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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, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Primary Ciliary Dyskinesia
Male infertility, Neonatal respiratory distress, Female infertility, Productive cough, Wheezing, ... 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
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
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 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
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
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Decreased nasal nitric oxide, Bronchiectasis, Coiled sperm flagella, Chronic co... OMIM:620197
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... OMIM:612444
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... OMIM:617091
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:616481
Ciliary Dyskinesia, Primary, 45
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhi... OMIM:618801
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Absent outer dynein arms, Bronchiectasis, Decreased nasal nitric o... OMIM:615500
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein ar... OMIM:614874
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ... OMIM:613193
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Abnormal central mic... OMIM:612649
Ciliary Dyskinesia, Primary, 14
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Rhinorrhea, Cough, Whe... OMIM:613807
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Ciliary Dyskinesia, Primary, 6
Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci... OMIM:610852
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis, Infertility OMIM:615872
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:612650
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Immotile spe... OMIM:242670
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Ab... OMIM:618063
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab... OMIM:618300
Ciliary Dyskinesia, Primary, 19
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, R... OMIM:614935
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Wheezing, Abnormal axonemal organization of respiratory motile cil... OMIM:613808
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Decreased nasal nit... OMIM:615505
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Bronchiectasis, Decreased nasal nitric oxide, Absent inner and out... OMIM:615444
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Chronic otitis media, Abnormal respiratory motile cilium morphology, Ciliary... OMIM:612518
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cil... OMIM:606763
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Productive cough, Chronic pulmonary obstruction, Recurrent pneumon... OMIM:615482
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ciliary Dyskinesia, Primary, 17
Dynein arm defect of respiratory motile cilia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent... OMIM:614679
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... OMIM:618449
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:615294
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, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Decreased nasal nitr... OMIM:616037
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator... OMIM:615504
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Familial Nasal Acilia
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
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
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Re... OMIM:300991
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Absent frontal sinuses, Absent outer dynein arms, Bronchiectasis, Im... OMIM:244400
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis,... OMIM:608644
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Chronic sinusitis OMIM:619607
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media, Ciliary dys... OMIM:616726
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Fragile X Syndrome
Mandibular prognathia, Sinusitis, Otitis media, Macroorchidism, Chronic otitis media ORPHA:908
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis OMIM:253240
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Gliosis, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media OMIM:312863
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Partial agenesis of the corpus callosum, Cerebellar gliosis, Incre... ORPHA:79243
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation OMIM:300982
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic otitis media, Chronic sinusitis, Decreased nasal nitric oxide, Reduced progressive sperm ... OMIM:619608
Ciliary Dyskinesia, Primary, 20
Productive cough, Absent outer dynein arms, Recurrent pneumonia, Bronchiectasis, Decreased fertil... OMIM:615067
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Cough ORPHA:163703
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:604213
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Basal ganglia gliosis, Respiratory insufficiency, Intercostal muscl... OMIM:607596
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Neonatal respiratory distress, Apnea, Respiratory failure, Gliosis... ORPHA:168486
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Lateral ventricle dilatation ORPHA:306669
Primary Ciliary Dyskinesia
Male infertility, Neonatal respiratory distress, Female infertility, Productive cough, Wheezing, ... ORPHA:244
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Asthma, Oligozoospermia, Azoospermia, Macroorchidi... ORPHA:8
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Otitis media OMIM:300455
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypogonadotropic hypogonadism OMIM:619420
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Premature ovarian insufficiency OMIM:615889
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Nephritis, Pyelonephritis, Oligozoospermia OMIM:314300
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Subependymal cysts, Lateral ventricle dilatation, Neonatal ... OMIM:610015
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Respiratory insufficiency OMIM:617668
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial upper respiratory tract infections, Asthma, Atopic dermatitis, Rhi... ORPHA:70593
Lissencephaly, X-Linked, 2
