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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Situs inversus totalis, Male infertility OMIM:618948

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Young Syndrome
Recurrent sinopulmonary infections, Obstructive azoospermia, Recurrent bronchitis, Decreased fert... ORPHA:3471
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Immotile sperm, Reduced sperm motility, Bronchiectasis, Situs inversus totali... OMIM:613807
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Bronchiectasis, Recurrent bronchitis, Male infertility, Recurrent sinusitis, Abse... OMIM:617091
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Abnormal central microtubular pair morphology of respiratory mo... OMIM:612650
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Bronchiectasis, Reduced sperm motility, Abnormal central microtubular pair mo... OMIM:612649
Ciliary Dyskinesia, Primary, 15
Infertility, Chronic bronchitis, Immotile sperm, Bronchiectasis, Situs inversus totalis, Recurren... OMIM:613808
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Ciliary Dyskinesia, Primary, 13
Infertility, Recurrent bronchitis, Bronchiectasis, Situs inversus totalis, Absent outer dynein ar... OMIM:613193
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, 18
Chronic bronchitis, Immotile sperm, Situs inversus totalis, Absent outer dynein arms, Male infert... OMIM:614874
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections OMIM:215520
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Ciliary Dyskinesia, Primary, 26
Infertility, Chronic bronchitis, Bronchiectasis, Reduced sperm motility, Situs inversus totalis, ... OMIM:615500
Ciliary Dyskinesia, Primary, 6
Abnormal respiratory motile cilium morphology, Recurrent respiratory infections, Absent/shortened... OMIM:610852
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Situs inversus totalis, Recurrent sinusitis OMIM:612518
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Recurrent respiratory infections, Male infertility, Bronchiec... OMIM:618801
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia OMIM:615703
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Young Syndrome
Bronchiectasis, Recurrent sinopulmonary infections, Recurrent bronchitis, Azoospermia OMIM:279000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Ciliary Dyskinesia, Primary, 17
Abnormal respiratory motile cilium morphology, Situs inversus totalis, Recurrent respiratory infe... OMIM:614679
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Ciliary Dyskinesia With Excessively Long Cilia
Abnormal respiratory motile cilium morphology, Nasal polyposis, Recurrent bronchitis OMIM:242680
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... ORPHA:922
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Primary hypothyroidism OMIM:225050
Ciliary Dyskinesia, Primary, 19
Infertility, Chronic bronchitis, Bronchiectasis, Reduced sperm motility, Situs inversus totalis, ... OMIM:614935
Ciliary Dyskinesia, Primary, 41
Infertility, Recurrent sinusitis, Immotile sperm, Bronchiectasis OMIM:618449
Ciliary Dyskinesia, Primary, 22
Infertility, Chronic bronchitis, Bronchiectasis, Reduced sperm motility, Situs inversus totalis, ... OMIM:615444
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hydrocephalus, Hypergonadotropic hypogonadism, Az... ORPHA:2183
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Situs inversus totalis, Absent outer dynein arms, Recurrent pneumonia, Recurrent ... OMIM:615067
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Infertility, Azoospermia OMIM:618300
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Ciliary Dyskinesia, Primary, 38
Absent inner and outer dynein arms, Situs inversus totalis, Infertility, Bronchiectasis OMIM:618063
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Absent outer dynein arms, Bronchiectasis OMIM:614017
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Absent outer dynein arms, Recurrent r... OMIM:616037
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Bronchiectasis, Recurrent bronchitis, Situs inversus tota... OMIM:244400
Ciliary Dyskinesia, Primary, 2
Infertility, Bronchiectasis, Situs inversus totalis, Absent inner and outer dynein arms, Recurren... OMIM:606763
