA:1908
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis, ...	OMIM:257300
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Gracile Bone Dysplasia	Micropenis, Hydrocephalus	OMIM:602361
Pelvis-Shoulder Dysplasia	Hydranencephaly, Ambiguous genitalia, Hydrocephalus, Spina bifida	ORPHA:2839
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Hydrocephalus, Cervicitis, Dandy-Wa...	ORPHA:722
Lowry-Maclean Syndrome	Hypospadias, Hydrocephalus, Bilateral cryptorchidism	ORPHA:2409
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Cryptorchidism,...	OMIM:236670
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Irregular menstruation, Hydrocephalus, Uterine leiomyoma	OMIM:616482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Type II lissencephaly, Hydrocephalus, Polymicrogyria	OMIM:615181
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Lhermitte-Duclos Disease	Hydrocephalus, Ovarian neoplasm, Neoplasm of the thyroid gland, Polymicrogyria	ORPHA:65285
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Dilated fourth ...	ORPHA:370959
Cryptococcosis	Pneumonia, Nodular pattern on pulmonary HRCT, Pleural effusion, Prostatitis, Hydrocephalus	ORPHA:1546
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Vaginal atresia, Hypoplastic labia majora, Fused labia minora, Hydrocephalus	OMIM:207410
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Trisomy 17P	Hypoplasia of penis, Hydrocephalus	ORPHA:261290
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Wolfram Syndrome 1	Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus	OMIM:222300
Fanconi Anemia	Abnormality of the hypothalamus-pituitary axis, Ventriculomegaly, Abnormality of the uterus, Hypo...	ORPHA:84
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Hydrocephalus	OMIM:304100
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Abnormal morphology of female internal genitalia, Emphysema, Pulmonary ...	ORPHA:538
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus, Hydrocephalus	ORPHA:2736
Exstrophy-Epispadias Complex	Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys...	ORPHA:322
Jacobsen Syndrome	Annular pancreas, Cryptorchidism, Labial hypoplasia, Hydrocephalus, Recurrent respiratory infecti...	OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Meckel Syndrome	Situs inversus totalis, Cryptorchidism, Encephalocele, True hermaphroditism, Male pseudohermaphro...	ORPHA:564
Fg Syndrome Type 1	Small pituitary gland, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypospadias	ORPHA:93932
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Ventriculomegaly, Azoospermia, Delayed puberty, Hydrocephalus, Abnormal pulmonary...	ORPHA:2072
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Hydrocephalus	ORPHA:1895
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora, Hydrocephalus...	OMIM:123790
Joubert Syndrome 2	Hydrocephalus, Enlarged fossa interpeduncularis, Hypoplastic male external genitalia, Encephalocele	OMIM:608091
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Tetraamelia Syndrome 1	Absent external genitalia, Pulmonary hypoplasia, Adrenal gland agenesis, Hydrocephalus, Vaginal a...	OMIM:273395
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Short-Rib Thoracic Dysplasia 12	Atelectasis, Hypoplastic nipples, Ambiguous genitalia, Hydrocephalus, Holoprosencephaly, Anenceph...	OMIM:269860
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation, Polymicrogyria	OMIM:614219
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:1860
Cystic Fibrosis	Nasal polyposis, Absent vas deferens, Pneumothorax, Recurrent lower respiratory tract infections,...	ORPHA:586
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Decreased testicular size, Anen...	OMIM:615287
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Laurin-Sandrow Syndrome	Hydrocephalus, Cryptorchidism	ORPHA:2378
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus	OMIM:614120
Oeis Complex	Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitali...	OMIM:258040
Gorlin Syndrome	Hydrocephalus, Hypogonadotropic hypogonadism, Ovarian fibroma, Cryptorchidism	ORPHA:377
Joubert Syndrome	Polymicrogyria, Situs inversus totalis, Encephalocele, Abnormality of neuronal migration, Hydroce...	ORPHA:475
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Hydrocele testis, Hydrocephalus	OMIM:613603
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Colpocephaly, Periventricular heterotopia, Hydrocephalus	OMIM:619833
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Abdominal situs inversus, Recurrent lower respirato...	OMIM:618699
