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Gene: Spag6l MGI:1354388

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Gene Summary

Name:
sperm associated antigen 6-like
Synonyms:
Spag6,  PF16

Order Alleles

IMPC Data Collections

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.

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Spag6l mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Spag6l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
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, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
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 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
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
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
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 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
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 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
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 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
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 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
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation, Polymicrogyria, Micropenis OMIM:300982
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypogonadotropic hypogonadism, Microcephaly OMIM:619420
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Cryptorchidism, Simplified gyral pattern, Lateral ventricle dilatation, Dilated thi... OMIM:619244
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Premature ovarian insufficiency OMIM:615889
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
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
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation, Microcephaly ORPHA:85290
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Microcephaly, Cryptorchidism, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, V... ORPHA:500055
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias ORPHA:250994
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Cach Syndrome
Premature ovarian insufficiency, Microcephaly, T2 hypointense thalamus, Secondary amenorrhea, Pri... ORPHA:135
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma, Pr... ORPHA:649929
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Hypospadias OMIM:618330
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third... ORPHA:544488
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly, Microcephaly OMIM:618709
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Polymicrogyria Due To Tubb2B Mutation
Microcephaly, Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, ... ORPHA:300573
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cryptorchidism, Lateral ventricle dilatation, Primary microcephaly, Micropenis OMIM:619847
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... OMIM:614019
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hypospadias, Microcephaly, Lateral ventricle dilatation, Polymicrogyria OMIM:617751
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Primary microcephaly OMIM:618266
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hypoplastic female external genitalia... OMIM:618577
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Simplified gyral pattern, Microcephaly OMIM:617668
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Di... OMIM:613154
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... OMIM:615842
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Lateral ventricle dilatation, Microcephaly, Increased CSF lactate ORPHA:565624
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dandy-Walker malformation, Hypospadias, Meningocele, Colpocephaly, Later... ORPHA:397715
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... ORPHA:8
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Microcephaly, Lateral ventricle dilatation, Male urethral meatus stenosis, Dilated t... ORPHA:464738
Pyruvate Dehydrogenase E1-Alpha Deficiency
Microcephaly, Partial agenesis of the corpus callosum, Increased CSF lactate, Lateral ventricle d... ORPHA:79243
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Aicardi Syndrome
Spina bifida, Microcephaly, Precocious puberty, Pachygyria, Partial agenesis of the corpus callos... OMIM:304050
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Microcephaly OMIM:619725
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum OMIM:617296
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Temple Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulati... ORPHA:254516
Alg2-Cdg
Lateral ventricle dilatation, Microcephaly ORPHA:79326
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Microcephaly ORPHA:77299
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Lissencephaly, Simplified gyral pattern, Primary microcephaly ORPHA:284417
Cog5-Cdg
Cryptorchidism, Lateral ventricle dilatation, Microcephaly, Micropenis ORPHA:263487
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Microcephaly, Bilateral cryptorchidism, Epispadias, Partial agenesis of... ORPHA:434179
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Microcephaly, Simplified gyral pattern, Progressive microcephaly, Prima... OMIM:615574
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... OMIM:618736
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Microcephaly OMIM:607596
Adams-Oliver Syndrome 2
Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation, Microcephaly OMIM:614219
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Microcephaly OMIM:618890
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Microcephaly OMIM:619517
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
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
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Microcephaly, Cryptorchidism, Lateral ventricle dilatation, Progressive microcephaly OMIM:611209
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Craniosynostosis 6
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... OMIM:616602
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly OMIM:303350
Slc35A2-Cdg
Precocious puberty, Lateral ventricle dilatation, Dandy-Walker malformation, Microcephaly ORPHA:356961
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Noonan Syndrome 14
Cryptorchidism, Lateral ventricle dilatation OMIM:619745
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Microcephaly ORPHA:208447
