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Gene: Spef2 MGI:2443727

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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:
sperm flagellar 2
Synonyms:
C230086A09Rik

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 Spef2 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.

The table below shows human diseases associated to Spef2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Primary Ciliary Dyskinesia
Chronic otitis media, Male infertility, Recurrent otitis media, Chronic rhinitis, Abnormal sperm ... ORPHA:244

The table below shows human diseases predicted to be associated to Spef2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Multiple non-erupting secondary teeth, R... OMIM:620277
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Ciliary dyskinesia, Recurrent sinusitis, Reduced sperm motility, Recurren... OMIM:619436
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Recurrent otitis media, Absent sperm axoneme central pair... OMIM:301101
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Ciliary dyskinesia, Recurrent sinusitis, Bronchiectasis, ... OMIM:620197
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Absent outer dynein arms, Male infertility, Recurrent otitis media, Pneumon... OMIM:612444
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Male infertility, Absent central microtubular pair... OMIM:617091
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Chronic rhinitis, Recurrent sinusitis, R... OMIM:620438
Ciliary Dyskinesia, Primary, 45
Male infertility, Chronic rhinitis, Bronchiectasis, Immotile cilia, Absent inner and outer dynein... OMIM:618801
Ciliary Dyskinesia, Primary, 13
Absent outer dynein arms, Recurrent otitis media, Ciliary dyskinesia, Infertility, Recurrent sinu... OMIM:613193
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Ciliary dyskinesia, Infertility, Chronic rhinitis, Recurrent sinusitis, I... OMIM:615481
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Recurrent... OMIM:615500
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Respiratory insufficiency due to defective ciliary cl... OMIM:614874
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Absent respiratory ciliary axoneme radial spokes, Ciliary dyskinesia, Inf... OMIM:616481
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Ciliary dyskinesia, Abnormal ciliary motility, Sinusitis, Rec... OMIM:610852
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Ciliary Dyskinesia, Primary, 11
Ciliary dyskinesia, Chronic rhinitis, Recurrent sinusitis, Reduced sperm motility, Immotile cilia... OMIM:612649
Ciliary Dyskinesia, Primary, 40
Reduced respiratory ciliary beating frequency, Absent outer dynein arms, Azoospermia, Infertility... OMIM:618300
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Absent outer dynein arms, Ciliary dyskinesia, Abnormal ciliary motility, Ch... OMIM:614017
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Dyskinesia, Primary, 19
Male infertility, Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis ... OMIM:614935
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Ciliary dyskinesia, Chronic rhinitis, Sinusitis... OMIM:242670
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Ciliary dyskinesia,... OMIM:613807
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Ciliary dyskinesia, Chronic rhinitis, Abnormal central microtubular pair mo... OMIM:612650
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Infertility, Bronchiectasis, Rhinitis, Immotile cilia, Absent inner and out... OMIM:618063
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys... OMIM:615444
Ciliary Dyskinesia, Primary, 10
Chronic otitis media, Ciliary dyskinesia, Recurrent sinusitis, Abnormal respiratory motile cilium... OMIM:612518
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Ciliary dyski... OMIM:611884
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys... OMIM:615505
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Ciliary dyski... OMIM:613808
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism OMIM:620103
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Infertility OMIM:615872
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Ciliary dyskinesia, Infertility, Chronic rhinitis, Recurrent sinusitis, R... OMIM:615482
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Ciliary Dyskinesia, Primary, 2
Ciliary dyskinesia, Infertility, Bronchiectasis, Sinusitis, Immotile cilia, Otitis media, Absent ... OMIM:606763
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Ciliary dyskinesia, Chronic rhinitis, Dynein arm defect of respiratory mo... OMIM:614679
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Infertility, Recurrent sinusitis, Bronchiectasis, Immotile sperm OMIM:618449
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Acne, Macroorchidism ORPHA:3000
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys... OMIM:608647
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys... OMIM:615451
Young Syndrome
Bronchiectasis, Azoospermia OMIM:279000
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys... OMIM:615504
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Absent outer dynein arms, Male infertility, Absent frontal sinuses, Ciliary... OMIM:244400
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Recurrent... OMIM:616037
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Azoospermia OMIM:615703
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Chronic sinusitis OMIM:619607
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiectasis OMIM:608644
Familial Nasal Acilia
Chronic rhinitis, Abnormal respiratory motile cilium morphology, Recurrent upper respiratory trac... ORPHA:922
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Male infertility, Recurrent sinusitis, Bronchiectasis OMIM:300991
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp... ORPHA:52901
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Ciliary dyskinesia, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis OMIM:616726
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure 28
Decreased testicular size, Male infertility, Non-obstructive azoospermia OMIM:618086
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased CSF lactate, Gliosis, Abnormal CSF pyruvate family amino acid concentration, Basal gang... ORPHA:79243
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Absent central microtubular pair morphology of respiratory motile cilia, ... OMIM:620032
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic otitis media, Chronic sinusitis, Reduced progressive sperm motility OMIM:619608
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia, Pyelonephritis, Nephritis OMIM:314300
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ... OMIM:620315
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Recurrent... OMIM:615067
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Infertility, Decreased testicular size, Hypogonadism, Primary amenorrhea OMIM:229070
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Lateral ventricle dilatation OMIM:615889
