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Gene: Cfap43 MGI:1289258

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cilia and flagella associated protein 43
Synonyms:
D19Ertd652e,  4930463G05Rik,  4930428C11Rik,  4632415N18Rik,  Wdr96

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 Cfap43 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 Cfap43 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690

The table below shows human diseases predicted to be associated to Cfap43 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
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 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 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
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 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, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
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 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
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 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, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
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 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... OMIM:618433
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
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 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
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 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
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
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 17
Male infertility OMIM:617214
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
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Deleted in azoospermia
Azoospermia OMIM:400003
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligozoospermia OMIM:615703
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Young Syndrome
Azoospermia OMIM:279000
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib... ORPHA:52901
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Lateral ventricle dilatation, Bilateral cryptorchidism OMIM:300982
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility OMIM:618086
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
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology OMIM:610852
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:604213
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility OMIM:229070
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia OMIM:620032
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology OMIM:612518
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Ciliary Dyskinesia, Primary, 13
Absent outer dynein arms, Absent inner dynein arms, Infertility OMIM:613193
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Cryptorchidism OMIM:616816
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology OMIM:225050
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Lateral ventricle dilatation OMIM:619420
Premature Ovarian Failure 10
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov... OMIM:612885
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Lateral ventricle dilatation OMIM:615889
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... ORPHA:8
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Ciliary Dyskinesia, Primary, 32
Infertility, Absent respiratory ciliary axoneme radial spokes OMIM:616481
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia OMIM:300200
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Immotile sperm, Infe... OMIM:613808
Ciliary Dyskinesia, Primary, 18
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility OMIM:614874
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosum OMIM:619244
Ciliary Dyskinesia, Primary, 17
Dynein arm defect of respiratory motile cilia OMIM:614679
Ciliary Dyskinesia, Primary, 7
Abnormal axonemal organization of respiratory motile cilia OMIM:611884
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Ciliary Dyskinesia, Primary, 28
Dynein arm defect of respiratory motile cilia OMIM:615505
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Lateral ventricle dilatation OMIM:618330
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Hypogonadism, Cryptorchidism, Hydrocephalus, Micropenis ORPHA:500055
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... OMIM:618736
Functioning Gonadotropic Adenoma
Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov... ORPHA:91348
Kleeblattschaedel
Hydrocephalus OMIM:148800
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms OMIM:614017
Masa Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Neonatal... OMIM:610015
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Male infertility OMIM:244400
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus ORPHA:141333
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Increased CSF lactate, Abnormal CSF pyruvate fami... ORPHA:79243
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryp... ORPHA:544488
Cach Syndrome
Lateral ventricle dilatation, Gonadal dysgenesis, T2 hypointense thalamus, Primary amenorrhea, Pr... ORPHA:135
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,... ORPHA:397715
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Neonatal death OMIM:614870
Craniosynostosis 6
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... OMIM:616602
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Cryptorchidism ORPHA:250994
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation ORPHA:85290
