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Gene: Hoatz MGI:1921013

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
HOATZ cilia and flagella associated protein
Synonyms:
Hoatzin,  4833427G06Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hoatz 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 Hoatz by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
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 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
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 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
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 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
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 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
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 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
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
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Ciliary Dyskinesia, Primary, 34
Male infertility, Reduced respiratory ciliary beating frequency, Absent central microtubular pair... OMIM:617091
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
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Ciliary dyskinesia, Reduced sperm motility, Abnormal central microtubular pair mo... OMIM:612649
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Immotile cilia, Immotile sperm, Ciliary dyskinesia, Absent respiratory ciliary a... OMIM:242670
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Ciliary Dyskinesia, Primary, 6
Ciliary dyskinesia, Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morpho... OMIM:610852
Ciliary Dyskinesia, Primary, 12
Ciliary dyskinesia, Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair mo... OMIM:612650
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile cilia, Respiratory... OMIM:614874
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Immotile cilia, Infertility, Ciliary dyskinesia OMIM:613193
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Absent respiratory ciliary axoneme radial spokes, Infertility OMIM:616481
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Immotile cilia, Respiratory insufficiency due to defective ciliary clea... OMIM:615500
Ciliary Dyskinesia, Primary, 15
Nasal polyposis, Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotil... OMIM:613808
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology, Primary hypothyroidism OMIM:225050
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Ciliary Dyskinesia, Primary, 10
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:612518
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Ciliary Dyskinesia, Primary, 45
Male infertility, Immotile cilia, Absent inner and outer dynein arms OMIM:618801
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 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Ciliary Dyskinesia, Primary, 28
Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance, Dynein arm defe... OMIM:615505
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Ciliary Dyskinesia, Primary, 40
Reduced respiratory ciliary beating frequency, Absent outer dynein arms, Azoospermia, Infertility OMIM:618300
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms, Ciliary dyskinesia OMIM:612444
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Ciliary Dyskinesia, Primary, 17
Ciliary dyskinesia, Dynein arm defect of respiratory motile cilia OMIM:614679
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia OMIM:620032
Spermatogenic Failure 17
Male infertility OMIM:617214
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation, Polymicrogyria, Micropenis OMIM:300982
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias ORPHA:250994
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Ciliary dyskinesia, Abnormal ciliary motility OMIM:614017
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Absent inner and outer dynein arms, Immotile cilia, Respiratory insufficiency du... OMIM:615444
Ciliary Dyskinesia, Primary, 19
Male infertility, Nasal polyposis, Absent inner and outer dynein arms, Immotile cilia, Respirator... OMIM:614935
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hyp... ORPHA:2183
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Nasal polyposis, Coiled sperm flagella, Ciliary dyskinesia, Short sperm flagella OMIM:620197
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Male infertility, Nasal polyposis, Absent outer dynein arms, Immotil... OMIM:244400
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decreased testicular size... ORPHA:320391
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Abnormal response to gonad... ORPHA:649929
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Absent inner and outer dynein arms, Immotile cilia, Infertility, Ciliary dyskinesia OMIM:606763
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin ... ORPHA:8
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly OMIM:618709
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Hypogonadism, Delayed puberty ORPHA:141333
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
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
Ciliary Dyskinesia, Primary, 38
Immotile cilia, Infertility, Absent inner and outer dynein arms OMIM:618063
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Ciliary dyskinesia, Nasal polyposis, Respiratory insufficiency due to d... OMIM:616037
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hypoplastic female external genitalia... OMIM:618577
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Simplified gyral pattern, Lissencephaly OMIM:614019
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc... ORPHA:254516
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Hydrocephalus, Long penis ORPHA:1672
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Ciliary Dyskinesia, Primary, 46
Ciliary dyskinesia, Reduced sperm motility OMIM:619436
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Holoprosencephaly OMIM:300706
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypogonadotropic hypogonadism OMIM:619420
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly ORPHA:2185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Type II lissencephaly, Ventriculomegaly OMIM:614830