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Lateral ventricle dilatation OMIM:619420
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Pustular ras... OMIM:613953
Fragile X Syndrome
Chronic otitis media, Mandibular prognathia, Sinusitis, Otitis media, Macroorchidism ORPHA:908
47,Xyy Syndrome
Male infertility, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Malar flattening, Crypto... ORPHA:8
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media OMIM:312863
Hemochromatosis, Type 2A
Azoospermia, Arthritis, Infertility, Amenorrhea, Hypogonadotropic hypogonadism OMIM:602390
Hemidystonia-Hemiatrophy Syndrome
Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology ORPHA:306741
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Sinusitis, Rhinitis, Recurrent upper and lower respiratory tract infections, O... ORPHA:70593
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Febrile Infection-Related Epilepsy Syndrome
Sinusitis ORPHA:163703
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Lateral ventricle dilatation OMIM:607596
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation OMIM:613443
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Otitis media OMIM:300455
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Lateral ventricle dilatation OMIM:221770
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... ORPHA:320391
Hemimegalencephaly
Ventriculomegaly, Gliosis ORPHA:99802
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Primary Ciliary Dyskinesia
Chronic otitis media, Male infertility, Recurrent otitis media, Chronic rhinitis, Abnormal sperm ... ORPHA:244
Lissencephaly, X-Linked, 2
Ventriculomegaly, Gliosis, Wide anterior fontanel, Agenesis of corpus callosum OMIM:300215
Isolated Agammaglobulinemia
Pneumonia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otitis media, Re... ORPHA:229717
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media OMIM:618948
Congenital Neuronal Ceroid Lipofuscinosis
Ventriculomegaly, Abnormal astrocyte morphology, Agenesis of corpus callosum, Gliosis ORPHA:168486
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Gliosis OMIM:213200
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis OMIM:613502
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Prostatitis, Pyoderma, Recurrent otitis media, Enteroviral hepatitis, Sinusitis, Epidi... OMIM:307200
Adrenal Hypoplasia, Congenital
Azoospermia, Oligozoospermia, Precocious puberty, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:300200
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Sinusitis, Recurrent pneumonia, Inflammatory abnormality of the skin, Rec... ORPHA:277
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Subependymal cysts, Neonatal death, Lateral ventricle dila... OMIM:610015
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Arthritis, Bronchiectasis, Recurrent upper and lower respiratory tract in... ORPHA:397596
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:617092
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Agenesis of corpus callosum, Spina bifida occulta, Lateral ventricle d... OMIM:618736
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Bronchiectasis, Recurrent ... ORPHA:33110
48,Xyyy Syndrome
Azoospermia, Enamel hypoplasia, Acne, Male hypogonadism, Recurrent upper respiratory tract infect... ORPHA:99329
Polymicrogyria Due To Tubb2B Mutation
Agenesis of corpus callosum, Lateral ventricle dilatation ORPHA:300573
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Conjunctivitis OMIM:612692
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Lig4 Syndrome
Amenorrhea, Psoriasiform dermatitis, Cryptorchidism, Micropenis, Chronic sinusitis OMIM:606593
Developmental And Epileptic Encephalopathy 14
Gliosis OMIM:614959
Cach Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Lateral ventricle dilatation, Primary amen... ORPHA:135
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Macroorchidism, postpubertal, Infertility, Oligozoospermia, Impoten... ORPHA:91348
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid... OMIM:614837
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Leukoencephalopathy With Vanishing White Matter 1
Secondary amenorrhea, Gliosis, Premature ovarian insufficiency, Primary amenorrhea OMIM:603896
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... OMIM:228300
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:303350
Pontocerebellar Hypoplasia, Type 4
Gliosis OMIM:225753
Craniosynostosis 6
Dandy-Walker malformation, Agenesis of corpus callosum, Spina bifida occulta, Lateral ventricle d... OMIM:616602
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Immunodeficiency 102
Chronic rhinitis, Recurrent sinusitis, Recurrent upper respiratory tract infections, Bronchiectas... OMIM:301082
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ventricle dilata... OMIM:600721
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
X-Linked Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Recurrent pneumonia, Conjunctivitis, Recur... ORPHA:47
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Lead Poisoning
Decreased male libido, Delayed eruption of teeth, Skin rash, Infertility, Oligozoospermia, Reduce... ORPHA:330015
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Ventriculomegaly, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Lateral ven... OMIM:618291
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... ORPHA:90797
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:617751
Huntington Disease
Gliosis OMIM:143100
Kleeblattschaedel
Hydrocephalus OMIM:148800
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased testicular size, Hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:614897
Microsporidiosis
Sinusitis, Pharyngitis, Myocarditis, Cholangitis, Thyroiditis, Abnormal endometrium morphology, N... ORPHA:2552
Spastic Paraplegia 50, Autosomal Recessive
Ventriculomegaly, Gliosis OMIM:612936
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Increased CSF protein concentration, Gliosis ORPHA:204
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Cholangitis, Chronic gastritis, Skin rash, Arthritis, Atopic dermatitis, ... ORPHA:183675
Ciliary Dyskinesia, Primary, 43
Chronic sinusitis, Bronchiectasis, Chronic rhinitis, Recurrent upper respiratory tract infections OMIM:618699
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:619302
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Lateral ventricle dilatation OMIM:618606
Felty Syndrome
Chronic otitis media, Recurrent pharyngitis, Arthritis, Synovitis, Sinusitis, Pericarditis, Episc... ORPHA:47612
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Whim Syndrome
Severe periodontitis, Parotitis, Lymphadenitis, Bronchiectasis, Sinusitis, Pharyngitis, Recurrent... ORPHA:51636
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Bronchiectasis OMIM:604571
Biemond Syndrome Type 2
Hydrocephalus, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:141333
Intellectual Developmental Disorder, X-Linked 12
Ventriculomegaly, Gliosis OMIM:300957
