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

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 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
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella 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
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility 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 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Ob... ORPHA:399805
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Azoospermia OMIM:615703
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Young Syndrome
Azoospermia OMIM:279000
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... ORPHA:52901
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology OMIM:215520
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Ciliary Dyskinesia, Primary, 6
Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms OMIM:610852
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia OMIM:229070
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly OMIM:604213
Spermatogenic Failure 28
Azoospermia, Decreased testicular size OMIM:618086
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia OMIM:620032
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decrease... OMIM:614837
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology OMIM:612518
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Ciliary Dyskinesia With Excessively Long Cilia
Abnormal respiratory motile cilium morphology, Nasal polyposis OMIM:242680
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:600348
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology OMIM:225050
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Infertility, Absent outer dynein arms OMIM:613193
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
47,Xyy Syndrome
Micropenis, Hypospadias, Oligospermia, Varicocele, Male infertility, Azoospermia, Cryptorchidism,... ORPHA:8
Ciliary Dyskinesia, Primary, 17
Abnormal respiratory motile cilium morphology OMIM:614679
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Premature Ovarian Failure 10
Hypoplasia of the ovary, Primary amenorrhea, Decreased testicular size, Azoospermia, Premature ov... OMIM:612885
Adrenal Hypoplasia, Congenital
Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Azoospermia, Cryptorchidism OMIM:300200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Ciliary Dyskinesia, Primary, 15
Infertility, Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Immotil... OMIM:613808
Ciliary Dyskinesia, Primary, 28
Dynein arm defect of respiratory motile cilia OMIM:615505
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
16P13.2 Microdeletion Syndrome
Hydrocephalus, Micropenis, Dilated third ventricle, Ventriculomegaly, Hypogonadism, Cryptorchidism ORPHA:500055
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation ORPHA:85290
Kleeblattschaedel
Hydrocephalus OMIM:148800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Agenesis of corpus callosum, Cryptorchidism OMIM:619244
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Impotence, Ovarian cyst, Oligospermia, Abnormality of the menstrual cycl... ORPHA:91348
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms OMIM:614017
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hydrocephalus, Hypospadias, Hypogonadism ORPHA:141333
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia, Cryptorchidism OMIM:614897
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Partial agenesis of... ORPHA:79243
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle OMIM:617296
Cach Syndrome
Primary amenorrhea, Gonadal dysgenesis, T2 hypointense thalamus, Lateral ventricle dilatation, Se... ORPHA:135
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Colpocephaly, Hypospadias, Dilated third ventricle, Lateral ventricle dilatation, Ventriculomegal... ORPHA:397715
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Bilateral cryptorchidism, Dysplastic corpu... ORPHA:544488
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Hypogonadotropic hypogonadism, Abnormality o... OMIM:228300
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism ORPHA:91351
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Dandy-Walker malformation ORPHA:3078
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Nasal polyposis, Communicating hydrocephalus OMIM:244400
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Hydrolethalus Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly OMIM:614120
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Cryptorchidism ORPHA:250994
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms OMIM:615067
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Central Precocious Puberty
Hydrocephalus, Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Increas... ORPHA:759
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Hypospadias, Dilated third ventricle, Lateral ventricle dilatation... ORPHA:464738
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Nasal polyposis OMIM:616037
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Generalized Glucocorticoid Resistance Syndrome
Infertility, Precocious puberty, Oligomenorrhea, Oligospermia, Ambiguous genitalia, Female pseudo... ORPHA:786
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Cryptorchidism, Frontal encephalocele ORPHA:261102
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... OMIM:400045
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Slc35A2-Cdg
Lateral ventricle dilatation, Elevated circulating thyroid-stimulating hormone concentration, Pre... ORPHA:356961
