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Gene: Gdf7 MGI:95690

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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:
growth differentiation factor 7
Synonyms:
BMP12

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 Gdf7 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 Gdf7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... OMIM:220200
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:123155
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... OMIM:604213
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
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility ORPHA:98797
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
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, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
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 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
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 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia OMIM:615771
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
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 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:618266
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, H... OMIM:617967
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:614019
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 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
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... OMIM:618736
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Degeneration of anterior horn cells, Hypoplasia of the ventral pons, Late... OMIM:607596
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy, Increased CSF lactate OMIM:619054
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atrophy ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:614830
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Spermatogenic Failure 17
Male infertility OMIM:617214
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe... OMIM:220220
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos... OMIM:616602
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Syringomyelia, Dandy-Walker malformation OMIM:249400
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Inferior cerebella... OMIM:304100
Spinocerebellar Ataxia, Autosomal Recessive 13
Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Retrocerebel... OMIM:614831
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis atrophy OMIM:213200
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar atrophy, Agenesis of corpus call... ORPHA:300573
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal dentate nucleus m... OMIM:619517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, C... OMIM:613154
Kleeblattschaedel
Hydrocephalus OMIM:148800
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... ORPHA:370022
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Partial agene... ORPHA:171680
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Lateral ventricle dilatation OMIM:221770
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon... ORPHA:370959
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
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
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar ... OMIM:617751
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Cerebellar gliosis, Increased CSF lactate, Lateral ventr... ORPHA:79243
Pontocerebellar Hypoplasia, Type 15
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydr... OMIM:619302
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias ORPHA:250994
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accum... OMIM:618291
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Cerebellar malformation, Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Cerebellar hypoplasia OMIM:620208
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Elo... OMIM:608629
Adams-Oliver Syndrome 2
Retrocerebellar cyst, Hydrocephalus, Cerebellar hypoplasia, Lateral ventricle dilatation OMIM:614219
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:1528
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar hypoplasia, Dandy-Walker malfo... ORPHA:3078
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis atrophy ORPHA:1170
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
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
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation OMIM:610015
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Dandy-Walker ... OMIM:618606
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cerebellar vermis hypoplasia ORPHA:284417
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia ORPHA:352682
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Neural Tube Defects, Susceptibility To
Hydrocephalus, Spina bifida occulta, Anencephaly, Myelomeningocele OMIM:182940
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia ORPHA:488635
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:1532
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cere... OMIM:613153
Hemangioblastoma
Cerebellar edema, Hydrocephalus, Spinal hemangioblastoma, Cerebellar hemangioblastoma ORPHA:252054
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus ORPHA:85335
Cach Syndrome
Cerebellar atrophy, Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atr... ORPHA:135
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Dandy-Walk... OMIM:614175
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Chiari malformation, Syringom... OMIM:207950
Ataxia-Telangiectasia-Like Disorder
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar atrophy ORPHA:251347
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Elongat... OMIM:610688
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Central Precocious Puberty In Male
Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Pontocerebellar atrophy OMIM:617854
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebellar ma... ORPHA:357058
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Abnormal lower motor neuron morphology, Cerebellar atrophy, Degeneratio... ORPHA:276244
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly OMIM:617397
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Alexander Disease
Hydrocephalus, Increased CSF protein concentration, Abnormal dentate nucleus morphology OMIM:203450
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Spinocerebellar Ataxia 2
Dilated fourth ventricle, Cerebellar atrophy, Olivopontocerebellar atrophy, Spinocerebellar tract... OMIM:183090
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypop... OMIM:615191
Spinocerebellar Ataxia 1
Dilated fourth ventricle, Dorsal column degeneration, Spinocerebellar atrophy, Spinocerebellar tr... OMIM:164400
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine conc... OMIM:616034
Machado-Joseph Disease Type 1
Dilated fourth ventricle, Cerebellar atrophy, Spinocerebellar tract degeneration ORPHA:276238
Machado-Joseph Disease Type 2