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Dandy-Walker malformation, Lateral ventricle dilatation ORPHA:3078
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, Micrognathia, Malar flattening, Pneumonia OMIM:242860
Aspergillosis
Bronchiectasis, Sinusitis, Osteomyelitis, Keratitis, Pneumonia, Hepatitis, Infectious encephalitis ORPHA:1163
Scedosporiosis
Sinusitis, Pericarditis, Arthralgia/arthritis, Septic arthritis, Pneumonia, Endocarditis, Osteomy... ORPHA:449280
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Agenesis of corpus callosum OMIM:615095
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Gliosis, Lateral ventricle dilatation OMIM:619847
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Amenorrhea, Oligozoospermia, Hypogonadism ORPHA:91351
Cerebrooculofacioskeletal Syndrome 1
Ventriculomegaly, Gliosis, Agenesis of corpus callosum OMIM:214150
Cyclic Neutropenia
Perianal abscess, Periodontitis, Sinusitis, Pharyngitis, Tooth abscess, Enterocolitis, Otitis med... ORPHA:2686
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Lacrimal Duct Defect
Sinusitis, Conjunctivitis OMIM:149700
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Basal ganglia gliosis, Ventriculomegaly, Gliosis, Increased CSF lactate OMIM:604377
Pick Disease Of Brain
Gliosis OMIM:172700
Huntington Disease-Like 1
Ventriculomegaly, Gliosis ORPHA:157941
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Increased CSF protein concentration OMIM:608033
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis OMIM:226990
Generalized Glucocorticoid Resistance Syndrome
Infertility, Oligozoospermia, Female pseudohermaphroditism, Oligomenorrhea, Precocious puberty, A... ORPHA:786
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Selective Igm Deficiency
Crohn's disease, Recurrent vulvovaginal candidiasis, Pharyngitis, Recurrent sinusitis, Allergic r... ORPHA:331235
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis OMIM:221820
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis, Lateral ventricle dilatation OMIM:607485
Fried Syndrome
Hydrocephalus ORPHA:85335
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Ataxia-Telangiectasia
Sinusitis, Bronchiectasis, Abnormal spermatogenesis, Female hypogonadism OMIM:208900
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly, Occipital encephalocele ORPHA:324416
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis OMIM:604218
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Cystic Fibrosis
Male infertility, Pancreatitis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:219700
Rheumatic Fever
Myocarditis, Recurrent pharyngitis, Arthritis, Sinusitis, Pericarditis, Endocarditis ORPHA:3099
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Immunodeficiency 15A
Recurrent otitis media, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Cutaneous abscess... OMIM:618204
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Myotonic Dystrophy 2
Oligozoospermia, Hypogonadism OMIM:602668
Bacterial Toxic-Shock Syndrome
Myocarditis, Myositis, Arthritis, Skin rash, Hepatitis, Sinusitis, Pharyngitis, Septic arthritis,... ORPHA:36234
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Spinocerebellar Ataxia, Autosomal Recessive 27
Gliosis OMIM:618369
Slc35A2-Cdg
Dandy-Walker malformation, Lateral ventricle dilatation ORPHA:356961
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Leigh Syndrome
Increased CSF lactate, Gliosis OMIM:256000
Yellow Nail Syndrome
Sinusitis, Rhinitis, Bronchiectasis ORPHA:662
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:619244
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:617296
Gapo Syndrome
Delayed eruption of teeth, Mandibular prognathia, Oligozoospermia, Micrognathia, Dysmenorrhea, Hy... ORPHA:2067
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Spinocerebellar Ataxia 17
Gliosis OMIM:607136
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum OMIM:304100
Combined Oxidative Phosphorylation Deficiency 14
Basal ganglia gliosis, Ventriculomegaly, Gliosis, Increased CSF lactate OMIM:614946
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis OMIM:604484
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Acn... ORPHA:99429
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of ... ORPHA:432
Microscopic Polyangiitis
Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Peritonitis, Increased... ORPHA:727
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Nijmegen Breakage Syndrome
Premature ovarian insufficiency, Recurrent otitis media, Sinusitis, Micrognathia, Recurrent pneum... OMIM:251260
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis, Impotence, Autonomic erectile dysfunction OMIM:169500
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis OMIM:105550
Combined Oxidative Phosphorylation Deficiency 24
Increased CSF lactate, Gliosis, Agenesis of corpus callosum OMIM:616239
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis OMIM:614379
Ehlers-Danlos Syndrome, Classic Type, 2
Recurrent sinusitis OMIM:130010
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Sclerosing cholangitis, Skin rash, Chronic mucocutaneous candidiasis, Sinusit... ORPHA:572
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul... OMIM:616034
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation ORPHA:488627
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Combined Oxidative Phosphorylation Defect Type 39
Increased CSF lactate, Lateral ventricle dilatation ORPHA:565624
Bloom Syndrome
Retrognathia, Premature ovarian insufficiency, Male infertility, Cheilitis, Azoospermia, Skin ras... ORPHA:125
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Cleidocranial Dysplasia
Chronic otitis media, Supernumerary tooth, Delayed eruption of teeth, Abnormal dental enamel morp... ORPHA:1452
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Lateral ventricle dilatation ORPHA:300570
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Wide anterior fontanel, Lateral ventricle dilatation ORPHA:457279
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Myositis, Arthritis, Skin rash, Sinusitis, Endocarditis, Increased inflammatory resp... ORPHA:183
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele, Dandy-Walker malformation, Dilated third ventricle, Colpoce... ORPHA:397715
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Fusariosis
Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Bronchiectasis, Sinusitis, Keratitis,... ORPHA:228119
Frontotemporal Dementia With Motor Neuron Disease
Gliosis ORPHA:275872
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Cystic Fibrosis
Sinusitis, Absent vas deferens, Male infertility, Bronchiectasis ORPHA:586
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Testicular atrophy, Decreased testicular size, Small scrotum, Cryptorchidism, Microp... OMIM:308700
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation ORPHA:572798
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation OMIM:611209
Wiskott-Aldrich Syndrome
Chronic otitis media, Arthritis, Eczematoid dermatitis, Sinusitis, Inflammation of the large inte... ORPHA:906