Wide anterior fontanel, Gliosis, Agenesis of corpus callosum, Decreased testicular size, Ventricu... OMIM:300215
Lig4 Syndrome
Psoriasiform dermatitis, Cryptorchidism, Asthma, Micropenis, Chronic sinusitis, Amenorrhea OMIM:606593
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Hemimegalencephaly
Gliosis, Ventriculomegaly ORPHA:99802
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... ORPHA:229717
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation, Gliosis OMIM:221770
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis OMIM:613502
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Gliosis OMIM:225753
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent upper respiratory tract infections, Re... ORPHA:277
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, A... ORPHA:1163
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Epididymitis, Pyoderma, Conjunctivitis, Recurrent ot... OMIM:307200
Scedosporiosis
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Pericarditis, Osteomyelitis, ... ORPHA:449280
Hemidystonia-Hemiatrophy Syndrome
Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology ORPHA:306741
Joubert Syndrome 3
Central apnea, Enlarged fossa interpeduncularis, Episodic tachypnea, Lateral ventricle dilatation... OMIM:608629
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Gliosis OMIM:213200
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato... ORPHA:397596
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Re... OMIM:618291
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Conjunctivitis, Recurrent pneumonia, Chronic sinusitis OMIM:612692
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Apnea, Inspiratory stridor OMIM:600721
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Astrocytosis, Gliosis, Increased CSF protein ... ORPHA:204
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media OMIM:618948
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Chronic sinusitis, Bronchiectasis OMIM:604571
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Ventriculomegaly, Increased CSF lactate, Gliosis, Basal ganglia gliosis, In... OMIM:604377
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Developmental And Epileptic Encephalopathy 14
Gliosis OMIM:614959
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
Cach Syndrome
Lateral ventricle dilatation, Premature ovarian insufficiency, Primary amenorrhea, Secondary amen... ORPHA:135
Lead Poisoning
Delayed eruption of teeth, Decreased female libido, Skin rash, Abnormality of the menstrual cycle... ORPHA:330015
L-2-Hydroxyglutaric Aciduria
Gliosis OMIM:236792
Pontocerebellar Hypoplasia, Type 13
Asthma, Lateral ventricle dilatation, Dandy-Walker malformation, Pleural effusion OMIM:618606
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Lateral ventricle dilatation, Gliosis, Respiratory failure OMIM:619847
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Immunodeficiency 102
Recurrent skin infections, Recurrent upper respiratory tract infections, Bronchiectasis, Recurren... OMIM:301082
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Respiratory insufficiency OMIM:201550
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation, Tracheobronchomalacia, Recurrent pneumonia OMIM:617751
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Primary amenorrhea, Gliosis, Secondary amenorrhea OMIM:603896
Leigh Syndrome
Respiratory insufficiency, Increased CSF lactate, Respiratory failure, Gliosis, Abnormal pattern ... OMIM:256000
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Yellow Nail Syndrome
Sinusitis, Dyspnea, Bronchiectasis, Rhinitis, Cough, Pulmonary arterial hypertension ORPHA:662
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Increased CSF protein concentration, Pneumonia OMIM:608033
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Apneic episodes in infancy, Dandy-Walker ... ORPHA:3078
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Central Precocious Puberty In Male
Hydrocephalus, Astrocytoma, Abnormality of the testis size, Optic nerve glioma ORPHA:649929
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Pneumonia, Allergic rhini... ORPHA:183675
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Choanal Atresia
Respiratory distress, Subglottic stenosis, Upper airway obstruction, Laryngomalacia, Tracheomalac... ORPHA:137914
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Lateral ventricle dilatation, Ple... OMIM:617397
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:250994
Cystic Fibrosis
Male infertility, Reduced forced expiratory volume in one second, Reduced forced vital capacity, ... OMIM:219700
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Recurrent pneumonia, Gliosis, Agenesis of corpus callosum, Ventriculomegaly OMIM:214150
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Gliosis, Ventriculomegaly OMIM:300957
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Recurrent pharyngitis, Recurrent pneumonia, Synovitis, Art... ORPHA:47612
Huntington Disease
Gliosis OMIM:143100
Kleeblattschaedel
Hydrocephalus OMIM:148800
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormal fallopian tube morphology, Nephritis, I... ORPHA:2552
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation ORPHA:85290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Ventriculomegaly OMIM:612936
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Recurrent pharyngitis, Myocarditis, Respiratory insufficiency... ORPHA:3099
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus OMIM:619302
Whim Syndrome
Pharyngitis, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recu... ORPHA:51636
Lacrimal Duct Defect
Sinusitis, Conjunctivitis OMIM:149700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Micrognathia, Bronchiectasis, Malar flattening OMIM:242860
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media OMIM:614379
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Cyclic Neutropenia
Pharyngitis, Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Enterocolitis, ... ORPHA:2686
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Immunodeficiency 32B
Pneumonia, Sinusitis, Bronchiectasis OMIM:226990
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:141333
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Microcephaly 10, Primary, Autosomal Recessive
Agenesis of corpus callosum, Gliosis OMIM:615095
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Bacterial Toxic-Shock Syndrome