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Bresek Syndrome
Neonatal death, Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Simplified g... OMIM:619302
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Ambiguous genitalia ORPHA:1237
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly ORPHA:352682
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Temple Syndrome
Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Hydrocephalus, Decrease... OMIM:616222
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
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
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom... OMIM:609757
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation ORPHA:85290
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias, Micropenis ORPHA:171839
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus OMIM:210350
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Premature ovarian insufficiency OMIM:615889
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Ventriculomegaly ORPHA:324416
Kleeblattschaedel
Hydrocephalus OMIM:148800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of c... ORPHA:77298
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration ORPHA:945
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Fried Syndrome
Hydrocephalus ORPHA:85335
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter... ORPHA:1926
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... OMIM:615191
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Type II lissencephaly, Pachygyria, Hydrocephalus, Simplified gyral pattern, Lissencephaly, Dandy-... OMIM:613153
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... ORPHA:3376
Ciliary Dyskinesia, Primary, 5
Ciliary dyskinesia, Nasal polyposis, Respiratory insufficiency due to defective ciliary clearance... OMIM:608647
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Walker-Warburg Syndrome
Hypoplasia of penis, Abnormal cortical gyration, Pachygyria, Cryptorchidism, Hydrocephalus, Abnor... ORPHA:899
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology, Agenesis of corpu... ORPHA:2189
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Lissencephaly ORPHA:1528
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Male pseudohermaphroditism, Gonadal dysgenesis, male ORPHA:2075
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Primary Ciliary Dyskinesia
Male infertility, Nasal polyposis, Female infertility, Hydrocephalus, Abnormal sperm motility, Ve... ORPHA:244
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Lissencephaly, Dandy-Walker malformation OMIM:612938
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:1647
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms, Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary ... OMIM:615067
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:601499
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pachygyria OMIM:618174
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Hypospadias OMIM:618330
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Trisomy 1Q
Small scrotum, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Agenesis of corpus callosum, V... ORPHA:261344
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Simplified gyral pattern, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:619244
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:304100
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:602501
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Polymicrogyria ORPHA:83473
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Anterior hypopituitarism, Micropenis OMIM:241800
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Agenesis of corpus call... ORPHA:1812
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly OMIM:614969
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Type II lissencephaly, Ventriculomegaly ORPHA:272
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, A... OMIM:617053
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Cach Syndrome
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Gonadal dysgenesis, La... ORPHA:135
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Pseudotrisomy 13 Syndrome
Encephalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosence... OMIM:264480
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Vaginal atresia ORPHA:3301
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:613001
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Hydrocephalus, Supernumerary nipple, Micropenis OMIM:619951
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Focal polymicrogyria, Cryptorchidism, Hydrocephal... OMIM:612651
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Emanuel Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Micropenis, Dandy-Walker malformation, ... ORPHA:96170
Emanuel Syndrome
Cryptorchidism, Hydrocephalus, Micropenis, Dandy-Walker malformation, Ventriculomegaly OMIM:609029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Type II lissencephaly, Hy... OMIM:615287
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Micropenis, Ventriculomegaly OMIM:300514
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Gapo Syndrome
Amenorrhea, Hypogonadism, Dysmenorrhea, Oligozoospermia ORPHA:2067
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hydroceph... OMIM:220210
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Lateral ventricle dilatation, Micropenis OMIM:619847
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Polymicrogyria, Type II lissencephaly OMIM:615181
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
H Syndrome
Diabetes mellitus, Hydrocephalus, Azoospermia, Hypogonadism, Delayed puberty, Micropenis, Decreas... ORPHA:168569
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Alkuraya-Kucinskas Syndrome
Small scrotum, Hydrocephalus, Gray matter heterotopia, Lissencephaly, Micropenis, Dandy-Walker ma... OMIM:617822
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Agyria, Type II lissencephaly, Pachygyria, Cryptorchidism, Hydrocephalus... OMIM:236670
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Dandy... OMIM:257300
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypospadias ORPHA:2409
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe ORPHA:1555
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray mat... ORPHA:370959
