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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 brain morphology Cfap57em1(IMPC)Mbp HOM Early adult 0.00
hydrocephaly Cfap57em1(IMPC)Mbp HOM Early adult 0.00
abnormal spinal cord morphology Cfap57em1(IMPC)Mbp HOM Early adult 0.00
male infertility Cfap57em1(IMPC)Mbp HOM Early adult 0.00
abnormal skeletal muscle morphology 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
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
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 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
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 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
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
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
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
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Trapezius muscle aplasia OMIM:600257
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Hydrocephalus, Decreased muscle mass, Dandy-Walker malformation OMIM:607091
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
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, Primary, 46
Reduced sperm motility OMIM:619436
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Muscular dystrophy, Ventriculomegaly OMIM:614830
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia ORPHA:261102
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Abnormal spinal c... ORPHA:99947
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Arthrogryposis multiplex congenita ORPHA:250994
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Syringomyelia, Dandy-Walker malformation OMIM:249400
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Fried Syndrome
Skeletal muscle atrophy, Hydrocephalus ORPHA:85335
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Congenital muscular dystrophy, Ventriculomegaly ORPHA:324416
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Hydrocephalus, Flexion contracture, Macroglossia, Calf muscle hypertrophy, Muscular... OMIM:613155
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Flexion contracture OMIM:300884
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb amyotrophy, Spinal cord lesion, Abnormal cerebrospinal fluid morphology, Hand muscle w... ORPHA:320355
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Hemangioblastoma
Upper limb muscle weakness, Hydrocephalus, Spinal hemangioblastoma, Lower limb muscle weakness ORPHA:252054
Kleeblattschaedel
Hydrocephalus OMIM:148800
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Flexion contract... ORPHA:272
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Elbow flexion contracture OMIM:619470
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:141333
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Limb muscle we... OMIM:207950
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Neural Tube Defects, Susceptibility To
Hydrocephalus, Spina bifida occulta, Anencephaly, Myelomeningocele OMIM:182940
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... ORPHA:786
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Cryptorchidism, Hydrocephalus, Camptodactyly of toe, Joint cont... OMIM:175700
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
L1 Syndrome
Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus ORPHA:275543
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylati... ORPHA:370959
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Congenital diaphragmatic hernia ORPHA:380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Muscular dystrophy, Left ventricular hypertrophy, Dandy-Walker malformation, Ventr... OMIM:613153
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology, Distal amyotrophy ORPHA:139578
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size ORPHA:649929
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Muscle-Eye-Brain Disease
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:618577
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Foix-Alajouanine Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Distal lower limb amyotrophy, Myelopathy, Spi... ORPHA:79093
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Flexion contracture, Lateral ventricle dilatation, Musc... OMIM:613154
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Muscular dystrophy OMIM:615181
Myopathy, Centronuclear, X-Linked
Facial palsy, Cryptorchidism, Hydrocephalus, Flexion contracture, Diaphragmatic eventration, Dand... OMIM:310400
Tetrasomy 15Q26
Hydrocephalus, Syringomyelia, Dandy-Walker malformation, Camptodactyly OMIM:614846
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Houge-Janssens Syndrome 1
Congenital muscular torticollis, Hydrocephalus, Facial hypotonia, Ventriculomegaly OMIM:616355
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Hydrocephalus, Hydranencephaly, Joint contracture, Dandy-Walker ma... OMIM:225790
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism ORPHA:494
