Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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

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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

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, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... 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
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... OMIM:618433
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility 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
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 17
Male infertility OMIM:617214
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Deleted in azoospermia
Azoospermia OMIM:400003
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
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
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Trapezius muscle aplasia, Hydrocephalus OMIM:600257
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligozoospermia OMIM:615703
Young Syndrome
Azoospermia OMIM:279000
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib... ORPHA:52901
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility OMIM:618086
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest 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
Azoospermia, Male infertility OMIM:615841
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Dandy-Walker malformation, Hydrocephalus, Decreased muscle mass OMIM:607091
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility OMIM:229070
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Premature Ovarian Failure 10
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov... OMIM:612885
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... 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
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia OMIM:300200
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... ORPHA:8
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
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
Ventriculomegaly, Muscular dystrophy, Hydrocephalus OMIM:614830
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Ciliary Dyskinesia, Primary, 18
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility OMIM:614874
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Quadriceps muscle weakness, Hand muscle weakness, Distal lower limb amyotrophy, Foot dorsiflexor ... ORPHA:99947
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Functioning Gonadotropic Adenoma
Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov... ORPHA:91348
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
Fried Syndrome
Skeletal muscle atrophy, Hydrocephalus 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
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Muscular dystrophy, Occipital encephalocele, Hydrocephalus ORPHA:324416
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Hydrocephalus OMIM:300884
Melanosis, Neurocutaneous
Syringomyelia, Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Frontal encephalocele ORPHA:261102
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... ORPHA:330015
1Q21.1 Microduplication Syndrome
Arthrogryposis multiplex congenita, Hydrocephalus ORPHA:250994
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Pituitary Dermoid And Epidermoid Cysts
Hypogonadism, Amenorrhea, Oligomenorrhea, Oligozoospermia ORPHA:91351
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Infertility 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, Calf muscle hypertrophy, Hydrocephalus, Macroglossia, Flexion contracture, Fa... OMIM:613155
Hemangioblastoma
Hydrocephalus, Upper limb muscle weakness, Lower limb muscle weakness, Spinal hemangioblastoma ORPHA:252054
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Ventriculomegaly, Camptodactyly of finger, Myopathy, Hypoglycosylation of alp... ORPHA:272
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:141333
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hydrocephalus OMIM:619470
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru... OMIM:278850
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Absent inner and outer dynein arms OMIM:615444
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... OMIM:400045
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Syringomyelia, Spina bifida, Hydroce... OMIM:207950
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia, Oligomenorrhea, Oligozoosp... ORPHA:786
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus 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
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... ORPHA:432
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus 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
Male infertility, Absent inner and outer dynein arms OMIM:614935
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor... ORPHA:251510
L1 Syndrome
Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus ORPHA:275543
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:308700