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Distal Triplication 15Q
Hydrocele testis, Hydrocephalus, Abnormal external genitalia, Dandy-Walker malformation ORPHA:314588
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus ORPHA:1865
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... OMIM:615219
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation, Polymicrogyria, Hypospadias OMIM:617751
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Gray matter heterotopia, Agen... OMIM:207950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Colpocephaly, Ventriculomegaly, Periventricular heterotopia ORPHA:261250
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalu... ORPHA:2166
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Simplified gyral pattern OMIM:617668
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Desmosterolosis
Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, Macrogyria, Lissenc... ORPHA:35107
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Adams-Oliver Syndrome 2
Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation OMIM:614219
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria OMIM:618731
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Lateral ventricle dilatation, Increased CSF lactate ORPHA:565624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:2655
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Polymicro... OMIM:225790
Coccidioidomycosis
Abnormality of the endocrine system, Abnormality of the male genitalia, Hydrocephalus, CSF pleocy... ORPHA:228123
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology ORPHA:3412
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum, Uterus didelphys, Gray mat... OMIM:618820
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Increased CSF lactate, Lateral ventricle dilatation, Abn... ORPHA:79243
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
3C Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Hydrocephalus, Abnormality of neuronal migr... ORPHA:7
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Rhombencephalosynapsis
Hydrocephalus, Abnormality of the uterus, Ventriculomegaly ORPHA:59315
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... ORPHA:91350
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus, Elevated circulating thyroid-stimulating hormone concentration, Ir... OMIM:101800
Fg Syndrome Type 1
Hypospadias, Cryptorchidism, Hydrocephalus, Small pituitary gland, Ventriculomegaly ORPHA:93932
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Cholelithiasis, Hydrocephalus OMIM:614886
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:603387
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly, Periventricular heterotopia OMIM:619833
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Aqueductal stenosis, Cryptorch... OMIM:620305
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... OMIM:309801
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Uterine leiomyoma, Hydrocephalus, Irregular menstruation, Neonatal death OMIM:616482
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Cog5-Cdg
Cryptorchidism, Lateral ventricle dilatation, Micropenis ORPHA:263487
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Subcortical heterotopia, Agyria, Type II lissencephaly, Pachygyria, Hydrocephalus,... OMIM:614643
Meckel Syndrome, Type 6
Abnormal internal genitalia, Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anenceph... OMIM:612284
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele OMIM:130720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Lissencephaly, Agenesis of corpus callosum, Agyria, Type II lissencephaly OMIM:615249
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Neonatal... OMIM:610015
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Lissencephaly, Simplified gyral pattern ORPHA:284417
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Oeis Complex
Bifid uterus, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, female, Epispadias, Vesicovagin... OMIM:258040
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:250989
Gracile Bone Dysplasia
Hydrocephalus, Micropenis OMIM:602361
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Abnormality of the parathyroid gland, Hydrocepha... ORPHA:2969
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... ORPHA:54595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Di... OMIM:613154
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
B4Galt1-Cdg
Hydrocephalus, Hypothyroidism, Dandy-Walker malformation ORPHA:79332
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly, Labial hypopl... OMIM:147791
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:60040
Fraser Syndrome 3
Hydrocephalus, Hypoplasia of penis, Small scrotum, Stillbirth OMIM:617667
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Dandy-Walker mal... OMIM:611134
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:1834
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Abnormal co... OMIM:610829
Desmosterolosis
Hydrocephalus, Ambiguous genitalia, female, Partial agenesis of the corpus callosum, Ambiguous ge... OMIM:602398
Nephronophthisis 18
Hydrocephalus OMIM:615862
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Perisylvian polymicrogyria, Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accumul... OMIM:618291
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Bile duct proliferation, Dandy-Walker malformation OMIM:607361
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third... ORPHA:544488
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Whipple Disease
Hydrocephalus, Hypothyroidism, Erectile dysfunction ORPHA:3452
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Hemangioblastoma
Hydrocephalus ORPHA:252054
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Frontal polymicrogyria OMIM:608629
Trisomy 17P
Hydrocephalus, Hypoplasia of penis ORPHA:261290
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum OMIM:619517
Monosomy 18Q
Bilateral cryptorchidism, Hydrocephalus, Micropenis, Hypothyroidism, Secondary growth hormone def... ORPHA:1600
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora OMIM:207410
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Noonan Syndrome 14
Cryptorchidism, Lateral ventricle dilatation OMIM:619745
Meckel Syndrome
