Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
trophoblast glycoprotein
Synonyms:
5T4 oncofetal antigen,  5T4

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tpbg 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 Tpbg by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Gray matter hetero... OMIM:600348
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:604213
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly OMIM:618709
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Hydrocephalus, Dysgyria ORPHA:352682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:614830
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:613154
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Acalvaria
Holoprosencephaly, Abnormality of neuronal migration, Spina bifida, Hydrocephalus ORPHA:945
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Kleeblattschaedel
Hydrocephalus OMIM:148800
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Ventriculomegaly, Hydrocephalus, Lissencephaly ORPHA:2185
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Ventriculomegaly ORPHA:324416
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus, Type II lissencephaly OMIM:615191
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Hydrocephalus, Alobar holoprosenceph... OMIM:609637
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Lissencephaly, Ventriculomegaly, Pachygyria, Hydrocephalus, Agyria, Ty... OMIM:613153
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:617281
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele OMIM:182940
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Craniotelencephalic Dysplasia
Arrhinencephaly, Lissencephaly, Hydrocephalus ORPHA:1528
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Simplified gyral pattern OMIM:619302
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Polymicrogyria ORPHA:83473
Fried Syndrome
Hydrocephalus ORPHA:85335
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Pettigrew Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:304340
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Hydrocephalus, Gray matter heterotopia,... OMIM:615287
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Gray matte... OMIM:615219
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus OMIM:300864
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:602501
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Hydrocephalus, Polymicrogyria OMIM:615181
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Achondroplasia
Hydrocephalus OMIM:100800
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Hydrocephalus, Ventriculomegaly ORPHA:272
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Hydrocephalus, Ventriculomegaly OMIM:225790
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Chiari Malformation Type Ii
Gray matter heterotopia, Spina bifida, Hydrocephalus, Myelomeningocele OMIM:207950
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly ORPHA:93274
Craniofacial Dyssynostosis
Hydrocephalus ORPHA:1516
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220220
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Lissencephaly, Ventriculomegaly, Pachygyria, Hydrocephalus, Polymicrog... OMIM:614643
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:2655
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly OMIM:602200
Central Precocious Puberty
Hydrocephalus ORPHA:759
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Temple Syndrome
Hydrocephalus OMIM:616222
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:163961
Walker-Warburg Syndrome
Dandy-Walker malformation, Abnormality of neuronal migration, Abnormal cortical gyration, Ventric... ORPHA:899
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Krabbe Disease
Hydrocephalus, Increased CSF protein OMIM:245200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Hydrocephalus, Agyria, Lissencephaly OMIM:615249
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Mental Retardation, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly OMIM:616355
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Gray matter heterotopi... ORPHA:370959
Nephronophthisis 18
Hydrocephalus OMIM:615862
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Pachygyria, Hydrocephalus, Polymicrogyria OMIM:603387
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Hydrocephalus, Ventriculomegaly OMIM:618476
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus OMIM:187600
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220219
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:617822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly OMIM:616538
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly OMIM:175700
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Mend Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:300960
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Mental Retardation, Autosomal Dominant 36
Hydrocephalus, Ventriculomegaly OMIM:616362
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Coach Syndrome 2