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Gray matter heterotopia	OMIM:207950
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus, Pulmonary hypoplasia	OMIM:187600
Meningioma	Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu...	ORPHA:2495
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Atelectasis, Polymicrogyr...	OMIM:620371
Crouzon Syndrome	Hydrocephalus, Dysgerminoma	OMIM:123500
Czeizel-Losonci Syndrome	Myelomeningocele, Hypoplastic nipples, Hydrocephalus, Spina bifida, Spina bifida occulta, Pulmona...	ORPHA:2437
Nasu-Hakola Disease	Ventriculomegaly, Hydrocephalus	ORPHA:2770
Krabbe Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:245200
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele, Cryptorchidism	OMIM:130720
Holoprosencephaly	Spinal dysraphism, Panhypopituitarism, Cryptorchidism, Encephalocele, Abnormality of neuronal mig...	ORPHA:2162
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Colpocephaly, Hydrocephalus, Gray matter heterotopia, Communicating hydrocephal...	OMIM:615219
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Hydrocephalus, Spina bifida	OMIM:613776
B4Galt1-Cdg	Hypothyroidism, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Otopalatodigital Syndrome Type 2	Myelomeningocele, Encephalocele, Hydrocephalus, Hypospadias, Pulmonary hypoplasia	ORPHA:90652
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Houge-Janssens Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:616362
Trisomy 8P	Peripheral pulmonary artery stenosis, Recurrent upper respiratory tract infections, Annular pancr...	ORPHA:264450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Pachygyria, Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:603387
Fanconi Anemia, Complementation Group A	Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility	OMIM:227650
Monosomy 18Q	Secondary growth hormone deficiency, Bilateral cryptorchidism, Hypothyroidism, Hydrocephalus, Mic...	ORPHA:1600
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Cryptorchidism, Hydrocephal...	ORPHA:2658
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Polymicrogyria, Hydrocephalus, Dandy-Walker malformation	OMIM:225790
Meckel Syndrome, Type 1	Ventriculomegaly, Occipital encephalocele, Abnormality of the uterus, Ambiguous genitalia, female...	OMIM:249000
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus	ORPHA:2182
Neurooculorenal Syndrome	Ectopic posterior pituitary, Ventriculomegaly, Central hypothyroidism, Polymicrogyria, Decreased ...	OMIM:620305
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Cousin Syndrome	Ambiguous genitalia, male, Ambiguous genitalia, female, Hydranencephaly, Hydrocephalus	OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Encephalocele, Hydrocephalus, Dandy-Walk...	OMIM:614643
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Hydrocephalus	OMIM:615630
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus	OMIM:614576
Cystic Fibrosis	Recurrent pneumonia, Nasal polyposis, Recurrent bronchopulmonary infections, Bronchiectasis, Male...	OMIM:219700
Cerebrooculonasal Syndrome	Ventriculomegaly, Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker...	OMIM:605627
Fanconi Anemia, Complementation Group D2	Annular pancreas, Cryptorchidism, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism	OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Type II lissencephaly, Agyria, Hydrocephalus, Lissencephaly	OMIM:615249
Smith-Lemli-Opitz Syndrome	Precocious puberty, Small scrotum, Bifid scrotum, Abnormal lung lobation, Septate vagina, Periven...	OMIM:270400
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Autosomal Dominant Polycystic Kidney Disease	Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility	ORPHA:730
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Isomerism, Hydrocephalus, Pulmonary hypoplasia	OMIM:314390
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Colpocephaly, Hydrocephalus, Polymicrogyria	OMIM:620156
Alexander Disease	Precocious puberty, Hypothyroidism, Hydrocephalus, Aqueductal stenosis, Diabetes mellitus	ORPHA:58
Houge-Janssens Syndrome 1	Ventriculomegaly, Hydrocephalus	OMIM:616355
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Cryptorchidism	ORPHA:250989
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Hydrocephalus, Hypospadias, Cryptorchidism	OMIM:305450
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Dandy-Walker mal...	OMIM:611134
Tetrasomy 5P	Recurrent respiratory infections, Hydrocephalus, Pulmonary hypoplasia	ORPHA:3309
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Aplasia/hypoplasia of the uterus, Cryptorchidism, Aplasia/Hypoplasia of the fal...	ORPHA:96121
