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Gene: Cfap57 MGI:2686209

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Gene Summary

Name:
cilia and flagella associated protein 57
Synonyms:
Wdr65,  1110020C03Rik,  LOC384050,  C130004B06Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skeletal muscle morphology Cfap57em1(IMPC)Mbp HOM Early adult 0.00
abnormal spinal cord morphology Cfap57em1(IMPC)Mbp HOM Early adult 0.00
hydrocephaly Cfap57em1(IMPC)Mbp HOM Early adult 0.00
abnormal brain morphology Cfap57em1(IMPC)Mbp HOM Early adult 0.00
male infertility Cfap57em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

Histopathology

Images

4 Images

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Human diseases caused by Cfap57 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cfap57 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
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 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 17
Male infertility OMIM:617214
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Deleted in azoospermia
Azoospermia OMIM:400003
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism OMIM:620103
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Trapezius muscle aplasia OMIM:600257
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Azoospermia OMIM:615703
Young Syndrome
Azoospermia OMIM:279000
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp... ORPHA:52901
Spermatogenic Failure 28
Decreased testicular size, Male infertility, Non-obstructive azoospermia OMIM:618086
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Decreased muscle mass, Myopathy OMIM:607091
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Infertility, Decreased testicular size, Hypogonadism, Primary amenorrhea OMIM:229070
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... ORPHA:320391
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Adrenal Hypoplasia, Congenital
Azoospermia, Oligozoospermia, Precocious puberty, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:300200
47,Xyy Syndrome
Male infertility, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Cryptorchidism, Micropen... ORPHA:8
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Muscular dystrophy, Ventriculomegaly OMIM:614830
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... OMIM:612650
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid... OMIM:614837
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb muscle weakness, Hydrocephalus, Triceps weakness, Hand muscle weakness, Abnorma... ORPHA:99947
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Macroorchidism, postpubertal, Infertility, Oligozoospermia, Impoten... ORPHA:91348
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Azoospermia OMIM:618300
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased testicular size, Hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:614897
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Fried Syndrome
Hydrocephalus, Skeletal muscle atrophy ORPHA:85335
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... OMIM:228300
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Muscular dystrophy, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Flexion contracture OMIM:300884
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma, Syringomyelia OMIM:249400
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Frontal encephalocele, Hydrocephalus ORPHA:261102
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Lead Poisoning
Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abnormality of the m... ORPHA:330015
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... ORPHA:90797
1Q21.1 Microduplication Syndrome
Hydrocephalus, Arthrogryposis multiplex congenita ORPHA:250994
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Amenorrhea, Oligozoospermia, Hypogonadism ORPHA:91351
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Kleeblattschaedel
Hydrocephalus OMIM:148800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Hydrocephalus, Calf muscle hypertrophy, Facial palsy, Flexion contracture, Ma... OMIM:613155
Hemangioblastoma
Hydrocephalus, Upper limb muscle weakness, Spinal hemangioblastoma, Lower limb muscle weakness ORPHA:252054
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of fing... ORPHA:272
Biemond Syndrome Type 2
Hydrocephalus, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:141333
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Elbow flexion contracture OMIM:619470
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Limb muscle we... OMIM:207950
Myotonic Dystrophy 2
Oligozoospermia, Hypogonadism OMIM:602668
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Generalized Glucocorticoid Resistance Syndrome
Infertility, Oligozoospermia, Female pseudohermaphroditism, Oligomenorrhea, Precocious puberty, A... ORPHA:786