Hydrocephalus OMIM:619111
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus OMIM:147800
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:60040
Pallister-Hall-Like Syndrome
Hydrocephalus OMIM:241800
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Temple Syndrome
Hydrocephalus ORPHA:254516
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Spinal dysraphism ORPHA:1908
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomegaly, Pachygyria, Macr... ORPHA:35107
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:1647
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Meckel Syndrome, Type 4
Dandy-Walker malformation, Meningocele, Hydrocephalus, Anencephaly OMIM:611134
Hemangioblastoma
Hydrocephalus ORPHA:252054
Arachnoiditis
Hydrocephalus ORPHA:137817
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Lissencephaly, Hydrocephalus OMIM:612938
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Aqueductal stenosis ORPHA:1136
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Hydrocephalus, Ventriculomegaly OMIM:614576
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Lissencephaly, Pachygyria, Hydrocephalus, Polymicrogyria, Agyria, Type II liss... OMIM:253800
Meckel Syndrome, Type 3
Dandy-Walker malformation, Hydrocephalus OMIM:607361
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Joubert Syndrome 14
Dandy-Walker malformation, Hydrocephalus OMIM:614424
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Crouzon Disease
Hydrocephalus ORPHA:207
3C Syndrome
Dandy-Walker malformation, Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly ORPHA:7
Joubert Syndrome
Abnormality of neuronal migration, Hydrocephalus, Polymicrogyria ORPHA:475
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:1860
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Hydrocephalus OMIM:220210
Hydrolethalus
Arrhinencephaly, Hydrocephalus, Anencephaly ORPHA:2189
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly OMIM:612284
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria ORPHA:65285
Gorlin Syndrome
Hydrocephalus ORPHA:377
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Bresek Syndrome
Hydrocephalus ORPHA:85284
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Muenke Syndrome
Hydrocephalus ORPHA:53271
Iniencephaly
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Lissencephaly, Spina... ORPHA:63259
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Hydrocephalus ORPHA:2318
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Joubert Syndrome With Renal Defect
Hydrocephalus, Polymicrogyria ORPHA:220497
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Pachygyria, Hydrocephalus, Polymicrogyria ORPHA:157
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate ORPHA:90065
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein, Ventriculomegaly OMIM:272200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Emanuel Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:96170
Primary Ciliary Dyskinesia
Abnormal sperm motility, Hydrocephalus, Ventriculomegaly ORPHA:244
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
B4Galt1-Cdg
Dandy-Walker malformation, Hydrocephalus ORPHA:79332
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Pachygyria, Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:613150
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Ventriculomegaly, Pachygyria, Hydrocephalus, Polymicrogyria ORPHA:228308
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Simplified gyral pattern, Lissencephaly, Polymicrogyria, Dilation ... ORPHA:300570
Griscelli Syndrome
Hydrocephalus ORPHA:381
Joubert Syndrome With Ocular Defect
Hydrocephalus, Polymicrogyria ORPHA:220493
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:459061
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Ventriculomegaly, Pachygyria, Hydrocephalus, Polymicrogyria, Agyria, T... OMIM:236670
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Hydrocephalus, Polymicrogyria OMIM:264480
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Plasminogen Deficiency, Type I
Dandy-Walker malformation, Hydrocephalus OMIM:217090
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polymicrogyria, Hydrocephalus, Anencephaly OMIM:616546
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:612582
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Chromosome 6Q24-Q25 Deletion Syndrome
Dilation of lateral ventricles, Hydrocephalus OMIM:612863
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Hydranencephaly ORPHA:2839
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Endocrine-Cerebroosteodysplasia
Holoprosencephaly, Hydrocephalus, Ventriculomegaly OMIM:612651
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Hydrocephalus, Ventriculomegaly ORPHA:500055
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly OMIM:300514
Popov-Chang syndrome
Hydrocephalus OMIM:618428
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus OMIM:259720
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1812
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly ORPHA:93932
Achondroplasia