Respiratory distress, Pharyngitis, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin... ORPHA:36234
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... ORPHA:331235
Pick Disease Of Brain
Gliosis OMIM:172700
Huntington Disease-Like 1
Gliosis, Ventriculomegaly ORPHA:157941
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Gliosis, Ventriculomegaly OMIM:618222
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation, Gliosis OMIM:607485
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Respiratory insufficiency, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis OMIM:221820
Fried Syndrome
Hydrocephalus ORPHA:85335
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Asthma, Respiratory... ORPHA:183
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis OMIM:604218
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral crypto... ORPHA:99429
Ataxia-Telangiectasia
Abnormal spermatogenesis, Sinusitis, Female hypogonadism, Bronchiectasis OMIM:208900
Immunodeficiency 15A
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... OMIM:618204
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dandy-Walker malformation, Chronic lung disease, Apnea, Tachypnea, Menin... ORPHA:397715
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Per... ORPHA:727
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Fusariosis
Fasciitis, Sinusitis, Myositis, Pneumonia, Maculopapular exanthema, Productive cough, Keratitis, ... ORPHA:228119
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Spinocerebellar Ataxia, Autosomal Recessive 27
Gliosis OMIM:618369
Generalized Glucocorticoid Resistance Syndrome
Acne, Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Fema... ORPHA:786
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Lateral ventricle dilatation, Increased CSF lactate ORPHA:565624
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Slc35A2-Cdg
Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Combined Oxidative Phosphorylation Deficiency 14
Basal ganglia gliosis, Gliosis, Ventriculomegaly, Increased CSF lactate OMIM:614946
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Spinocerebellar Ataxia 17
Gliosis OMIM:607136
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... ORPHA:572
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Skin rash, Pneumonia, Micrognathia, Chronic pu... ORPHA:125
Granulomatosis With Polyangiitis
Subglottic stenosis, Episcleritis, Sinusitis, Keratitis, Respiratory insufficiency, Uveitis, Conj... OMIM:608710
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:304100
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis OMIM:604484
Nijmegen Breakage Syndrome
Sinusitis, Premature ovarian insufficiency, Micrognathia, Malar prominence, Recurrent pneumonia, ... OMIM:251260
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis OMIM:105550
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Chronic pulmonary... ORPHA:900
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Dysplastic corpus callosum, Asthma, Lateral ventricle dilatation, Dilat... ORPHA:544488
Combined Oxidative Phosphorylation Deficiency 24
Agenesis of corpus callosum, Gliosis, Increased CSF lactate OMIM:616239
Wiskott-Aldrich Syndrome
Sinusitis, Epistaxis, Eczema, Abnormality of the menstrual cycle, Keratitis, Dyspnea, Chronic pul... ORPHA:906
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dandy-Walker malformation, Ventric... ORPHA:163961
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Gliosis OMIM:614498
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Familial Acute Necrotizing Encephalopathy
Gliosis, Increased CSF protein concentration, Abnormal pattern of respiration ORPHA:88619
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... ORPHA:1452
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Tubulointerstitial nephritis, Hypo... ORPHA:85450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Respiratory insufficiency, Dandy-Walker malformation, Agenesis of corpus callosum,... OMIM:613153
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Dysmenorrhea, Micrognathia, Oligozoospermia, Hy... ORPHA:2067
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Impotence, Gliosis, Autonomic erectile dysfunction OMIM:169500
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Good Syndrome
Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, Cough ORPHA:169105
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis, Decreased testicular size ORPHA:457240
Immunodeficiency 20
Recurrent otitis media, Wheezing, Recurrent viral upper respiratory tract infections, Recurrent s... OMIM:615707
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Normal pressure hydrocephalus, Lateral ventricle dilatation ORPHA:300570
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Lateral ventricle dilatation OMIM:611209
Chronic Granulomatous Disease
Sinusitis, Eczema, Chronic pulmonary obstruction, Otitis media, Inflammatory abnormality of the eye ORPHA:379
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Wide anterior fontanel, Lateral ventricle dilatation ORPHA:457279
Frontotemporal Dementia With Motor Neuron Disease
Gliosis ORPHA:275872
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Lateral ventricle dilatation ORPHA:2148
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Wide anterior fontanel, Gliosis, Neonatal death OMIM:231680
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Osteomyelitis, Allergic rhinitis, Eczema, Recurrent ski... ORPHA:443811
Kleefstra Syndrome Due To A Point Mutation
Tracheomalacia, Gliosis, Ventriculomegaly ORPHA:261652
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Mucopolysaccharidosis Type 6
Chronic otitis media, Sinusitis, Recurrent upper respiratory tract infections ORPHA:583
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Retractile testis, Respiratory insufficiency, Gliosis, Ventriculomegaly OMIM:617193
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Wide anterior fontanel, Cardiorespiratory arrest, Restrictive ventilatory defect, Respir... ORPHA:26791
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Eczema, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Cough, Inflammatory abn... ORPHA:238468
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Orchitis, Keratitis, Thyroiditis, Abnormality of the sphenoid sinus, Pros... ORPHA:449563
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Arthritis, Panniculitis, Conjunctivitis OMIM:617591
