Gene Summary

phosphatidylinositol glycan anchor biosynthesis, class U
5430426F17Rik,  Cdc91l1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Download data as:  TSV  XLS

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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.

Gross Pathology and Tissue Collection


1 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

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
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
Matching phenotypes Source
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
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
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Hydrocephalus, Increased CSF protein ORPHA:251912
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
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
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Hydrocephalus OMIM:148800
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus OMIM:300864
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Fried Syndrome
Hydrocephalus ORPHA:85335
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Hydrocephalus OMIM:100800
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Central Precocious Puberty
Hydrocephalus ORPHA:759
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation OMIM:220220
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Nephronophthisis 18
Hydrocephalus OMIM:615862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Ventriculomegaly, Occipital encephalocele, Dandy-Walker malformation OMIM:615287
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly OMIM:602200
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Temple Syndrome
Hydrocephalus OMIM:616222
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Krabbe Disease
Hydrocephalus, Increased CSF protein OMIM:245200
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele OMIM:241800
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Meningocele, Encephalocele, Dandy-Walker malformation OMIM:611134
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy OMIM:207950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Coach Syndrome 2
Hydrocephalus OMIM:619111
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly OMIM:175700
Hydrocephalus ORPHA:137817
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Encephalocele ORPHA:1908
Hydrocephalus ORPHA:252054
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Encephalocele OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Temple Syndrome
Hydrocephalus ORPHA:254516
Intellectual Developmental Disorder, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly OMIM:616355
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Ventriculomegaly OMIM:616362
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:370959
Crouzon Syndrome
Hydrocephalus ORPHA:207
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly OMIM:618476
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Ventriculomegaly OMIM:619833
Hydrocephalus, Anencephaly, Arrhinencephaly ORPHA:2189
Bresek Syndrome
Hydrocephalus ORPHA:85284
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Gorlin Syndrome
Hydrocephalus ORPHA:377
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Muenke Syndrome
Hydrocephalus ORPHA:53271
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Holoprosencephaly 14
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Ventriculomegaly... OMIM:619895
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein OMIM:272200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Ventriculomegaly, Meningocele ORPHA:1136
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly ORPHA:77298
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Emanuel Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:96170
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Trisomy 1Q
Hydrocephalus, Ventriculomegaly ORPHA:261344
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly OMIM:617822
Hydrocephalus, Ventriculomegaly ORPHA:59315
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... ORPHA:63259
Walker-Warburg Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly OMIM:614969
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus ORPHA:2969
16P13.2 Microdeletion Syndrome
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly OMIM:300514
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Hydrocephalus, Ventriculomegaly, Holoprosencephaly OMIM:612651
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Popov-Chang syndrome
Hydrocephalus OMIM:618428
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1812
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:614643
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus OMIM:612863
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Holoprosencephaly 7
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Semilobar holoprosencephaly OMIM:610828
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly ORPHA:93932
Hydrocephalus ORPHA:15
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele ORPHA:1865
Arachnoid Cyst
Hydrocephalus, Enlarged fossa interpeduncularis, Holoprosencephaly, Encephalocele ORPHA:2356
Trisomy 17P
Hydrocephalus ORPHA:261290
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry OMIM:616914
Dural Sinus Malformation
Hydrocephalus, Myelopathy ORPHA:97339
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Hydrocephalus, Ventriculomegaly ORPHA:35107
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Distal Tetrasomy 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Vacterl With Hydrocephalus
Hydrocephalus, Spina bifida, Aqueductal stenosis, Arrhinencephaly ORPHA:3412
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Whipple Disease
Hydrocephalus ORPHA:3452
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Cousin Syndrome
Hydrocephalus, Hydranencephaly OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Ventriculomegaly, Meningoencephalocele, Occipital encephalocele, Dandy-Walker malf... OMIM:236670