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Vitamin K Antagonist Embryofetopathy
Macroglossia, Myelomeningocele, Hydrocephalus ORPHA:1914
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysra... ORPHA:1926
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Temple Syndrome
Cryptorchidism, Hydrocephalus, Flexion contracture, Decreased testicular size OMIM:616222
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Aase-Smith Syndrome I
Hydrocephalus, Flexion contracture, Dandy-Walker malformation OMIM:147800
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Temple Syndrome
Cryptorchidism, Hydrocephalus ORPHA:254516
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, Aplasia of th... ORPHA:2437
Oxoglutaric Aciduria
Skeletal muscle atrophy, Hydrocephalus ORPHA:31
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Metatropic Dysplasia
Hydrocephalus, Camptodactyly of finger ORPHA:2635
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Hydrocephalus ORPHA:171839
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Iniencephaly
Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, Hydrocephalus, An... ORPHA:63259
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Hydrocephalus, Ventriculomegaly, Knee flexion contracture OMIM:603387
Hogue-Janssen Syndrome 2
Hydrocephalus, Facial hypotonia, Ventriculomegaly OMIM:616362
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:218350
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:609757
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation, Limb hypertonia OMIM:614219
Lateral Meningocele Syndrome
Decreased muscle mass, Tethered cord, Cryptorchidism, Hydrocephalus, Meningocele, Dural ectasia, ... OMIM:130720
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Absent extraocular muscles, Ventriculomegaly OMIM:109120
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... ORPHA:268810
Bloom Syndrome
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia ORPHA:125
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Ventri... ORPHA:1647
Triploidy
Cryptorchidism, Hydrocephalus, Meningocele, Macroglossia, Holoprosencephaly ORPHA:3376
Emanuel Syndrome
Ventriculomegaly, Multiple joint contractures, Congenital diaphragmatic hernia, Cryptorchidism, H... ORPHA:96170
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Spinal cord compression, Spinal ar... ORPHA:2356
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Flexion contracture OMIM:613330
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Emanuel Syndrome
Torticollis, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Joint contracture, D... OMIM:609029
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Solitary Bone Cyst
Abnormal spinal cord morphology, Muscular edema ORPHA:83468
Walker-Warburg Syndrome
Skeletal muscle atrophy, Cryptorchidism, Hydrocephalus, Muscular dystrophy, Aplasia/Hypoplasia in... ORPHA:899
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, ... OMIM:613150
Fanconi Anemia, Complementation Group R
Hydrocephalus, Tethered cord OMIM:617244
Coach Syndrome 2
Hydrocephalus OMIM:619111
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Distal arthrogryposis, Ventriculomegaly OMIM:619833
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Hydrocephalus, Muscular dystrophy, Ventriculomegaly OMIM:616538
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Ventricu... ORPHA:261344
Distal Triplication 15Q
Hydrocephalus, Flexion contracture, Hydrocele testis, Syringomyelia, Camptodactyly, Dandy-Walker ... ORPHA:314588
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Flexion contracture, Muscular dystrophy OMIM:615249
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Congenital contracture OMIM:620156
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hy... OMIM:600145
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Nephronophthisis 18
Hydrocephalus OMIM:615862
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Adrenomyeloneuropathy
Atrophy of the spinal cord, Abnormal spinal cord morphology, Leg muscle stiffness, Dorsal column ... ORPHA:139399
Albers-Schönberg Osteopetrosis
Hydrocephalus, Facial palsy ORPHA:53
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Skeletal muscle atrophy OMIM:614969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Flexion contracture, Calf muscle hypertrop... OMIM:253800
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Flexion contracture, Dandy-Walker malformation, Ventriculomegaly OMIM:304340
Crouzon Syndrome
Hydrocephalus ORPHA:207
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus, Congenital diaphragmatic hernia ORPHA:2075
Trisomy 17P
Macroglossia, Skeletal muscle atrophy, Hydrocephalus, Flexion contracture ORPHA:261290
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Lower limb hypertonia, Ventriculomegaly ORPHA:2169
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Atrophy of the spinal cord, Hydrocephalus, Lower limb muscle weakness, Ventriculomegaly ORPHA:395