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Microcephaly OMIM:615716
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom... OMIM:609757
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Frontal polymicrogyria OMIM:608629
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Perisylvian polymicrogyria, Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accumul... OMIM:618291
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern, Microcephaly OMIM:619470
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia, Microcephaly OMIM:614105
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal preputium morphology, Choroid plexus cyst, Glandular hypospadias, Lateral ventricle dila... ORPHA:293725
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Microcephaly OMIM:300884
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly ORPHA:2185
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Ambiguous genitalia ORPHA:1237
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size, Microcephaly ORPHA:85284
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias, Micropenis ORPHA:171839
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation OMIM:610015
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation, Microcephaly OMIM:618606
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Simplified g... OMIM:619302
Temple Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus, Decreased testicular size OMIM:616222
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Secondary microcephaly OMIM:617854
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation, Microcephaly ORPHA:3078
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Pseudo-Torch Syndrome 2
Microcephaly, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Ventriculome... OMIM:617397
Diabetic Embryopathy
Microcephaly, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology o... ORPHA:1926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Type II lissencephaly, Ventriculomegaly OMIM:614830
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Bainbridge-Ropers Syndrome
Precocious puberty, Cryptorchidism, Lateral ventricle dilatation, Microcephaly OMIM:615485
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Gabriele-De Vries Syndrome
Cryptorchidism, Lateral ventricle dilatation OMIM:617557
Weaver Syndrome
Hydrocele testis, Cryptorchidism, Lateral ventricle dilatation, Ventriculomegaly OMIM:277590
Walker-Warburg Syndrome
Hypoplasia of penis, Abnormal cortical gyration, Microcephaly, Pachygyria, Cryptorchidism, Hydroc... ORPHA:899
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of c... ORPHA:77298
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Microcephaly ORPHA:26
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Secondary microcephaly, Lissencephaly, Dandy-Walker malformation OMIM:612938
Pallister-Hall-Like Syndrome
Occipital encephalocele, Microcephaly, Hydrocephalus, Micropenis, Hypothalamic hamartoma, Anterio... OMIM:241800
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Genitopalatocardiac Syndrome
Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Male pseudohermaphroditism, Gonadal dys... ORPHA:2075
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly ORPHA:352682
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Lateral ventricle dilatation, ... ORPHA:300570
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Hydrocephalus, Abnormal sperm motility, Ventriculomegaly ORPHA:244
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... ORPHA:3376
Craniotelencephalic Dysplasia
Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Agenesis of corpus callosum ORPHA:1528
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology, Agenesis of corpu... ORPHA:2189
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Ventriculomegaly ORPHA:324416
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Mosaic Trisomy 1
Lateral ventricle dilatation, Micropenis, Penile hypospadias, Agenesis of corpus callosum, Polymi... ORPHA:1692
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:1647
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Type II lissencephaly, Pachygyria, Hydrocephalus, Simplified gyral pattern, Lissencephaly, Dandy-... OMIM:613153
Kleeblattschaedel
Hydrocephalus OMIM:148800
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Microcephaly, Micropenis OMIM:619487
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Fried Syndrome
Hydrocephalus ORPHA:85335
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pachygyria, Secondary microcephaly OMIM:618174
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Microcephaly OMIM:619278
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:601499
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration ORPHA:945
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... OMIM:615191
2,4-Dienoyl-Coa Reductase Deficiency
Microcephaly, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentrat... OMIM:616034
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to growth hormone ... ORPHA:177907
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Lateral ventricle dilatation, Small pituitary gland, Micropenis, Ventriculomegaly OMIM:619479
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Progressive microcephaly, Ambiguous genitalia, Micropenis, Ventric... OMIM:614969
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormal cerebrospinal fluid morphology ORPHA:314404
Trisomy 1Q
Small scrotum, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Agenesis of corpus callosum, V... ORPHA:261344
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, Progressive microcephaly ORPHA:488627
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Pachygyria, Secondary microcephaly, Agyria ORPHA:2148
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, Microcephaly OMIM:304100
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Progressive microcephaly, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Pseudotrisomy 13 Syndrome
Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosencephaly,... OMIM:264480
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Emanuel Syndrome
Microcephaly, Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Micropenis, Dandy-Walker ... ORPHA:96170
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Absent outer dynein arms, Male infertility OMIM:244400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Lateral ventricle dilatation, Pachygyria, Micropenis OMIM:263520
Distal Deletion 10Q
Lateral ventricle dilatation, Spina bifida occulta, Microcephaly ORPHA:96148