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D... ORPHA:320391
Biemond Syndrome Type 2
Hypospadias, Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus, Delayed puberty ORPHA:141333
Ciliary Dyskinesia, Primary, 46
Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis, Reduced sperm motility OMIM:619436
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Primary Ciliary Dyskinesia
Pulmonary situs ambiguus, Bronchiectasis, Recurrent sinopulmonary infections, Situs inversus tota... ORPHA:244
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Reduced sperm motility OMIM:602271
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Hydrocephalus, Ventriculomegaly OMIM:615938
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus ORPHA:250994
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Ciliary Dyskinesia, Primary, 9
Pneumonia, Bronchiectasis, Situs inversus totalis, Male infertility, Recurrent sinusitis OMIM:612444
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Dextrocardia
Abnormal pulmonary situs morphology, Pancreatic hypoplasia, Abnormal lung lobation, Abnormal repr... ORPHA:1666
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Polymicrogyria, Hydrocephalus, Ventriculomegaly OMIM:615937
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Cryptorchidism, Hydrocephalus OMIM:601794
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Male infertility OMIM:618948
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Polymicrogyria, Hydrocephalus, Gray matter hetero... OMIM:600348
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Hydrocephalus, Long penis ORPHA:1672
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Ventriculomegaly, Increased circulating gonadotropin le... ORPHA:99330
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
48,Xyyy Syndrome
Primary gonadal insufficiency, Recurrent upper respiratory tract infections, Male hypogonadism, A... ORPHA:99329
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria, Hydrocephalus, Ventriculomegaly OMIM:604213
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly OMIM:618709
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Re... ORPHA:330015
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Ring Chromosome 21 Syndrome
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia, Holoprosencephaly ORPHA:1445
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261102
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Ambiguous genitalia, Gonadal tissue inappropriate for external gen... ORPHA:261519
Central Precocious Puberty
Isosexual precocious puberty, Premature thelarche, Hydrocephalus, Increased circulating gonadotro... ORPHA:759
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Micropenis, Hydrocephalus, Gray matter ... OMIM:615287
Pallister-Hall-Like Syndrome
Micropenis, Pulmonary hypoplasia, Hydrocephalus, Anterior hypopituitarism OMIM:241800
Temple Syndrome
Maturity-onset diabetes of the young, Cryptorchidism, Decreased testicular size, Hydrocephalus OMIM:616222
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:280679
Acalvaria
Abnormality of neuronal migration, Abnormal lung lobation, Holoprosencephaly, Spina bifida, Hydro... ORPHA:945
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Male infertility OMIM:619607
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hypoplastic female external genitalia, Hydrocephalus, Ventriculomegaly OMIM:618577
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility ORPHA:85450
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Temple Syndrome
Type II diabetes mellitus, Decreased response to growth hormone stimulation test, Hydrocephalus, ... ORPHA:254516
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Gapo Syndrome
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
Meckel Syndrome, Type 6
Anencephaly, Abnormal internal genitalia, Bile duct proliferation, Hydrocephalus, Pulmonary hypop... OMIM:612284
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Reduced progressive sperm motility OMIM:619608
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Mend Syndrome
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus OMIM:300960
H Syndrome
Amenorrhea, Azoospermia, Bronchiectasis, Hypogonadism, Micropenis, Hydrocephalus, Diabetes mellit... ORPHA:168569
Gorlin Syndrome