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Ventriculomegaly, Occipital encephalocele, Reduced muscle fiber alpha dystrog... ORPHA:370959
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Congenital diaphragmatic hernia ORPHA:380
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Muscular dystrophy, Left ventricular hypertrophy, Hydrocephalus, Dandy-Walker m... OMIM:613153
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Distal amyotrophy, Abnormal spinal cord morphology ORPHA:139578
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova... ORPHA:79239
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Myopathy ORPHA:588
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... OMIM:616034
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelitis, Myelopathy, Male sexual dysfunction, Lower limb muscle weakness, F... ORPHA:79093
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Hydrocephalus OMIM:601794
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Hydrocephalus OMIM:615181
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Joint contracture of the hand, Camptodactyly of toe, Hydrocephalus, Abnormal mu... OMIM:175700
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Tetrasomy 15Q26
Syringomyelia, Camptodactyly, Hydrocephalus, Dandy-Walker malformation 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, Dilated third ventricle, Increased endomysial connective tissue, Lateral vent... OMIM:613154
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Abnormal spinal cord morphology ORPHA:494
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hypoplasia of the musculature, Hydranencephaly, Hydrocephalus, Joint contractur... OMIM:225790
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Houge-Janssens Syndrome 1
Facial hypotonia, Ventriculomegaly, Hydrocephalus, Congenital muscular torticollis OMIM:616355
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Macroglossia, Hydrocephalus 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
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Oxoglutaric Aciduria
Skeletal muscle atrophy, Hydrocephalus ORPHA:31
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera... ORPHA:90793
Aase-Smith Syndrome I
Flexion contracture, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly ORPHA:1908
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Flexion contracture, Facial palsy, Dandy-Walker malformation, Diaphragmatic eventr... OMIM:310400
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta, Posterolateral diaphragmatic... ORPHA:2437
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Metatropic Dysplasia
Hydrocephalus, Camptodactyly of finger ORPHA:2635
Bloom Syndrome
Premature ovarian insufficiency, Azoospermia, Oligozoospermia, Male infertility ORPHA:125
Houge-Janssens Syndrome 2
Facial hypotonia, Ventriculomegaly, Hydrocephalus OMIM:616362
Iniencephaly
Spinal dysraphism, Myelomeningocele, Congenital diaphragmatic hernia, Encephalocele, Anencephaly,... ORPHA:63259
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Skeletal muscle atrophy, Hydrocephalus, Knee flexion contracture OMIM:603387
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus 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
Adams-Oliver Syndrome 2
Hydrocephalus, Limb hypertonia, Lateral ventricle dilatation OMIM:614219
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, En... ORPHA:91
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus, 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
Ventriculomegaly, Absent extraocular muscles, Hydrocephalus OMIM:109120
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Flexion contracture, Hydrocephalus OMIM:613330
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Arachnoid Cyst
Enlarged fossa interpeduncularis, Lower limb muscle weakness, Spinal arachnoid cyst, Encephalocel... ORPHA:2356
Emanuel Syndrome
Ventriculomegaly, Hypogonadism, Congenital diaphragmatic hernia, Multiple joint contractures, Hyd... ORPHA:96170
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal male external genitalia morphology, Abnormal ovarian morphology, Increased size of the c... ORPHA:95699
Fanconi Anemia, Complementation Group R
Hydrocephalus, Tethered cord OMIM:617244
Temple Syndrome
Flexion contracture, Hydrocephalus OMIM:616222
Solitary Bone Cyst
Muscular edema, Abnormal spinal cord morphology ORPHA:83468
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Ventriculomegaly, Congenital ... OMIM:613150
Isolated Posterior Meningocele
Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Tethered co... ORPHA:268810
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Coach Syndrome 2
Hydrocephalus OMIM:619111
Lateral Meningocele Syndrome
Dural ectasia, Decreased muscle mass, Syringomyelia, Hydrocephalus, Meningocele, Tethered cord OMIM:130720
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Ventriculomegaly, Distal arthrogryposis, Hydrocephalus OMIM:619833
Temple Syndrome
Hydrocephalus ORPHA:254516
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, Muscular dystrophy, Hydrocephalus, Ventriculomegaly OMIM:616538
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Congenital contracture, Hydrocephalus OMIM:620156