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Autosomal Dominant Non-Syndromic Intellectual Disability
Lateral ventricle dilatation ORPHA:178469
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Cryptorchidism, Increased CSF lactate ORPHA:565624
Fried Syndrome
Hydrocephalus ORPHA:85335
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Lateral ventricle dilatation, Dysplastic corpus callosum, Ventriculomegaly ORPHA:488627
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macroorchidism OMIM:300886
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormality of the cerebrospinal fluid ORPHA:314404
Ciliary Dyskinesia, Primary, 38
Infertility, Absent inner and outer dynein arms OMIM:618063
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation, Glandular hypospadias, Abnormal preputium morp... ORPHA:293725
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosum, Dandy-Walker malfo... OMIM:225790
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Complete Androgen Insensitivity Syndrome
Blind vagina, Primary amenorrhea, Female external genitalia in individual with 46,XY karyotype, T... ORPHA:99429
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormality of thalamus mo... ORPHA:300570
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure ORPHA:85450
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Azoospe... OMIM:308700
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle OMIM:619575
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia, Cryptorchidism, Agenesis ... OMIM:618577
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Cryptorchidism, Hypogonadism OMIM:601794
Aicardi Syndrome
Precocious puberty, Choroid plexus cyst, Dilated third ventricle, Partial agenesis of the corpus ... OMIM:304050
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... ORPHA:432
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms, Nasal polyposis OMIM:614935
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Wars2-Related Combined Oxidative Phosphorylation Defect
Lateral ventricle dilatation, Dilated fourth ventricle, Ventriculomegaly ORPHA:572798
Ciliary Dyskinesia, Primary, 2
Infertility, Absent inner and outer dynein arms, Nasal polyposis OMIM:606763
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Anencephaly, Ventriculomegaly, Decreased testicular size, Occipital en... OMIM:615287
Cog5-Cdg
Lateral ventricle dilatation, Cryptorchidism, Micropenis ORPHA:263487
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Craniotelencephalic Dysplasia
Hydrocephalus, Agenesis of corpus callosum, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Pallister-Hall-Like Syndrome
Hydrocephalus, Hypothalamic hamartoma, Micropenis, Anterior hypopituitarism, Occipital encephalocele OMIM:241800
Distal Monosomy 10Q
Lateral ventricle dilatation, Spina bifida occulta ORPHA:96148
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Gapo Syndrome
Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism ORPHA:2067
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis OMIM:307000
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Azoospermia OMIM:235200
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Achondroplasia
Hydrocephalus OMIM:100800
Mosaic Trisomy 1
Penile hypospadias, Lateral ventricle dilatation, Agenesis of corpus callosum, Micropenis ORPHA:1692
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypospadias, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum OMIM:218350
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Temple Syndrome
Hydrocephalus, Cryptorchidism, Decreased testicular size OMIM:616222
Vacterl Association With Hydrocephalus
Hydrocephalus, Stillbirth, Aqueductal stenosis OMIM:276950
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation, Hypothalamic atrophy ORPHA:2822
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:617542
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia OMIM:614813
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Dilated fourth ventricle, Partial agenesis of the corpus callosum, Episp... ORPHA:434179
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation OMIM:220220
Temple Syndrome
Decreased response to growth hormone stimulation test, Hydrocephalus, Precocious puberty, Cryptor... ORPHA:254516
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Hypospadias, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum OMIM:175700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Ambiguous genitalia, male, Male pseudo... ORPHA:90791
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... ORPHA:90793
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, External genital hypoplasia, Hypogonadotro... ORPHA:177907
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Optic Pathway Glioma
Hydrocephalus, Precocious puberty ORPHA:2086
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Mend Syndrome
Hydrocephalus, Cryptorchidism, Dandy-Walker malformation OMIM:300960
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Hypospadias, Hydrocephalus OMIM:249630
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Primary amenorrh... ORPHA:91
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Hydrocephalus, Cryptorchidism, Ventriculom... OMIM:609757
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly OMIM:602200
Nephronophthisis 18
Hydrocephalus OMIM:615862
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Bresek Syndrome
Neonatal death, Hydrocephalus, Cryptorchidism, Decreased testicular size ORPHA:85284
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism ORPHA:300298
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Hydrocephalus, Cryptorchidism, Micropenis ORPHA:171839
Krabbe Disease