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Flexion contracture, Hypogonadism, Dilated third ventricle, Ventri... ORPHA:500055
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita, Dandy-Walker malformation, Vent... OMIM:617822
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Hydrocephalus, Congenital diaphragmatic hernia ORPHA:2409
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly ORPHA:2189
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Mucopolysaccharidosis, Type Ii
Macroglossia, Hydrocephalus, Flexion contracture, Cervical cord compression OMIM:309900
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Hydrocele testi... OMIM:613776
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:77298
Intellectual Developmental Disorder, Autosomal Dominant 65
Facial hypotonia, Noncommunicating hydrocephalus OMIM:619320
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Lateral ventricular asymmetry, Hydrocephalus, Dural ectasia OMIM:616914
Large Congenital Melanocytic Nevus
Hydrocephalus, Rhabdomyosarcoma ORPHA:626
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Arachnoiditis
Hydrocephalus ORPHA:137817
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Camptodactyly of finger, Spina bifida ORPHA:2839
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Decreased muscle mass OMIM:612940
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Peho Syndrome
Arthrogryposis multiplex congenita, Hydrocephalus, Flexion contracture, Ventriculomegaly ORPHA:2836
Fanconi Anemia, Complementation Group B
Hypogonadism, Hydrocephalus, Hypergonadotropic hypogonadism, Ventriculomegaly OMIM:300514
Tenorio Syndrome
Macroglossia, Hydrocephalus, Ventriculomegaly OMIM:616260
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Camptodactyly ORPHA:459061
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism ORPHA:1237
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Congenital diaphragmatic hernia ORPHA:1834
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Flexion contracture ORPHA:1865
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Joint contracture of the hand, Camptodactyly OMIM:224400
Muenke Syndrome
Hydrocephalus ORPHA:53271
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus, Facial paralysis OMIM:259710
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Hydrocephalus, Camptodactyly of finger OMIM:619951
Fg Syndrome Type 1
Cryptorchidism, Hydrocephalus, Progressive flexion contractures, Ventriculomegaly ORPHA:93932
Whipple Disease
Hydrocephalus, Erectile dysfunction, Myositis ORPHA:3452
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal spinal cord morphology, Hamstring contractures, Facial myokymia, Male hypogo... ORPHA:139396
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Facial paralysis, Facial palsy OMIM:259700
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Tetrasomy 9P
Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pachygyria, Polymicrogyria ORPHA:3310
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... OMIM:619895
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus OMIM:601499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Muscular dystrophy, Dandy-Walker malformation, Ventriculomegaly OMIM:614643
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Tetrasomy 5P
Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:3309
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia ORPHA:1335
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, C... OMIM:236670
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Hydrocephalus, Syringomyelia... ORPHA:314585
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Increased CSF protein concentration, Myelitis, CSF lymphocytic p... ORPHA:83597
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Vacterl With Hydrocephalus
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:3412
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly ORPHA:88628
H Syndrome
Hydrocephalus, Azoospermia, Hypogonadism, Camptodactyly, Decreased testicular size, Amenorrhea ORPHA:168569
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia OMIM:313850
Superficial Siderosis
Enlarged sylvian cistern, Lower limb muscle weakness, Abnormal cerebrospinal fluid morphology, At... ORPHA:247245
Mirage Syndrome
Cryptorchidism, Hydrocephalus, Hypergonadotropic hypogonadism, Decreased testicular size OMIM:617053
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly OMIM:616546
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Limb Body Wall Complex
Encephalocele, Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, Abnormal spinal co... ORPHA:2369
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:264480
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Hydrocephalus, Embryonal rhabdomyosarcoma, Dandy-Walker malformation, Ventriculom... OMIM:257300
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Irregular menstruation OMIM:616482
Holoprosencephaly
Encephalocele, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Spinal cord tumor,... ORPHA:2162