Distal Deletion 10Q
Lateral ventricle dilatation, Spina bifida occulta ORPHA:96148
Machado-Joseph Disease
Dilated fourth ventricle, Gliosis OMIM:109150
Coach Syndrome 2
Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum OMIM:619111
Cog5-Cdg
Cryptorchidism, Lateral ventricle dilatation ORPHA:263487
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Cystic Fibrosis
Sinusitis, Absent vas deferens, Reduced forced expiratory volume in one second, Asthma, Pneumotho... ORPHA:586
Noonan Syndrome 14
Cryptorchidism, Lateral ventricle dilatation OMIM:619745
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... ORPHA:420741
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Sinusitis, Pneumonia, Otitis media OMIM:613179
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Lateral ventricle dilatation, Pulmonary arterial hypertension, Dilated third... ORPHA:464738
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Zygomycosis
Fasciitis, Sinusitis, Pericarditis, Epistaxis, Gastritis, Pustule, Myocarditis, Peritonitis, Pneu... ORPHA:73263
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:619229
Weaver Syndrome
Hydrocele testis, Cryptorchidism, Lateral ventricle dilatation, Ventriculomegaly OMIM:277590
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum, ... OMIM:207950
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr... ORPHA:83471
Bainbridge-Ropers Syndrome
Cryptorchidism, Lateral ventricle dilatation OMIM:615485
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Chronic pulmonary obstruction, Recurrent pneumonia... OMIM:616576
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Asthma, Recurrent pneumoni... OMIM:102700
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis OMIM:256600
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Glioma OMIM:241800
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele, Respiratory insufficiency ORPHA:1914
Mucopolysaccharidosis Type 1
Chronic otitis media, Sinusitis, Apnea, Cough ORPHA:579
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation OMIM:619487
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Mosaic Trisomy 1
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:1692
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... OMIM:310400
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Bresek Syndrome
Neonatal death, Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Wide anterior fontanel, Hydrocephalus, Irregular menstruatio... OMIM:616482
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Micrognathia, Recurrent pneumonia, Bronchiectas... OMIM:618282
Thanatophoric Dysplasia
Hydrocephalus, Respiratory insufficiency, Ventriculomegaly ORPHA:2655
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Clitoral hypoplasia, Oligozoospermia OMIM:614813
Molybdenum Cofactor Deficiency, Complementation Group B
Neonatal death, Gliosis, Ventriculomegaly OMIM:252160
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Lateral ventricle dilatation, Hypogonadotropic hypogonadism ORPHA:177907
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gliosis, Ventriculomegaly OMIM:618321
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Lateral ventricle dilatation, Ventriculomegaly OMIM:619479
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A... ORPHA:1772
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic dermatitis, Recurrent sinusitis, C... ORPHA:217390
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Lymphocytic interstitial pneumonia, Osteomyelitis, Pe... ORPHA:2968
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Gliosis ORPHA:280210
Aicardi Syndrome
Spina bifida, Partial agenesis of the corpus callosum, Recurrent pneumonia, Choroid plexus cyst, ... OMIM:304050
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Edinburgh Malformation Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:1895
Temple Syndrome
Cryptorchidism, Hydrocephalus ORPHA:254516
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:93262
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Anoperineal fistula, Recurrent sinusitis, Perioral eczema OMIM:613960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... OMIM:607594
Igg4-Related Pachymeningitis
Sinusitis, Dyspnea, Lymphadenitis, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Gabriele-De Vries Syndrome
Cryptorchidism, Lateral ventricle dilatation OMIM:617557
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Hydrocephalus ORPHA:171839
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation, Gliosis, Respiratory failure OMIM:300868
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:609757
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Gliosis ORPHA:3240
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Prostatitis, Urinary bladder i... ORPHA:449395
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Leigh Syndrome
Increased CSF lactate, Respiratory failure, Gliosis, Agenesis of corpus callosum, Abnormal patter... ORPHA:506
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, Recurrent sinu... OMIM:615518
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Helsmoortel-Van Der Aa Syndrome
Cryptorchidism, Lateral ventricle dilatation, Gliosis, Ventriculomegaly OMIM:615873
Pontocerebellar Hypoplasia, Type 2A
Gliosis OMIM:277470
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Recurrent pneumonia, Upper airway obstruction, Respiratory insuffic... OMIM:614098
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation ORPHA:2822
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul... OMIM:225790
Crouzon Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:207
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Thanatophoric Dysplasia Type 1
Wide anterior fontanel, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly ORPHA:1860
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Tay-Sachs Disease
Gliosis, Ventriculomegaly, Aspiration pneumonia ORPHA:845
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Temple Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size OMIM:616222
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Respiratory insufficiency ORPHA:1237
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ve... ORPHA:370959
Coccidioidomycosis
Respiratory distress, Abnormal sperm morphology, Pericarditis, Osteomyelitis, Pneumonia, Skin ras... ORPHA:228123
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, Carious teeth ORPHA:811