Hypogonadotropic hypogonadism, Hydrocephalus, Cryptorchidism ORPHA:377
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Ventriculomegaly, Hypogonadism, Micropenis, Hydrocephalus, Hypergonadotro... OMIM:300514
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:218350
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:175700
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Micropenis, Abnormality of the pulmonary artery... ORPHA:1926
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Micropenis, Hydrocephalus, Cryptorchidism ORPHA:171839
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Isomerism, Hydrocephalus OMIM:314390
Classic Galactosemia
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Male infertil... ORPHA:79239
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus OMIM:614813
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Central diabetes insipidus, Hydrocep... OMIM:609637
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... ORPHA:95699
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:613154
Bloom Syndrome
Oligospermia, Pneumonia, Azoospermia, Respiratory tract infection, Male infertility, Diabetes mel... ORPHA:125
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:617281
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:614830
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Ventriculomegaly, Hydrocephalus, Lissencephaly ORPHA:2185
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Hydrocephalus, Dysgyria ORPHA:352682
Mental Retardation, Buenos Aires Type
Hypospadias, Hydrocephalus OMIM:249630
Triploidy
Hypospadias, Meningocele, Holoprosencephaly, Ambiguous genitalia, Hydrocephalus, Cryptorchidism, ... ORPHA:3376
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Ambiguous genitalia ORPHA:1237
Bresek Syndrome
Cryptorchidism, Decreased testicular size, Hydrocephalus ORPHA:85284
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Mirage Syndrome
Hypospadias, Adrenal insufficiency, Hydrocephalus, Hypergonadotropic hypogonadism, Cryptorchidism... OMIM:617053
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Genitopalatocardiac Syndrome
Hypospadias, Gonadal dysgenesis, male, Hydrocephalus, Cryptorchidism, Male pseudohermaphroditism ORPHA:2075
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Dandy-Walker malformation, Lissenc... ORPHA:899
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom... OMIM:609757
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Lissencephaly, Ventriculomegaly, Pachygyria, Hydrocephalus, Agyria, Ty... OMIM:613153
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Kleeblattschaedel
Hydrocephalus OMIM:148800
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus OMIM:310400
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Endocrine-Cerebroosteodysplasia
Hypospadias, Sex reversal, Holoprosencephaly, Ventriculomegaly, Micropenis, Ambiguous genitalia, ... OMIM:612651
Fried Syndrome
Hydrocephalus ORPHA:85335
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus OMIM:210350
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Micropenis, Hydrocephalus, Gray matter heterotopia, Lissencephaly OMIM:617822
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus, Type II lissencephaly OMIM:615191
Hydrolethalus
Arrhinencephaly, Anencephaly, Abnormal fallopian tube morphology, Hydrocephalus, Cryptorchidism ORPHA:2189
Emanuel Syndrome
Dandy-Walker malformation, Infertility, Ventriculomegaly, Hypogonadism, Micropenis, Recurrent res... ORPHA:96170
Pettigrew Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:304340
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Ventriculomegaly ORPHA:324416
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Vaginal atresia, Hydrocephalus, Cryptorc... ORPHA:3301
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... ORPHA:91
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism,... ORPHA:300298
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Cryptorchidism, Lissencephaly, Hydrocephalus OMIM:612938
Ritscher-Schinzel Syndrome 1
Hypospadias, Dandy-Walker malformation, Adrenal hypoplasia, Hydrocephalus, Decreased response to ... OMIM:220210
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Holoprosencephaly, Hydrocephalus, Cryptorchidism, Hypoplasia of penis ORPHA:77298
Coccidioidomycosis