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of ... ORPHA:432
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Skeletal muscle atrophy ORPHA:275543
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Testicular atrophy, Decreased testicular size, Small scrotum, Cryptorchidism, Microp... OMIM:308700
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Occipital encephalocele, Skeletal muscle hypertrophy, Calf muscle pseudohyper... ORPHA:370959
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:380
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Hydrocephalus, Dandy-Walker malformation, Left ventricular hypertrophy, Ventr... OMIM:613153
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes... ORPHA:99429
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism ORPHA:2067
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology, Distal amyotrophy ORPHA:139578
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligomenorrhea, Primary ... ORPHA:79239
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Myopathy, Meningocele ORPHA:588
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul... OMIM:616034
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly OMIM:614120
Foix-Alajouanine Syndrome
Distal lower limb muscle weakness, Cervical myelopathy, Hyperintensity of MRI T2 signal of the sp... ORPHA:79093
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Hypogonadism OMIM:601794
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Muscular dystrophy OMIM:615181
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Camptodactyly of toe, Ventriculomegaly, Abnormal muscle fiber morphology, Joint co... OMIM:175700
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation, Syringomyelia, Camptodactyly OMIM:614846
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Muscular dystrophy, Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Flexion co... OMIM:613154
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism ORPHA:494
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hypoplasia of the musculature, Dandy-Walker malformation, Hydrocephalus, Joint c... OMIM:225790
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Houge-Janssens Syndrome 1
Congenital muscular torticollis, Ventriculomegaly, Hydrocephalus, Facial hypotonia OMIM:616355
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligozoospermia, Clitoral hypoplasia OMIM:614813
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Macroglossia, Myelomeningocele ORPHA:1914
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle OMIM:220220
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Ragged-red muscle fibers, Scapular winging, Congenital finger flex... OMIM:620351
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Oxoglutaric Aciduria
Hydrocephalus, Skeletal muscle atrophy ORPHA:31
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Flexion contracture OMIM:147800
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism ORPHA:1908
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation, Facial palsy, Flexion contracture, Diaphragmatic eventr... OMIM:310400
Czeizel-Losonci Syndrome
Spina bifida occulta, Hydrocephalus, Aplasia of the left hemidiaphragm, Myelomeningocele, Spina b... ORPHA:2437
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Bloom Syndrome
Premature ovarian insufficiency, Oligozoospermia, Male infertility, Azoospermia ORPHA:125
Metatropic Dysplasia
Hydrocephalus, Camptodactyly of finger ORPHA:2635
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly, Facial hypotonia OMIM:616362
Iniencephaly
Congenital diaphragmatic hernia, Syringomyelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-... ORPHA:63259
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly, Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Adams-Oliver Syndrome 2
Hydrocephalus, Limb hypertonia, Lateral ventricle dilatation OMIM:614219
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:1926
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Absent extraocular muscles OMIM:109120
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital sinus anomaly, Mic... ORPHA:1772
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Flexion contracture OMIM:613330
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Arachnoid Cyst
Encephalocele, Hydrocephalus, Facial palsy, Spinal arachnoid cyst, Enlarged fossa interpeduncular... ORPHA:2356
Emanuel Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Dandy-Walker malformation, Infertility, Hypogonad... ORPHA:96170
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Fanconi Anemia, Complementation Group R
Hydrocephalus, Tethered cord OMIM:617244
Temple Syndrome
Hydrocephalus, Flexion contracture OMIM:616222
Solitary Bone Cyst
Abnormal spinal cord morphology, Muscular edema ORPHA:83468
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Encephalocele, Skeletal muscle hypertrophy, Hydrocephalus, Congenital contrac... OMIM:613150