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar... ORPHA:91350
Emanuel Syndrome
Microcephaly, Cryptorchidism, Hydrocephalus, Micropenis, Dandy-Walker malformation, Ventriculomegaly OMIM:609029
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Microcephaly ORPHA:858
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:602501
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Secondary microcephaly, Ventriculomegaly, Microcephaly OMIM:619229
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:613001
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Vaginal atresia ORPHA:3301
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Micropenis, Ventriculomegaly OMIM:300514
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Microcephaly OMIM:618302
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Microcephaly, Cryptorchidism, Hydrocephalus, Partial agenesis of the ... OMIM:210710
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Colpocephaly, Ventriculomegaly, Periventricular heterotopia ORPHA:261250
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Secondary microcephaly, Microcephaly OMIM:615599
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:613603
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Type II lissencephaly, Ventriculomegaly ORPHA:272
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Hydrocephalus, Micropenis OMIM:619951
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Polymicrogyria ORPHA:83473
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Shawl s... OMIM:617053
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypospadias, Microcephaly ORPHA:2409
Coccidioidomycosis
Abnormal sperm morphology, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal... ORPHA:228123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Agyria, Type II lissencephaly, Microcephaly, Pachygyria, Cryptorchidism,... OMIM:236670
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Type II lissencephaly, Microcephaly, Hydroceph... ORPHA:370959
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Microcephaly ORPHA:1865
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Focal polymicrogyria, Cryptorchidism, Hydrocephalus, Sex reversal, Mi... OMIM:612651
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Hypospadias, Decreased response to growth hormone stimulation test, Dandy-Walker m... OMIM:220210
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Mic... OMIM:257300
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Pineal cyst, Lateral ventr... OMIM:615873
Desmosterolosis
Abnormal cortical gyration, Microcephaly, Hydrocephalus, Abnormality of neuronal migration, Macro... ORPHA:35107
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum, Uterus didelphys, Gray mat... OMIM:618820
Alkuraya-Kucinskas Syndrome
Small scrotum, Hydrocephalus, Gray matter heterotopia, Lissencephaly, Micropenis, Dandy-Walker ma... OMIM:617822
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Anenc... OMIM:615287
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
H Syndrome
Hydrocephalus, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size, Amenorrhea ORPHA:168569
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Rhombencephalosynapsis
Fusion of the left and right thalami, Hydrocephalus, Abnormality of the uterus, Ventriculomegaly ORPHA:59315
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Secondary microcephaly ORPHA:397951
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Gray matter h... OMIM:615219
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe ORPHA:1555
Kabuki Syndrome 1
Premature thelarche, Microcephaly, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, A... OMIM:147920
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Distal Triplication 15Q
Hydrocele testis, Hydrocephalus, Abnormal external genitalia, Dandy-Walker malformation ORPHA:314588
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Microcephaly, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chor... OMIM:309801
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Hydrocephalus, Microcephaly OMIM:614886
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation, Microcephaly, Secondary microcephaly, Micropenis OMIM:300868
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microcephaly OMIM:613155
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... ORPHA:54595
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Hol... ORPHA:2166
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity ORPHA:363717
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Microcephaly, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callo... OMIM:225790
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Microcephaly OMIM:300558
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal... OMIM:610829
Fg Syndrome Type 1
Hypospadias, Cryptorchidism, Hydrocephalus, Small pituitary gland, Ventriculomegaly ORPHA:93932
3C Syndrome
Hypoplasia of penis, Hypospadias, Hydrocephalus, Abnormality of neuronal migration, Dandy-Walker ... ORPHA:7
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Polymicrogyria, Type II lissencephaly OMIM:615181
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Microcephaly, Hydrocephalus, Colpocephaly, Ventriculomegaly OMIM:619833
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly OMIM:616362
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus, Irregular menstruation, Hypogonadism, Decreased growth hormone res... OMIM:101800
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:250989
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Microcephaly, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum, A... OMIM:615249
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation ORPHA:2822
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:2655
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Abnormal external genitalia, Microcephaly, Cryptorchidism, Hydrocephalus, Lateral ve... OMIM:607872
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida, Microcephaly OMIM:613776
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Whipple Disease
Hydrocephalus, Erectile dysfunction ORPHA:3452
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Desmosterolosis
Microcephaly, Hydrocephalus, Ambiguous genitalia, female, Partial agenesis of the corpus callosum... OMIM:602398
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Gray matter heterotopia, Agen... OMIM:207950
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Uterine leiomyoma, Hydrocephalus, Irregular menstruation OMIM:616482