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Pituitary Dermoid And Epidermoid Cysts
Hypogonadism, Amenorrhea, Oligomenorrhea, Oligozoospermia ORPHA:91351
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ventricle dilata... OMIM:600721
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru... OMIM:278850
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... ORPHA:330015
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Male urethral meatus stenosis, Agenesis of... ORPHA:464738
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... OMIM:400045
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hypospadias, Lateral ventricle dilatation OMIM:617751
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Absent outer dynein arms OMIM:616037
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ven... OMIM:618291
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor... ORPHA:251510
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Infertility ORPHA:1445
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Asparagine Synthetase Deficiency
Ventriculomegaly, Dilated fourth ventricle, Dilated third ventricle OMIM:615574
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Ciliary Dyskinesia, Primary, 38
Infertility, Absent inner and outer dynein arms OMIM:618063
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia, Oligomenorrhea, Oligozoosp... ORPHA:786
Diencephalic Syndrome
Long penis, Hydrocephalus ORPHA:1672
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:304100
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:308700
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Absent inner and outer dynein arms OMIM:615444
Fried Syndrome
Hydrocephalus ORPHA:85335
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Colpoceph... OMIM:620371
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism ORPHA:280679
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Male infertility, Absent inner and outer dynein arms OMIM:614935
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... ORPHA:432
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Aicardi Syndrome
Precocious puberty, Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, S... OMIM:304050
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Ciliary Dyskinesia, Primary, 2
Infertility, Nasal polyposis, Absent inner and outer dynein arms OMIM:606763
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hypoplastic female external genitalia, Cryptorchidism, Agenesis of corpus callo... OMIM:618577
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormal cerebrospinal fluid morphology ORPHA:314404
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Hydrocephalus, Cryptorchidism OMIM:601794
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence OMIM:235200
Slc35A2-Cdg
Precocious puberty, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Micropenis, Lateral ventricle dilatation, Cryptorchidism OMIM:619847
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Combined Oxidative Phosphorylation Defect Type 39
Increased CSF lactate, Lateral ventricle dilatation, Cryptorchidism ORPHA:565624
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation ORPHA:488627
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:612863
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... OMIM:616034
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Abnormal labia majora morphology, Decreased testicular size, Ambiguous geni... ORPHA:90791
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Abnormal preputium morphology, Choroid plexus cyst, Lateral ventricle dila... ORPHA:293725
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Abnormal thalamus morphol... ORPHA:300570
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypospadias OMIM:218350
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova... ORPHA:79239
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Lateral ventricle dilatation, Cryptorchidism OMIM:611209
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity ORPHA:363717
Cog5-Cdg
Micropenis, Lateral ventricle dilatation, Cryptorchidism ORPHA:263487
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hydrocephalus, Cryptor... ORPHA:254516
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Wars2-Related Combined Oxidative Phosphorylation Defect
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation ORPHA:572798
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Bilateral cryptorchidism, Dilated fourth ventricle, Epispadias, Partial ... ORPHA:434179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:613153
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hypothalamic hamartoma, Hydrocephalus, Micropenis, Anterior hypopituitarism OMIM:241800
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Noonan Syndrome 14
Lateral ventricle dilatation, Cryptorchidism OMIM:619745
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera... ORPHA:90793
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Distal Deletion 10Q
Spina bifida occulta, Lateral ventricle dilatation ORPHA:96148
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation, Micropenis, Hypospadias OMIM:619479
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia ORPHA:300298
Weaver Syndrome
Ventriculomegaly, Hydrocele testis, Lateral ventricle dilatation, Cryptorchidism OMIM:277590
Mosaic Trisomy 1
Micropenis, Penile hypospadias, Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:1692
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Bainbridge-Ropers Syndrome
Precocious puberty, Lateral ventricle dilatation, Cryptorchidism OMIM:615485
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation OMIM:619229
