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Gene: Pigu MGI:3039607

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Gene Summary

Name:
phosphatidylinositol glycan anchor biosynthesis, class U
Synonyms:
5430426F17Rik,  Cdc91l1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Pigutm1b(EUCOMM)Hmgu HOM   Early adult 0.00
hydrocephaly Pigutm1b(EUCOMM)Hmgu HET Early adult 0.00

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Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

1 Images

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Human diseases caused by Pigu mutations

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

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

The table below shows human diseases associated to Pigu by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Kleeblattschaedel
Hydrocephalus OMIM:148800
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Fried Syndrome
Hydrocephalus ORPHA:85335
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... OMIM:616034
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus OMIM:601794
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Nephronophthisis 18
Hydrocephalus OMIM:615862
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Chiari Malformation Type Ii
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida OMIM:207950
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Coach Syndrome 2
Hydrocephalus OMIM:619111
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly ORPHA:1908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Hemangioblastoma
Hydrocephalus ORPHA:252054
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Arachnoiditis
Hydrocephalus ORPHA:137817
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Temple Syndrome
Hydrocephalus ORPHA:254516
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus OMIM:175700
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:616355
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:616362
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus ORPHA:370959
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus OMIM:615219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Crouzon Syndrome
Hydrocephalus ORPHA:207
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:620156
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:619833
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Temple Syndrome
Hydrocephalus OMIM:616222
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:603387
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Pettigrew Syndrome
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Bresek Syndrome
Hydrocephalus ORPHA:85284
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly... OMIM:619895
Muenke Syndrome
Hydrocephalus ORPHA:53271
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus OMIM:272200
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Hydrocephalus OMIM:614576
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele, Dandy-Walker malformation OMIM:614424
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Hydrolethalus
Anencephaly, Hydrocephalus ORPHA:2189
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Emanuel Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:609029
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
3C Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:7
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617822
Emanuel Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:96170
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus ORPHA:59315
Trisomy 1Q
Ventriculomegaly, Hydrocephalus ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal... ORPHA:63259
Walker-Warburg Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Hydrocephalus OMIM:614969
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Peho Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2836
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Hydrocephalus ORPHA:500055
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Trisomy 17P
Hydrocephalus ORPHA:261290
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hydrocephalus OMIM:300514
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Primary Ciliary Dyskinesia
Ventriculomegaly, Hydrocephalus ORPHA:244
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1812
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Fg Syndrome Type 1
Ventriculomegaly, Hydrocephalus ORPHA:93932
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele ORPHA:1865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Achondroplasia
Hydrocephalus ORPHA:15
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Crouzon Syndrome
Hydrocephalus OMIM:123500
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation OMIM:614643
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus OMIM:313850
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Desmosterolosis
Ventriculomegaly, Hydrocephalus ORPHA:35107
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus OMIM:620351
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Anencephaly, Hydrocephalus, Occipital meningocele OMIM:616546
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus OMIM:130720
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Whipple Disease
Hydrocephalus ORPHA:3452
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida OMIM:613776
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Endocrine-Cerebroosteodysplasia
Ventriculomegaly, Holoprosencephaly, Hydrocephalus OMIM:612651
Apert Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:87
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:257300
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules ORPHA:25
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:613603
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Mirage Syndrome
Hydrocephalus OMIM:617053
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Meningoencephalocele, Dandy-Walker malf... OMIM:236670
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Hydrocephalus OMIM:123790
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Lateral ventricle dilatation ORPHA:300570
Desmosterolosis
Ventriculomegaly, Hydrocephalus OMIM:602398
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation OMIM:605627
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Hurler Syndrome
Hydrocephalus OMIM:607014
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Hydrocephalus OMIM:620371
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Hydrocephalus OMIM:259720
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Communicating hydrocephalus, Anencephal... OMIM:615287
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Anencephaly, Hydrocephalus OMIM:269860
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus ORPHA:228308
Monosomy 18Q
Hydrocephalus ORPHA:1600
Alexander Disease
Aqueductal stenosis, Hydrocephalus ORPHA:58
Dextrocardia
Hydrocephalus ORPHA:1666
Achondroplasia
Hydrocephalus OMIM:100800
Congenital Syphilis
Hydrocephalus, CSF pleocytosis ORPHA:499009
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Encephalocele ORPHA:90652
Medulloblastoma
Hydrocephalus ORPHA:616
Orofaciodigital Syndrome Ii
Hydrocephalus OMIM:252100
Holoprosencephaly
Spinal dysraphism, Encephalocele, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation ORPHA:2162