Abnormal sperm morphology, Pneumonia, Abnormality of the male genitalia, Abnormality of the endoc... ORPHA:228123
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Simplified gyral pattern OMIM:619302
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Ventriculomegaly, Polymicrogyria, Hydrocephalus, Cryptorchidism ORPHA:1647
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Aplasia/Hypoplasia of the lungs, Holoprosencephaly, Ventriculo... ORPHA:93274
3C Syndrome
Hypospadias, Abnormality of neuronal migration, Dandy-Walker malformation, Ventriculomegaly, Adre... ORPHA:7
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Pulmonary hypoplasia, Spontaneous abortion, Hydrocephalus ORPHA:1865
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... ORPHA:361
Achondroplasia
Hydrocephalus OMIM:100800
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Ventriculomegaly, Hypogonadism, Micropenis, Hydrocephalus, Cryptorchidism ORPHA:500055
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Cholelithiasis, Abnormality of the male genitalia OMIM:614886
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomegaly, Pachygyria, Macr... ORPHA:35107
Whipple Disease
Pleuritis, Hydrocephalus, Erectile dysfunction, Hypothyroidism ORPHA:3452
Thanatophoric Dysplasia
Gray matter heterotopia, Pulmonary hypoplasia, Hydrocephalus, Ventriculomegaly ORPHA:2655
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Reduced sperm motility, Maturity-onset ... OMIM:137920
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:1834
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:91350
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Bronchogenic cyst, Polycystic ovaries, Hydroceph... ORPHA:2969
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Hydrocephalus, Ventriculomegaly OMIM:602501
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus ORPHA:2635
Tetrasomy 9P
Oligospermia, Dandy-Walker malformation, Infertility, Pulmonary hypoplasia, Absent gallbladder, P... ORPHA:3310
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Chordee, Colpocephaly, Clitoral hypertrophy, Micropenis, Hydrocephalus, Ovotestis, H... OMIM:309801
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Distal Tetrasomy 15Q
Dandy-Walker malformation, Abnormal external genitalia, Hydrocephalus, Pulmonary hypoplasia, Hydr... ORPHA:314588
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia, Hydrocephalus OMIM:236640
Craniofacial Dyssynostosis
Hydrocephalus ORPHA:1516
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Cryptorchidism, Hydrocephalus OMIM:601499
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Abnormal lung lobation, Holoprosencephaly, Thyroid hypoplasia, Abnormality of the hy... ORPHA:2166
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Micropenis, Polymicrogyria, Hydrocephalus, Pulmonary hypoplasia OMIM:616546
Craniotelencephalic Dysplasia
Arrhinencephaly, Lissencephaly, Hydrocephalus ORPHA:1528
Von Hippel-Lindau Syndrome
Pancreatic cysts, Pulmonary capillary hemangiomatosis, Neoplasm of the pancreas, Paraganglioma, P... OMIM:193300
Vacterl With Hydrocephalus
Arrhinencephaly, Abnormal fallopian tube morphology, Hydrocephalus, Spina bifida, Cryptorchidism,... ORPHA:3412
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Peripheral pulmonary artery stenosis OMIM:613001
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Hypogonadotro... ORPHA:54595
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Bicornuate uterus, Micropenis, Adrenal hypoplasia, Polymicrogyria, Hydrocephal... OMIM:264480
Pentalogy Of Cantrell
Hypospadias, Anencephaly, Absent gallbladder, Hydrocephalus, Pulmonary hypoplasia ORPHA:1335
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Hydrocephalus, Ventriculomegaly ORPHA:272
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Decreased growth hormo... OMIM:101800
Thoracoabdominal Syndrome
Hypospadias, Pulmonary hypoplasia, Hydrocephalus, Anencephaly OMIM:313850
Rhombencephalosynapsis
Abnormality of the uterus, Hydrocephalus, Ventriculomegaly ORPHA:59315
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus, Hypothyroidism, Cryptorchidism, Hypoplasia of penis, Supernumera... ORPHA:1812
Trisomy 1Q
Small scrotum, Ventriculomegaly, Ambiguous genitalia, Hydrocephalus, Cryptorchidism ORPHA:261344