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Ventriculomegaly, Hydrocephalus, Cryptorch... OMIM:609757
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Aicardi-Goutieres Syndrome 9
Micropenis, Lateral ventricle dilatation OMIM:619487
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malfo... OMIM:225790
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, En... ORPHA:91
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypospadias OMIM:175700
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida OMIM:207950
Thanatophoric Dysplasia Type 2
Encephalocele, Ventriculomegaly, Holoprosencephaly, Hydrocephalus ORPHA:93274
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Small pituitary gland, Hydrocephalus OMIM:614195
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Hypospadias, Hydrocephalus, Cryptorchidism ORPHA:171839
Bresek Syndrome
Decreased testicular size, Hydrocephalus, Cryptorchidism, Neonatal death ORPHA:85284
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:620156
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Cryptorchidism ORPHA:2701
Bloom Syndrome
Premature ovarian insufficiency, Azoospermia, Oligozoospermia, Male infertility ORPHA:125
Nephronophthisis 18
Hydrocephalus OMIM:615862
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:616362
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, External gen... ORPHA:177907
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation ORPHA:2822
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... OMIM:615219
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Dilated fourth ventricle, A... ORPHA:370959
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of penis, Holoprosencephal... ORPHA:77298
Gabriele-De Vries Syndrome
Lateral ventricle dilatation, Cryptorchidism OMIM:617557
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Temple Syndrome
Precocious puberty, Decreased testicular size, Hydrocephalus, Cryptorchidism OMIM:616222
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Hypopituitari... ORPHA:91350
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Hemangioblastoma
Hydrocephalus ORPHA:252054
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:616355
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism ORPHA:1237
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal male external genitalia morphology, Abnormal ovarian morphology, Increased size of the c... ORPHA:95699
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Triploidy
Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Holoprosencephaly, Hypospadias, ... ORPHA:3376
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Dandy-Walker m... OMIM:220210
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Arachnoiditis
Hydrocephalus ORPHA:137817
Hydrolethalus
Cryptorchidism, Agenesis of corpus callosum, Abnormal fallopian tube morphology, Hydrocephalus, A... ORPHA:2189
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly ORPHA:1908
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Cryptorchidism, Hydrocephalu... ORPHA:1926
Rhombencephalosynapsis
Fusion of the left and right thalami, Ventriculomegaly, Hydrocephalus, Abnormality of the uterus ORPHA:59315
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Ambiguous genitalia, Lateral ventricle dilatation OMIM:263520
Carney Complex
Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm... ORPHA:1359
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:619833
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Trisomy 1Q
Small scrotum, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Ambiguous genitalia... ORPHA:261344
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Hydrocephalus, Perineal fistula ORPHA:3016
Helsmoortel-Van Der Aa Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Decreased response to growth hormone stimulation ... OMIM:615873
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:603387
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua... OMIM:137920
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hypogonadism, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism OMIM:300514
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Crouzon Syndrome
Hydrocephalus ORPHA:207
Genitopalatocardiac Syndrome
Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, male, Hydrocephalus, Hypospadias ORPHA:2075
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:238769
Emanuel Syndrome
Ventriculomegaly, Hypogonadism, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Micro... ORPHA:96170
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Hydrocephalus ORPHA:2736
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis OMIM:614969
Pettigrew Syndrome
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosum, Colpocephaly, Hydrocep... OMIM:210710
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Alkuraya-Kucinskas Syndrome
Small scrotum, Ventriculomegaly, Hydrocephalus, Micropenis, Dandy-Walker malformation OMIM:617822
Walker-Warburg Syndrome
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of penis... ORPHA:899
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620352
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Partial agenesis ... OMIM:619895
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Micropenis, Lateral ventricle dilatation OMIM:300868
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Micropenis, Dandy-Walker malformation OMIM:609029
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus OMIM:272200
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of penis ORPHA:1812
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the male genitalia ORPHA:228123