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Emanuel Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Cough, Dandy-Walker malformation, Agene... ORPHA:96170
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency ORPHA:2119
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Respiratory insufficiency... OMIM:210710
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Ventriculomegaly OMIM:252150
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Decreased CSF albumin concentration, Decreased CSF biopterin level, Gliosis, Decreased CSF homova... ORPHA:404454
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Achondroplasia
Hypoxemia, Restrictive ventilatory defect, Hydrocephalus, Wide anterior fontanel ORPHA:15
Amoebiasis Due To Free-Living Amoebae
Pustule, Sinusitis, Infectious encephalitis, Pneumonia ORPHA:68
Keutel Syndrome
Sinusitis, Cartilaginous ossification of larynx, Recurrent otitis media, Malar flattening, Emphys... OMIM:245150
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Gliosis, Ventriculomegaly, Aspiration pneumonia OMIM:301072
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Asthma, Recurrent pneumonia, Bronchiectasis, ... OMIM:243700
Nephronophthisis 18
Hydrocephalus OMIM:615862
Progressive Supranuclear Palsy
Gliosis ORPHA:683
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Hydrocephalus, Neonatal death OMIM:187600
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
D-Bifunctional Protein Deficiency
Gliosis, Ventriculomegaly OMIM:261515
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Hemangioblastoma
Hydrocephalus ORPHA:252054
Joubert Syndrome 21
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea OMIM:615636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Hydrolethalus
Anencephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:2189
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Joubert Syndrome With Renal Defect
Encephalocele, Apnea, Hydrocephalus, Agenesis of corpus callosum, Abnormal pattern of respiration ORPHA:220497
Emanuel Syndrome
Cryptorchidism, Hydrocephalus, Recurrent sinusitis, Dandy-Walker malformation, Ventriculomegaly OMIM:609029
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Asthma, Hydrocephalus, Hypogonadism, Dilated third ventricle, Ventriculomegaly ORPHA:500055
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Wheezing, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, Con... OMIM:300755
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Spondylocostal Dysostosis 4, Autosomal Recessive
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Hydrocephalus, Mye... OMIM:613686
Triploidy
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Mannosidosis, Alpha B, Lysosomal
Gliosis OMIM:248500
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus, Wide anterior fontanel ORPHA:3309
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Apnea, Ventriculomegaly OMIM:614969
Joubert Syndrome
Encephalocele, Apnea, Episodic tachypnea, Hydrocephalus, Abnormal pattern of respiration ORPHA:475
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Halperin-Birk Syndrome
Colpocephaly, Aspiration, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Tenorio Syndrome
Hydrocephalus, Recurrent pneumonia, Apnea, Ventriculomegaly OMIM:616260
Encephalocraniocutaneous Lipomatosis
Astrocytoma, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:613001
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Decreased CSF albumin concentration, Gliosis, Decreased CSF 5-hydroxyindola... OMIM:615273
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism ORPHA:1926
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation OMIM:263520
Trisomy 1Q
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:261344
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurrent pneumonia, Bronchiectasis, Uve... OMIM:614700
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation, Astrocytosis, Gliosis, Tracheomalacia, Increased CSF protein concentration OMIM:203700
Alkuraya-Kucinskas Syndrome
Pleural effusion, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Hydrocephalus OMIM:614886
Joubert Syndrome With Ocular Defect
Encephalocele, Apnea, Hydrocephalus, Agenesis of corpus callosum, Abnormal pattern of respiration ORPHA:220493
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... OMIM:615207
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Tachypnea, Apnea ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Respiratory failure, Ventriculomegaly OMIM:616538
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Arachnoiditis
Hydrocephalus ORPHA:137817
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Walker-Warburg Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculo... ORPHA:899
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Fanconi Anemia, Complementation Group B
Hypogonadism, Hydrocephalus, Hypergonadotropic hypogonadism, Ventriculomegaly OMIM:300514
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Tetrasomy 9P
Myositis, Pericarditis, Abnormal dental enamel morphology, Micrognathia, Cryptorchidism, Oligozoo... ORPHA:3310
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Hydrocephalus, Upper airway obstruction OMIM:207410
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Whipple Disease
Erectile dysfunction, Hydrocephalus, Respiratory insufficiency, Cough ORPHA:3452
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial agenesis of the corpus c... OMIM:619895
Parkinson Disease 1, Autosomal Dominant
Gliosis OMIM:168601
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Respiratory insufficiency ORPHA:1865
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Chromosome 1P36 Deletion Syndrome, Distal
Wide anterior fontanel, Hydrocephalus, Cryptorchidism, Lateral ventricle dilatation, Agenesis of ... OMIM:607872
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Joubert Syndrome 2
Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Episodic tachypnea, Hydrocephalus... OMIM:608091
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Papillorenal Syndrome
Gliosis OMIM:120330
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Respiratory failure, Progressive ventri... ORPHA:500150
Muenke Syndrome
Hydrocephalus ORPHA:53271
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Respiratory distress, Tracheomalacia ORPHA:93259
Fg Syndrome Type 1
Pulmonary arterial hypertension, Hydrocephalus, Ventriculomegaly, Cryptorchidism ORPHA:93932
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus OMIM:314390