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele OMIM:130720
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Trisomy 17P
Hydrocephalus, Hypoplasia of penis, Microcephaly ORPHA:261290
Neurooculorenal Syndrome
Ectopic posterior pituitary, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis... OMIM:620305
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, Microcephaly, Cryptorchidism, Colpocephaly, Penile hypospadias OMIM:620083
Jacobsen Syndrome
Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly,... OMIM:147791
Gracile Bone Dysplasia
Hydrocephalus, Micropenis OMIM:602361
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria, Ovarian neoplasm ORPHA:65285
Monosomy 18Q
Microcephaly, Bilateral cryptorchidism, Hydrocephalus, Micropenis, Secondary growth hormone defic... ORPHA:1600
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Microcephaly ORPHA:398189
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Lateral ventricle dilatation, Microcephaly OMIM:300896
Meckel Syndrome, Type 6
Abnormal internal genitalia, Hydrocephalus, Anencephaly, Occipital encephalocele OMIM:612284
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:1834
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:603387
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Subcortical heterotopia, Agyria, Type II lissencephaly, Pachygyria, Hydrocephalus,... OMIM:614643
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Microcephaly, Epispadias, Hydrocephalus, Cryptorchidis... ORPHA:322
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopros... ORPHA:1908
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Microcephaly OMIM:613330
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Oeis Complex
Bifid uterus, Epispadias, Hydrocephalus, Ambiguous genitalia, female, Cryptorchidism, Vesicovagin... OMIM:258040
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora OMIM:207410
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Abnormal cortical gyration, Ventriculomegaly, Microcephaly OMIM:614576
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries ORPHA:2969
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Colpocephaly, Chordee, Hypospadias ORPHA:477993
Meckel Syndrome
Encephalocele, True hermaphroditism, Microcephaly, Cryptorchidism, Hydrocephalus, Male pseudoherm... ORPHA:564
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Age... OMIM:123790
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Cryptorchidism, Macrogyria, Colpocephaly, Pachygyria, Agenesis of corpus callosum, P... OMIM:614866
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Hydrocephalus, Micropenis, Agenesis... OMIM:227646
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, Polymicrogyria, Ventriculomegaly OMIM:616546
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Microcephaly OMIM:182212
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Hypoplastic male external genitalia OMIM:608091
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus ORPHA:1666
Opitz-Kaveggia Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter ... OMIM:305450
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Meckel Syndrome, Type 4
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Micropenis ORPHA:163979
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Hydrocephalus, Partial agenesis of t... OMIM:619895
Meningioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Reduced circulating prolactin concentrat... ORPHA:2495
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly, Microcephaly ORPHA:2462
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Microcephaly, Precocious puberty, Cryptorchidism, Hydrocephalus... ORPHA:2322
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Microcephaly, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus ... OMIM:619512
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:60040
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Apert Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Vaginal atresia, Ventriculomegaly OMIM:101200
Fanconi Anemia
Hypospadias, Spina bifida, Abnormal preputium morphology, Microcephaly, Cryptorchidism, Hydroceph... ORPHA:84
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Microcephaly OMIM:620157
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly ORPHA:238769
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Microcephaly, Cryptorchidism, Hydrocephalus, Abnormality of n... ORPHA:2162
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Microcephaly, Hydrocephalus, Hypoplasia of the ovary, Micropenis, Decreased testicular size OMIM:619321
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Microcephaly OMIM:614098
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly, Microcephaly ORPHA:2169
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Crouzon Syndrome
Hydrocephalus ORPHA:207
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Hydrocephalus, C... ORPHA:2658
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility, Pituitary growth hormone cell adenoma ORPHA:730
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Pentalogy Of Cantrell
Encephalocele, Anencephaly, Hydrocephalus, Hypospadias ORPHA:1335
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Microcephaly OMIM:227650
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Microcephaly OMIM:618367
7Q11.23 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Simplified gyral pattern, Aplasia/Hypoplasia of the f... ORPHA:96121
Carney Complex
Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Elevated circ... ORPHA:1359
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:300960
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosu... OMIM:618476
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, External genital hypoplasia, Microcephaly, Cry... OMIM:249000
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,... OMIM:609053
Pettigrew Syndrome
Microcephaly, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly OMIM:304340
Dubowitz Syndrome
Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Abnormality of female external genitali... ORPHA:235
Nephronophthisis 18
Hydrocephalus OMIM:615862
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1340
Aymé-Gripp Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1272
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:1860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hydrocephalus, Lissencephaly, Holoprosencephaly, Pachygyria, Agenesis of c... OMIM:253800