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Lhermitte-Duclos Disease
Macroglossia, Hydrocephalus ORPHA:65285
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Mucopolysaccharidosis, Type Vii
Macroglossia, Hydrocephalus, Flexion contracture, Diastasis recti OMIM:253220
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Flexion contracture, Camptodactyly OMIM:207410
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus ORPHA:220497
Carnitine Palmitoyltransferase Ii Deficiency
Myopathy, Hydrocephalus, Rhabdomyolysis ORPHA:157
Full Nf2-Related Schwannomatosis
Facial palsy, Myelopathy, Hydrocephalus, Spinal cord tumor, Wrist drop, Foot dorsiflexor weakness ORPHA:637
Joubert Syndrome
Encephalocele, Hydrocephalus ORPHA:475
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Icf Syndrome
Communicating hydrocephalus, Macroglossia ORPHA:2268
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Medulloblastoma
Hydrocephalus, Spinal cord tumor ORPHA:616
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus ORPHA:3301
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Spin... ORPHA:573278
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus ORPHA:220493
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1555
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Hydrocephalus, Elbow flexion contracture, Congenital diaphragmatic ... OMIM:245600
Desmosterolosis
Arthrogryposis multiplex congenita, Hydrocephalus, Joint contracture of the hand, Ventriculomegaly OMIM:602398
Achondroplasia
Hydrocephalus ORPHA:15
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Hurler Syndrome
Macroglossia, Hydrocephalus, Flexion contracture OMIM:607014
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Ventriculomegaly OMIM:612651
Acrodysostosis 1 With Or Without Hormone Resistance
Hypogonadism, Cryptorchidism, Hydrocephalus, Irregular menstruation OMIM:101800
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Congenital fibrosis of extraocular muscles, Lateral ventricle dilatation, Normal pressure hydroce... ORPHA:300570
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Desmosterolosis
Hydrocephalus, Ventriculomegaly ORPHA:35107
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Facial palsy, Ventriculomegaly, Limb hypertonia OMIM:259720
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Joint contracture of the hand, Camptodactyly OMIM:182212
Opitz-Kaveggia Syndrome
Multiple joint contractures, Cryptorchidism, Hydrocephalus, Camptodactyly, Joint contracture of t... OMIM:305450
Crouzon Syndrome
Hydrocephalus OMIM:123500
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Hydrocephalus, Chordee, Colpocephaly OMIM:309801
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Cousin Syndrome
Hydrocephalus, Camptodactyly, Hydranencephaly, Joint contracture of the hand, Wrist flexion contr... OMIM:260660
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Camptodactyly, Ventriculomegaly ORPHA:1272
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Flexion contracture OMIM:616007
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia ORPHA:228123
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Congenital diaphragmatic hernia, Ventriculomegaly ORPHA:96121
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Elbow contracture, Knee flexion contracture OMIM:618162
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Monosomy 18Q
Bilateral cryptorchidism, Hydrocephalus ORPHA:1600
Mucopolysaccharidosis, Type Vi
Macroglossia, Cervical myelopathy, Hydrocephalus, Flexion contracture OMIM:253200
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Cervical cord compression, Ventriculomegaly OMIM:602535
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Cryptorchidis... OMIM:208150
Jacobsen Syndrome
Cryptorchidism, Hydrocephalus, Flexion contracture, Holoprosencephaly OMIM:147791
Mucopolysaccharidosis Type 1
Abnormal tendon morphology, Hydrocephalus ORPHA:579
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Facial palsy ORPHA:58
Stromme Syndrome
Myopathy, Hydrocephalus OMIM:243605
Osteopathia Striata With Cranial Sclerosis
Facial palsy, Hydrocephalus, Spina bifida occulta, Camptodactyly, Joint contracture of the hand, ... OMIM:300373
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Hydrocephalus, Muscular dystrophy, Arthrogrypos... ORPHA:2461
Hurler Syndrome
Macroglossia, Hydrocephalus, Camptodactyly of finger ORPHA:93473
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Arthrogryposis multiplex congenita OMIM:619512
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Congenital diaphragmatic hernia ORPHA:268249
Thakker-Donnai Syndrome
Communicating hydrocephalus, Congenital diaphragmatic hernia ORPHA:1780
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypoplasia of the a... ORPHA:2462
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Facial palsy, Abnormal cerebrospinal fluid morphology, Abnormal spinal cord ... ORPHA:68
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1340
Neurofibromatosis, Type I
