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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
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
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 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
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 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 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
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, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
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
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Absent central microtubular pair morphology of res... OMIM:617091
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
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
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Abnormal central microtubular pair morphology of respiratory motile cilia, Ciliar... OMIM:612649
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile cilia, Immotile sperm, Absent inner dynein arms, Respiratory insuffici... OMIM:614874
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
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Immotile cilia, Immotile sperm, Absent respiratory ciliary axoneme radial spokes... OMIM:242670
Ciliary Dyskinesia, Primary, 12
Ciliary dyskinesia, Abnormal central microtubular pair morphology of respiratory motile cilia, Im... OMIM:612650
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Absent inner dynein arms, Infertility, Absent outer dynein arms, Ciliary dyskinesia OMIM:613193
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Immotile cilia, Reduced sperm motil... OMIM:615500
Ciliary Dyskinesia, Primary, 32
Infertility, Immotile cilia, Absent respiratory ciliary axoneme radial spokes, Ciliary dyskinesia OMIM:616481
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:215520
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Absent/shortened outer dynein arms, Abnormal respiratory motile cilium... OMIM:610852
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Immotile sperm, Infe... OMIM:613808
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Ciliary Dyskinesia, Primary, 40
Reduced respiratory ciliary beating frequency, Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology, Primary hypothyroidism OMIM:225050
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Male infertility, Absent inner and outer dynein arms OMIM:618801
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
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
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Female hypogonadism, Male hypogonadism, Decreased serum testosterone c... ORPHA:52901
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Absent outer dynein arms, Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:612518
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Dynein arm defect of respiratory mo... OMIM:615505
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Dyskinesia, Primary, 7
Abnormal axonemal organization of respiratory motile cilia, Abnormal ciliary motility, Ciliary dy... OMIM:611884
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Decreased testicular size, Abn... ORPHA:399805
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hydrocephalus, Hypergonadotropic hyp... ORPHA:2183
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Respiratory insufficiency due to defective ciliary clearance, Immotile cilia, Re... OMIM:615444
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Ciliary Dyskinesia, Primary, 17
Dynein arm defect of respiratory motile cilia, Ciliary dyskinesia OMIM:614679
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Immotile cilia, Absent inner and outer dynein arms, Respiratory insufficiency du... OMIM:614935
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:615938
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia OMIM:620032
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Coiled sperm flagella, Short sperm flagella, Male infertility, Ciliary dyskinesia OMIM:620197
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Absent outer dynein arms, Ciliary dyskinesia OMIM:614017
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Male infertility, Immotile cilia, Communicating hydrocephalus, Absent outer dyne... OMIM:244400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:615937
Deleted in azoospermia
Azoospermia OMIM:400003
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heteroto... OMIM:604213
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Ciliary Dyskinesia, Primary, 38
Infertility, Immotile cilia, Absent inner and outer dynein arms OMIM:618063
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus, Hypospadias ORPHA:141333
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Immotile cilia, Absent inner and outer dynein arms, Infertility, Ciliary dyskinesia OMIM:606763
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Hydrocephalus, Oligozoospermia, Increased se... ORPHA:8
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Decreased testicular size, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus OMIM:618709
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Absent outer dynei... OMIM:616037
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Polymicrogyria, Lateral ventricle dilatation, Bilateral cryptorchidism OMIM:300982
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Cryptorchidism ORPHA:250994
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Young Syndrome
Azoospermia OMIM:279000
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Lissencephaly, Simplified gyral pattern OMIM:614019
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Hydrocephalus, Cryptorchidism OMIM:601794
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Ciliary Dyskinesia, Primary, 46
Ciliary dyskinesia, Reduced sperm motility OMIM:619436
Distal 7Q11.23 Microduplication Syndrome
Frontal encephalocele, Hydrocephalus, Cryptorchidism ORPHA:261102
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Long penis, Hydrocephalus ORPHA:1672
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Lateral ventricle dilatation OMIM:619420