Hydrocephalus, Increased CSF protein OMIM:245200
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum, Cervical myelopathy OMIM:207950
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Cryptorchidism ORPHA:2701
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Bloom Syndrome
Male infertility, Azoospermia, Oligospermia, Premature ovarian insufficiency ORPHA:125
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Cryptorchidism, Agenesis of c... ORPHA:77298
Weiss-Kruszka Syndrome
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly OMIM:618619
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anter... ORPHA:91350
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Intellectual Developmental Disorder, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly OMIM:616355
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Ventriculomegaly OMIM:619833
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hydrocephalus, Dilated fourth ventricle, Ventriculomegaly, Occipital e... ORPHA:370959
Hydrolethalus
Hydrocephalus, Anencephaly, Arrhinencephaly, Abnormal fallopian tube morphology, Cryptorchidism, ... ORPHA:2189
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Hemangioblastoma
Hydrocephalus ORPHA:252054
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus ORPHA:1237
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal external genitalia, Micropenis, Abnormal ovarian morphology, Abnormality of male externa... ORPHA:95699
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydrocephalus, Decreased response to growth hormone stimulation test, Dandy-Walker m... OMIM:220210
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618476
Gorlin Syndrome
Hypogonadotropic hypogonadism, Hydrocephalus, Cryptorchidism ORPHA:377
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Meningocele, Encephalocele, Dandy-Walker malformation OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Triploidy
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Ambiguous genitalia, Meningoc... ORPHA:3376
Arachnoiditis
Hydrocephalus ORPHA:137817
Carney Complex
Sertoli cell neoplasm, Precocious puberty, Decreased fertility in males, Ovarian cyst, Leydig cel... ORPHA:1359
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Encephalocele OMIM:614424
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Diabetic Embryopathy
Hydrocephalus, Micropenis, Abnormal morphology of female internal genitalia, Spinal dysraphism, C... ORPHA:1926
Rhombencephalosynapsis
Hydrocephalus, Abnormality of the uterus, Fusion of the left and right thalami, Ventriculomegaly ORPHA:59315
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Endocrine-Cerebroosteodysplasia
Sex reversal, Hydrocephalus, Holoprosencephaly, Micropenis, Hypospadias, Ambiguous genitalia, Ven... OMIM:612651
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Encephalocele ORPHA:1908
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Hyposp... OMIM:137920
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Trisomy 1Q
Hydrocephalus, Ambiguous genitalia, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum... ORPHA:261344
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Cryptorchidism, Dandy-Walker malformation OMIM:310400
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Urethral atresia OMIM:314390
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of corpus callosum OMIM:609053
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Partial agenesis of the corpus callosum, Ve... ORPHA:1136
Genitopalatocardiac Syndrome
Hydrocephalus, Gonadal dysgenesis, male, Hypospadias, Male pseudohermaphroditism, Cryptorchidism ORPHA:2075
Oculocerebrocutaneous Syndrome
Hydrocephalus, Cryptorchidism, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Fanconi Anemia, Complementation Group B
Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Ventriculomegaly, Hypogonadism OMIM:300514
Crouzon Syndrome
Hydrocephalus ORPHA:207
Hec Syndrome
Vaginal hydrocele, Communicating hydrocephalus ORPHA:2119
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia ORPHA:228123
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Halperin-Birk Syndrome
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Emanuel Syndrome
Infertility, Hydrocephalus, Micropenis, Ventriculomegaly, Hypogonadism, Cryptorchidism, Agenesis ... ORPHA:96170
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Craniopharyngioma
Hydrocephalus, Enlarged pituitary gland, Abnormal hypothalamus morphology, Hypogonadotropic hypog... ORPHA:54595
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Micropenis, Ambiguous genitalia, Ventriculomegaly, Cryptorchidism OMIM:614969
Walker-Warburg Syndrome
Hydrocephalus, Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum... ORPHA:899
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Small scrotum, Micropenis OMIM:617822
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Beare-Stevenson Cutis Gyrata Syndrome
Prominent scrotal raphe, Hydrocephalus, Bifid scrotum, Ventriculomegaly, Agenesis of corpus callo... OMIM:123790
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hydrocephalus, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hy... OMIM:309801
Muenke Syndrome
Hydrocephalus ORPHA:53271
Holoprosencephaly 14
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Partial agenesis... OMIM:619895
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Cryptorchidism, Dandy-Walker malformation OMIM:612938
3C Syndrome
Hydrocephalus, Hypoplasia of penis, Hypospadias, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein OMIM:272200
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Holoprosencephaly 7