Aqueductal stenosis, Rhabdomyosarcoma, Hydrocephalus, Spina bifida OMIM:162200
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Otopalatodigital Syndrome Type 2
Encephalocele, Camptodactyly of finger, Myelomeningocele, Hydrocephalus ORPHA:90652
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Fanconi Anemia
Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Decreased fertility in males, Hypogonad... ORPHA:84
Dubowitz Syndrome
Cryptorchidism, Hydrocephalus, Spina bifida occulta ORPHA:235
Monosomy 9Q22.3
Rhabdomyosarcoma, Hydrocephalus, Ventriculomegaly ORPHA:77301
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Testicular neoplasm, Spina bifida, Cryptorchidism, Hydrocephalus, Dural ecta... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Testicular neoplasm, Spina bifida, Cryptorchidism, Hydrocephalus, Dural ecta... ORPHA:363958
Apert Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:101200
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus ORPHA:250989
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:2166
Cryptococcosis
Hydrocephalus, Prostatitis, Limb muscle weakness ORPHA:1546
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Hydrocephalus, Flexion contracture ORPHA:505248
Meningioma
Hypogonadotropic hypogonadism, Facial palsy, Hydrocephalus, Upper limb muscle weakness, Impotence... ORPHA:2495
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Kabuki Syndrome
Cryptorchidism, Hydrocephalus, Congenital diaphragmatic hernia, Ventriculomegaly ORPHA:2322
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus, Multiple joint contractures, Torticollis ORPHA:536467
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Myopathy, Hypogona... ORPHA:3042
Mucopolysaccharidosis Type 3
Macroglossia, Hydrocephalus, Flexion contracture, Ventriculomegaly ORPHA:581
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Atrophy of the spinal cord, Hydrocephalus ORPHA:79282
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Achondroplasia
Hydrocephalus OMIM:100800
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Raine Syndrome
Arthrogryposis multiplex congenita, Hydrocephalus OMIM:259775
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Abnormality of the musculature of the limbs ORPHA:137667
Craniopharyngioma
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:54595
Mohr Syndrome
Hydrocephalus OMIM:252100
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hydrocephalus, Myopathy OMIM:261740
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Limb hypertonia ORPHA:401973
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Facial hypotonia, Ventriculomegaly ORPHA:457284
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Camptodactyly of finger, Cry... OMIM:249000
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Trisomy 8P
Cryptorchidism, Hydrocephalus, Multiple joint contractures, Dandy-Walker malformation ORPHA:264450
Dextrocardia
Hydrocephalus ORPHA:1666
Neurooculorenal Syndrome
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:620305
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hydrocephalus, Hypergonadotropic hypogonadism OMIM:227646
Meckel Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ... ORPHA:564
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Congenital diaphragmatic hernia OMIM:154400
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Macroglossia, Camptodactyly of toe ORPHA:261337
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Hajdu-Cheney Syndrome
Hydrocephalus, Syringomyelia ORPHA:955
Oeis Complex
Cryptorchidism, Myelomeningocele, Tethered cord, Hydrocephalus OMIM:258040
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ventriculomegaly OMIM:618188
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus, Hypogonadism, Facial palsy ORPHA:2658
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Macroglossia, Facial hypotonia, Myopathy ORPHA:309282
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Cryptorchidism, Hydrocephalus ORPHA:221120
22Q11.2 Deletion Syndrome
Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipital myelomeningocele ORPHA:567
Osteogenesis Imperfecta
Hydrocephalus, Flexion contracture, Noncommunicating hydrocephalus, Syringomyelia, Ventriculomegaly ORPHA:666
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Campomelic Dysplasia
Contracture of the distal interphalangeal joint of the fingers, Hydrocephalus, Spina bifida, Spin... OMIM:114290
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Hydrocephalus ORPHA:163979
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Tethered cord, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:194190
Cockayne Syndrome A
Hip contracture, Cryptorchidism, Irregular menstruation, Normal pressure hydrocephalus, Hypogonad... OMIM:216400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly OMIM:619475
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Hypoplasia of the ovary, Flexion contracture, Decreased testicular size OMIM:619321