Hydrocephalus ORPHA:15
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Hydrocephalus ORPHA:1454
Trisomy 17P
Hydrocephalus ORPHA:261290
Trisomy 1Q
Hydrocephalus, Ventriculomegaly ORPHA:261344
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Marfanoid-Progeroid-Lipodystrophy Syndrome
Asymmetric ventricles, Hydrocephalus OMIM:616914
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Orofaciodigital Syndrome I
Abnormal cortical gyration, Gray matter heterotopia, Hydrocephalus, Myelomeningocele OMIM:311200
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Adams-Oliver Syndrome
Hydrocephalus ORPHA:974
Hyperphosphatasia With Mental Retardation Syndrome 1
Hydrocephalus OMIM:239300
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Hydrocephalus OMIM:613001
Whipple Disease
Hydrocephalus ORPHA:3452
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Arachnoid Cyst
Holoprosencephaly, Hydrocephalus, Enlarged fossa interpeduncularis ORPHA:2356
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis OMIM:608091
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus ORPHA:1865
Distal Tetrasomy 15Q
Dandy-Walker malformation, Hydrocephalus ORPHA:314588
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus OMIM:224400
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Polymicrogyria, Aqueductal stenosis OMIM:154400
7Q11.23 Microduplication Syndrome
Hydrocephalus, Simplified gyral pattern, Ventriculomegaly ORPHA:96121
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly ORPHA:1335
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Dural Sinus Malformation
Hydrocephalus ORPHA:97339
Holoprosencephaly
Dandy-Walker malformation, Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, S... ORPHA:2162
Hurler Syndrome
Hydrocephalus OMIM:607014
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subependymal nodules, Ventriculomegaly ORPHA:25
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Semilobar holoprosencephaly OMIM:610828
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Hydrocephalus OMIM:305450
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Campomelic Dysplasia
Hydrocephalus OMIM:114290
Mucopolysaccharidosis, Type Vi
Hydrocephalus OMIM:253200
Mirage Syndrome
Hydrocephalus OMIM:617053
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus OMIM:619575
15Q Overgrowth Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:314585
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Desmosterolosis
Hydrocephalus, Ventriculomegaly OMIM:602398
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Raine Syndrome
Hydrocephalus OMIM:259775
Dextrocardia
Hydrocephalus ORPHA:1666
Mohr Syndrome
Hydrocephalus OMIM:252100
Alexander Disease
Hydrocephalus, Aqueductal stenosis ORPHA:58
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Hydrocephalus, Anencephaly OMIM:269860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Pachygyria, Hydrocephalus, Polymicrogyria, Type II lissencephaly OMIM:253280
Mosaic Variegated Aneuploidy Syndrome 1
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:257300
Otopalatodigital Syndrome Type 2
Hydrocephalus, Myelomeningocele ORPHA:90652
Medulloblastoma
Hydrocephalus ORPHA:616
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
H Syndrome
Hydrocephalus ORPHA:168569
Coccidioidomycosis
CSF lymphocytic pleiocytosis, Hypoglycorrhachia, CSF pleocytosis, Hydrocephalus, Increased CSF pr... ORPHA:228123
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Hypoplasminogenemia
Dandy-Walker malformation, Hydrocephalus ORPHA:722
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Jacobsen Syndrome
Holoprosencephaly, Hydrocephalus OMIM:147791
Otopalatodigital Syndrome, Type Ii
Hydrocephalus OMIM:304120
Aymé-Gripp Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1272
Monosomy 18Q
Hydrocephalus ORPHA:1600
Hurler Syndrome
Hydrocephalus ORPHA:93473
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis OMIM:619512
Osteopetrosis, Autosomal Recessive 7
Dilation of lateral ventricles, Hydrocephalus OMIM:612301
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Dubowitz Syndrome
Spina bifida occulta, Hydrocephalus ORPHA:235
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Hydrocephalus OMIM:300373
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hydrocephalus, Ventriculomegaly OMIM:617011
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus OMIM:109400
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Holoprosencephaly 9
Holoprosencephaly, Hydrocephalus, Abnormal cortical gyration OMIM:610829
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Cerebrooculonasal Syndrome
Hydrocephalus OMIM:605627
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus OMIM:309801
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Stromme Syndrome
Hydrocephalus OMIM:243605
Smith-Lemli-Opitz Syndrome
Holoprosencephaly, Dandy-Walker malformation, Hydrocephalus, Periventricular heterotopia OMIM:270400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:457284
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Meckel Syndrome