Emanuel Syndrome
Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus, Joint contracture, Torticollis,... OMIM:609029
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Flexion contracture, Hydrocephalus OMIM:615249
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Congenital diaphragmatic hernia, Dandy-Walker malformation ORPHA:1647
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Ventriculomegaly, Skel... 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
Ventriculomegaly, Hydrocephalus OMIM:615630
Nephronophthisis 18
Hydrocephalus OMIM:615862
Triploidy
Macroglossia, Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Adrenomyeloneuropathy
Leg muscle stiffness, Male sexual dysfunction, Female sexual dysfunction, Distal lower limb muscl... ORPHA:139399
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Skeletal muscle atrophy, Encephalocele, Calf muscle hypertrophy, Hydrocephalu... OMIM:253800
Sacral Defect With Anterior Meningocele
Hydromyelia, Tethered cord, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal si... OMIM:600145
Albers-Schönberg Osteopetrosis
Facial palsy, Hydrocephalus ORPHA:53
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Aqueductal stenosis, Flexion contracture, Dandy-Walker malformation OMIM:304340
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Crouzon Syndrome
Hydrocephalus ORPHA:207
Distal Triplication 15Q
Syringomyelia, Hydrocephalus, Camptodactyly, Flexion contracture, Dandy-Walker malformation ORPHA:314588
Trisomy 1Q
Hydrocephalus, Ventriculomegaly, Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:261344
Trisomy 17P
Macroglossia, Flexion contracture, Skeletal muscle atrophy, Hydrocephalus ORPHA:261290
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus, Lower limb hypertonia ORPHA:2169
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Macroglossia, Flexion contracture, Cervical cord compression OMIM:309900
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita, Dandy-Walker ... OMIM:617822
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Atrophy of the spinal cord, Hydrocephalus, Lower limb muscle weakness ORPHA:395
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormal spinal cord morphology ORPHA:53721
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Hypogonadism, Hydrocephalus, Flexion contracture ORPHA:500055
Carney Complex
Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm... ORPHA:1359
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus OMIM:615219
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Intellectual Developmental Disorder, Autosomal Dominant 65
Facial hypotonia, Noncommunicating hydrocephalus OMIM:619320
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Hydrocephalus ORPHA:626
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Dural ectasia, Hydrocephalus, Scapular winging OMIM:616914
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Skeletal muscle atrophy, Hydrocephalus OMIM:614969
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Decreased muscle mass OMIM:612940
Bresek Syndrome
Hydrocephalus ORPHA:85284
Fanconi Anemia, Complementation Group B
Hypogonadism, Ventriculomegaly, Hydrocephalus, Hypergonadotropic hypogonadism OMIM:300514
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Hydrocephalus OMIM:614576
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydranencephaly, Spina bifida, Camptodactyly of finger ORPHA:2839
Arachnoiditis
Hydrocephalus ORPHA:137817
Peho Syndrome
Ventriculomegaly, Flexion contracture, Arthrogryposis multiplex congenita, Hydrocephalus ORPHA:2836
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Tenorio Syndrome
Macroglossia, Ventriculomegaly, Hydrocephalus OMIM:616260
Lowry-Maclean Syndrome
Hydrocephalus, Congenital diaphragmatic hernia ORPHA:2409
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Camptodactyly, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Congenital diaphragmatic hernia ORPHA:1834
Chromosome 17P13.1 Deletion Syndrome
Elbow flexion contracture, Knee flexion contracture, Hydrocephalus, Spina bifida, Generalized amy... OMIM:613776
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele, Dandy-Walker malformation 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
Camptodactyly, Hydrocephalus, Joint contracture of the hand, Encephalocele OMIM:224400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Myelopathy, Hamstring contractures, Facial myokymia, Abnormal spinal cord morp... ORPHA:139396
Genitopalatocardiac Syndrome
Hydrocephalus, Congenital diaphragmatic hernia ORPHA:2075
3C Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:7
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus OMIM:272200
Muenke Syndrome
Hydrocephalus ORPHA:53271
Osteopetrosis, Autosomal Recessive 2
Facial paralysis, Hydrocephalus OMIM:259710
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Hydrolethalus
Anencephaly, Hydrocephalus ORPHA:2189
Tetrasomy 9P
Polymicrogyria, Pachygyria, Cryptorchidism, Oligozoospermia, Micropenis, Infertility, Lissencephaly ORPHA:3310
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Osteopetrosis, Autosomal Recessive 1