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Hydrocephalus ORPHA:83473
Tetraamelia Syndrome 1
Urethral atresia, Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Hydr... OMIM:273395
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus OMIM:300864
Beare-Stevenson Cutis Gyrata Syndrome
Hypoplastic labia majora, Bifid scrotum, Prominent scrotal raphe, Ventriculomegaly, Hydrocephalus OMIM:123790
Desmosterolosis
Total anomalous pulmonary venous return, Ambiguous genitalia, female, Ventriculomegaly, Ambiguous... OMIM:602398
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Hypoplasminogenemia
Dandy-Walker malformation, Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicit... ORPHA:722
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Fanconi Anemia, Complementation Group L
Micropenis, Hydrocephalus OMIM:614083
Lowry-Maclean Syndrome
Hypospadias, Bilateral cryptorchidism, Hydrocephalus ORPHA:2409
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele OMIM:182940
Pelvis-Shoulder Dysplasia
Spina bifida, Ambiguous genitalia, Hydrocephalus, Hydranencephaly ORPHA:2839
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Perineal fistula, Hydrocephalus ORPHA:3016
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Lhermitte-Duclos Disease
Neoplasm of the thyroid gland, Ovarian neoplasm, Polymicrogyria, Hydrocephalus ORPHA:65285
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Trisomy 17P
Urethral valve, Hypoplasia of penis, Hydrocephalus, Urethral stenosis ORPHA:261290
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Anencephaly, Holoprosencephaly, Situs inversus totalis, Hydrocephalus, Spinal dysrap... ORPHA:1908
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Diabetes mellitus, Hypothyroidism OMIM:222300
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Prominent scrotal raphe, Cryptorchidism, Bifid scrotum, Hydrocephalus ORPHA:1555
Meckel Syndrome
Dandy-Walker malformation, True hermaphroditism, Anencephaly, Lobar holoprosencephaly, Pancreatic... ORPHA:564
Fanconi Anemia
Hypospadias, Azoospermia, Abnormal preputium morphology, Abnormality of the hypothalamus-pituitar... ORPHA:84
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:163961
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Fused labia minora, Hypoplastic labia majora, Vaginal atresia, Hydrocephalus OMIM:207410
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:305400
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Exstrophy-Epispadias Complex
Cystocele, Male sexual dysfunction, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Spina... ORPHA:322
Cryptococcosis
Pneumonia, Prostatitis, Hydrocephalus, Nodular pattern on pulmonary HRCT, Pleural effusion ORPHA:1546
Gracile Bone Dysplasia
Micropenis, Hydrocephalus OMIM:602361
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220220
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Dandy-Walker malformation, Bifid scrotum, Ventriculomegaly, Micropenis, Ambiguous ge... OMIM:257300
Jacobsen Syndrome
Hypospadias, Annular pancreas, Labial hypoplasia, Holoprosencephaly, Recurrent respiratory infect... OMIM:147791
Cousin Syndrome
Ambiguous genitalia, male, Hydranencephaly, Ambiguous genitalia, female, Hydrocephalus OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Hydrocephalus OMIM:615181
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Cholelithiasis, Ventriculomegaly, Abnormal pulmonary interstitial morphology, Hydroc... ORPHA:2072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Ventriculomegaly, Pachygyria, Polymicrogyria, Agyria, Hypoplastic male... OMIM:236670
Krabbe Disease
Hydrocephalus, Increased CSF protein OMIM:245200
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Oeis Complex
Bifid uterus, Myelomeningocele, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, A... OMIM:258040
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Polymicrogyria, Hydrocephalus, Gray matter heterotopi... ORPHA:370959
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Fg Syndrome Type 1
Hypospadias, Ventriculomegaly, Small pituitary gland, Hydrocephalus, Cryptorchidism ORPHA:93932
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Joubert Syndrome 2
Hydrocephalus, Hypoplastic male external genitalia, Enlarged fossa interpeduncularis OMIM:608091