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Tethered cord,... ORPHA:268810
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Coach Syndrome 2
Hydrocephalus OMIM:619111
Lateral Meningocele Syndrome
Syringomyelia, Dural ectasia, Meningocele, Hydrocephalus, Tethered cord, Decreased muscle mass OMIM:130720
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Colpocephaly, Distal arthrogryposis OMIM:619833
Temple Syndrome
Hydrocephalus ORPHA:254516
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele OMIM:241800
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Muscular dystrophy, Increased variability in muscle fiber diameter, Ventriculomegaly OMIM:616538
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Congenital contracture OMIM:620156
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Hydrocephalus, Dandy-Walker malformation, Joint con... OMIM:609029
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation OMIM:611134
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Muscular dystrophy, Flexion contracture OMIM:615249
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus ORPHA:1647
Walker-Warburg Syndrome
Muscular dystrophy, Hydrocephalus, Dandy-Walker malformation, Aplasia/Hypoplasia involving the sk... ORPHA:899
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Nephronophthisis 18
Hydrocephalus OMIM:615862
Triploidy
Hydrocephalus, Macroglossia, Holoprosencephaly, Meningocele ORPHA:3376
Adrenomyeloneuropathy
Distal lower limb muscle weakness, Erectile dysfunction, Dorsal column degeneration, Atrophy of t... ORPHA:139399
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Encephalocele, Hydrocephalus, Calf muscle hypertrophy, Holoprosencephaly, Fle... OMIM:253800
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Tethered cord, Myelome... OMIM:600145
Albers-Schönberg Osteopetrosis
Hydrocephalus, Facial palsy ORPHA:53
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Flexion contracture, Ventriculomegaly OMIM:304340
Crouzon Syndrome
Hydrocephalus ORPHA:207
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Distal Triplication 15Q
Syringomyelia, Hydrocephalus, Dandy-Walker malformation, Camptodactyly, Flexion contracture ORPHA:314588
Trisomy 1Q
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventriculomegaly, Hydrocephalus ORPHA:261344
Trisomy 17P
Hydrocephalus, Flexion contracture, Macroglossia, Skeletal muscle atrophy ORPHA:261290
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Macroglossia, Flexion contracture, Cervical cord compression OMIM:309900
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Lower limb hypertonia, Ventriculomegaly ORPHA:2169
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Dandy-Walker malformation, Camptodactyly, Ventriculomegaly, Arthrogryposis multipl... OMIM:617822
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Atrophy of the spinal cord, Lower limb muscle weakness ORPHA:395
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Carney Complex
Testicular neoplasm, Ovarian dermoid cyst, Decreased fertility in males, Oligozoospermia, Ovarian... ORPHA:1359
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Flexion contracture, Hypogonadism, Ventriculomegaly ORPHA:500055
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Left ventricular hypertrophy ORPHA:90065
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus, Facial hypotonia OMIM:619320
Large Congenital Melanocytic Nevus
Hydrocephalus, Rhabdomyosarcoma ORPHA:626
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry, Scapular winging, Dural ectasia OMIM:616914
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele OMIM:614195
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly, Skeletal muscle atrophy OMIM:614969
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Decreased muscle mass OMIM:612940
Bresek Syndrome
Hydrocephalus ORPHA:85284
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly, Hypogonadism, Hypergonadotropic hypogonadism OMIM:300514
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Pelvis-Shoulder Dysplasia
Hydrocephalus, Camptodactyly of finger, Spina bifida, Hydranencephaly ORPHA:2839
Arachnoiditis
Hydrocephalus ORPHA:137817
Peho Syndrome
Hydrocephalus, Ventriculomegaly, Arthrogryposis multiplex congenita, Flexion contracture ORPHA:2836
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly, Macroglossia OMIM:616260
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:2409
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Camptodactyly ORPHA:459061
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:1834
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Elbow flexion contracture, Spina bifida, Generalized amyotrophy, Knee flexion cont... OMIM:613776
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Encephalocele, Meningocele OMIM:614424
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Whipple Disease