Dilated fourth ventricle, Cerebellar atrophy, Spinocerebellar tract degeneration ORPHA:276241
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Lateral ventricle dilatation, Cerebellar hypoplasia, Increased CS... ORPHA:565624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst OMIM:615181
Machado-Joseph Disease
Dilated fourth ventricle, Cerebellar atrophy, Spinocerebellar tract degeneration OMIM:109150
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus OMIM:618302
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Abnormal cerebe... ORPHA:397715
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly OMIM:618577
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Lateral ventricle dil... ORPHA:572798
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Coach Syndrome 2
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Slc35A2-Cdg
Cerebellar atrophy, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:613155
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker malformation, Agenesis of cor... OMIM:225790
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... ORPHA:8
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malforma... ORPHA:163961
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Lateral ventricle dilatati... ORPHA:300570
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Cerebellar hypoplasia OMIM:618174
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Craniofacial Dyssynostosis With Short Stature
Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation OMIM:619847
Temple Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulati... ORPHA:254516
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Abnormal cereb... ORPHA:544488
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... OMIM:615842
Zaki Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia OMIM:619648
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Spina bifida occulta, Cerebe... ORPHA:96148
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Lateral ventricle dilatation, Cerebellar vermis hypoplasia OMIM:611209
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology, Hydrocephalus ORPHA:99947
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Cerebellar hypoplasia OMIM:618731
Cog5-Cdg
Cerebellar atrophy, Lateral ventricle dilatation ORPHA:263487
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus ORPHA:1237
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly OMIM:175700
Alexander Disease Type I
Cerebellar atrophy, Hydrocephalus ORPHA:363717
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cerebellar hypopl... OMIM:615574
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle ORPHA:261183
Autosomal Recessive Spastic Paraplegia Type 11
Atrophy of the spinal cord, Lateral ventricle dilatation ORPHA:2822
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walk... OMIM:611134
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Hypospadias, Hydrocephalus ORPHA:171839
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Chiari type I malformation, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Partial agenesis of the corpus callosum, Choroid plex... OMIM:304050
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Rhombencephalosynapsis, Cerebellar vermis hypoplasia, Cerebellar hypopl... OMIM:619306
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Mosaic Trisomy 1
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebell... ORPHA:1692
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malfo... ORPHA:268810
Fanconi Anemia, Complementation Group R
Chiari type I malformation, Hydrocephalus, Tethered cord OMIM:617244
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Tetrasomy 15Q26
Hydrocephalus, Syringomyelia, Dandy-Walker malformation OMIM:614846
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:619229
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Plasminogen Deficiency, Type I
Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Temple Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus, Decreased testicular size OMIM:616222
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom... OMIM:609757
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Nephronophthisis 18
Hydrocephalus OMIM:615862
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Ventriculomegaly OMIM:619479
Weaver Syndrome
Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly OMIM:277590
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar hypoplasia, Hypoplasia of the pons OMIM:300749
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:77298
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Pallister-Hall-Like Syndrome
Occipital encephalocele, Micropenis, Anterior hypopituitarism, Hydrocephalus OMIM:241800
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum ORPHA:464738
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... ORPHA:3376
Bainbridge-Ropers Syndrome
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation OMIM:615485
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation ORPHA:93262
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl... ORPHA:1908
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Holoprosencephaly 14
Cerebellar atrophy, Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial agen... OMIM:619895
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Olivopontocerebellar ... OMIM:212065
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation OMIM:619487
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter... ORPHA:1926
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia OMIM:619869
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Hydrocephalu... OMIM:615287
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Gonadal dysgenesis, male ORPHA:2075
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Arachnoiditis
Hydrocephalus ORPHA:137817
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly OMIM:615630
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation, Ventriculomegaly ORPHA:60040
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Hydrocephalus, Partial absence of cerebellar vermis, Cerebel... OMIM:613150
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Crouzon Syndrome
Hydrocephalus, Chiari malformation, Cerebellar hypoplasia ORPHA:207
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Gabriele-De Vries Syndrome
Lateral ventricle dilatation OMIM:617557
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology ORPHA:2189
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Hydrocephalus, Abnormal dent... ORPHA:59315
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Dandy-Walker malformation, Agen... OMIM:618476
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
B4Galt1-Cdg
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:79332
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformatio... OMIM:617281
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:615249
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Anencephaly, Chiari malformatio... OMIM:249000
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Hydrocephalus, Myelomeningocele, Meningocele, Dermal sinus tract, Hy... OMIM:600145