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hypoplastic female external genitalia, Cryptorchidism, Agenesis of corpus callo... OMIM:618577
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Congenital Hydrocephalus
Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus, Lissencephaly ORPHA:2185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
49,Xyyyy Syndrome
Ventriculomegaly, Abnormality of the testis size, Male hypogonadism, Decreased serum testosterone... ORPHA:99330
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, Simplified g... OMIM:619302
Masa Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
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
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Neonatal death OMIM:614870
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia ORPHA:352682
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Cryptorchidism OMIM:616816
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Lateral ventricle dilatation OMIM:615889
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Hydrocephalus, Simplified gyral pattern OMIM:619301
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus OMIM:210350
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... ORPHA:90797
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Type II diabetes melli... ORPHA:254516
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve... ORPHA:330015
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Azoospe... ORPHA:432
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypospadias OMIM:218350
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Ciliary dyskinesia... OMIM:608647
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Acalvaria
Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Fried Syndrome
Hydrocephalus ORPHA:85335
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Decreased fertility, Absent outer d... OMIM:615067
Lissencephaly 5
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic... OMIM:615191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Ventriculomegaly, Type II lissencephaly, Agenesis of corpus callosum, Hydrocephalu... OMIM:613153
Primary Ciliary Dyskinesia
Ventriculomegaly, Abnormal sperm motility, Female infertility, Nasal polyposis, Hydrocephalus, Ma... ORPHA:244
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Craniotelencephalic Dysplasia
Frontal encephalocele, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum ORPHA:1528
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... OMIM:602668
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Bresek Syndrome
Decreased testicular size, Hydrocephalus, Cryptorchidism, Neonatal death ORPHA:85284
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Cryptorchidi... OMIM:616222
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Hypospadias, Hydrocephalus, Cryptorchidism ORPHA:171839
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Cryptorchidism ORPHA:2701
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Lateral ventricle dilatation OMIM:618330
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Ventriculomegaly, Hydrocephalus, Cryptorch... OMIM:609757
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pachygyria, Hydrocephalus OMIM:618174
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypospadias OMIM:175700
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:304100
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Polymicrogyria ORPHA:83473
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Occipital encephalocele, Micropenis, Hydrocephalus OMIM:241800
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:602501
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism ORPHA:1237
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... OMIM:616034
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Adrenal medullary hypoplasia, Hydrocephalus OMIM:248000
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Walker-Warburg Syndrome
Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Cryptorchidism, Agen... ORPHA:899
Triploidy
Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Hypoplasia of penis, Holoprosenc... ORPHA:3376
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte... ORPHA:300573
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Ventriculomegaly, Hydrocephalus ORPHA:272
Cach Syndrome
Lateral ventricle dilatation, Gonadal dysgenesis, Dysgyria, Primary amenorrhea, Premature ovarian... ORPHA:135
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of penis, Holoprosencephal... ORPHA:77298
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Cryptorchidism, Hydrocephalu... ORPHA:1926
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hypogonadism, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism OMIM:300514
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Hydrocephalus,... ORPHA:168569
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
46,Xx Sex Reversal 1
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Azoospermia, True hermaphro... OMIM:400045
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation ORPHA:85290
Hydrolethalus
Cryptorchidism, Agenesis of corpus callosum, Abnormal fallopian tube morphology, Hydrocephalus, A... ORPHA:2189
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Polymicrogyria, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Genitopalatocardiac Syndrome
Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, male, Hydrocephalus, Hypospadias ORPHA:2075
Mirage Syndrome
Microphallus, Decreased testicular size, Adrenal insufficiency, Cryptorchidism, Hydrocephalus, Sh... OMIM:617053
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly ORPHA:93274
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hydrocephalus, Hypospa... OMIM:220210
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Hypogonadism, Cryptorchidism, Hydrocephalus, Micropenis ORPHA:500055
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Trisomy 1Q
Small scrotum, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Ambiguous genitalia... ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Hydrocephalus, Polymicrogyria OMIM:615181
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Emanuel Syndrome
Ventriculomegaly, Hypogonadism, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Micro... ORPHA:96170
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Alkuraya-Kucinskas Syndrome