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:618577
Distal Deletion 10Q
Spina bifida occulta, Lateral ventricle dilatation ORPHA:96148
Machado-Joseph Disease
Dilated fourth ventricle, Gliosis OMIM:109150
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum ORPHA:2182
Choanal Atresia
Laryngomalacia, Subglottic stenosis, Chronic sinusitis ORPHA:137914
Pgm3-Cdg
Chronic otitis media, Esophagitis, Atopic dermatitis, Eczematoid dermatitis, Chronic sinusitis, B... ORPHA:443811
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation ORPHA:544488
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Mucopolysaccharidosis Type 6
Chronic otitis media, Sinusitis, Recurrent upper respiratory tract infections ORPHA:583
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligomenorrhea, Primary ... ORPHA:79239
Kleefstra Syndrome Due To A Point Mutation
Ventriculomegaly, Gliosis ORPHA:261652
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis ORPHA:457240
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis OMIM:614498
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hydrocephalus, Gliosis, Dilated third ventricle, Colpocephaly, Lateral ventricle... OMIM:620371
Proteasome-Associated Autoinflammatory Syndrome 3
Panniculitis, Myositis, Arthritis, Skin rash, Sinusitis, Conjunctivitis OMIM:617591
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia OMIM:613494
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:613153
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation OMIM:619229
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Granulomatosis With Polyangiitis
Chronic otitis media, Prostatitis, Pancreatitis, Inflammatory abnormality of the eye, Skin rash, ... ORPHA:900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Igg4-Related Ophthalmic Disease
Prostatitis, Abnormality of the sphenoid sinus, Cholangitis, Pancreatitis, Thyroiditis, Sinusitis... ORPHA:449563
Familial Acute Necrotizing Encephalopathy
Gliosis, Increased CSF protein concentration ORPHA:88619
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Gliosis, Neonatal death OMIM:231680
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum OMIM:307000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Hypogonadism OMIM:601794
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Stillbirth, Hydrocephalus OMIM:276950
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Otitis media, Recurrent upper respiratory tract infections OMIM:613179
Chronic Granulomatous Disease
Sinusitis, Eczematoid dermatitis, Otitis media, Inflammatory abnormality of the eye ORPHA:379
Granulomatosis With Polyangiitis
Chronic otitis media, Subglottic stenosis, Episcleritis, Sinusitis, Keratitis, Conjunctivitis, Uv... OMIM:608710
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Oligozoospermia, Clitoral hypoplasia OMIM:614813
Basel-Vanagaite-Smirin-Yosef Syndrome
Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation ORPHA:464738
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Bainbridge-Ropers Syndrome
Lateral ventricle dilatation OMIM:615485
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Eczematoid dermatitis, Sinusitis, At... ORPHA:83471
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle OMIM:220220
Weaver Syndrome
Ventriculomegaly, Lateral ventricle dilatation OMIM:277590
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Sclerosing cholangitis, Arteritis, Thyroiditis, Lymphadenitis, Tubuloi... ORPHA:449395
L-2-Hydroxyglutaric Aciduria
Gliosis OMIM:236792
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation ORPHA:293725
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Hypohidrotic Ectodermal Dysplasia
Inflammatory abnormality of the eye, Eczematoid dermatitis, Sinusitis, Hypoplasia of the maxilla,... ORPHA:238468
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele, Glioma OMIM:241800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Ventriculomegaly, Gliosis OMIM:617193
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation OMIM:619487
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Mosaic Trisomy 1
Agenesis of corpus callosum, Lateral ventricle dilatation ORPHA:1692
Immunodeficiency 61
Recurrent sinusitis, Recurrent otitis media OMIM:300310
Immunodeficiency 20
Recurrent sinusitis, Recurrent otitis media, Recurrent viral upper respiratory tract infections OMIM:615707
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital sinus anomaly, Mic... ORPHA:1772
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:90791
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Molybdenum Cofactor Deficiency, Complementation Group B
Ventriculomegaly, Gliosis, Neonatal death OMIM:252160
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Atopic derma... OMIM:618282
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ventriculomegaly, Gliosis OMIM:618321
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:300952
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Zygomycosis
Myocarditis, Fasciitis, Pancreatitis, Gastritis, Acute infectious pneumonia, Hepatitis, Sinusitis... ORPHA:73263
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Chronic mucocutaneous candidiasis, Sinusitis, Recurrent pneumonia, Inflammatory abnorm... OMIM:102700
Good Syndrome
Sinusitis, Recurrent skin infections, Bronchiectasis ORPHA:169105
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Recurrent sinusitis, Colitis OMIM:613960
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Gliosis ORPHA:26791
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ventriculomegaly, Gliosis OMIM:618222
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:218350
Riddle Syndrome
Arthritis, Recurrent pneumonia, Recurrent sinusitis, Otitis media, Pneumonia, Chronic sinusitis ORPHA:420741
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis OMIM:256600
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:175700
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis, Conjunctivitis,... OMIM:607594
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Lateral ventricle dilatation ORPHA:177907
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum OMIM:207950
Mucopolysaccharidosis Type 1
Chronic otitis media, Sinusitis ORPHA:579
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Recurrent pneumonia, Atrophic gastritis, Bronchiectasis, Recurrent skin infe... OMIM:616576
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:616362
Leukocyte Adhesion Deficiency
Perianal abscess, Chronic oral candidiasis, Vaginitis, Severe periodontitis, Recurrent aphthous s... ORPHA:2968
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Aicardi Syndrome
Dandy-Walker malformation, Choroid plexus cyst, Dilated third ventricle, Spina bifida, Lateral ve... OMIM:304050
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Conjunctivitis, Bronchiectasis OMIM:240500
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Chronic sinusitis OMIM:620642
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul... OMIM:225790
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent otitis media, Conjunctivitis OMIM:613493