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Bronchiectasis, Noncommunicating hydrocephalus, Recurrent lower respira... OMIM:618699
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Meningioma
Enlarged pituitary gland, Amenorrhea, Decreased circulating cortisol level, Hypothalamic hypothyr... ORPHA:2495
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Ventriculomegaly ORPHA:1860
Joubert Syndrome
Abnormality of neuronal migration, Situs inversus totalis, Abnormality of the hypothalamus-pituit... ORPHA:475
Fanconi Anemia, Complementation Group A
Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Smith-Lemli-Opitz Syndrome
Hypospadias, Dandy-Walker malformation, Bifid scrotum, Periventricular heterotopia, Abnormal lung... OMIM:270400
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Hydrocephalus, Ventriculomegaly OMIM:225790
Meckel Syndrome, Type 1
Dandy-Walker malformation, Anencephaly, Bile duct proliferation, External genital hypoplasia, Amb... OMIM:249000
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Lymphangioleiomyomatosis
Abnormal morphology of female internal genitalia, Pneumothorax, Pulmonary lymphangiomyomatosis, H... ORPHA:538
Holoprosencephaly
Abnormality of neuronal migration, Dandy-Walker malformation, Aplasia/Hypoplasia of the lungs, Di... ORPHA:2162
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Campomelic Dysplasia
Sex reversal, Hydrocephalus OMIM:114290
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Czeizel-Losonci Syndrome
Hypoplastic nipples, Myelomeningocele, Spina bifida occulta, Spina bifida, Hydrocephalus, Pulmona... ORPHA:2437
Mental Retardation, Autosomal Dominant 36
Hydrocephalus, Ventriculomegaly OMIM:616362
Short-Rib Thoracic Dysplasia 12
Hypoplastic nipples, Anencephaly, Holoprosencephaly, Ambiguous genitalia, Hydrocephalus, Pulmonar... OMIM:269860
Mental Retardation, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly OMIM:616355
Trisomy 8P
Dandy-Walker malformation, Peripheral pulmonary artery stenosis, Abnormal lung lobation, Annular ... ORPHA:264450
Otopalatodigital Syndrome Type 2
Hypospadias, Pulmonary hypoplasia, Hydrocephalus, Myelomeningocele ORPHA:90652
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Pneumonia, Ventriculomegaly, Polymicrogyria, Hydrocephalus, Aquedu... ORPHA:1136
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Chiari Malformation Type Ii
Gray matter heterotopia, Spina bifida, Hydrocephalus, Myelomeningocele OMIM:207950
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus OMIM:187600
Fanconi Anemia, Complementation Group D2
Annular pancreas, Micropenis, Hydrocephalus, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227646
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Hydrocephalus, Ventriculomegaly OMIM:614576
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Abnormal penis morphology, External genital hypoplasia, Hypogonadism, Hydrocephalus,... ORPHA:2658
Cerebrooculonasal Syndrome
Hydrocephalus, Hypoplastic male external genitalia OMIM:605627
7Q11.23 Microduplication Syndrome
Hypospadias, Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Simplifi... ORPHA:96121
Coach Syndrome 2
Hydrocephalus OMIM:619111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Hydrocephalus, Agyria, Lissencephaly OMIM:615249
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Gray matte... OMIM:615219
Apert Syndrome
Vaginal atresia, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:101200
Floating-Harbor Syndrome
Hypospadias, Congenital posterior urethral valve, Varicocele, Epididymal cyst, Cryptorchidism OMIM:136140
Crouzon Disease
Hydrocephalus ORPHA:207
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Periventricular heterotopia OMIM:618476
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Pancreatic islet cell adenoma, Pancreatic c... ORPHA:892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Lissencephaly, Ventriculomegaly, Pachygyria, Polymicrogyria, Agyria, S... OMIM:614643
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Abnormal vagina morphology, Arrhinencephaly, Dandy-Walke... OMIM:236680
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Joubert Syndrome 14
Dandy-Walker malformation, Hydrocephalus OMIM:614424
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Pachygyria, Polymicrogyria, Hydrocephalus OMIM:603387