Apert Syndrome	Ventriculomegaly, Ovarian neoplasm, Hydrocephalus	ORPHA:87
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Hydrocephalus	OMIM:109120
Tenorio Syndrome	Hypoinsulinemia, Recurrent pneumonia, Hydrocephalus, Ventriculomegaly	OMIM:616260
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus, Polymicrogyria	ORPHA:60040
Fraser Syndrome 1	Clitoral hypertrophy, Abnormal cortical gyration, Myelomeningocele, Cryptorchidism, Encephalocele...	OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Polymicrogyria, Type II lissencephaly, Encephalocele, Hydrocephalus, Pachygyria, Holoprosencephal...	OMIM:253800
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Ventriculomegaly, Bilateral cryptorchidism, Aspirat...	OMIM:602535
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Pancreatic cysts, Neoplasm of the pancreas, Pancreatic ...	ORPHA:892
Dubowitz Syndrome	Abnormal female external genitalia morphology, Cryptorchidism, Hydrocephalus, Hypoparathyroidism,...	ORPHA:235
Marden-Walker Syndrome	Abnormal penis morphology, Situs inversus totalis, Hydrocephalus, Hypospadias, Epispadias	ORPHA:2461
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Cryptorchidism	OMIM:182212
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hypogonadism, Hydrocephalus, Bilateral cryptorchidism	ORPHA:3042
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Meckel Syndrome, Type 3	Hydrocephalus, Occipital encephalocele, Bile duct proliferation, Dandy-Walker malformation	OMIM:607361
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Increased CSF lactate, Hypothyroidism, Hydrocephalus, Hyperglycorrhachia	ORPHA:90065
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Ventriculomegaly, Hydrocephalus, Aplasia of the vagina	ORPHA:457284
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Peho Syndrome	Ventriculomegaly, Recurrent respiratory infections, Hydrocephalus	ORPHA:2836
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration, Hydrocephalus, Encephalocele, Abnormality of the hypothalamus-...	ORPHA:2318
Cardiofaciocutaneous Syndrome	Hydrocephalus, Cryptorchidism	ORPHA:1340
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Decreased testicular size, Hypoplasia of the ovary, Hydrocephalus	OMIM:619321
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Situs inversus totalis, Hydrocephalus	OMIM:613686
Apert Syndrome	Vaginal atresia, Hydrocephalus, Ventriculomegaly, Cryptorchidism	OMIM:101200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Hydrocephalus, Micropenis, Hypospadias	ORPHA:163979
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Abnormal vagina morphology, Abnormal lung lobation, Gray matter heter...	OMIM:236680
Holoprosencephaly 9	Anterior pituitary agenesis, Abnormal cortical gyration, Alobar holoprosencephaly, Decreased resp...	OMIM:610829
Kabuki Syndrome	Precocious puberty, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Hypospa...	ORPHA:2322
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Hydrocephalus	ORPHA:2169
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Joubert Syndrome With Renal Defect	Hydrocephalus, Encephalocele, Abnormality of the hypothalamus-pituitary axis, Polymicrogyria	ORPHA:220497
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Communicating hydrocephalus, Ventriculomegaly, Ovarian cyst	OMIM:618188
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Periventricular heterotopia, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Congenital Sialidosis Type 2	Hydrocephalus, Respiratory tract infection	ORPHA:93400
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Joubert Syndrome 14	Hydrocephalus, Meningocele, Encephalocele, Dandy-Walker malformation	OMIM:614424
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Ventriculomegaly, Hydrocephalus, Nasofrontal encephalocele	OMIM:614195
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus, Hydrocephalus	OMIM:614083
Aymé-Gripp Syndrome	Hydrocephalus, Breast hypoplasia, Ventriculomegaly, Cryptorchidism	ORPHA:1272
Plasminogen Deficiency, Type I	Ventriculomegaly, Recurrent upper respiratory tract infections, Hydrocephalus, Dandy-Walker malfo...	OMIM:217090
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Male pseudohermaphroditism, Ambiguous genitalia,...	ORPHA:2556
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hydrocephalus, Aqueductal stenosis, Cryptorchidism	OMIM:619512
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Periventricular heterotopia, Cryptorchidism, Hypoplastic labia majo...	OMIM:612289
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