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Hydrocephalus OMIM:259710
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Pneumonia, Ventriculomegaly ORPHA:1855
Supernumerary Nostril
Abnormality of ethmoid sinus ORPHA:141096
Mucopolysaccharidosis, Type Ii
Asthma, Hydrocephalus, Recurrent pneumonia, Tracheobronchomalacia, Airway obstruction OMIM:309900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Agenesis of corpus ca... OMIM:253800
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Congenital Myopathy 22A, Classic
Neonatal death, Normal pressure hydrocephalus, Respiratory insufficiency OMIM:620351
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Kabuki Syndrome 1
Cryptorchidism, Hydrocephalus, Recurrent aspiration pneumonia, Lateral ventricle dilatation OMIM:147920
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Mirage Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Aspiration pneumonia, Decreased te... OMIM:617053
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cryptorchidism, Chordee, Gliosis, Ventriculomegaly ORPHA:268261
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Hydrocephalus ORPHA:2409
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Respiratory insufficiency, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:617260
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus OMIM:601499
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Colpocephaly, Ventriculomegaly ORPHA:261250
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism, Hydrocephalus ORPHA:1555
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Hydrocephalus OMIM:620155
Hereditary Late-Onset Parkinson Disease
Gliosis ORPHA:411602
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal dental pulp morphology, Abnormality of the sphenoid sinus, Sinusitis, Micrognathia ORPHA:363700
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum OMIM:264480
Contractures-Developmental Delay-Pierre Robin Syndrome
Hypospadias, Abnormality of frontal sinus, Micrognathia ORPHA:436003
Apert Syndrome
Respiratory insufficiency, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:87
Gabriele-De Vries Syndrome
Cryptorchidism, Agenesis of corpus callosum, Gliosis, Ventriculomegaly ORPHA:506358
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Hydrocephalus OMIM:619951
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Abnormal zygomatic bone morphology, Abnormal ... ORPHA:249
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:620113
H Syndrome
Hydrocephalus, Bronchiectasis, Azoospermia, Hypogonadism, Chronic rhinitis, Decreased testicular ... ORPHA:168569
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Apnea, Ventriculomegaly ORPHA:395
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Respiratory failure, Stillbirth, Ventriculomegaly OMIM:259720
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Adams-Oliver Syndrome
Encephalocele, Pulmonary arterial hypertension, Hydrocephalus ORPHA:974
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2075
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Asthma, Lateral ventricle dilatation, Neonatal death, Pulmona... OMIM:619534
Trisomy 17P
Hydrocephalus ORPHA:261290
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus, Dandy-Wa... OMIM:614643
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Prostatitis ORPHA:1546
Distal Triplication 15Q
Hydrocele testis, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculo... OMIM:257300
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:612651
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Pneumothorax, Gliosis OMIM:617403
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Cerebrotendinous Xanthomatosis
Myelopathy, Gliosis ORPHA:909
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration ORPHA:1454
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology OMIM:207731
Desmosterolosis
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:35107
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:228308
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Respiratory insufficiency, Holoprosencephaly, Neonatal death OMIM:269860
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation OMIM:300896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Dandy-Walker malfor... OMIM:236670
Monosomy 18Q
Bilateral cryptorchidism, Hydrocephalus, Astrocytoma ORPHA:1600
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Dubowitz Syndrome
Wide anterior fontanel, Asthma, Hydrocephalus, Cryptorchidism, Respiratory insufficiency, Spina b... ORPHA:235
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele OMIM:130720
Achondroplasia
Respiratory distress, Hydrocephalus, Upper airway obstruction OMIM:100800
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Hydrocephalus, Agenesis of corpus callosum ORPHA:157
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Stridor, Agenesis of corpus callo... OMIM:602535
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly ORPHA:2356
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Wide anterior fontanel, Colpocephaly, Agenesis of corpus callosum, Cryptorchidism OMIM:614866
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker ma... OMIM:615287
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Shprintzen-Goldberg Craniosynostosis Syndrome
Wide anterior fontanel, Hydrocephalus, Cryptorchidism OMIM:182212
Opitz-Kaveggia Syndrome
Wide anterior fontanel, Partial agenesis of the corpus callosum, Hydrocephalus, Cryptorchidism OMIM:305450
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Acrodysostosis 1 With Or Without Hormone Resistance
Hypogonadism, Cryptorchidism, Hydrocephalus, Irregular menstruation OMIM:101800
15Q Overgrowth Syndrome
Pulmonary arterial hypertension, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malform... ORPHA:314585
Stromme Syndrome
Hydrocephalus, Stillbirth, Agenesis of corpus callosum OMIM:243605
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Partial agenesis of the corpus callosum, Tachypnea, Gliosis, Increased CSF lactate OMIM:220111
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Crouzon Syndrome
Hydrocephalus OMIM:123500
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Respiratory insufficiency ORPHA:58
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Pituitary Deficiency Due To Rathke Cleft Cysts
Abnormality of the sphenoid sinus, Hypogonadotropic hypogonadism ORPHA:91350