Encephalocele, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Hydro... ORPHA:564
Crouzon Syndrome
Hydrocephalus ORPHA:207
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Abnormal cortical gyration, Ventriculomegaly OMIM:614576
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Age... OMIM:123790
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Hydrocephalus OMIM:187600
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus, Pancreatic hypoplasia ORPHA:1666
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, Polymicrogyria, Ventriculomegaly OMIM:616546
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly OMIM:614195
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Opitz-Kaveggia Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter ... OMIM:305450
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Hydrocephalus, Oligozoospermia, Lissencephaly, Infertility, M... ORPHA:3310
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Partia... OMIM:619895
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosu... OMIM:618476
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Hypoplastic male external genitalia OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hydrocephalus, Lissencephaly, Holoprosencephaly, Pachygyria, Agenesis of c... OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly OMIM:616538
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:1860
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Lateral ventricle dilatation, Hypospadias OMIM:611209
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Cryptorchidism, Hydrocephalus, Epispadias, Cystocele, ... ORPHA:322
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus ... ORPHA:220497
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hypospadias, Hydrocephalus, Anencephaly ORPHA:1335
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Micropenis, Annular pancreas, Agen... OMIM:227646
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Joubert Syndrome
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Abnormality of the hypothalamus-... ORPHA:475
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Supernumerary nipple, Cryptorchidism, Colpocephaly, Chordee ORPHA:477993
Apert Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Vaginal atresia, Ventriculomegaly OMIM:101200
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Cryptorchidism, Hydrocephalu... ORPHA:2658
Slc35A2-Cdg
Precocious puberty, Lateral ventricle dilatation, Elevated circulating thyroid-stimulating hormon... ORPHA:356961
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Fanconi Anemia
Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydrocephalus, Azoosper... ORPHA:84
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cryptorchidism, Colpocephaly, Penile hypospadias, Hypospadias OMIM:620083
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Hydrocephalus, Micropenis ORPHA:163979
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus OMIM:182212
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Arachnoiditis
Hydrocephalus ORPHA:137817
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Hypopituitarism, Hypothyroidism ORPHA:90065
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Hypoplasia of the ovary, Decreased testicular size, Micropenis OMIM:619321
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Abnormality of neur... ORPHA:2318
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
7Q11.23 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Simplified gyral pattern, Aplasia/Hypoplasia of the f... ORPHA:96121
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst, Glandular hypospadias, Abnormal preputium morp... ORPHA:293725
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Cryptorchidism, Macrogyria, Colpocephaly, Hypoplastic nipples, Pachygyria, Agenesis ... OMIM:614866
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Ventriculome... ORPHA:2322
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Agen... OMIM:619512
Aymé-Gripp Syndrome
Cryptorchidism, Hydrocephalus, Breast hypoplasia, Ventriculomegaly ORPHA:1272
Gabriele-De Vries Syndrome
Cryptorchidism, Lateral ventricle dilatation OMIM:617557
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus ... ORPHA:220493
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasi... OMIM:249000
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly OMIM:617397
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly ORPHA:2462
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Ovarian neoplasm ORPHA:87
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Diabetes mellitus, Cryptorchidism, Hydrocephalus, Panhypopitu... ORPHA:2162
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dandy-Walker malformation, Hypospadias, Supernumerary nipple, Meningocel... ORPHA:397715
Weaver Syndrome
Hydrocele testis, Cryptorchidism, Lateral ventricle dilatation, Ventriculomegaly OMIM:277590
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1340
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Muenke Syndrome
Hydrocephalus ORPHA:53271
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Hypospadias OMIM:313850
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta ORPHA:2437
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormality of female external ge... ORPHA:235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Type II lissencephaly, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Ven... OMIM:613150
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker malformation, Ven... OMIM:605627
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly, Hypoplastic nipples, Neonatal death, Ambiguous gen... OMIM:269860
Tenorio Syndrome
Hydrocephalus, Hypoinsulinemia, Ventriculomegaly OMIM:616260
Oxoglutaric Aciduria
Hydrocephalus, Abnormal salivary gland morphology ORPHA:31
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Trisomy 8P
Cryptorchidism, Hydrocephalus, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Micropeni... ORPHA:264450
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Alexander Disease
Diabetes mellitus, Aqueductal stenosis, Precocious puberty, Hydrocephalus, Agenesis of corpus cal... ORPHA:58
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Aplasia of the vagina, Aplasia of the uterus, Agenesis of corpus callosum, Ventric... ORPHA:457284