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620156
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:109120
Pontocerebellar Hypoplasia, Type 2A
Gliosis OMIM:277470
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation ORPHA:2822
Immunodeficiency 13
Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Recurrent upper respiratory tra... OMIM:615518
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Dilated fourth ventricle, Agenesis of corpus callosum, Ve... ORPHA:370959
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Communicating hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Helsmoortel-Van Der Aa Syndrome
Ventriculomegaly, Gliosis, Lateral ventricle dilatation OMIM:615873
Gabriele-De Vries Syndrome
Lateral ventricle dilatation OMIM:617557
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Gliosis, Lateral ventricle dilatation OMIM:300868
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Temple Syndrome
Hydrocephalus ORPHA:254516
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Ventriculomegaly, Lateral ventricle dilatation OMIM:619479
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:619833
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Decreased CSF protein concentration, Decreased CSF 5-hydroxyindolacetic acid concentration, Decre... ORPHA:404454
Bresek Syndrome
Hydrocephalus, Neonatal death ORPHA:85284
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Skin rash, Eczematoid dermatitis, Sinusitis, Carious teeth, Pneumonia,... ORPHA:811
Molybdenum Cofactor Deficiency, Complementation Group A
Ventriculomegaly, Gliosis OMIM:252150
Tay-Sachs Disease
Ventriculomegaly, Gliosis ORPHA:845
Leigh Syndrome
Increased CSF lactate, Gliosis, Agenesis of corpus callosum ORPHA:506
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism ORPHA:1908
Igg4-Related Pachymeningitis
Pancreatitis, Parotitis, Lymphadenitis, Sinusitis, Nephritis ORPHA:449427
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent bacterial skin infections, Atopic dermatitis, Recurrent sinusitis... ORPHA:217390
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media OMIM:300853
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Gliosis ORPHA:3240
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Nephronophthisis 18
Hydrocephalus OMIM:615862
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation OMIM:611134
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis ORPHA:280210
Immunodeficiency 109 With Lymphoproliferation
Bronchiectasis, Recurrent sinusitis OMIM:620282
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Immunodeficiency 110 With Lymphoproliferation
Recurrent aphthous stomatitis, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent ... OMIM:614868
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pustule, Pneumonia, Infectious encephalitis ORPHA:68
Emanuel Syndrome
Hydrocephalus, Dandy-Walker malformation, Infertility, Hypogonadism, Agenesis of corpus callosum,... ORPHA:96170
D-Bifunctional Protein Deficiency
Ventriculomegaly, Gliosis OMIM:261515
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation, Occipital encephalocele OMIM:607361
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Wide anterior fontanel, Neonatal death, Irregular menstruation OMIM:616482
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly, Wide anterior fontanel ORPHA:1860
Carney Complex
Paranasal sinus neoplasm, Testicular neoplasm, Ovarian dermoid cyst, Decreased fertility in males... ORPHA:1359
Hemangioblastoma
Hydrocephalus ORPHA:252054
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis, Recurrent upper respiratory tract infections OMIM:613101
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Progressive Supranuclear Palsy
Gliosis ORPHA:683
Immunodeficiency 14B, Autosomal Recessive
Recurrent sinusitis, Inflammation of the large intestine, Recurrent pneumonia, Colitis OMIM:619281
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Crouzon Syndrome
Hydrocephalus ORPHA:207
Temple Syndrome
Hydrocephalus OMIM:616222
Supernumerary Nostril
Abnormality of ethmoid sinus ORPHA:141096
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Hydrocephalus, Colpocephaly, Lateral ventricle dilatation, Agenesis of corpus callosu... OMIM:210710
Mannosidosis, Alpha B, Lysosomal
Gliosis OMIM:248500
Coccidioidomycosis
Morbilliform rash, Abnormality of the female genitalia, Pneumonia, Pancreatitis, Panniculitis, Ar... ORPHA:228123
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Emanuel Syndrome
Chronic oral candidiasis, Recurrent otitis media, Broad jaw, Micrognathia, Recurrent sinusitis, C... OMIM:609029
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ventriculomegaly, Gliosis OMIM:301072
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation OMIM:263520
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele OMIM:614195
Agammaglobulinemia, X-Linked
Prostatitis, Pyoderma, Recurrent otitis media, Enteroviral hepatitis, Bronchiectasis, Recurrent s... OMIM:300755
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Wide anterior fontanel OMIM:614886
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis OMIM:619707
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Arthritis, Recurrent sinusitis, Recurrent upper respiratory tract infecti... OMIM:615559
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormality of frontal sinus, Micrognathia, Hypospadias ORPHA:436003
Combined Oxidative Phosphorylation Deficiency 58
Gliosis OMIM:620451
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:238769
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly, Hypogonadism, Hypergonadotropic hypogonadism OMIM:300514
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620352
Immunodeficiency 56
Recurrent otitis media, Cholangitis, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Ch... OMIM:615207
Arachnoiditis
Hydrocephalus ORPHA:137817
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Immunodeficiency 70
Colitis, Recurrent sinusitis, Furuncle OMIM:618969
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Congenital Disorder Of Deglycosylation 1
Decreased CSF/serum albumin ratio, Gliosis, Decreased CSF 5-hydroxyindolacetic acid concentration... OMIM:615273
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Aqueductal stenosis OMIM:304340
Thanatophoric Dysplasia, Type I
Hydrocephalus, Neonatal death OMIM:187600
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Hydrolethalus
Hydrocephalus, Anencephaly, Agenesis of corpus callosum ORPHA:2189
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:612582
Triploidy
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:3376
Tetrasomy 9P
Amelogenesis imperfecta, Myositis, Abnormal dental enamel morphology, Arthritis, Infertility, Oli... ORPHA:3310
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Keutel Syndrome
Recurrent otitis media, Cartilaginous ossification of larynx, Sinusitis, Malar flattening, Chroni... OMIM:245150
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Sclerosing cholangitis, Atopic dermatitis, Eczematoid dermatitis, Eosinop... OMIM:243700
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology OMIM:207731