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Neonatal death, Gliosis OMIM:124000
Cockayne Syndrome
Cryptorchidism, Gliosis ORPHA:191
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Airway obstruction OMIM:253220
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Osteootohepatoenteric Syndrome
Asthma, Hydrocephalus OMIM:619377
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Chordee, Agenesis of corpus callosum, Colpocephaly OMIM:309801
Spondyloepimetaphyseal Dysplasia, Krakow Type
Asthma, Hydrocephalus, Allergic rhinitis OMIM:618162
Nelson Syndrome
Abnormality of the sphenoid sinus, Testicular neoplasm ORPHA:199244
Vacterl With Hydrocephalus
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:3412
Desmosterolosis
Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:602398
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Lymphangioleiomyomatosis
Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect, Chylothorax, Cough, Emphysema ORPHA:538
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Diets-Jongmans Syndrome
Cryptorchidism, Gliosis OMIM:618846
Supranuclear Palsy, Progressive, 1
Gliosis, Astrocytosis OMIM:601104
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Hydrocephalus, Stridor, Pulmonary arterial hypertension, Airway obstruction ORPHA:505248
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficiency, Restrict... ORPHA:536467
Fraser Syndrome 3
Hydrocephalus, Stillbirth OMIM:617667
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:616546
Holoprosencephaly
Encephalocele, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Spinal dysraphism, Holop... ORPHA:2162
Full Nf2-Related Schwannomatosis
Astrocytoma, Glioma, Myelopathy, Hydrocephalus, Ependymoma ORPHA:637
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:250989
Neurofibromatosis, Type I
Astrocytoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Optic nerve glioma OMIM:162200
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Apert Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:101200
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Neurooculorenal Syndrome
Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Agen... OMIM:620305
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose... OMIM:610828
7Q11.23 Microduplication Syndrome
Tracheomalacia, Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:96121
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Agen... OMIM:619512
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly, Chordee, Holoprosencephal... OMIM:618820
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Ventriculomegaly OMIM:618188
Mend Syndrome
Wide anterior fontanel, Hydrocephalus, Dandy-Walker malformation, Cryptorchidism ORPHA:401973
Sturge-Weber Syndrome
Hydrocephalus, Pulmonary embolism ORPHA:3205
Mucopolysaccharidosis, Type Vi
Pneumonia, Hydrocephalus, Restrictive ventilatory defect, Cervical myelopathy, Pulmonary arterial... OMIM:253200
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Wide anterior fontanel,... OMIM:114290
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Apnea, Ventriculomegaly ORPHA:2462
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1340
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Hurler Syndrome
Hydrocephalus OMIM:607014
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Osteopathia Striata With Cranial Sclerosis
Apnea, Partial agenesis of the corpus callosum, Hydrocephalus, Tracheomalacia, Spina bifida occulta OMIM:300373
Raine Syndrome
Neonatal death, Hydrocephalus OMIM:259775
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:2166
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Supranuclear Palsy, Progressive, 2
Gliosis OMIM:609454
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Chordee, Agenesis of corpus callosum ORPHA:261537
Alström Syndrome
Respiratory distress, Abnormality of dental color, Hypoplasia of the Leydig cells, Otitis media, ... ORPHA:64
Hurler Syndrome
Hydrocephalus, Rhinitis ORPHA:93473
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media OMIM:601495
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Hydrocephalus, Apnea OMIM:261740
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus, Pulmonary embolism ORPHA:79282
Mucopolysaccharidosis Type 3
Hydrocephalus, Upper airway obstruction, Ventriculomegaly, Aspiration pneumonia ORPHA:581
Aymé-Gripp Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1272
Noonan Syndrome 1
Male infertility, Hypospadias, Micrognathia, Cryptorchidism, Dental malocclusion, Synovitis, Hypo... OMIM:163950
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Hydrocephalus, Epistaxis ORPHA:137667
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly OMIM:618460
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Myelomeningocele ORPHA:90652
Fanconi Anemia
Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Decreased fertility in males, Hypogonad... ORPHA:84
Jacobsen Syndrome
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:147791
Mohr Syndrome
Hydrocephalus OMIM:252100
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Chordee, Agenesis of corpus callosum ORPHA:261552
Histiocytoid Cardiomyopathy
Hydrocephalus, Tachypnea, Agenesis of corpus callosum, Cough ORPHA:137675
Craniopharyngioma
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:54595
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cryptorchidism, Colpocephaly OMIM:620083
Dextrocardia
Hydrocephalus ORPHA:1666
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hydrocephalus, Hypergonadotropic hypogonadism, Agenesis of corpus callosum OMIM:227646
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Holoprosencephaly 13, X-Linked
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:301043
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Hydrocephalus, Respiratory insufficiency ORPHA:163979
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Da... OMIM:249000
Costello Syndrome
Wide anterior fontanel, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Respiratory failu... OMIM:218040
Meningioma
Hypogonadotropic hypogonadism, Progressive pulmonary function impairment, Hydrocephalus, Abnormal... ORPHA:2495
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Medulloblastoma
Hydrocephalus ORPHA:616
Fontaine Progeroid Syndrome
Wide anterior fontanel, Hydrocephalus, Pneumothorax, Cryptorchidism, Respiratory insufficiency, N... OMIM:612289
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:457284
