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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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...