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Panhypopituitarism, Fusion of the lef... OMIM:610828
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Lateral ventricle dilatation, Dysplastic corpus callosum, Ventricul... ORPHA:500150
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Colpocephaly, Ventriculomegaly ORPHA:261250
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum ORPHA:1812
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Abnormal lateral ventricle morphology, Ven... ORPHA:1855
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Hydrocephalus, Cryptorchidism OMIM:601499
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Colpocephaly,... OMIM:617260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Pseudotrisomy 13 Syndrome
Hydrocephalus, Bicornuate uterus, Micropenis, Holoprosencephaly, Encephalocele, Cryptorchidism, A... OMIM:264480
Gracile Bone Dysplasia
Hydrocephalus, Micropenis OMIM:602361
Thanatophoric Dysplasia, Type I
Hydrocephalus, Neonatal death OMIM:187600
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Chordee, Dysplastic corpus callosum, Streak ovary, Holoprosencephaly, U... OMIM:618820
Tetrasomy 9P
Infertility, Micropenis, Pachygyria, Oligospermia, Polymicrogyria, Lissencephaly, Cryptorchidism ORPHA:3310
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Hypoplasminogenemia
Hydrocephalus, Cervicitis, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Abnormality of the male genitalia OMIM:614886
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly, Abnormal internal genitalia OMIM:612284
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Cryptorchidism, Dandy-Walker malformation OMIM:613001
Mirage Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism, Hypospadias, Decreased testicular size, Shawl scro... OMIM:617053
Desmosterolosis
Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Partial agenesis of the co... OMIM:602398
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
Lowry-Maclean Syndrome
Hypospadias, Hydrocephalus, Bilateral cryptorchidism ORPHA:2409
H Syndrome
Amenorrhea, Hydrocephalus, Micropenis, Decreased testicular size, Hypogonadism, Azoospermia ORPHA:168569
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Hydrocephalus, Agenesis of corpus callosum, Cryptorchidism ORPHA:3301
Joubert Syndrome With Renal Defect
Hydrocephalus, Agenesis of corpus callosum, Encephalocele ORPHA:220497
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Proteus-Like Syndrome
Polycystic ovaries, Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Lhermitte-Duclos Disease
Hydrocephalus, Ovarian neoplasm ORPHA:65285
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Hydrocephalus ORPHA:1834
Trisomy 17P
Hydrocephalus, Urethral stenosis, Hypoplasia of penis, Urethral valve ORPHA:261290
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Micropenis, Bifid scrotum, Hypospadias, Ambiguous genitalia, Ventriculomegaly, Cry... OMIM:257300
Fg Syndrome Type 1
Hydrocephalus, Small pituitary gland, Hypospadias, Ventriculomegaly, Cryptorchidism ORPHA:93932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, Encephalocele, Dandy-Wa... OMIM:614643
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Vaginal atresia, Hydrocephalus, Hypoplastic labia majora, Fused labia minora OMIM:207410
Desmosterolosis
Ambiguous genitalia, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:35107
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Decreased growth hormone responses to growth hormone-releasing hormone challenge, ... OMIM:101800
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Joubert Syndrome With Ocular Defect
Hydrocephalus, Agenesis of corpus callosum, Encephalocele ORPHA:220493
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Distal Tetrasomy 15Q
Hydrocele testis, Hydrocephalus, Dandy-Walker malformation, Abnormal external genitalia ORPHA:314588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Encephalocele OMIM:613150
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Cryptorchidism, Micropenis OMIM:619951
Pentalogy Of Cantrell
Hypospadias, Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Prominent scrotal raphe, Hydrocephalus, Cryptorchidism, Bifid scrotum ORPHA:1555
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum OMIM:612863
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ovarian neoplasm, Ventriculomegaly ORPHA:87
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Hypoplastic male external genitalia, Encephalocele OMIM:608091
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Cryptorchidism, Encephalocele ORPHA:1865
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Abnormal fallopian tube morphology, Cryptorc... ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Ventriculomegaly, Hypoplastic male external genitalia, Meningoencephalocele, Crypt... OMIM:236670
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Chordee, Micropenis, Bifid scrotum, Hypospadias, Septate vagina, Lateral ventri... ORPHA:261537
Thoracoabdominal Syndrome
Hypospadias, Hydrocephalus, Anencephaly OMIM:313850
Whipple Disease
Hydrocephalus, Erectile dysfunction ORPHA:3452
Popov-Chang syndrome
Hydrocephalus OMIM:618428
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Cousin Syndrome
Ambiguous genitalia, female, Hydrocephalus, Hydranencephaly, Ambiguous genitalia, male OMIM:260660
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... ORPHA:63259
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydrocele testis, Chordee, Micropenis, Bifid scrotum, Hypospadias, Septate vagina, Lateral ventri... ORPHA:261552
Dextrocardia
Hydrocephalus, Abnormal reproductive system morphology ORPHA:1666
Achondroplasia
Hydrocephalus</