Koolen-De Vries Syndrome Due To A Point Mutation
Testicular neoplasm, Spina bifida, Cryptorchidism, Hydrocephalus, Tracheomalacia, Agenesis of cor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Testicular neoplasm, Spina bifida, Cryptorchidism, Hydrocephalus, Tracheomalacia, Agenesis of cor... ORPHA:363958
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, External genital hypoplasia, Abnormal paranasal sinus morpholo... ORPHA:141099
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Meckel Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ... ORPHA:564
Trisomy 8P
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:264450
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Colpocephaly, Chordee ORPHA:477993
Kabuki Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:2322
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Alobar Holoprosencephaly
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Agenesis of corpus callos... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Agenesis of corpus callos... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Agenesis of corpus callos... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Agenesis of corpus callos... ORPHA:220386
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Holoprosenc... OMIM:270400
22Q11.2 Deletion Syndrome
Spina bifida, Cryptorchidism, Asthma, Hydrocephalus, Chronic pulmonary obstruction, Meningocele, ... ORPHA:567
Lenz-Majewski Hyperostotic Dwarfism
Hypogonadism, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:2658
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure, Abnormal testis morphology, Ag... ORPHA:2556
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Hydrocephalus, Azoospermia, Pulmonary arterial hypertension, Ve... ORPHA:2072
Holoprosencephaly 9
Holoprosencephaly, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:610829
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele, Agenesis of corpus callosum OMIM:311200
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Hydrocephalus, Apnea, Chronic rhinitis ORPHA:667
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Otopalatodigital Syndrome, Type Ii
Spina bifida, Wide anterior fontanel, Hydrocephalus, Cryptorchidism, Respiratory insufficiency, R... OMIM:304120
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Respiratory distress OMIM:306955
Gaucher Disease
Pulmonary arterial hypertension, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly ORPHA:355
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus OMIM:102500
Marden-Walker Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:2461
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus OMIM:154400
Cockayne Syndrome A
Cryptorchidism, Irregular menstruation, Normal pressure hydrocephalus, Hypogonadism, Ventriculome... OMIM:216400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly OMIM:619475
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Pneumonia, Cryptorchidism, Asthma, Hydrocele testis, Aspir... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Pneumonia, Cryptorchidism, Asthma, Hydrocele testis, Aspir... ORPHA:353277
Tuberous Sclerosis Complex
Respiratory distress, Noncommunicating hydrocephalus, Subependymal giant-cell astrocytoma, Respir... ORPHA:805
Limb Body Wall Complex
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta ORPHA:2369
Osteogenesis Imperfecta
Neonatal respiratory distress, Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly ORPHA:666
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Stillbirth OMIM:208150
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Pneumonia ORPHA:309282
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261337
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Upper airway obstruction, Abnormal nasal mucus secretion ORPHA:580
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus ORPHA:1106
Neurofibromatosis Type 1
Cryptorchidism, Hydrocephalus, Astrocytoma ORPHA:636
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Epistaxis, Cryptorchidism, Asthma, Mild fetal ventriculomegaly, Chor... OMIM:619841
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Fraser Syndrome 1
Encephalocele, Cryptorchidism, Hydrocephalus, Myelomeningocele OMIM:219000
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Hydrocephalus, Agenesis of corpus callosum, Cryptorchidism ORPHA:3472
Baller-Gerold Syndrome
Wide anterior fontanel, Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum OMIM:218600
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:264090
Wolf-Hirschhorn Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:194190
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Oeis Complex
Cryptorchidism, Hydrocephalus, Myelomeningocele OMIM:258040
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:457359
Exstrophy-Epispadias Complex
Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction ORPHA:322
Cockayne Syndrome B
Cryptorchidism, Normal pressure hydrocephalus OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Focal Dermal Hypoplasia
Cryptorchidism, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum OMIM:305600
Peters-Plus Syndrome
Wide anterior fontanel, Hydrocephalus, Cryptorchidism, Agenesis of corpus callosum, Ventriculomegaly OMIM:261540
Split Cord Malformation
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele ORPHA:573278
Hydrolethalus Syndrome 1
Anencephaly, Stillbirth, Severe hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malforma... OMIM:236680
Peters Plus Syndrome
Cryptorchidism, Hydrocephalus, Spina bifida occulta, Ventriculomegaly ORPHA:709
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hypogonadotropic hypogonadism ORPHA:3455
Loeys-Dietz Syndrome 2
Hydrocephalus, Spontaneous pneumothorax OMIM:610168
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum OMIM:312870
Genitopatellar Syndrome
Cryptorchidism, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Coffin-Siris Syndrome 12
Cryptorchidism, Noncommunicating hydrocephalus OMIM:619325
Townes-Brocks Syndrome 1
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:107480
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele, Stillbirth OMIM:268300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum OMIM:164210

Histopathology

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

There is no histopathology data for 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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