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Ciliary Dyskinesia, Primary, 20
Decreased fertility, Absent outer dynein arms OMIM:615067
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Hydrocephalus, Cryptorchidism OMIM:601499
Muenke Syndrome
Hydrocephalus ORPHA:53271
3C Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of penis, Hypospadias, Dandy-Walker malformation ORPHA:7
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Craniopharyngioma
Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Abnormal hypothalam... ORPHA:54595
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hypopituitarism, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Hydrocephalus OMIM:614576
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Endocrine-Cerebroosteodysplasia
Small scrotum, Ventriculomegaly, Microphallus, Cryptorchidism, Agenesis of corpus callosum, Ambig... OMIM:612651
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of corpus callosum OMIM:609053
Halperin-Birk Syndrome
Ventriculomegaly, Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum OMIM:618651
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:618476
Thanatophoric Dysplasia, Type I
Hydrocephalus, Neonatal death OMIM:187600
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Hydrocephalus OMIM:614886
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Agenesis of corpus callosum, Ovotestis, Colpocephaly, Chordee, Hydrocephalu... OMIM:309801
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
Tetrasomy 9P
Polymicrogyria, Pachygyria, Cryptorchidism, Oligozoospermia, Micropenis, Infertility, Lissencephaly ORPHA:3310
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Bifid scrotum, Cryptorchidism, Agenesis of corpus callosum, Ambiguous genitalia... OMIM:257300
Gracile Bone Dysplasia
Micropenis, Hydrocephalus OMIM:602361
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:459061
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus, Agenesis of corpus callosum OMIM:619320
Mirage Syndrome
Microphallus, Decreased testicular size, Cryptorchidism, Hydrocephalus, Shawl scrotum, Hypospadia... OMIM:617053
Kabuki Syndrome 1
Anoperineal fistula, Lateral ventricle dilatation, Cryptorchidism, Premature thelarche, Hydroceph... OMIM:147920
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningocele OMIM:614424
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:612582
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Walker malform... ORPHA:722
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Micropenis, Holoprosen... OMIM:264480
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Neonatal death OMIM:314390
Meckel Syndrome, Type 6
Abnormal internal genitalia, Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Uterine leiomyoma, Hydrocephalus, Neonatal death OMIM:616482
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Micropenis, Hydrocephalus, Cryptorchidism OMIM:619951
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Hydrocephalus, Cryptorchidism, Agenesis of corpus callosum ORPHA:3301
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:613001
Fraser Syndrome 3
Small scrotum, Hypoplasia of penis, Hydrocephalus, Stillbirth OMIM:617667
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries ORPHA:2969
Desmosterolosis
Ventriculomegaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydrocephalus, Partial ... OMIM:602398
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Fg Syndrome Type 1
Small pituitary gland, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypospadias ORPHA:93932
Pelvis-Shoulder Dysplasia
Hydranencephaly, Ambiguous genitalia, Hydrocephalus, Spina bifida ORPHA:2839
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Hydrocephalus, Micropenis ORPHA:168569
Lowry-Maclean Syndrome
Hypospadias, Hydrocephalus, Bilateral cryptorchidism ORPHA:2409
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Bifid scrotum, Prominent scrotal raphe, Agenesis of corpus callosum, Hypoplasti... OMIM:123790
Peho Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2836
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly, Cryptorchidism ORPHA:261250
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Agenesis of corpus callosum ORPHA:220497
Trisomy 17P
Hypoplasia of penis, Hydrocephalus ORPHA:261290
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Ventriculomegaly, Abnormal lateral ventric... ORPHA:1855
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:1834
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Ventriculomegaly, Colpocephaly, Agenesis o... OMIM:617260
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Vaginal atresia, Hypoplastic labia majora, Fused labia minora, Hydrocephalus OMIM:207410
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Lateral ventricle dilatation OMIM:300896
Chromosome 1P36 Deletion Syndrome, Distal
Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypospa... OMIM:607872
Distal Triplication 15Q
Abnormal external genitalia, Hydrocele testis, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Agenesi... OMIM:618820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Wa... OMIM:614643
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hypoplastic male external genitalia, Hydrocephalus OMIM:608091
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Desmosterolosis
Ventriculomegaly, Ambiguous genitalia, Hydrocephalus, Agenesis of corpus callosum ORPHA:35107
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:620113
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Prominent scrotal raphe, Hydrocephalus, Cryptorchidism ORPHA:1555