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Hydrocephalus, Ventriculomegaly ORPHA:60040
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Pancreatic cysts, Hydrocephalus, Gray matter hetero... OMIM:311200
Opitz-Kaveggia Syndrome
Hypospadias, Cryptorchidism, Gray matter heterotopia, Hydrocephalus OMIM:305450
Holoprosencephaly 9
Abnormal cortical gyration, Holoprosencephaly, Decreased response to growth hormone stimulation t... OMIM:610829
Alexander Disease
Hydrocephalus, Diabetes mellitus, Hypothyroidism, Precocious puberty, Aqueductal stenosis ORPHA:58
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Apert Syndrome
Ovarian neoplasm, Hydrocephalus, Ventriculomegaly ORPHA:87
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus, Polymicrogyria, Hydrocephalus, Aqueductal stenosis OMIM:154400
Monosomy 18Q
Secondary growth hormone deficiency, Micropenis, Bilateral cryptorchidism, Hydrocephalus, Hypothy... ORPHA:1600
Marden-Walker Syndrome
Hypospadias, Abnormal penis morphology, Situs inversus totalis, Hydrocephalus, Epispadias ORPHA:2461
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia, Hydrocephalus ORPHA:3309
Otopalatodigital Syndrome, Type Ii
Hypospadias, Cryptorchidism, Hydrocephalus OMIM:304120
Cystic Fibrosis
Bronchiectasis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Male infertility, Nas... OMIM:219700
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly OMIM:602200
Nephronophthisis 18
Hydrocephalus OMIM:615862
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Hydrocephalus, Aplasia of the vagina, Ventriculomegaly ORPHA:457284
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Absent gallbladder, Micropenis, Hydrocephalus, Cryptorchidism ORPHA:163979
Fraser Syndrome 1
Hypospadias, Abnormal cortical gyration, Myelomeningocele, Clitoral hypertrophy, Bicornuate uteru... OMIM:219000
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hypogonadism, Bilateral cryptorchidism, Hydrocephalus ORPHA:3042
Dubowitz Syndrome
Hypospadias, Hypoparathyroidism, Hydrocephalus, Cryptorchidism, Spina bifida occulta, Abnormality... ORPHA:235
Tenorio Syndrome
Hypoinsulinemia, Hydrocephalus, Pneumonia, Ventriculomegaly OMIM:616260
B4Galt1-Cdg
Dandy-Walker malformation, Hydrocephalus, Hypothyroidism ORPHA:79332
Peho Syndrome
Recurrent respiratory infections, Hydrocephalus, Ventriculomegaly ORPHA:2836
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Meckel Syndrome, Type 4
Dandy-Walker malformation, Meningocele, Anencephaly, Bile duct proliferation, Hydrocephalus OMIM:611134
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus ORPHA:250989
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus OMIM:182212
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycorrhachia, Increased CSF lactate, Hydrocephalus, Hypothyroidism, Hypopituitarism ORPHA:90065
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Decreased testicular size, Hypoplasia of the ovary, Hydrocephalus OMIM:619321
Kabuki Syndrome
Hypospadias, Ventriculomegaly, Hydrocephalus, Cryptorchidism, Hypoplasia of penis, Precocious pub... ORPHA:2322
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Aymé-Gripp Syndrome
Cryptorchidism, Breast hypoplasia, Hydrocephalus, Ventriculomegaly ORPHA:1272
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Abnormality of the hypothalamus-pituitary axis, Hydrocephalus ORPHA:2318
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1340
Congenital Sialidosis Type 2
Respiratory tract infection, Hydrocephalus ORPHA:93400
Joubert Syndrome With Renal Defect
Abnormality of the hypothalamus-pituitary axis, Polymicrogyria, Hydrocephalus ORPHA:220497
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Pulmonary hypoplasia, Hydrocephalus OMIM:208150
Hajdu-Cheney Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus OMIM:102500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Polymicrogyria, Agyria, Ventriculomegaly, Hydrocephalus OMIM:616538
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Thakker-Donnai Syndrome
Rectovaginal fistula, Communicating hydrocephalus ORPHA:1780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Lissencephaly, Pachygyria, Polymicrogyria, Agyria, Hydrocephalus, Type II liss... OMIM:253800
Microphthalmia With Linear Skin Defects Syndrome
Hypospadias, Abnormal penis morphology, Clitoral hypertrophy, Abnormal testis morphology, Ambiguo... ORPHA:2556