Myositis, Erectile dysfunction, Hydrocephalus ORPHA:3452
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele, Camptodactyly, Joint contracture of the hand OMIM:224400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
X-Linked Cerebral Adrenoleukodystrophy
Facial myokymia, Hamstring contractures, Abnormal spinal cord morphology, Male hypogonadism, Myel... ORPHA:139396
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:2075
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration OMIM:272200
Muenke Syndrome
Hydrocephalus ORPHA:53271
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus, Facial paralysis OMIM:259710
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Hydrolethalus
Hydrocephalus, Anencephaly ORPHA:2189
Tetrasomy 9P
Polymicrogyria, Infertility, Oligozoospermia, Pachygyria, Lissencephaly, Cryptorchidism, Micropenis ORPHA:3310
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Facial palsy, Facial paralysis OMIM:259700
Tetrasomy 5P
Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:3309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Muscular dystrophy, Occipital encephalocele, Anencephaly, Hydromyelia, Hydrocephalus, Dandy-Walke... OMIM:615287
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... OMIM:619895
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst OMIM:617866
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly OMIM:614643
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Flexion contracture, Encephalocele ORPHA:1865
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly, Progressive flexion contractures ORPHA:93932
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly ORPHA:77298
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Camptodactyly of finger OMIM:619951
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:618476
Dural Sinus Malformation
Hydrocephalus, Myelopathy ORPHA:97339
Acute Disseminated Encephalomyelitis
Myelitis, Abnormal spinal cord morphology, CSF lymphocytic pleiocytosis, Increased CSF protein co... ORPHA:83597
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
15Q Overgrowth Syndrome
Syringomyelia, Hydrocephalus, Dandy-Walker malformation, Contracture of the proximal interphalang... ORPHA:314585
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Superficial Siderosis
Enlarged sylvian cistern, Atrophy of the spinal cord, Increased CSF protein concentration, Abnorm... ORPHA:247245
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly ORPHA:88628
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Anencephaly, Hydrocephalus OMIM:313850
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Anencephaly, Hydrocephalus, Occipital meningocele, Ventriculomegaly OMIM:616546
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Irregular menstruation OMIM:616482
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
H Syndrome
Azoospermia, Hydrocephalus, Camptodactyly, Hypogonadism, Amenorrhea ORPHA:168569
Limb Body Wall Complex
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus,... ORPHA:2369
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Flexion contracture, Camptodactyly OMIM:207410
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Macroglossia, Diastasis recti, Flexion contracture OMIM:253220
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Muscular dystrophy, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoenc... OMIM:236670
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Rhabdomyolysis, Myopathy ORPHA:157
Icf Syndrome
Macroglossia, Communicating hydrocephalus ORPHA:2268
Renal Cysts And Diabetes Syndrome
Hypospadias, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Epididymal cyst, Hy... OMIM:137920
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1812
Medulloblastoma
Hydrocephalus, Spinal cord tumor ORPHA:616
Lhermitte-Duclos Disease
Hydrocephalus, Macroglossia ORPHA:65285
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Mirage Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism OMIM:617053
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Elbow flexion contracture, Hydrocephalus, Left ventricular hyper... OMIM:245600
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
Holoprosencephaly
Congenital diaphragmatic hernia, Spinal cord tumor, Encephalocele, Hydrocephalus, Dandy-Walker ma... ORPHA:2162
Achondroplasia
Hydrocephalus ORPHA:15
Desmosterolosis
Hydrocephalus, Ventriculomegaly, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Full Nf2-Related Schwannomatosis
Spinal cord tumor, Hydrocephalus, Facial palsy, Foot dorsiflexor weakness, Wrist drop, Myelopathy ORPHA:637
Mosaic Variegated Aneuploidy Syndrome 1
Embryonal rhabdomyosarcoma, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus OMIM:257300
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Hurler Syndrome
Hydrocephalus, Macroglossia, Flexion contracture OMIM:607014