Achondroplasia
Hydrocephalus, Wide anterior fontanel ORPHA:15
Trisomy 1Q
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:261344
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Ventriculomegaly, Dilated third ventricle, Hypogonadism ORPHA:500055
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration OMIM:272200
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... OMIM:619895
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Thyroiditis, Colitis, Arthritis, Bronchiectasis, Inflammation ... OMIM:614700
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysplastic corpus callosum OMIM:617281
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum ORPHA:77298
Papillorenal Syndrome
Gliosis OMIM:120330
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:618476
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Encephalocele, Meningocele OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Astrocytoma, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:613001
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:459061
Parkinson Disease 1, Autosomal Dominant
Gliosis OMIM:168601
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Muenke Syndrome
Hydrocephalus ORPHA:53271
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Walker-Warburg Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:899
Tetrasomy 5P
Hydrocephalus, Wide anterior fontanel ORPHA:3309
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Increased CSF protein concentration, Gliosis OMIM:203700
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst OMIM:617866
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Agenesis of corpus callosum, Wide anterior fontanel, Lateral ventricle dilatation OMIM:607872
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618651
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Neonatal death OMIM:314390
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent viral upper respiratory tract infections, Recurrent pneumonia, ... OMIM:615577
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Progressive ventriculomegaly, Lateral ventricle dil... ORPHA:500150
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Pituitary Deficiency Due To Rathke Cleft Cysts
Abnormality of the sphenoid sinus, Hypogonadotropic hypogonadism ORPHA:91350
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ventriculomegaly, Gliosis, Chordee ORPHA:268261
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Inflammation of... ORPHA:98813
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:1812
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly OMIM:614969
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Fibrous Dysplasia Of Bone
Abnormality of the sphenoid sinus, Abnormal zygomatic bone morphology, Precocious puberty in fema... ORPHA:249
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele, Agenesis of corpus callosum ORPHA:220497
Poikiloderma With Neutropenia
Retrognathia, Recurrent otitis media, Skin rash, Carious teeth, Blepharitis, Recurrent sinusitis,... OMIM:604173
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Wide anterior fontanel OMIM:207410
Hereditary Late-Onset Parkinson Disease
Gliosis ORPHA:411602
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620113
Diphallia
Penoscrotal transposition, Epispadias, Bifid penis, Hypospadias, Ectopic scrotum, Abnormal sperma... ORPHA:227
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Trisomy 17P
Hydrocephalus ORPHA:261290
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Neonatal death OMIM:620351
Spondyloenchondrodysplasia
Ventriculomegaly, Abnormal lateral ventricle morphology ORPHA:1855
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele, Agenesis of corpus callosum ORPHA:220493
Whipple Disease
Hydrocephalus, Erectile dysfunction ORPHA:3452
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Ventriculomegaly, Gliosis, Chordee OMIM:620455
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Joubert Syndrome 21
Chronic sinusitis OMIM:615636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Partial agenesis of th... OMIM:614643
Cerebrotendinous Xanthomatosis
Gliosis, Myelopathy ORPHA:909
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly ORPHA:93932
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Abnormality of the sphenoid sinus, Abnormal dental pulp morphology ORPHA:363700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele, Agenesis of corpus callosum OMIM:253800
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly ORPHA:261250
Gabriele-De Vries Syndrome
Ventriculomegaly, Gliosis, Agenesis of corpus callosum ORPHA:506358
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele, Agenesis of corpus callosum OMIM:613150
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Desmosterolosis
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:35107
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Recurrent sinusitis OMIM:617765
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation OMIM:300896
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele, Agenesis of corpus callosum OMIM:264480
Mirage Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism OMIM:617053
Complement Factor I Deficiency
Recurrent otitis media, Recurrent sinusitis, Septic arthritis, Recurrent skin infections, Pyelone... OMIM:610984
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Aqueductal stenosis, Neonatal death, Lateral ventricle dilatation OMIM:619534
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:617260
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele ORPHA:1865
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:87
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:257300
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Keutel Syndrome
Recurrent sinusitis, Recurrent otitis media ORPHA:85202
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Stillbirth, Ventriculomegaly OMIM:259720
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:612651
Dural Sinus Malformation
Hydrocephalus, Myelopathy ORPHA:97339
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Crouzon Syndrome
Hydrocephalus OMIM:123500
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Prominent frontal sinuses, Persistence of primary teeth, Hypoplasia of the... OMIM:170390
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
H Syndrome
Hydrocephalus, Amenorrhea, Hypogonadism, Azoospermia ORPHA:168569
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Stromme Syndrome
Hydrocephalus, Stillbirth, Agenesis of corpus callosum OMIM:243605
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry OMIM:616914
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Gliosis, Neonatal death OMIM:124000
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif... ORPHA:63259
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Chordee, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:123790
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Desmosterolosis
Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum OMIM:602398