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Muenke Syndrome
Hydrocephalus ORPHA:53271
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Cryptorchidism, Hydrocephalus, Aqueductal stenosis OMIM:619512
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Pineal cyst, Decreased response to growth hormone stimulation test, Primary adrenal ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Pineal cyst, Decreased response to growth hormone stimulation test, Primary adrenal ... ORPHA:363958
Cockayne Syndrome A
Thymic hormone decreased, Normal pressure hydrocephalus, Hypogonadism, Micropenis, Cryptorchidism... OMIM:216400
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Hemangioblastoma
Hydrocephalus ORPHA:252054
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus OMIM:147800
Meckel Syndrome, Type 3
Dandy-Walker malformation, Bile duct proliferation, Hydrocephalus OMIM:607361
Mend Syndrome
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus ORPHA:401973
Fontaine Progeroid Syndrome
Hypoplastic labia majora, Recurrent aspiration pneumonia, Hypoplastic nipples, Periventricular he... OMIM:612289
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Griscelli Syndrome
Hydrocephalus ORPHA:381
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:612582
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Monosomy 9Q22.3
Hydrocephalus, Ovarian fibroma, Ventriculomegaly ORPHA:77301
Basal Cell Nevus Syndrome
Spina bifida, Ovarian carcinoma, Hydrocephalus, Ovarian fibroma OMIM:109400
Joubert Syndrome With Ocular Defect
Abnormality of the hypothalamus-pituitary axis, Polymicrogyria, Hydrocephalus ORPHA:220493
22Q11.2 Deletion Syndrome
Hypospadias, Meningocele, Arrhinencephaly, Hypoparathyroidism, Occipital myelomeningocele, Abnorm... ORPHA:567
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly ORPHA:2462
Adams-Oliver Syndrome
Hydrocephalus, Pulmonary artery atresia ORPHA:974
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:459061
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Histiocytoid Cardiomyopathy
Pulmonary edema, Polycystic ovaries, Hydrocephalus ORPHA:137675
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Chronic bronchitis, Hydrocephalus OMIM:253220
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Alström Syndrome
Oligospermia, Chronic bronchitis, Elevated circulating thyroid-stimulating hormone concentration,... ORPHA:64
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Anomalous pulmonary venous return ORPHA:2184
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Simplified gyral pattern, Lissencephaly, Polymicrogyria, Dilation ... ORPHA:300570
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Dandy-Walker malformation, Increased serum testosterone level, Long penis, Recurrent... OMIM:264090
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220219
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Chromosome 6Q24-Q25 Deletion Syndrome
Dilation of lateral ventricles, Hydrocephalus OMIM:612863
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Arachnoiditis
Hydrocephalus ORPHA:137817
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein, Ventriculomegaly OMIM:272200
Hajdu-Cheney Syndrome
Hypospadias, Recurrent respiratory infections, Hydrocephalus, Delayed puberty ORPHA:955
Cystinosis, Nephropathic
Primary hypothyroidism, Male hypogonadism, Male infertility, Diabetes mellitus, Delayed puberty OMIM:219800
Floating-Harbor Syndrome
Hypospadias, Congenital posterior urethral valve, Varicocele, Epididymal cyst, Cryptorchidism, Pr... ORPHA:2044
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Plasminogen Deficiency, Type I
Dandy-Walker malformation, Recurrent upper respiratory tract infections, Hydrocephalus OMIM:217090
Hurler Syndrome
Recurrent respiratory infections, Hydrocephalus OMIM:607014
Raine Syndrome
Pulmonary hypoplasia, Hydrocephalus OMIM:259775
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261337
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Ventriculomegaly, Pachygyria, Polymicrogyria, Hydrocephalus ORPHA:228308
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Noonan Syndrome 1
Hypospadias, Hypogonadism, Male infertility, Cryptorchidism, Chylothorax OMIM:163950
Carnitine Palmitoyltransferase Ii Deficiency