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Ovarian neoplasm ORPHA:87
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Septate vagina, Periventricular heterotopia, Cryptorchidism, Hydrocel... ORPHA:261537
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker malformation, Ven... OMIM:605627
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly OMIM:614195
Trisomy 8P
Microcephaly, Cryptorchidism, Hydrocephalus, Micropenis, Agenesis of corpus callosum, Dandy-Walke... ORPHA:264450
Hemangioblastoma
Hydrocephalus ORPHA:252054
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Fraser Syndrome 3
Hydrocephalus, Hypoplasia of penis, Small scrotum OMIM:617667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Type II lissencephaly, Microcephaly, Hydrocephalus, Pachygyria, Agenesis of corpus... OMIM:613150
Developmental And Epileptic Encephalopathy 49
Microcephaly, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly OMIM:617281
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation, Microcephaly OMIM:619869
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly OMIM:616538
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Hypospadias OMIM:313850
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Aplasia of the vagina, Aplasia of the uterus, Agenesis of corpus callosum, Ventric... ORPHA:457284
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:612940
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Penoscrotal hypospadias, Septate vagina, Microcephaly,... OMIM:270400
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum ORPHA:220497
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Simplified gyral pattern, Lateral ventricle dilatation, Progressive v... ORPHA:500150
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Septate vagina, Periventricular heterotopia, Cryptorchidism, Hydrocel... ORPHA:261552
Joubert Syndrome
Encephalocele, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration ORPHA:475
6Q Terminal Deletion Syndrome
Hypospadias, Phimosis, Periventricular heterotopia, Abnormality of neuronal migration, Gray matte... ORPHA:75857
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Alexander Disease
Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus, Precocious puberty ORPHA:58
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Peho Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly ORPHA:2836
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Macrogyria, Pachygyria, Agenesis of corp... OMIM:602535
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus OMIM:187600
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Microcephaly ORPHA:261337
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:102500
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Microcephaly, Epispadias, Hydrocephalus, Male pseudoherma... ORPHA:2556
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Secondary mic... OMIM:620113
Genitopatellar Syndrome
Small scrotum, Enlarged labia minora, Microcephaly, Periventricular heterotopia, Cryptorchidism, ... OMIM:606170
Fraser Syndrome 1
Encephalocele, Hypospadias, Abnormal cortical gyration, Microcephaly, Cryptorchidism, Hydrocephal... OMIM:219000
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Abnormality of neuronal migration ORPHA:2318
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Orofaciodigital Syndrome I
Abnormal cortical gyration, Microcephaly, Hydrocephalus, Myelomeningocele, Ovarian cyst, Gray mat... OMIM:311200
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bi... ORPHA:363958
Muenke Syndrome
Hydrocephalus ORPHA:53271
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum ORPHA:220493
Arachnoiditis
Hydrocephalus ORPHA:137817
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Hydrocephalus, Ventriculomegaly ORPHA:2072
Tetrasomy 9P
Cryptorchidism, Hydrocephalus, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pachygyri... ORPHA:3310
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven... ORPHA:1855
Cockayne Syndrome A
Microcephaly, Cryptorchidism, Irregular menstruation, Normal pressure hydrocephalus, Hypogonadism... OMIM:216400
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Agenesis of co... OMIM:617260
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum, Rectovaginal fistula ORPHA:1780
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ovarian cyst, Ventriculomegaly OMIM:618188
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Myelomeningocele, Hypospadias ORPHA:90652
Fanconi Anemia, Complementation Group R
Hydrocephalus, Microcephaly OMIM:617244
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:221120
Bloom Syndrome
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia ORPHA:125
Monosomy 9Q22.3
Hydrocephalus, Ovarian fibroma, Ventriculomegaly ORPHA:77301
Cerebral Visual Impairment
Hydrocephalus, Microcephaly ORPHA:447788
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus callosum, Polymi... ORPHA:228308
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus ORPHA:1106
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Microcephaly, Epispadias, Hydrocephalus, Agenesis of corp... ORPHA:2461
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ... ORPHA:157
Fanconi Anemia, Complementation Group L
Hydrocephalus, Aplasia of the uterus, Micropenis OMIM:614083
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Acrofacial Dysostosis 1, Nager Type
Microcephaly, Aqueductal stenosis, Hydrocephalus, Bicornuate uterus, Polymicrogyria OMIM:154400
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Multiple Sulfatase Deficiency
Hydrocephalus, Microcephaly ORPHA:585
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Microcephaly ORPHA:395
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus OMIM:208150
Rabin-Pappas Syndrome
Hydrocephalus, Microcephaly OMIM:620155
Tetraamelia Syndrome 1
Hydrocephalus, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Basal Cell Nevus Syndrome 1
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida OMIM:109400
Holoprosencephaly 7
Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, P... OMIM:610828
Achondroplasia
Hydrocephalus ORPHA:15
Wolf-Hirschhorn Syndrome
Hypospadias, Microcephaly, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasia of the uter... OMIM:194190
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly ORPHA:2356
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Fontaine Progeroid Syndrome
Small scrotum, Microcephaly, Periventricular heterotopia, Cryptorchidism, Hydrocephalus, Hypoplas... OMIM:612289
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Primary microcephaly, Micro... ORPHA:3472