Lhermitte-Duclos Disease
Ovarian neoplasm, Hydrocephalus ORPHA:65285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:613150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Progressive ventriculomegaly, Lateral ventricle dil... ORPHA:500150
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Cryptorchidism ORPHA:1865
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Agenesis of corpus callosum ORPHA:220493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Decreased testicular size, Agenesis of corpus callosum... OMIM:615287
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Hydrocele testis, Hydrocephalus OMIM:613603
Pentalogy Of Cantrell
Hypospadias, Encephalocele, Anencephaly, Hydrocephalus ORPHA:1335
Apert Syndrome
Ventriculomegaly, Ovarian neoplasm, Hydrocephalus, Agenesis of corpus callosum ORPHA:87
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Occipital meningocele, Hydrocephalus, Micropenis, Anencephaly OMIM:616546
Thoracoabdominal Syndrome
Hypospadias, Anencephaly, Hydrocephalus OMIM:313850
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Occipital encephalocele, Cryptorchidism, Agenesis of corpus callosum, Hydroceph... OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:253800
Joubert Syndrome
Encephalocele, Hydrocephalus ORPHA:475
Whipple Disease
Erectile dysfunction, Hydrocephalus ORPHA:3452
Vacterl With Hydrocephalus
Cryptorchidism, Abnormal fallopian tube morphology, Hydrocephalus, Spina bifida, Aqueductal stenosis ORPHA:3412
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Neonatal death OMIM:620351
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Achondroplasia
Hydrocephalus ORPHA:15
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Panhypopituitarism, Fusion of the left and... OMIM:610828
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal... ORPHA:63259
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Hypoplasia of penis, Holoprose... ORPHA:2166
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Hypogonadism, Cryptorchidism, Decreased growth hormone responses to growt... OMIM:101800
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus ORPHA:1666
Neurooculorenal Syndrome
Ectopic posterior pituitary, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydro... OMIM:620305
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Cryptorchidism OMIM:130720
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Cerebrooculonasal Syndrome
Ventriculomegaly, Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker... OMIM:605627
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Laurin-Sandrow Syndrome
Hydrocephalus, Cryptorchidism ORPHA:2378
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Aplasia of the vagina, Agenesis of corpus callosum, Aplasia of the uterus, Hydr... ORPHA:457284
Arachnoid Cyst
Holoprosencephaly, Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus ORPHA:2356
Meningioma
Secondary growth hormone deficiency, Pituitary hypothyroidism, Increased circulating prolactin co... ORPHA:2495
Biliary, Renal, Neurologic, And Skeletal Syndrome
Lateral ventricle dilatation, Neonatal death, Hydrocephalus, Anterior pituitary hypoplasia, Aqued... OMIM:619534
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules ORPHA:25
Stromme Syndrome
Agenesis of corpus callosum, Hydrocephalus, Stillbirth OMIM:243605
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Hydrocephalus, Stillbirth OMIM:259720
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Short-Rib Thoracic Dysplasia 12
Neonatal death, Ambiguous genitalia, Hydrocephalus, Holoprosencephaly, Anencephaly OMIM:269860
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Oeis Complex
Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitali... OMIM:258040
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Monosomy 18Q
Micropenis, Secondary growth hormone deficiency, Hydrocephalus, Bilateral cryptorchidism ORPHA:1600
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:228308
Alexander Disease
Precocious puberty, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum ORPHA:58
Holoprosencephaly 9
Anterior pituitary agenesis, Alobar holoprosencephaly, Decreased response to growth hormone stimu... OMIM:610829
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Cryptorchidism, Agenesis of corpus callosum ORPHA:250989
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Cousin Syndrome
Ambiguous genitalia, male, Ambiguous genitalia, female, Hydranencephaly, Hydrocephalus OMIM:260660
Jacobsen Syndrome
Cryptorchidism, Hydrocephalus, Labial hypoplasia, Holoprosencephaly, Hypospadias, Clitoral hypopl... OMIM:147791
Thakker-Donnai Syndrome
Communicating hydrocephalus, Rectovaginal fistula, Agenesis of corpus callosum ORPHA:1780
Apert Syndrome
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Vaginal atresia OMIM:101200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Cryptorchidism, Agenesis of corpus callosum, Colpocephaly, Hypospadias OMIM:614866
Monosomy 9Q22.3
Ovarian fibroma, Ventriculomegaly, Hydrocephalus ORPHA:77301
Fanconi Anemia
Ventriculomegaly, Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Hydroceph... ORPHA:84
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Hydrocephalus OMIM:616007
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Communicating hydrocephalus, Ovarian cyst OMIM:618188
Holoprosencephaly
Spinal dysraphism, Panhypopituitarism, Encephalocele, Cryptorchidism, Hydrocephalus, Hypoplasia o... ORPHA:2162
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Agenesis of corpus callosum ORPHA:157
Meckel Syndrome
Encephalocele, Cryptorchidism, True hermaphroditism, Male pseudohermaphroditism, Ambiguous genita... ORPHA:564