Lissencephaly, Small scrotum, Ventriculomegaly, Hydrocephalus, Micropenis, Gray matter heterotopi... OMIM:617822
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Gray matter heterotop... OMIM:615219
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Dilated fourth ... ORPHA:370959
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hypospadias, Lateral ventricle dilatation, Polymicrogyria OMIM:617751
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis OMIM:614969
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... OMIM:207950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Coccidioidomycosis
Increased CSF protein concentration, Abnormality of the male genitalia, Hypoglycorrhachia, Abnorm... ORPHA:228123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Endocrine-Cerebroosteodysplasia
Small scrotum, Ventriculomegaly, Microphallus, Focal polymicrogyria, Cryptorchidism, Agenesis of ... OMIM:612651
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callosum, Hypothyroidi... ORPHA:1812
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosu... OMIM:619244
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria OMIM:618731
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation, Polymicrogyria OMIM:614219
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Simplified gyral pattern OMIM:617668
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Alexander Disease Type I
Hydrocephalus ORPHA:363717
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Thanatophoric Dysplasia
Gray matter heterotopia, Ventriculomegaly, Hydrocephalus ORPHA:2655
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Hydrocephalus, Cryptorchidism OMIM:601499
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Da... OMIM:225790
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia OMIM:614813
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus OMIM:620156
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Desmosterolosis
Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnorm... ORPHA:35107
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Cholelithiasis, Hydrocephalus OMIM:614886
3C Syndrome
Ventriculomegaly, Abnormality of neuronal migration, Adrenal hypoplasia, Hydrocephalus, Hypoplasi... ORPHA:7
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Increased CSF lactate, Abnormal C... ORPHA:79243
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Pseudotrisomy 13 Syndrome
Polymicrogyria, Cryptorchidism, Encephalocele, Agenesis of corpus callosum, Adrenal hypoplasia, H... OMIM:264480
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus, Abnormality of the uterus ORPHA:59315
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Agenesis of corpus callosum, Ovotestis, Colpocephaly, Chordee, Hydrocephalu... OMIM:309801
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... ORPHA:54595
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Micropenis, Dandy-Walker malformation OMIM:609029
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:616362
Lhermitte-Duclos Disease
Neoplasm of the thyroid gland, Hydrocephalus, Ovarian neoplasm, Polymicrogyria ORPHA:65285
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Neonatal death, Hydrocephalus, Uterine leiomyoma OMIM:616482
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Hydrocephalus, Perineal fistula ORPHA:3016
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Micropenis, Hydrocephalus, Cryptorchidism, Supernumerary nipple OMIM:619951
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Periventricular heterotopia, Hydrocephalus OMIM:619833
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Pachygyria, Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:603387
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Meckel Syndrome, Type 6
Occipital encephalocele, Absent gallbladder, Hydrocephalus, Abnormal internal genitalia, Anenceph... OMIM:612284
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Polymicrogyria, Streak ovary, Gray ma... OMIM:618820
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Cryptorchidism,... OMIM:236670
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Bifid scrotum, Cryptorchidism, Agenesis of corpus callosum, Ambiguous genitalia... OMIM:257300
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Walker malform... ORPHA:722
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Lissencephaly, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Partial agenesis of the c... OMIM:614643
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries, Hydrocephalus, Comm... ORPHA:2969
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Elevated circulating parathyroid hormone level, Elevated circulating thyr... OMIM:101800
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Neonatal... OMIM:610015
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Agenesis of corpus callosum, Hydrocephalus, Agyria, Lissencephaly OMIM:615249
Gracile Bone Dysplasia
Micropenis, Hydrocephalus OMIM:602361
Bloom Syndrome
Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility ORPHA:125
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Hydrocephalus, Cryptorchidism, Agenesis of corpus callosum ORPHA:3301
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Lissencephaly, Simplified gyral pattern ORPHA:284417
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Decreased testicular size, Anen... OMIM:615287
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:616355
Whipple Disease
Hypothyroidism, Erectile dysfunction, Hydrocephalus ORPHA:3452
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
B4Galt1-Cdg
Hypothyroidism, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Distal Triplication 15Q
Abnormal external genitalia, Hydrocele testis, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Prominent scrotal raphe, Hydrocephalus, Cryptorchidism ORPHA:1555
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Hydrocephalus ORPHA:2736
Lowry-Maclean Syndrome
Hypospadias, Hydrocephalus, Bilateral cryptorchidism ORPHA:2409
Pelvis-Shoulder Dysplasia
Hydranencephaly, Ambiguous genitalia, Hydrocephalus, Spina bifida ORPHA:2839
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... OMIM:618736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H... OMIM:613154
Desmosterolosis
Ventriculomegaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydrocephalus, Partial ... OMIM:602398
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Dandy-Walker mal... OMIM:611134
Fraser Syndrome 3
Small scrotum, Hypoplasia of penis, Hydrocephalus, Stillbirth OMIM:617667
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Spi... OMIM:618291
Meckel Syndrome, Type 3
Bile duct proliferation, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Cryptorchidism, Encephalocele, Ambiguous genitalia, Hydrocephalus, Adrenal hypoplasi... ORPHA:2166
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:1834
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly, Periventricular heterotopia, Cryptorchidism ORPHA:261250
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Polymicrogyria ORPHA:60040
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly ORPHA:1908
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Nephronophthisis 18
Hydrocephalus OMIM:615862
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Vaginal atresia, Hypoplastic labia majora, Fused labia minora, Hydrocephalus OMIM:207410
Trisomy 17P
Hypoplasia of penis, Hydrocephalus ORPHA:261290
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Frontal polymicrogyria OMIM:608629
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Micropenis, Lateral ventricle dilatation, Cryptorchidism OMIM:619847
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Type II diabetes m... ORPHA:91
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Cryptorchidism ORPHA:1865
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland, Ventriculomegaly, Hydrocephalus, Nasofrontal encephalocele OMIM:614195
Hemangioblastoma
Hydrocephalus ORPHA:252054
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Bifid scrotum, Prominent scrotal raphe, Agenesis of corpus callosum, Hypoplasti... OMIM:123790
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus, Neonatal death OMIM:187600
Crouzon Syndrome
Hydrocephalus ORPHA:207
Fg Syndrome Type 1
Small pituitary gland, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypospadias ORPHA:93932
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Ventriculomegaly, Hydrocephalus OMIM:614576
Dextrocardia
Abnormal reproductive system morphology, Pancreatic hypoplasia, Hydrocephalus ORPHA:1666
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Tetrasomy 9P
Lissencephaly, Polymicrogyria, Pachygyria, Absent gallbladder, Cryptorchidism, Hydrocephalus, Oli... ORPHA:3310
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Hydrocele testis, Hydrocephalus OMIM:613603
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Polymicrogyria, Occipital meningocele, Hydrocephalus, Micropenis, Anencephaly OMIM:616546
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hypoplastic male external genitalia, Hydrocephalus OMIM:608091
Craniosynostosis 6
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... OMIM:616602
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Neurooculorenal Syndrome
Ectopic posterior pituitary, Ventriculomegaly, Central hypothyroidism, Polymicrogyria, Decreased ... OMIM:620305
Combined Oxidative Phosphorylation Defect Type 39
Increased CSF lactate, Lateral ventricle dilatation, Cryptorchidism ORPHA:565624
Fanconi Anemia
Ventriculomegaly, Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Absent te... ORPHA:84
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Ventriculomegaly, Hydrocephalus OMIM:219730
Laurin-Sandrow Syndrome
Hydrocephalus, Cryptorchidism ORPHA:2378
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, Hydrocephalus,... OMIM:253800
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Periventricular heterotopia, Hydrocephalus, Gray matt... OMIM:619895
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ventricle dilata... OMIM:600721
Pentalogy Of Cantrell
Absent gallbladder, Encephalocele, Anencephaly, Hydrocephalus, Hypospadias ORPHA:1335
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Slc35A2-Cdg
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Lateral ventr... ORPHA:356961
Vacterl With Hydrocephalus
Cryptorchidism, Abnormal fallopian tube morphology, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Periventricular heterotopia, Agenesis of corpus callosum, Hydrocephalus, Dandy-... OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Agyria, Hydrocephalus, Polymicrogyria OMIM:616538
Joubert Syndrome With Renal Defect
Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Abnormality of the hyp... ORPHA:220497
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Ventriculomegaly, Hydrocephalus ORPHA:1860
Joubert Syndrome
Polymicrogyria, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Abnormality of t... ORPHA:475
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Gorlin Syndrome
Hypogonadotropic hypogonadism, Ovarian fibroma, Hydrocephalus, Cryptorchidism ORPHA:377
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Abnormal preputium morphology, Choroid plexus cyst, Lateral ventricle dila... ORPHA:293725
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:238769
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Encephalocele, Abnormality of the hypothalamus-pituitary axis,... ORPHA:2318
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Arachnoiditis
Hydrocephalus ORPHA:137817
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Increased CSF lactate, Hypothyroidism, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Cryptorchidism OMIM:130720
Meningioma
Decreased serum estradiol, Impotence, Secondary growth hormone deficiency, Hypothalamic hypothyro... ORPHA:2495
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Joubert Syndrome With Ocular Defect
Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Abnormality of the hyp... ORPHA:220493
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,... ORPHA:397715
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Apert Syndrome
Ventriculomegaly, Ovarian neoplasm, Hydrocephalus, Agenesis of corpus callosum ORPHA:87
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Pettigrew Syndrome
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:612582
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Thoracoabdominal Syndrome
Hypospadias, Hydrocephalus, Anencephaly OMIM:313850
Griscelli Syndrome