Oculocerebrocutaneous Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Abnormal cerebellar vermis morph... ORPHA:1647
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:601499
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Vent... OMIM:304340
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus OMIM:620157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar cyst OMIM:616538
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Hypospadias, Decreased response to growth hormone stimulation test, Dandy-Walker m... OMIM:220210
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation OMIM:618367
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Cerebellar vermis hypoplasia OMIM:263520
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation ORPHA:177907
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Walker-Warburg Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus callosum, Abn... ORPHA:899
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Trisomy 1Q
Small scrotum, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Ventriculomegaly ORPHA:261344
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Spinal cord compression, Abnormal cerebellum mor... ORPHA:2356
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Multiple Sulfatase Deficiency
Cerebellar atrophy, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:300868
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly OMIM:614969
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Mening... OMIM:614424
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Micropenis, Ventriculomegaly OMIM:300514
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Meckel Syndrome, Type 6
Abnormal internal genitalia, Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anenceph... OMIM:612284
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Syr... ORPHA:63259
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Fanconi Anemia, Complementation Group I
Colpocephaly, Chiari malformation, Agenesis of corpus callosum OMIM:609053
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Occipital meningocele, Cerebellar vermis... OMIM:243910
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Micropenis, Dandy-Wal... ORPHA:96170
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Shawl s... OMIM:617053
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly, Cerebellar dys... OMIM:617822
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1812
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:220497
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Cerebellar hypoplasia ORPHA:163966
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:613001
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Micropenis, Hydrocephalus, Supernumerary nipple OMIM:619951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebell... OMIM:614643
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Micropenis, Dandy-Walker malformation OMIM:609029
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Hydrocephalus, Abnormality of the parathyroid gl... ORPHA:2969
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Cholelithiasis, Hydrocephalus OMIM:614886
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Muenke Syndrome
Hydrocephalus ORPHA:53271
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly OMIM:614576
Helsmoortel-Van Der Aa Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:615873
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callo... OMIM:210710
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dilated third ventricle, Dandy... ORPHA:434179
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosencephaly, Micropenis OMIM:264480
Lateral Meningocele Syndrome
Tethered cord, Hydrocephalus, Meningocele, Dural ectasia, Chiari type I malformation, Syringomyelia OMIM:130720
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Sex reversal, Microphallus, Holoprosen... OMIM:612651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of corpus callos... OMIM:253800
Gracile Bone Dysplasia
Micropenis, Hydrocephalus OMIM:602361
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:220493
Spondylocostal Dysostosis 4, Autosomal Recessive
Chiari type II malformation, Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Hydrocephalus, Dandy-Walker malformation ORPHA:7
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Hydrocephalus, Dy... OMIM:608091
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Vaginal atresia ORPHA:3301
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypospadias ORPHA:2409
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar... ORPHA:91350
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe ORPHA:1555
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Atrophy of the spinal cord, Hydrocephalus, Ventriculomegaly ORPHA:395
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus, Ambiguous genitalia,... OMIM:257300
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:620113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Cerebellar hypoplasia, Cerebellar m... OMIM:236670
Medulloblastoma
Spinal cord tumor, Hydrocephalus, Cerebellar calcifications, Cerebellar cyst ORPHA:616
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Peho Syndrome
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly ORPHA:2836
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Hydrocephalus, Abnormal sperm motility, Ventriculomegaly ORPHA:244
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... OMIM:309801
Distal Triplication 15Q
Hydrocele testis, Hydrocephalus, Abnormal external genitalia, Dandy-Walker malformation ORPHA:314588
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Lhermitte-Duclos Disease
Hydrocephalus, Enlarged cerebellum ORPHA:65285
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly... ORPHA:2166
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:300896
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus ORPHA:1865
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Rabin-Pappas Syndrome
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Cerebellar hypoplasia OMIM:620155
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology ORPHA:3412
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:2318
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:617260
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... OMIM:258040
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Dural Sinus Malformation
Myelopathy, Abnormal cerebellum morphology, Hydrocephalus ORPHA:97339
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Ventriculomegaly ORPHA:1855
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Chiari malformation, Cerebellar hemisph... ORPHA:500150
Fg Syndrome Type 1
Hypospadias, Cryptorchidism, Hydrocephalus, Small pituitary gland, Ventriculomegaly ORPHA:93932
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora OMIM:207410
Trisomy 17P
Hypoplasia of penis, Hydrocephalus ORPHA:261290
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:1834