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Congenital fibrosis of extraocular muscles, Normal pressure hydrocephalus, Torticollis, Lateral v... ORPHA:300570
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida ORPHA:3412
Crouzon Syndrome
Hydrocephalus OMIM:123500
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Chordee, Colpocephaly, Hydrocephalus OMIM:309801
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology ORPHA:228123
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Irregular menstruation, Hypogonadism OMIM:101800
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly, Facial palsy, Limb hypertonia OMIM:259720
Desmosterolosis
Hydrocephalus, Ventriculomegaly ORPHA:35107
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Flexion contracture OMIM:616007
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Wrist flexion contracture, Camptodactyly, Joint contracture of th... OMIM:260660
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Anencephaly OMIM:612284
Mucopolysaccharidosis Type 1
Hydrocephalus, Abnormal tendon morphology ORPHA:579
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Macroglossia, Cervical myelopathy, Flexion contracture OMIM:253200
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Elbow contracture, Knee flexion contracture OMIM:618162
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly OMIM:612651
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Limb hypertonia, Hydranencephaly, Hydrocephalus, Dilated third ventricle, Colpocephaly, Lateral v... OMIM:620371
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Alexander Disease
Hydrocephalus, Aqueductal stenosis, Facial palsy ORPHA:58
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Camptodactyly, Joint contracture of the hand OMIM:182212
Hurler Syndrome
Hydrocephalus, Camptodactyly of finger, Macroglossia ORPHA:93473
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Opitz-Kaveggia Syndrome
Hydrocephalus, Multiple joint contractures, Camptodactyly, Joint contracture of the hand OMIM:305450
Stromme Syndrome
Hydrocephalus, Myopathy OMIM:243605
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Spina bifida occulta, Hydrocephalus, Facial palsy, Camptodactyly, Joi... OMIM:300373
Marden-Walker Syndrome
Muscular dystrophy, Hydrocephalus, Aplasia/Hypoplasia involving the skeletal musculature, Camptod... ORPHA:2461
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele ORPHA:1454
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Communicating hydrocephalus ORPHA:1780
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:613603
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Ventriculomegaly, Hydrocephalus, Camptodactyly ORPHA:1272
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:268249
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Ventriculomegaly, Hydrocephalus ORPHA:96121
Otopalatodigital Syndrome Type 2
Hydrocephalus, Camptodactyly of finger, Encephalocele, Myelomeningocele ORPHA:90652
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly, Rhabdomyosarcoma ORPHA:77301
Marshall-Smith Syndrome
Hydrocephalus, Ventriculomegaly, Cervical cord compression OMIM:602535
Cryptococcosis
Hydrocephalus, Prostatitis, Limb muscle weakness ORPHA:1546
Amoebiasis Due To Free-Living Amoebae
CSF lymphocytic pleiocytosis, Facial palsy, Myocardial necrosis, Increased CSF protein concentrat... ORPHA:68
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly, Macroglossia, Flexion contracture ORPHA:581
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Monosomy 18Q
Hydrocephalus ORPHA:1600
Meningioma
Hydrocephalus, Facial palsy, Upper limb muscle weakness, Impotence, Amenorrhea, Hypogonadotropic ... ORPHA:2495
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Holoprosencephaly, Anencephaly OMIM:269860
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Rhabdomyosarcoma, Spina bifida OMIM:162200
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus, Macroglossia, Flexion contracture ORPHA:505248
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis, Arthrogryposis multiplex congenita OMIM:619512
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus, Multiple joint contractures, Torticollis ORPHA:536467
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:605627
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Wrist flexion contracture, Congenital contracture, Camptodactyly of finger, Genera... OMIM:208150
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly, Flexion contracture OMIM:147791
Raine Syndrome
Hydrocephalus, Arthrogryposis multiplex congenita OMIM:259775
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Abnormality of the musculature of the limbs ORPHA:137667
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus, Macroglossia, Myopathy OMIM:261740
Fanconi Anemia
Azoospermia, Hydrocephalus, Decreased fertility in males, Spina bifida, Hypogonadism, Ventriculom... ORPHA:84