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Hydrocephalus ORPHA:636
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Anterior pituitary hypoplasia, Lateral ventricle dilatation OMIM:619534
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
22Q11.2 Deletion Syndrome
Hypospadias, Spina bifida, Microcephaly, Cryptorchidism, Hydrocephalus, Meningocele, Occipital my... ORPHA:567
Cockayne Syndrome B
Cryptorchidism, Micropenis, Normal pressure hydrocephalus, Microcephaly OMIM:133540
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration ORPHA:1454
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Peters Plus Syndrome
Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Hypoplasia of the uterus, Clitoral hypo... ORPHA:709
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum, Polycystic ovaries ORPHA:137675
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Hypospadias, Anterior pituitary hypoplasia, Microcephaly, Cryptorchi... OMIM:619841
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus OMIM:620351
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Microcephaly, Cryptorchidism, Hy... OMIM:107480
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:259720
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:538
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Decreased response to growth hormone stimulation test OMIM:616007
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
15Q Overgrowth Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:314585
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hypospadias, Cryptorchidism, Hydrocele testis, Secondary m... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hypospadias, Cryptorchidism, Hydrocele testis, Secondary m... ORPHA:353277
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly, Microcephaly OMIM:618460
Focal Dermal Hypoplasia
Microcephaly, Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Labial hypopl... OMIM:305600
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Bifid uterus, Anencephaly, Gray matter heterotopia, Seve... OMIM:236680
Stromme Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:243605
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Hurler Syndrome
Hydrocephalus OMIM:607014
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Micropenis, Ventriculomegaly ORPHA:457359
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Hypoplasia of... OMIM:261540
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Microcephaly ORPHA:220295
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Hypospadias, Microcephaly, Hydrocephalus, Micropenis, Decreased CSF 5-methyltetrah... OMIM:619475
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal OMIM:114290
Hajdu-Cheney Syndrome
Hydrocephalus, Hypospadias ORPHA:955
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Microcephaly OMIM:277400
Holoprosencephaly 13, X-Linked
Microcephaly, Alobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Semilobar holo... OMIM:301043
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Decreased thalamic volume, Microcephaly ORPHA:168577
Achondroplasia
Hydrocephalus OMIM:100800
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Agenesis of corpus callosum, Dandy-Walker... OMIM:264090
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Mohr Syndrome
Hydrocephalus OMIM:252100
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Raine Syndrome
Hydrocephalus, Microcephaly OMIM:259775
Coffin-Siris Syndrome 12
Cryptorchidism, Hypospadias, Noncommunicating hydrocephalus, Microcephaly OMIM:619325
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Isotretinoin-Like Syndrome
Hydrocephalus, Microcephaly ORPHA:2306
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Medulloblastoma
Hydrocephalus ORPHA:616
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hydrocephalus, Hypospadias, Spina bifida OMIM:304120
Hurler Syndrome
Hydrocephalus ORPHA:93473
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Microcephaly, Cryptorchidism, Hydrocephalus, Long penis, Fron... OMIM:268300
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Split Cord Malformation
Hypospadias, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Mening... ORPHA:573278
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypospadias... ORPHA:3455
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Baller-Gerold Syndrome
Hydrocephalus, Perineal fistula, Rectovaginal fistula, Spina bifida occulta, Agenesis of corpus c... OMIM:218600
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta OMIM:300373
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Microcephaly ORPHA:79282
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Type II lissencephaly, Microcephaly, Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:253280
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Cystic Fibrosis
Male infertility OMIM:219700
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias OMIM:163950
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Panhypopituit... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Panhypopituit... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Panhypopituit... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Panhypopituit... ORPHA:93924
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hypospadias OMIM:312870
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Cystinosis, Nephropathic
Male infertility, Male hypogonadism OMIM:219800
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Limb Body Wall Complex
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta ORPHA:2369
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Osteogenesis Imperfecta
Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly ORPHA:666
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Myelomeningocele OMIM:306955
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Costello Syndrome
Hydrocephalus, Ventriculomegaly OMIM:218040
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Tuberous Sclerosis Complex
Pituitary adenoma, Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum OMIM:164210

Histopathology

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

There is no histopathology data for Spag6l

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 Spag6l.

No publications found that use IMPC mice or data for Spag6l.

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MGI Allele Allele Type Produced
Spag6lem1(IMPC)H Exon Deletion Mice

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