Facial palsy, Facial paralysis, Hydrocephalus OMIM:259700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Muscular dystrophy, Hydromyelia, Occipital encephalocele, Hydrocephalus, Commun... OMIM:615287
Tetrasomy 5P
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrocephalus ORPHA:3309
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly... OMIM:619895
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Muscular dystrophy, Encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:614643
Pentalogy Of Cantrell
Hydrocephalus, Encephalocele, Anencephaly, Congenital diaphragmatic hernia ORPHA:1335
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Flexion contracture, Encephalocele ORPHA:1865
Fg Syndrome Type 1
Ventriculomegaly, Progressive flexion contractures, Hydrocephalus ORPHA:93932
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility 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
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Acute Disseminated Encephalomyelitis
CSF lymphocytic pleiocytosis, Increased CSF protein concentration, Myelitis, Abnormal spinal cord... ORPHA:83597
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Contracture of the proximal ... ORPHA:314585
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus ORPHA:59315
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Superficial Siderosis
Increased CSF protein concentration, Lower limb muscle weakness, Atrophy of the spinal cord, Abno... ORPHA:247245
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Camptodactyly, Flexion contracture of finger, Abnormal spinal cord morphology ORPHA:88628
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia OMIM:313850
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Hydrocephalus OMIM:616482
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Occipital meningocele, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly OMIM:616546
H Syndrome
Hypogonadism, Azoospermia, Amenorrhea, Hydrocephalus, Camptodactyly ORPHA:168569
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Limb Body Wall Complex
Myelomeningocele, Diastasis recti, Congenital diaphragmatic hernia, Encephalocele, Abnormal spina... ORPHA:2369
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Camptodactyly, Flexion contracture, Hydrocephalus OMIM:207410
Mucopolysaccharidosis, Type Vii
Macroglossia, Flexion contracture, Diastasis recti, Hydrocephalus OMIM:253220
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Hydrocephalus, Myopathy ORPHA:157
Icf Syndrome
Macroglossia, Communicating hydrocephalus ORPHA:2268
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Muscular dystrophy, Congenital contracture, Occipital encephalocele, Hydrocepha... OMIM:236670
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua... OMIM:137920
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1812
Lhermitte-Duclos Disease
Macroglossia, Hydrocephalus ORPHA:65285
Medulloblastoma
Hydrocephalus, Spinal cord tumor ORPHA:616
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Mirage Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism OMIM:617053
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Hydrocephalus, Left ventricular hypertrophy, Congenital diaphragmatic ... OMIM:245600
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
Holoprosencephaly
Spinal dysraphism, Encephalocele, Congenital diaphragmatic hernia, Hydrocephalus, Holoprosencepha... ORPHA:2162
Desmosterolosis
Ventriculomegaly, Joint contracture of the hand, Arthrogryposis multiplex congenita, Hydrocephalus OMIM:602398
Achondroplasia
Hydrocephalus ORPHA:15
Full Nf2-Related Schwannomatosis
Myelopathy, Foot dorsiflexor weakness, Hydrocephalus, Facial palsy, Spinal cord tumor, Wrist drop ORPHA:637
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Embryonal rhabdomyosarcoma, Hydrocephalus, Dandy-Walker malformation OMIM:257300
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Hurler Syndrome
Macroglossia, Flexion contracture, Hydrocephalus OMIM:607014
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus 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, Lateral ventricle dilatation, Torticollis, Normal pre... 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
Colpocephaly, Hydrocephalus, Chordee, Congenital diaphragmatic hernia OMIM:309801
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Hydrocephalus, Hypogonadism OMIM:101800
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the male genitalia ORPHA:228123
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Facial palsy, Limb hypertonia, Hydrocephalus OMIM:259720
Desmosterolosis
Ventriculomegaly, Hydrocephalus ORPHA:35107
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Cousin Syndrome
Joint contracture of the hand, Hydranencephaly, Wrist flexion contracture, Hydrocephalus, Camptod... OMIM:260660
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flexion contracture, Hydrocephalus OMIM:616007
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Mucopolysaccharidosis Type 1
Hydrocephalus, Abnormal tendon morphology ORPHA:579
Mucopolysaccharidosis, Type Vi