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hypospadias, Hydrocephalus, Anencephaly ORPHA:1335
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia OMIM:618590
Apert Syndrome
Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly ORPHA:87
Joubert Syndrome
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:475
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Pfeiffer Syndrome
Hydrocephalus, Chiari malformation OMIM:101600
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Chiari malformation ORPHA:93259
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Dural ectasia OMIM:616914
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Hypospadias OMIM:313850
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:2720
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Ven... OMIM:123790
Desmosterolosis
Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:602398
H Syndrome
Hydrocephalus, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size, Amenorrhea ORPHA:168569
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Stromme Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:243605
Khan-Khan-Katsanis Syndrome
Colpocephaly, Cerebellar vermis hypoplasia, Tethered cord, Ventriculomegaly OMIM:618460
Desmosterolosis
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:35107
15Q Overgrowth Syndrome
Hydrocephalus, Syringomyelia, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:314585
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Uterine leiomyoma, Irregular menstruation, Hydrocephalus OMIM:616482
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly ORPHA:228308
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly OMIM:616546
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Cervical cord compression OMIM:309900
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus, Irregular menstruation, Hypogonadism, Decreased growth hormone res... OMIM:101800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th... OMIM:620305
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:607872
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Hydrocephalus OMIM:617667
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus, Pancreatic hypoplasia ORPHA:1666
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly, Labial hypopl... OMIM:147791
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Aplasia/Hypoplasia... ORPHA:480880
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:157
Meckel Syndrome
Encephalocele, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male ... ORPHA:564
Tetrasomy 5P
Hydrocephalus, Cerebellar hypoplasia ORPHA:3309
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Absent nipple OMIM:104350
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Olivopontocerebellar hypoplasia ORPHA:457284
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hydrocephal... OMIM:619512
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... ORPHA:322
Achondroplasia
Hydrocephalus ORPHA:15
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... ORPHA:54595
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly, Cerebellar vermis hypoplasia, Tethered cord OMIM:620083
Cerebrooculonasal Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Ventriculo... OMIM:605627
Monosomy 18Q
Bilateral cryptorchidism, Micropenis, Hydrocephalus, Secondary growth hormone deficiency ORPHA:1600
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Holoprosencephaly 13, X-Linked
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:301043
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Occipital encephalocele, Hydrocephalus, Cerebellar vermis h... ORPHA:1454
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose... OMIM:610828
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Apert Syndrome
Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Agenesis of corpus callosum, Ve... OMIM:101200
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus OMIM:244400
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus ORPHA:250989
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Colpocephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebellar ... OMIM:614866
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly, Hypoplastic nipples, Ambiguous genitalia OMIM:269860
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Coccidioidomycosis
Abnormal sperm morphology, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal... ORPHA:228123
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum ORPHA:58
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation OMIM:619534
Whipple Disease
Hydrocephalus ORPHA:3452
Split Cord Malformation
Tethered cord, Cervical spina bifida, Hydrocephalus, Myelomeningocele, Lipomyelomeningocele, Spin... ORPHA:573278
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus OMIM:620351
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ovarian cyst, Hyperparathyroidism, Ventriculomegaly OMIM:618188
7Q11.23 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the fallopian tube, Ventriculom... ORPHA:96121
Fanconi Anemia
Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydrocephalus, Azoosper... ORPHA:84
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormality of female external ge... ORPHA:235
Monosomy 9Q22.3
Hydrocephalus, Chiari malformation, Ventriculomegaly ORPHA:77301
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus OMIM:182212
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Holoprosenc... ORPHA:2162
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Hydrocephalus, Micropenis ORPHA:163979
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... ORPHA:2658
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Annular pancreas, Micropenis OMIM:227646
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:305450
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Chiari malformation OMIM:618162
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Holoprosencephaly, Agenesis of cor... OMIM:618820
Sturge-Weber Syndrome
Hydrocephalus, Chiari malformation ORPHA:3205
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1340
Aymé-Gripp Syndrome
Cryptorchidism, Hydrocephalus, Breast hypoplasia, Ventriculomegaly ORPHA:1272
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Full Nf2-Related Schwannomatosis
Myelopathy, Abnormal cerebellum morphology, Hydrocephalus, Spinal cord tumor ORPHA:637
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Hypospadias, Hydrocephalus ORPHA:90652
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Ventriculome... ORPHA:2322
Marshall-Smith Syndrome
Hydrocephalus, Cerebellar hypoplasia, Cervical cord compression, Agenesis of corpus callosum, Ven... OMIM:602535
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Hydrocephalus, Adrenal gland agenesi... OMIM:273395
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Enlarged cerebellum, Chiari type I m... ORPHA:261537
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Trisomy 8P
Cryptorchidism, Hydrocephalus, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Micropeni... ORPHA:264450
Hurler Syndrome
Hydrocephalus OMIM:607014