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Coccidioidomycosis
Increased CSF protein concentration, Hypoglycorrhachia, CSF lymphocytic pleiocytosis, Hydrocephal... ORPHA:228123
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Monosomy 9Q22.3
Ventriculomegaly, Hydrocephalus ORPHA:77301
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2166
Apert Syndrome
Ventriculomegaly, Hydrocephalus OMIM:101200
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
H Syndrome
Hydrocephalus ORPHA:168569
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:96121
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Hurler Syndrome
Hydrocephalus ORPHA:93473
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hydrocephalus OMIM:619512
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Communicating hydrocephalus OMIM:618188
Opitz-Kaveggia Syndrome
Hydrocephalus OMIM:305450
Mucopolysaccharidosis Type 3
Ventriculomegaly, Hydrocephalus ORPHA:581
Dubowitz Syndrome
Spina bifida occulta, Hydrocephalus ORPHA:235
Marshall-Smith Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602535
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Stromme Syndrome
Hydrocephalus OMIM:243605
Jacobsen Syndrome
Holoprosencephaly, Hydrocephalus OMIM:147791
Raine Syndrome
Hydrocephalus OMIM:259775
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Aymé-Gripp Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1272
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Neurooculorenal Syndrome
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus OMIM:620305
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Meckel Syndrome
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation ORPHA:564
Gorlin Syndrome
Hydrocephalus ORPHA:377
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Hydrocephalus OMIM:300373
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:457284
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus OMIM:309801
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
Meckel Syndrome, Type 1
Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Hydrocephalus, Anencephaly, ... OMIM:249000
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus OMIM:311200
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Anencephaly ORPHA:2369
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus ORPHA:95699
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Ventriculomegaly, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Spina bifida ORPHA:363958
Kabuki Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2322
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus OMIM:154400
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipital meningocele, Lateral ventri... OMIM:610829
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Craniopharyngioma
Hydrocephalus ORPHA:54595
Fanconi Anemia, Complementation Group D2
Hydrocephalus OMIM:227646
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Ventriculomegaly, Decreased CSF 5-methyltetrahydrofolate concentration OMIM:619475
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Cryptococcosis
Hydrocephalus ORPHA:1546
Fanconi Anemia
Hydrocephalus, Ventriculomegaly, Spina bifida ORPHA:84
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Aqueductal stenosis, Hydrocephalus OMIM:306955
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
Smith-Lemli-Opitz Syndrome
Colpocephaly, Holoprosencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:270400
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus OMIM:617011
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
22Q11.2 Deletion Syndrome
Hydrocephalus, Meningocele, Spina bifida ORPHA:567
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Osteogenesis Imperfecta
Ventriculomegaly, Hydrocephalus, Noncommunicating hydrocephalus ORPHA:666
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Meningioma
Hydrocephalus ORPHA:2495
Microphthalmia With Limb Anomalies
Hydrocephalus ORPHA:1106
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Cockayne Syndrome A
Normal pressure hydrocephalus, Ventriculomegaly OMIM:216400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2072
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hydrocephalus, Colpocephaly, Lateral ventricle dilatation OMIM:210710
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus ORPHA:2556
Fraser Syndrome 1
Myelomeningocele, Hydrocephalus, Encephalocele OMIM:219000
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Gaucher Disease
Ventriculomegaly, Hydrocephalus ORPHA:355
Costello Syndrome
Ventriculomegaly, Hydrocephalus OMIM:218040
Fontaine Progeroid Syndrome
Hydrocephalus OMIM:612289
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 B
Normal pressure hydrocephalus OMIM:133540
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Hydrocephalus OMIM:253280
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus OMIM:619321
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:264090
Wolf-Hirschhorn Syndrome
Ventriculomegaly, Hydrocephalus OMIM:194190
Focal Dermal Hypoplasia
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:305600
Acrofacial Dysostosis, Cincinnati Type
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:616462
Tetrasomy 9P
Hydrocephalus, Dandy-Walker malformation ORPHA:3310
Peters Plus Syndrome
Spina bifida occulta, Ventriculomegaly, Hydrocephalus ORPHA:709
Yunis-Varon Syndrome
Hydrocephalus ORPHA:3472
Fetal Akinesia Deformation Sequence 1
Hydrocephalus OMIM:208150
Baller-Gerold Syndrome
Spina bifida occulta, Hydrocephalus OMIM:218600
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mild fetal ventriculomegaly, Communicating hydrocephalus OMIM:619841
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Lateral ventricle dilatation OMIM:607872
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Neurofibromatosis Type 1
Hydrocephalus ORPHA:636
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Tuberous Sclerosis Complex
Subependymal nodules, Noncommunicating hydrocephalus ORPHA:805
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus ORPHA:3455
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Peters-Plus Syndrome
Ventriculomegaly, Hydrocephalus OMIM:261540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Aqueductal stenosis, Lateral ventricle dilatation OMIM:619534
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Spina bifida OMIM:304120
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus OMIM:619325
Hydrolethalus Syndrome 1
Anencephaly, Dandy-Walker malformation, Severe hydrocephalus OMIM:236680
Townes-Brocks Syndrome 1
Holoprosencephaly, Hydrocephalus OMIM:107480
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus OMIM:312870
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Frontal encephalocele OMIM:268300
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus 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 Pigu

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 Pigu.

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

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
Pigutm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pigutm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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