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Bainbridge-Ropers Syndrome
Precocious puberty, Cryptorchidism, Lateral ventricle dilatation, Supernumerary nipple OMIM:615485
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus OMIM:314390
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... ORPHA:2495
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Colpocephaly, Hypothyroidism, Decreased response to growth hormone s... OMIM:609053
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Diabetes mellitus OMIM:619278
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Macrogyria, Pachygyria, Agenesis of corp... OMIM:602535
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Lateral ventricle dilatation, ... ORPHA:300570
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:102500
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus callosum, Polymi... ORPHA:228308
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Penoscrotal hypospadias, Septate vagina, Periventricul... OMIM:270400
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosu... OMIM:210710
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ... ORPHA:157
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Male pseudohermaphroditism, Ab... ORPHA:2556
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Azoospermia, Delayed puberty, Cholelithiasis, Ventriculomegaly ORPHA:2072
Fraser Syndrome 1
Encephalocele, Hypospadias, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Myelomenin... OMIM:219000
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ovarian cyst, Hyperparathyroidism, Ventriculomegaly OMIM:618188
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Stillbirth OMIM:208150
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Mosaic Trisomy 1
Lateral ventricle dilatation, Micropenis, Penile hypospadias, Agenesis of corpus callosum, Polymi... ORPHA:1692
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum, Rectovaginal fistula ORPHA:1780
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bi... ORPHA:363958
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Aicardi Syndrome
Spina bifida, Precocious puberty, Pachygyria, Partial agenesis of the corpus callosum, Choroid pl... OMIM:304050
Congenital Myopathy 22A, Classic
Neonatal death, Normal pressure hydrocephalus OMIM:620351
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261337
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Hypothyroidism, Decreased response to growth hormone stimu... ORPHA:1855
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Monosomy 9Q22.3
Hydrocephalus, Ovarian fibroma, Ventriculomegaly ORPHA:77301
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Myelomeningocele, Hypospadias ORPHA:90652
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
6Q Terminal Deletion Syndrome
Hypospadias, Phimosis, Periventricular heterotopia, Abnormality of neuronal migration, Gray matte... ORPHA:75857
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:221120
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Lateral ventricle dilatation, Small pituitary gland, Micropenis, Ventriculomegaly OMIM:619479
Achondroplasia
Hydrocephalus ORPHA:15
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Abnormality of the endocrine system, Hydrocephal... ORPHA:2356
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus ORPHA:1106
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Orofaciodigital Syndrome I
Abnormal cortical gyration, Pancreatic cysts, Hydrocephalus, Myelomeningocele, Ovarian cyst, Gray... OMIM:311200
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Abnormali... ORPHA:1454
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Fanconi Anemia, Complementation Group L
Hydrocephalus, Aplasia of the uterus, Micropenis OMIM:614083
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Hydrocephalus, Adrenal gland agenesi... OMIM:273395
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Cockayne Syndrome A
Cryptorchidism, Irregular menstruation, Normal pressure hydrocephalus, Hypogonadism, Thymic hormo... OMIM:216400
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum OMIM:617296
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Lateral ventricle dilatation, Male urethral meatus stenosis, Cholelithiasis, Dilated... ORPHA:464738
Genitopatellar Syndrome
Small scrotum, Enlarged labia minora, Periventricular heterotopia, Cryptorchidism, Agenesis of co... OMIM:606170
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620113
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Pachygyria, Agyria ORPHA:2148
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Stillbirth, Ventriculomegaly OMIM:259720
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Hydrocephalus, Abnormality of the endocrine system, Pheochrom... ORPHA:636
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Bifid uterus, Anencephaly, Gray matter heterotopia, Stil... OMIM:236680
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Hypothyroidism, Micropenis OMIM:619487
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Periventricular heterotopia, Cryptorchidism, Hydrocephalus, Hypopla... OMIM:612289
Basal Cell Nevus Syndrome 1
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida OMIM:109400
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Agenesis of corpus callosum ORPHA:2461
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Kabuki Syndrome 1
Premature thelarche, Cryptorchidism, Hydrocephalus, Congenital hypothyroidism, Lateral ventricle ... OMIM:147920
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,... OMIM:617260
Stromme Syndrome
Hydrocephalus, Stillbirth, Agenesis of corpus callosum OMIM:243605
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Lateral ventricle dilatation, Ambiguous genitalia, Micropenis, Pachygyria OMIM:263520
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Hydrocephalus, Decreased response to growth hormone stimulation test OMIM:616007
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Me... ORPHA:567
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Bicornuate uterus, Polymicrogyria OMIM:154400
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, External genital hypoplasia, Decrea... ORPHA:177907
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasia of the uterus, Agenesis o... OMIM:194190