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:314585
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Aplasia/hypoplasia of the uterus, Cryptorchidism, Hydrocephalus, Hypospadias, A... ORPHA:96121
Gorlin Syndrome
Hypogonadotropic hypogonadism, Ovarian fibroma, Hydrocephalus, Cryptorchidism ORPHA:377
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Penile hypospadias, Colpocephaly, Hypospadias, Cryptorchidism OMIM:620083
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Partial agenesis... OMIM:619512
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Lateral ventricle dilatation, Bifid scrotum, Septate vagina, Cryptorchidism, Agenes... ORPHA:261537
Meckel Syndrome, Type 1
Ventriculomegaly, Occipital encephalocele, Abnormality of the uterus, Ambiguous genitalia, female... OMIM:249000
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Hypospadias, Hydrocephalus, Cryptorchidism OMIM:305450
Otopalatodigital Syndrome Type 2
Myelomeningocele, Encephalocele, Hypospadias, Hydrocephalus ORPHA:90652
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Colpocephaly, Alobar holoprosencephaly, Agenesis of corpus callosum OMIM:301043
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Decreased thalamic volume, Hypoglycorrhachia ORPHA:168577
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Cryptorchidism OMIM:182212
Hurler Syndrome
Hydrocephalus OMIM:607014
Achondroplasia
Hydrocephalus OMIM:100800
Medulloblastoma
Hydrocephalus ORPHA:616
Cardiofaciocutaneous Syndrome
Hydrocephalus, Cryptorchidism ORPHA:1340
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Bifid scrotum, Septate vagina, Cryptorchidism, Colpocephaly, A... OMIM:270400
Orofaciodigital Syndrome Ii
Hydrocephalus OMIM:252100
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Lateral ventricle dilatation, Bifid scrotum, Septate vagina, Cryptorchidism, Agenes... ORPHA:261552
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Cryptorchidism, Agenesis of... ORPHA:2658
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Micropenis, Hypergonadotropic hypogon... OMIM:227646
Dubowitz Syndrome
Abnormal female external genitalia morphology, Cryptorchidism, Hydrocephalus, Spina bifida occult... ORPHA:235
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Kabuki Syndrome
Precocious puberty, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Hypospa... ORPHA:2322
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Raine Syndrome
Hydrocephalus, Neonatal death OMIM:259775
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Colpocephaly OMIM:618460
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Chordee, Hypospadias, Cryptorchidism ORPHA:477993
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Aymé-Gripp Syndrome
Ventriculomegaly, Hydrocephalus, Cryptorchidism ORPHA:1272
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Ovarian carcinoma, Hydrocephalus, Spina bifida OMIM:109400
Congenital Syphilis
Hydrocephalus, CSF pleocytosis ORPHA:499009
Marshall-Smith Syndrome
Ventriculomegaly, Bilateral cryptorchidism, Cryptorchidism, Agenesis of corpus callosum, Hydrocep... OMIM:602535
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Cystic Fibrosis
Male infertility OMIM:219700
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Orofaciodigital Syndrome I
Myelomeningocele, Ovarian cyst, Agenesis of corpus callosum, Hypothalamic hamartoma, Hydrocephalus OMIM:311200
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Hydrocephalus OMIM:614083
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus, Cryptorchidism ORPHA:2462
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Ventriculomegaly, Decreased response to growth hormone stimulation test, Cryp... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Ventriculomegaly, Decreased response to growth hormone stimulation test, Cryp... ORPHA:363958
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Hurler Syndrome
Hydrocephalus ORPHA:93473
Marden-Walker Syndrome
Abnormal penis morphology, Agenesis of corpus callosum, Hydrocephalus, Hypospadias, Epispadias ORPHA:2461
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Trisomy 8P
Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Micropenis, Dandy-Walker malformation ORPHA:264450
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Micropenis, Hypospadias, Hydrocephalus, Cryptorchidism ORPHA:163979
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Agenesis of corpus callosum, Male pseudohermaphr... ORPHA:2556
Cryptococcosis
Prostatitis, Hydrocephalus ORPHA:1546
Mucopolysaccharidosis Type 3
Ventriculomegaly, Hydrocephalus ORPHA:581
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Histiocytoid Cardiomyopathy
Polycystic ovaries, Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ventriculomegaly, Azoospermia, Hydrocephalus ORPHA:2072
Floating-Harbor Syndrome
Varicocele, Glandular hypospadias, Cryptorchidism, Epididymal cyst, Hypospadias OMIM:136140
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:300373
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Tetraamelia Syndrome 1
Vaginal atresia, Absent external genitalia, Hydrocephalus, Hypoplasia of the fallopian tube OMIM:273395
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Bicornuate uterus, Hydrocephalus OMIM:154400
6Q Terminal Deletion Syndrome
Colpocephaly, Hypospadias, Phimosis ORPHA:75857
Hajdu-Cheney Syndrome
Hypospadias, Hydrocephalus, Cryptorchidism OMIM:102500
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:538
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus OMIM:617011