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Irregular menstruation, Hypogonadism OMIM:101800
Cockayne Syndrome
Gliosis ORPHA:191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Agenesis... OMIM:236670
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Monosomy 18Q
Hydrocephalus, Astrocytoma ORPHA:1600
Peroxisome Biogenesis Disorder 5A (Zellweger)
Wide anterior fontanel, Colpocephaly, Agenesis of corpus callosum OMIM:614866
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Anencephaly OMIM:612284
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele OMIM:130720
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Neonatal death, Holoprosencephaly, Anencephaly OMIM:269860
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida OMIM:613776
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Wide anterior fontanel OMIM:182212
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:613603
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Lymphadenitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis OMIM:618986
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Supranuclear Palsy, Progressive, 1
Astrocytosis, Gliosis OMIM:601104
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Opitz-Kaveggia Syndrome
Hydrocephalus, Wide anterior fontanel, Partial agenesis of the corpus callosum OMIM:305450
Ehlers-Danlos Syndrome, Classic Type, 1
Recurrent sinusitis, Osteoarthritis, Narrow maxilla OMIM:130000
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:228308
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Ventriculomegaly, Occipital meningocele, Anencephaly OMIM:616546
Fraser Syndrome 3
Hydrocephalus, Stillbirth OMIM:617667
Mpdu1-Cdg
Eczematoid dermatitis, Prominent frontal sinuses ORPHA:79323
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Increased CSF lactate, Gliosis, Partial agenesis of the corpus callosum OMIM:220111
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:314585
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Proboscis Lateralis
Abnormal ethmoid bone morphology, External genital hypoplasia, Abnormal facial skeleton morpholog... ORPHA:141099
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele ORPHA:1454
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Alexander Disease
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:58
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:605627
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Agenesis of corpus callosum ORPHA:157
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida, Astrocytoma, Optic nerve glioma OMIM:162200
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Full Nf2-Related Schwannomatosis
Hydrocephalus, Ependymoma, Glioma, Astrocytoma, Myelopathy ORPHA:637
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Hurler Syndrome
Hydrocephalus OMIM:607014
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Chordee, Holoprosencephaly, Colpocephaly, Agenesis of corpus callosum... OMIM:618820
Dubowitz Syndrome
Hydrocephalus, Wide anterior fontanel, Spina bifida occulta ORPHA:235
Raine Syndrome
Hydrocephalus, Neonatal death OMIM:259775
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd... OMIM:615287
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:101200
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis, Partial agenesis of the corpus callosum, Agenesis of corpus c... OMIM:619512
Supranuclear Palsy, Progressive, 2
Gliosis OMIM:609454
Neurooculorenal Syndrome
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Partial agenes... OMIM:620305
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:250989
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Recurrent pharyngitis, Recurrent pneumonia, Recurrent sinusitis, Recurren... ORPHA:293978
Achondroplasia
Hydrocephalus OMIM:100800
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Nelson Syndrome
Testicular neoplasm, Abnormality of the sphenoid sinus ORPHA:199244
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Craniopharyngioma
Hydrocephalus, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:54595
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Conjunctivitis, Bronchiectasis OMIM:601495
Congenital Syphilis
Hydrocephalus, CSF pleocytosis ORPHA:499009
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation, Cervicitis ORPHA:722
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of corpus callosum, Chordee, Lateral ventricle dilatation ORPHA:261537
Otopalatodigital Syndrome Type 2
Hydrocephalus, Encephalocele, Myelomeningocele ORPHA:90652
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Recurrent otitis media, Hypoplasia of the maxilla, Micrognathia, Recurrent sinusitis, Shawl scrotum OMIM:213980
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Colpocephaly OMIM:618460
Gorlin Syndrome
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Orofaciodigital Syndrome Ii
Hydrocephalus OMIM:252100
Holoprosencephaly
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Spinal dysraphism ORPHA:2162
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Wide anterior fontanel ORPHA:401973
Dextrocardia
Hydrocephalus ORPHA:1666
Medulloblastoma
Hydrocephalus ORPHA:616
Bone Marrow Failure Syndrome 6
Recurrent sinusitis OMIM:618849
Cousin Syndrome
Hydrocephalus, Hydranencephaly OMIM:260660
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:301043
7Q11.23 Microduplication Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:96121
Marshall-Smith Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:602535
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of corpus callosum, Chordee, Lateral ventricle dilatation ORPHA:261552
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Wide anterior fontanel, O... OMIM:610829
Hurler Syndrome
Hydrocephalus ORPHA:93473
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:457284
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Communicating hydrocephalus OMIM:618188
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Agenesis of corpus callosum, Hypergonadotropic hypogonadism OMIM:227646
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Fanconi Anemia
Azoospermia, Hydrocephalus, Decreased fertility in males, Spina bifida, Hypogonadism, Ventriculom... ORPHA:84
Thakker-Donnai Syndrome
Agenesis of corpus callosum, Communicating hydrocephalus ORPHA:1780
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Aymé-Gripp Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1272
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Metaphyseal Dysplasia, Braun-Tinschert Type
Advanced pneumatization of cranial sinuses ORPHA:85188
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2166
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Panniculitis, Parotitis, Episcleritis, Recurrent sinusitis, Epididymitis,... OMIM:256040
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta OMIM:300373
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly OMIM:147791
Alström Syndrome
Pancreatitis, Precocious puberty in females, Abnormality of dental color, Hypoplasia of the Leydi... ORPHA:64
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Dilated fourth ve... OMIM:249000