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum, Polycystic ovaries ORPHA:137675
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
15Q Overgrowth Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:314585
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Panhypopituitar... OMIM:610828
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Micropenis, Pachygyria, Age... ORPHA:3472
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Hydrocephalus, Annular pancreas OMIM:618162
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:538
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Absent nipple OMIM:104350
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, R... OMIM:107480
Hurler Syndrome
Hydrocephalus OMIM:607014
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Congenital hypothyroidism, Hypoplasia of the uterus, ... ORPHA:709
Cockayne Syndrome B
Cryptorchidism, Micropenis, Normal pressure hydrocephalus OMIM:133540
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Abnormal external genitalia, Cryptorchidism, Hydrocephalus, Congenital hypothyroidis... OMIM:607872
Achondroplasia
Hydrocephalus OMIM:100800
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Raine Syndrome
Neonatal death, Hydrocephalus OMIM:259775
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Mohr Syndrome
Hydrocephalus OMIM:252100
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Mild fet... OMIM:619841
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Focal Dermal Hypoplasia
Supernumerary nipple, Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Hypop... OMIM:305600
Medulloblastoma
Hydrocephalus ORPHA:616
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Otopalatodigital Syndrome, Type Ii
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth OMIM:304120
Hajdu-Cheney Syndrome
Hydrocephalus, Hypospadias, Delayed puberty ORPHA:955
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum, Thyroid C cell hyperplasia OMIM:300952
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Pineal cyst, Lateral ventr... OMIM:615873
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Micropenis, Ventriculomegaly ORPHA:457359
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Hurler Syndrome
Hydrocephalus ORPHA:93473
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Hypoplasia of the thymus, Increased serum... OMIM:264090
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal OMIM:114290
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hydrocephalus, Hypop... OMIM:261540
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Hypospadias, Hydrocephalus, Delayed puberty, Micropenis, Decreased CSF 5-methyltet... OMIM:619475
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Hydrocephalus, Long penis, Frontal encephaloc... OMIM:268300
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta OMIM:300373
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid adenoma OMIM:162200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly OMIM:618460
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, Decreased response to growth hormone... ORPHA:3455
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Split Cord Malformation
Hypospadias, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Mening... ORPHA:573278
Coffin-Siris Syndrome 12
Hypothyroidism, Cryptorchidism, Hypospadias, Noncommunicating hydrocephalus OMIM:619325
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hydrocele testis, Cryptorchidism, Abnormal lateral ventricle morphology, Hypospadias ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hydrocele testis, Cryptorchidism, Abnormal lateral ventricle morphology, Hypospadias ORPHA:353277
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Baller-Gerold Syndrome
Hydrocephalus, Perineal fistula, Rectovaginal fistula, Spina bifida occulta, Agenesis of corpus c... OMIM:218600
Holoprosencephaly 13, X-Linked
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:301043
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Type II lissencephaly, Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:253280
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Pancreatic islet-cell hyperplas... OMIM:312870
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Limb Body Wall Complex
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta ORPHA:2369
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Gaucher Disease
Hydrocephalus, Ventriculomegaly, Delayed puberty ORPHA:355
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias OMIM:163950
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Decreased response to growth hormo... ORPHA:64
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Myelomeningocele OMIM:306955
Osteogenesis Imperfecta
Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly ORPHA:666
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Cystic Fibrosis
Male infertility, Nasal polyposis OMIM:219700
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Lateral ventricle dilatation OMIM:300896
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocep... ORPHA:805
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Primary hypothyroidism, Delayed puberty, Male hypogonadism OMIM:219800
Costello Syndrome
Hydrocephalus, Ventriculomegaly OMIM:218040
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Decreased serum leptin OMIM:614098
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Septate vagina, Periventricular heterotopia, Cryptorchidism, Hydrocel... ORPHA:261537
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, ... OMIM:619534
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Septate vagina, Periventricular heterotopia, Cryptorchidism, Hydrocel... ORPHA:261552
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum OMIM:164210

Histopathology

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

There is no histopathology data for Hoatz

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 Hoatz.

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

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
Hoatztm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hoatztm112747(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hoatztm112747(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hoatztm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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