Achondroplasia
Hydrocephalus OMIM:100800
Shprintzen-Goldberg Syndrome
Camptodactyly of finger, Ventriculomegaly, Communicating hydrocephalus, Aplasia/Hypoplasia of the... ORPHA:2462
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Craniopharyngioma
Hydrocephalus, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:54595
Congenital Syphilis
Hydrocephalus, CSF pleocytosis ORPHA:499009
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation, Cervicitis ORPHA:722
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Atrophy of the spinal cord ORPHA:79282
Koolen-De Vries Syndrome Due To A Point Mutation
Dural ectasia, Hydrocephalus, Spina bifida, Hand muscle atrophy, Ventriculomegaly ORPHA:363965
17Q21.31 Microdeletion Syndrome
Dural ectasia, Hydrocephalus, Spina bifida, Hand muscle atrophy, Ventriculomegaly ORPHA:363958
Gorlin Syndrome
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Cystic Fibrosis
Male infertility OMIM:219700
Orofaciodigital Syndrome Ii
Hydrocephalus OMIM:252100
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Hip contracture, Flexion contracture, Hypogonadism, Myopathy ORPHA:3042
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Facial hypotonia ORPHA:457284
Dextrocardia
Hydrocephalus ORPHA:1666
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Kabuki Syndrome
Congenital diaphragmatic hernia, Ventriculomegaly, Hydrocephalus ORPHA:2322
Hajdu-Cheney Syndrome
Hydrocephalus, Syringomyelia ORPHA:955
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Aqueductal stenosis, Hydrocephalus OMIM:154400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2166
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Communicating hydrocephalus OMIM:618188
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Hypergonadotropic hypogonadism OMIM:227646
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Dilated fourth ve... OMIM:249000
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Alpha-Mannosidosis, Infantile Form
Macroglossia, Communicating hydrocephalus, Myopathy, Facial hypotonia ORPHA:309282
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation, Multiple joint contractures ORPHA:264450
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Osteogenesis Imperfecta
Syringomyelia, Hydrocephalus, Flexion contracture, Noncommunicating hydrocephalus, Ventriculomegaly ORPHA:666
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of toe, Camptodactyly of finger, Macroglossia, Hydrocephalus ORPHA:261337
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Limb hypertonia ORPHA:401973
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Neurooculorenal Syndrome
Hydrocephalus, Ventriculomegaly, Aqueductal stenosis OMIM:620305
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Facial palsy, Hypogonadism ORPHA:2658
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Spina bifida, Contracture of the distal interphalangeal joint o... OMIM:114290
Meckel Syndrome
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Lobar holoprosencephaly ORPHA:564
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Ventriculomegaly, Decreased CSF 5-methyltetrahydrofolate concentration, Torticollis OMIM:619475
Cockayne Syndrome A
Normal pressure hydrocephalus, Hip contracture, Hypogonadism, Ventriculomegaly, Irregular menstru... OMIM:216400
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele ORPHA:1571
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele OMIM:311200
Mucopolysaccharidosis Type 2
Flexion contracture of digit, Communicating hydrocephalus, Contractures of the large joints, Macr... ORPHA:580
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Communicating hydrocephalus ORPHA:168577
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Oeis Complex
Hydrocephalus, Tethered cord, Myelomeningocele OMIM:258040
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Hydrocephalus ORPHA:221120
22Q11.2 Deletion Syndrome
Hydrocephalus, Meningocele, Spina bifida ORPHA:567
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Hydrocephalus, Elbow flexion contracture, Hip contracture, Colpocep... OMIM:210710
Wolf-Hirschhorn Syndrome
Hydrocephalus, Ventriculomegaly, Decreased muscle mass, Tethered cord OMIM:194190
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Hypoplasia of the ovary, Flexion contracture OMIM:619321
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Occipital meningocele, Ho... OMIM:610829
Loeys-Dietz Syndrome 1
Hypoplasia of the musculature, Hydrocephalus, Dural ectasia, Camptodactyly OMIM:609192
Acrofacial Dysostosis, Cincinnati Type
Aqueductal stenosis, Syringomyelia, Hydrocephalus, Dandy-Walker malformation, Joint contracture, ... OMIM:616462
Costello Syndrome
Rhabdomyosarcoma, Hydrocephalus, Achilles tendon contracture, Ventriculomegaly, Macroglossia OMIM:218040
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Colpocephaly OMIM:270400