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Decreased testicular size, Hypoplasia of the ovary, Hydrocephalus OMIM:619321
Cockayne Syndrome A
Irregular menstruation, Ventriculomegaly, Hypogonadism, Cryptorchidism, Micropenis, Normal pressu... OMIM:216400
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Fraser Syndrome 1
Clitoral hypertrophy, Myelomeningocele, Encephalocele, Cryptorchidism, Micropenis, Hydrocephalus,... OMIM:219000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventriculomegaly, Bifid scrotum, Decreased CSF 5-methyltetrahydrofolate concentration, Hydrocepha... OMIM:619475
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Cryptorchidism, Epididymal cyst, Hypospadias ORPHA:2044
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Hajdu-Cheney Syndrome
Hypospadias, Hydrocephalus ORPHA:955
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Agenesis of corpus callosum, Stillbirth, Bifid uterus, A... OMIM:236680
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Anencephaly ORPHA:2369
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Cryptorchidism ORPHA:261337
Noonan Syndrome 1
Hypogonadism, Hypospadias, Cryptorchidism, Male infertility OMIM:163950
Campomelic Dysplasia
Spinal dysraphism, Hydrocephalus, Spina bifida, Hypospadias, Sex reversal OMIM:114290
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
22Q11.2 Deletion Syndrome
Abnormality of the uterus, Cryptorchidism, Hydrocephalus, Spina bifida, Meningocele, Hypospadias ORPHA:567
Alström Syndrome
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Hypoplasia of the Ley... ORPHA:64
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hypogonadism, Hydrocephalus, Bilateral cryptorchidism ORPHA:3042
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Agenesis of corpus cal... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Agenesis of corpus cal... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Agenesis of corpus cal... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Agenesis of corpus cal... ORPHA:220386
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Cryptorchidism, Stillbirth OMIM:208150
Fontaine Progeroid Syndrome
Small scrotum, Cryptorchidism, Neonatal death, Hypoplastic labia majora, Hydrocephalus, Micropenis OMIM:612289
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Aqueductal stenosis, Hydrocephalus OMIM:306955
Pseudoaminopterin Syndrome
Hydrocephalus, Cryptorchidism ORPHA:221120
Microphthalmia With Limb Anomalies
Hydrocephalus, Cryptorchidism ORPHA:1106
Wolf-Hirschhorn Syndrome
Precocious puberty, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Aplasia of the... OMIM:194190
Peters Plus Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Spina bifida occulta, Hypoplasia of the uterus, ... ORPHA:709
Chilton-Okur-Chung Neurodevelopmental Syndrome
Cryptorchidism, Agenesis of corpus callosum, Mild fetal ventriculomegaly, Chordee, Anterior pitui... OMIM:619841
Osteogenesis Imperfecta
Ventriculomegaly, Hydrocephalus, Noncommunicating hydrocephalus ORPHA:666
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Cryptorchidism, Agenesis of corpus ca... OMIM:606170
Yunis-Varon Syndrome
Clitoral hypertrophy, Cryptorchidism, Agenesis of corpus callosum, Hypoplastic labia majora, Hydr... ORPHA:3472
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Cockayne Syndrome B
Normal pressure hydrocephalus, Micropenis, Cryptorchidism OMIM:133540
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hydrocele testis, Hypospadias, Cryptorchidism ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hydrocele testis, Hypospadias, Cryptorchidism ORPHA:353277
Costello Syndrome
Ventriculomegaly, Hydrocephalus OMIM:218040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Hydrocephalus OMIM:253280
Focal Dermal Hypoplasia
Myelomeningocele, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Labial hypoplasia, ... OMIM:305600
Gaucher Disease
Ventriculomegaly, Hydrocephalus ORPHA:355
Wiedemann-Rautenstrauch Syndrome
Long penis, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypospadias, Dandy-Walker... OMIM:264090
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Baller-Gerold Syndrome
Perineal fistula, Agenesis of corpus callosum, Hydrocephalus, Spina bifida occulta, Rectovaginal ... OMIM:218600
Acrofacial Dysostosis, Cincinnati Type
Ventriculomegaly, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Aqueductal stenosis, D... OMIM:616462
Peters-Plus Syndrome
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hypoplastic labia majora, Hypoplas... OMIM:261540
Townes-Brocks Syndrome 1
Rectovaginal fistula, Bifid scrotum, Cryptorchidism, Hydrocephalus, Rectoperineal fistula, Bifid ... OMIM:107480
Neurofibromatosis Type 1
Precocious puberty, Hydrocephalus, Cryptorchidism ORPHA:636
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:3455
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hydrocephalus, Spina bifida, Stillbirth, Hypospadias OMIM:304120
Tuberous Sclerosis Complex
Subependymal nodules, Pituitary adenoma, Noncommunicating hydrocephalus ORPHA:805
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Hydrocephalus, Frontal e... OMIM:268300
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Coffin-Siris Syndrome 12
Hypospadias, Cryptorchidism, Noncommunicating hydrocephalus OMIM:619325
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hydrocephalus, Cryptorchidism, Agenesis of corpus callosum OMIM:312870
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cfap43

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cfap43.

No publications found that use IMPC mice or data for Cfap43.

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