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Cervical myelopathy OMIM:253200
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly OMIM:620083
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Rheumatoid arthritis, Recurrent sinusitis, Pneumonia, Juvenile rheumatoid... OMIM:607944
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele, Agenesis of corpus callosum OMIM:311200
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Chordee, Colpocephaly ORPHA:477993
Alpha-Mannosidosis, Infantile Form
Pneumonia, Mandibular prognathia, Abnormality of the sphenoid sinus, Otitis media ORPHA:309282
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele ORPHA:1571
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:264450
Meningioma
Hydrocephalus, Amenorrhea, Hypogonadotropic hypogonadism, Impotence ORPHA:2495
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Spina bifida ORPHA:363958
Meckel Syndrome
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Lobar holoprosencephaly ORPHA:564
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Communicating hydrocephalus ORPHA:168577
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Hypogonadism, Agenesis of corpus callosum ORPHA:2658
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Dandy-Walker malformation, Colpocephaly, Holoprosencephaly, Partial agenesis of th... OMIM:270400
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2322
Campomelic Dysplasia
Hydrocephalus, Wide anterior fontanel, Spinal dysraphism, Spina bifida OMIM:114290
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Noonan Syndrome 1
Male infertility, Hypospadias, Synovitis, Micrognathia, Hypogonadism, Dental malocclusion, Crypto... OMIM:163950
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Marden-Walker Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:2461
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Ventriculomegaly, Decreased CSF 5-methyltetrahydrofolate concentration OMIM:619475
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis OMIM:154400
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Cockayne Syndrome A
Ventriculomegaly, Normal pressure hydrocephalus, Irregular menstruation, Hypogonadism OMIM:216400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Panniculitis, Arthritis, Skin rash, Eczematoid dermatitis, Hashimoto thyr... OMIM:615688
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Fontaine Progeroid Syndrome
Hydrocephalus, Wide anterior fontanel, Neonatal death OMIM:612289
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Limb Body Wall Complex
Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida ORPHA:2369
Costello Syndrome
Hydrocephalus, Ventriculomegaly, Wide anterior fontanel OMIM:218040
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Ventriculomegaly, Azoospermia ORPHA:2072
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus OMIM:617011
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Aqueductal stenosis, Myelomeningocele OMIM:306955
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
22Q11.2 Deletion Syndrome
Hydrocephalus, Meningocele, Spina bifida ORPHA:567
Osteogenesis Imperfecta
Hydrocephalus, Ventriculomegaly, Noncommunicating hydrocephalus ORPHA:666
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:2556
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Stillbirth OMIM:208150
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Neurofibromatosis Type 1
Hydrocephalus, Astrocytoma, Optic nerve glioma ORPHA:636
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Baller-Gerold Syndrome
Hydrocephalus, Wide anterior fontanel, Spina bifida occulta, Agenesis of corpus callosum OMIM:218600
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Hydrocephalus ORPHA:1106
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Hypoplasia of the ovary OMIM:619321
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect, Agenesis of corpus callosum ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect, Agenesis of corpus callosum ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect, Agenesis of corpus callosum ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect, Agenesis of corpus callosum ORPHA:220386
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Hypogonadism ORPHA:3042
Mucopolysaccharidosis Type 2
Otosclerosis, Communicating hydrocephalus ORPHA:580
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Stillbirth, Wide anterior fontanel, Spina bifida OMIM:304120
Fraser Syndrome 1
Hydrocephalus, Encephalocele, Myelomeningocele OMIM:219000
Chilton-Okur-Chung Neurodevelopmental Syndrome
Chordee, Mild fetal ventriculomegaly, Agenesis of corpus callosum, Communicating hydrocephalus OMIM:619841
Tuberous Sclerosis Complex
Subependymal nodules, Noncommunicating hydrocephalus, Subependymal giant-cell astrocytoma ORPHA:805
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology ORPHA:353277
Exstrophy-Epispadias Complex
Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction, Spina bifida ORPHA:322
Wolf-Hirschhorn Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:194190
Digeorge Syndrome
Recurrent otitis media, Seborrheic dermatitis, Micrognathia, Recurrent sinusitis, Ovarian cyst, R... OMIM:188400
Cockayne Syndrome B
Normal pressure hydrocephalus OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Hydrolethalus Syndrome 1
Stillbirth, Anencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Severe hydroceph... OMIM:236680
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:264090
Wiskott-Aldrich Syndrome
Recurrent otitis media, Eczematoid dermatitis, Inflammation of the large intestine, Recurrent sin... OMIM:301000
Focal Dermal Hypoplasia
Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum OMIM:305600
Yunis-Varon Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:3472
Peters-Plus Syndrome
Hydrocephalus, Ventriculomegaly, Wide anterior fontanel, Agenesis of corpus callosum OMIM:261540
Acrofacial Dysostosis, Cincinnati Type
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Aqueductal stenosis OMIM:616462
Oeis Complex
Hydrocephalus, Myelomeningocele OMIM:258040
Peters Plus Syndrome
Hydrocephalus, Ventriculomegaly, Spina bifida occulta ORPHA:709
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Hypogonadotropic hypogonadism, Agenesis of corpus callosum ORPHA:3455
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
17Q11 Microdeletion Syndrome
Precocious puberty, Abnormality of the sphenoid sinus ORPHA:97685
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus OMIM:619325
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Agenesis of corpus callosum OMIM:312870
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Stillbirth, Frontal encephalocele OMIM:268300
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly OMIM:107480
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Hydrocephalus, Occipital encephalocele, 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 Spef2

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 Spef2.

No publications found that use IMPC mice or data for Spef2.

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