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Shoulder flexion contracture, Cryptorchidism, Hydrocephalus, Flexion contracture... OMIM:210710
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Cystic Fibrosis
Male infertility OMIM:219700
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus OMIM:102500
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus OMIM:311200
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Hydrocephalus, Colpocephaly, Holoprosencephaly, Dandy-Walker malformation OMIM:270400
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Spinal cord compression, Contractures of the large joints, Macroglos... ORPHA:580
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus, Camptodactyly of 2nd-5th fingers ORPHA:1106
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Holoprosencephaly 9
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:610829
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias OMIM:163950
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Abnormal testis morphology, Congenital diaphragmatic hernia ORPHA:2556
Costello Syndrome
Rhabdomyosarcoma, Hydrocephalus, Achilles tendon contracture, Macroglossia, Ventriculomegaly OMIM:218040
Focal Dermal Hypoplasia
Diastasis recti, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Myelomeningocele... OMIM:305600
Tetraamelia Syndrome 1
Hydrocephalus, Congenital diaphragmatic hernia OMIM:273395
Exstrophy-Epispadias Complex
Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction ORPHA:322
Fontaine Progeroid Syndrome
Left ventricular hypertrophy, Cryptorchidism, Hydrocephalus, Hypoplasia of the abdominal wall mus... OMIM:612289
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Myelomeningocele, Hydrocephalus OMIM:306955
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Muscular dystrophy, Ventriculomegaly OMIM:253280
Gaucher Disease
Arthrogryposis multiplex congenita, Hydrocephalus, Ventriculomegaly ORPHA:355
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Hydrocephalus, Ventriculomegaly ORPHA:2072
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Aplasia of the right hemidiaphragm, Cryptorchidism, Mild fetal ventr... OMIM:619841
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Facial hypotonia, Ventriculomegaly ORPHA:457359
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hydrocephalus, Flexion contracture, Generalized amyotrophy, Dandy-Walker malforma... OMIM:264090
Fraser Syndrome 1
Encephalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus OMIM:219000
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Loeys-Dietz Syndrome 2
Hydrocephalus, Joint contracture of the hand, Camptodactyly, Dural ectasia OMIM:610168
Mosaic Trisomy 20
Cryptorchidism, Abnormal spinal cord morphology ORPHA:1724
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Flexion contracture ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Flexion contracture ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Flexion contracture ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Flexion contracture ORPHA:93924
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Irregular men... ORPHA:64
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Cockayne Syndrome B
Cryptorchidism, Normal pressure hydrocephalus OMIM:133540
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Camptodactyly OMIM:607872
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Skeletal m... ORPHA:3455
Peters Plus Syndrome
Cryptorchidism, Hydrocephalus, Spina bifida occulta, Ventriculomegaly ORPHA:709
Loeys-Dietz Syndrome 1
Hydrocephalus, Camptodactyly OMIM:609192
Simpson-Golabi-Behmel Syndrome, Type 1
Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus... OMIM:312870
Neurofibromatosis Type 1
Cryptorchidism, Hydrocephalus ORPHA:636
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hydrocephalus, Elbow contracture, Spina bifida OMIM:304120
Townes-Brocks Syndrome 1
Cryptorchidism, Hydrocephalus, Tethered cord, Holoprosencephaly OMIM:107480
Yunis-Varon Syndrome
Cryptorchidism, Hydrocephalus ORPHA:3472
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta OMIM:218600
Peters-Plus Syndrome
Cryptorchidism, Hydrocephalus, Diastasis recti, Ventriculomegaly OMIM:261540
Kabuki Syndrome 1
Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Primary Sjögren Syndrome
Abnormal spinal cord morphology, Myositis ORPHA:289390
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Dandy-Walker malformation, Anencephaly, Severe hydrocephalus OMIM:236680
Coffin-Siris Syndrome 12
Cryptorchidism, Facial palsy, Noncommunicating hydrocephalus OMIM:619325
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Elbow flexion co... OMIM:268300
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation OMIM:619534
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Facial paralysis OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, 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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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