Mohr Syndrome
Hydrocephalus OMIM:252100
Basal Cell Nevus Syndrome 1
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida OMIM:109400
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Fanconi Anemia, Complementation Group L
Micropenis, Hydrocephalus, Aplasia of the uterus OMIM:614083
Achondroplasia
Hydrocephalus OMIM:100800
Limb Body Wall Complex
Encephalocele, Spina bifida, Abnormal spinal cord morphology, Hydrocephalus, Myelomeningocele, An... ORPHA:2369
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly ORPHA:2462
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Hy... OMIM:270400
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Enlarged cerebellum, Chiari type I m... ORPHA:261552
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Micropenis, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Osteopathia Striata With Cranial Sclerosis
Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocephalus OMIM:300373
Meningioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Reduced circulating prolactin concentrat... ORPHA:2495
Marden-Walker Syndrome
Cerebellar hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Abnormal cerebellar vermis mor... ORPHA:2461
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Hydrocephalus, Ab... ORPHA:2556
Histiocytoid Cardiomyopathy
Cerebellar malformation, Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus, Dural ectasia, Chiari type I malformation, Agenesis of corpus callos... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus, Dural ectasia, Chiari type I malformation, Agenesis of corpus callos... ORPHA:363958
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Enlarged cerebellum ORPHA:477993
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele, Agenesis of corpus callosum, Cerebellar cyst OMIM:311200
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:102500
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Atrophy of the spinal cord, Hydrocephalus ORPHA:79282
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Fraser Syndrome 1
Encephalocele, Hypospadias, Cryptorchidism, Myelomeningocele, Hydrocephalus, Bicornuate uterus, M... OMIM:219000
Hurler Syndrome
Hydrocephalus ORPHA:93473
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Cerebellar atrophy, Ventriculomegaly OMIM:617011
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Raine Syndrome
Hydrocephalus OMIM:259775
Hajdu-Cheney Syndrome
Hydrocephalus, Chiari malformation, Syringomyelia ORPHA:955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar cyst OMIM:253280
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipi... ORPHA:567
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Bicornuate uterus OMIM:154400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
6Q Terminal Deletion Syndrome
Colpocephaly, Cerebellar hypoplasia ORPHA:75857
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261337
Cockayne Syndrome A
Cryptorchidism, Irregular menstruation, Normal pressure hydrocephalus, Hypogonadism, Micropenis, ... OMIM:216400
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:538
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus ORPHA:1106
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Hydrocephalus, Oligozoospermia, Infertility, Micropenis, Dand... ORPHA:3310
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Hypoplasti... OMIM:612289
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Hypospadias, Hydrocephalus, Micropenis, Decreased CSF 5-methyltetrahydrofolate con... OMIM:619475
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Chiari type I malformation, Chiari malformation, Syringomy... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Chiari type I malformation, Chiari malformation, Syringomy... ORPHA:353277
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal OMIM:114290
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia OMIM:306955
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly ORPHA:457359
Wolf-Hirschhorn Syndrome
Hydrocephalus, Tethered cord, Agenesis of corpus callosum, Ventriculomegaly OMIM:194190
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Hydrocephalus, Pheochromocytoma ORPHA:636
Osteogenesis Imperfecta
Hydrocephalus, Syringomyelia, Noncommunicating hydrocephalus, Ventriculomegaly ORPHA:666
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Cerebellar atrophy, Chiari malformation ORPHA:309282
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Hydrocephalus, Cholelithiasis, Ventriculomegaly ORPHA:2072
Costello Syndrome
Chiari type I malformation, Hydrocephalus, Enlarged cerebellum, Ventriculomegaly OMIM:218040
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus OMIM:208150
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Micropenis, Clitoral hypert... ORPHA:3472
Focal Dermal Hypoplasia
Supernumerary nipple, Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Hypop... OMIM:305600
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, R... OMIM:107480
Cockayne Syndrome B
Cryptorchidism, Micropenis, Normal pressure hydrocephalus OMIM:133540
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:93924
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplasia of the uterus, Clitoral hypoplasia, Anteri... ORPHA:709
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Mild fet... OMIM:619841
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Anencephaly, Severe hydrocephalus, Adrenal gland dysgenesis, Abnormal ... OMIM:236680
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Hypoplasia of the thymus, Dandy-Walker ma... OMIM:264090
Baller-Gerold Syndrome
Spina bifida occulta, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum OMIM:218600
Loeys-Dietz Syndrome 1
Hydrocephalus, Chiari malformation OMIM:609192
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hydrocephalus, Hypop... OMIM:261540
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Tuberous Sclerosis Complex
Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocephalus, Pheochromocytoma, Sub... ORPHA:805
Loeys-Dietz Syndrome 2
Hydrocephalus, Chiari malformation, Dural ectasia OMIM:610168
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Spinal cord compression ORPHA:580
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:3455
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hydrocephalus, Hypospadias, Spina bifida OMIM:304120
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Hydrocephalus, Long penis, Frontal encephaloc... OMIM:268300
Coffin-Siris Syndrome 12
Cryptorchidism, Hypospadias, Noncommunicating hydrocephalus OMIM:619325
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Hydrocephalus, Hypospadias, Supernumerary nipple OMIM:312870
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Chiari malformation, 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 Gdf7

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 Gdf7.

No publications found that use IMPC mice or data for Gdf7.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gdf7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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