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Aqueductal stenosis, Myelomeningocele OMIM:306955
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:2556
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Ventriculomegaly, Azoospermia ORPHA:2072
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Exstrophy-Epispadias Complex
Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction, Spina bifida ORPHA:322
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Hydrocephalus OMIM:273395
Microphthalmia With Limb Anomalies
Hydrocephalus, Camptodactyly of 2nd-5th fingers ORPHA:1106
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus, Facial hypotonia ORPHA:457359
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Spina bifida occulta, Hydrocephalus, Diastasis recti, Myelomenin... OMIM:305600
Fontaine Progeroid Syndrome
Hydrocephalus, Hypoplasia of the abdominal wall musculature, Left ventricular hypertrophy OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Muscular dystrophy, Ventriculomegaly OMIM:253280
Loeys-Dietz Syndrome 2
Hydrocephalus, Dural ectasia, Camptodactyly, Joint contracture of the hand OMIM:610168
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus OMIM:617011
Chilton-Okur-Chung Neurodevelopmental Syndrome
Limb hypertonia, Communicating hydrocephalus, Chordee, Aplasia of the right hemidiaphragm, Mild f... OMIM:619841
Gaucher Disease
Hydrocephalus, Ventriculomegaly, Arthrogryposis multiplex congenita ORPHA:355
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect, Flexion contracture ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect, Flexion contracture ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect, Flexion contracture ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect, Flexion contracture ORPHA:93924
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Generalized amyotrophy, Dandy-Walker malformation, Flexion contracture OMIM:264090
Alström Syndrome
Precocious puberty in females, Hypoplasia of the Leydig cells, Decreased fertility in males, Dela... ORPHA:64
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Fraser Syndrome 1
Hydrocephalus, Encephalocele, Myelomeningocele OMIM:219000
Wiedemann-Rautenstrauch Syndrome
Limb hypertonia, Skeletal muscle hypertrophy, Hydrocephalus, Camptodactyly of finger, Hypogonadot... ORPHA:3455
Cockayne Syndrome B
Normal pressure hydrocephalus OMIM:133540
Peters Plus Syndrome
Hydrocephalus, Ventriculomegaly, Spina bifida occulta ORPHA:709
Neurofibromatosis Type 1
Hydrocephalus, Rhabdomyosarcoma ORPHA:636
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta OMIM:218600
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Camptodactyly of finger, Camptodactyly, Lateral ventricle dilatation OMIM:607872
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Facial hypotonia, Hydrocephalus, Diastasis recti, Right ventricu... OMIM:312870
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Primary Sjögren Syndrome
Myositis, Abnormal spinal cord morphology ORPHA:289390
Yunis-Varon Syndrome
Hydrocephalus ORPHA:3472
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Elbow contracture, Spina bifida OMIM:304120
Townes-Brocks Syndrome 1
Hydrocephalus, Tethered cord, Holoprosencephaly OMIM:107480
Hydrolethalus Syndrome 1
Dandy-Walker malformation, Agenesis of the diaphragm, Anencephaly, Severe hydrocephalus OMIM:236680
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Peters-Plus Syndrome
Hydrocephalus, Ventriculomegaly, Diastasis recti OMIM:261540
Tuberous Sclerosis Complex
Subependymal nodules, Noncommunicating hydrocephalus ORPHA:805
Coffin-Siris Syndrome 12
Facial palsy, Noncommunicating hydrocephalus OMIM:619325
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Aqueductal stenosis, Lateral ventricle dilatation OMIM:619534
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Hydrocephalus, Elbow flexion contracture, Wrist flexion contracture, K... OMIM:268300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Facial paralysis OMIM:175780
Craniofacial Microsomia 1
Hydrocephalus, Occipital encephalocele, Hypoplasia of facial musculature 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.

Phenotype Allele Zygosity Sex Life Stage
Brain - MPATH pathological entity term hydrocephalus Cfap57em1(IMPC)Mbp HOM Early adult
Nasal cavity - MPATH pathological process term acute inflammation Cfap57em1(IMPC)Mbp HOM Early adult

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 Cfap57.

No publications found that use IMPC mice or data for Cfap57.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cfap57tm478(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cfap57em1(IMPC)Mbp Exon Deletion Mice, Tissue
Cfap57tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cfap57tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cfap57tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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