Dandy-Walker malformation, Lobar holoprosencephaly, Hydrocephalus, Anencephaly ORPHA:564
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Trisomy 8P
Dandy-Walker malformation, Hydrocephalus ORPHA:264450
Hydrolethalus Syndrome 1
Dandy-Walker malformation, Abnormal cortical gyration, Arrhinencephaly, Severe hydrocephalus, Ane... OMIM:236680
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:2462
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:2166
Craniopharyngioma
Hydrocephalus ORPHA:54595
Meckel Syndrome, Type 1
Dandy-Walker malformation, Hydrocephalus, Anencephaly OMIM:249000
Fanconi Anemia, Complementation Group D2
Hydrocephalus OMIM:227646
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2322
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus, Ventriculomegaly ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus, Ventriculomegaly ORPHA:363958
Knobloch Syndrome
Hydrocephalus ORPHA:1571
22Q11.2 Deletion Syndrome
Meningocele, Arrhinencephaly, Occipital myelomeningocele, Spina bifida, Hydrocephalus ORPHA:567
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus ORPHA:95699
Fanconi Anemia
Spina bifida, Hydrocephalus, Ventriculomegaly ORPHA:84
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Baller-Gerold Syndrome
Spina bifida occulta, Hydrocephalus, Polymicrogyria OMIM:218600
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Mend Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:401973
Cryptococcosis
Hydrocephalus ORPHA:1546
Fontaine Progeroid Syndrome
Gray matter heterotopia, Hydrocephalus, Periventricular heterotopia OMIM:612289
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Craniofacial Microsomia
Hydrocephalus OMIM:164210
Limb Body Wall Complex
Anencephaly, Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta ORPHA:2369
Osteogenesis Imperfecta
Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly ORPHA:666
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly OMIM:619475
Tetrasomy 9P
Dandy-Walker malformation, Pachygyria, Hydrocephalus, Polymicrogyria, Lissencephaly ORPHA:3310
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Fraser Syndrome 1
Abnormal cortical gyration, Hydrocephalus, Myelomeningocele OMIM:219000
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
Meningioma
Hydrocephalus ORPHA:2495
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Neurofibromatosis Type 2
Hydrocephalus ORPHA:637
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2072
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Arrhinencephaly, Hydrocephalus ORPHA:1106
Facial Dysmorphism With Multiple Malformations
Hydrocephalus OMIM:227255
Yunis-Varon Syndrome
Pachygyria, Arrhinencephaly, Hydrocephalus ORPHA:3472
Wiedemann-Rautenstrauch Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:264090
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus ORPHA:2556
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:457359
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93924
Cockayne Syndrome A
Normal pressure hydrocephalus OMIM:216400
Costello Syndrome
Hydrocephalus, Ventriculomegaly OMIM:218040
Cockayne Syndrome B
Normal pressure hydrocephalus OMIM:133540
Oeis Complex
Hydrocephalus, Myelomeningocele OMIM:258040
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Chromosome 1P36 Deletion Syndrome, Distal
Dilation of lateral ventricles, Hydrocephalus, Polymicrogyria, Pachygyria OMIM:607872
Focal Dermal Hypoplasia
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:305600
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Fetal Akinesia Deformation Sequence 1
Hydrocephalus OMIM:208150
Neurofibromatosis Type 1
Hydrocephalus ORPHA:636
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Polymicrogyria ORPHA:3455
Wolf-Hirschhorn Syndrome
Hydrocephalus, Ventriculomegaly OMIM:194190
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus OMIM:619321
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Peters Plus Syndrome
Spina bifida occulta, Hydrocephalus, Ventriculomegaly ORPHA:709
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilation of lateral ventricles, Hydrocephalus, Aqueductal stenosis OMIM:619534
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Peters-Plus Syndrome
Hydrocephalus, Ventriculomegaly OMIM:261540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Split Cord Malformation
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele ORPHA:573278
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus OMIM:312870
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus OMIM:619325
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Roberts-Sc Phocomelia Syndrome
Hydrocephalus OMIM:268300

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 Tpbg

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 Tpbg.

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

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MGI Allele Allele Type Produced
Tpbgtm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Tpbgtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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