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Hydrocephalus, Ventriculomegaly OMIM:602398
Mirage Syndrome
Hydrocephalus OMIM:617053
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus ORPHA:300570
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Hurler Syndrome
Hydrocephalus OMIM:607014
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:605627
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Sacral Defect With Anterior Meningocele
Myelomeningocele, Hydrocephalus, Myeloschisis, Meningocele OMIM:600145
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele ORPHA:1454
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly OMIM:616546
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Hydrocephalus ORPHA:1666
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Monosomy 18Q
Hydrocephalus ORPHA:1600
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Encephalocele ORPHA:90652
Hydrocephalus, Holoprosencephaly, Spinal dysraphism, Encephalocele, Dandy-Walker malformation ORPHA:2162
7Q11.23 Microduplication Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:96121
Mohr Syndrome
Hydrocephalus OMIM:252100
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Alexander Disease
Hydrocephalus, Aqueductal stenosis ORPHA:58
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Hydrocephalus, CSF pleocytosis, Hypoglycorrhachia, Increased CSF protein, CSF lymphocytic pleiocy... ORPHA:228123
Hydrocephalus ORPHA:616
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:257300
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis OMIM:154400
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
H Syndrome
Hydrocephalus ORPHA:168569
Hurler Syndrome
Hydrocephalus ORPHA:93473
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele ORPHA:1571
Otopalatodigital Syndrome, Type Ii
Hydrocephalus OMIM:304120
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hydrocephalus, Ventriculomegaly OMIM:617011
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle OMIM:619575
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly OMIM:147791
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Stromme Syndrome
Hydrocephalus OMIM:243605
Aymé-Gripp Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1272
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2166
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Opitz-Kaveggia Syndrome
Hydrocephalus OMIM:305450
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis OMIM:619512
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Raine Syndrome
Hydrocephalus OMIM:259775
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Cervical myelopathy OMIM:253200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Basal Cell Nevus Syndrome
Hydrocephalus, Spina bifida OMIM:109400
Meckel Syndrome
Hydrocephalus, Anencephaly, Encephalocele, Lobar holoprosencephaly, Dandy-Walker malformation ORPHA:564
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Communicating hydrocephalus ORPHA:168577
Marshall-Smith Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602535
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:457284
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Meckel Syndrome, Type 1
Hydrocephalus, Dilated fourth ventricle, Anencephaly, Ventriculomegaly, Occipital encephalocele, ... OMIM:249000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Neurofibromatosis, Type I
Hydrocephalus, Spina bifida, Aqueductal stenosis OMIM:162200
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus OMIM:612301
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Colpocephaly OMIM:309801
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus OMIM:311200
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Hydrocephalus ORPHA:54595
Fanconi Anemia, Complementation Group D2
Hydrocephalus OMIM:227646
22Q11.2 Deletion Syndrome
Hydrocephalus, Arrhinencephaly, Meningocele, Spina bifida, Occipital myelomeningocele ORPHA:567
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2322
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Encephalocele, Spina bifida ORPHA:2369
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Spina bifida, Ventriculomegaly ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Spina bifida, Ventriculomegaly ORPHA:363958
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Ventriculomegaly, Decreased CSF 5-methyltetrahydrofolate concentration OMIM:619475
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus ORPHA:95699
Fanconi Anemia
Hydrocephalus, Spina bifida, Ventriculomegaly ORPHA:84
Hydrocephalus ORPHA:1546
Neurofibromatosis Type 2
Hydrocephalus, Myelopathy ORPHA:637
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Colpocephaly, Dandy-Walker malformation, Holoprosencephaly OMIM:270400
Campomelic Dysplasia
Spinal dysraphism, Hydrocephalus, Spina bifida OMIM:114290
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Osteogenesis Imperfecta
Hydrocephalus, Ventriculomegaly, Noncommunicating hydrocephalus ORPHA:666
Holoprosencephaly 9
Hydrocephalus, Holoprosencephaly OMIM:610829
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
Facial Dysmorphism With Multiple Malformations
Hydrocephalus OMIM:227255
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Hydrocephalus ORPHA:538
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Hydrocephalus, Aqueductal stenosis OMIM:306955
Hydrocephalus ORPHA:2495
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2072
Microphthalmia With Limb Anomalies
Hydrocephalus, Arrhinencephaly ORPHA:1106
Cockayne Syndrome A
Normal pressure hydrocephalus, Ventriculomegaly OMIM:216400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Costello Syndrome
Hydrocephalus, Ventriculomegaly OMIM:218040
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus ORPHA:2556
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta OMIM:218600
Fraser Syndrome 1
Myelomeningocele, Hydrocephalus, Encephalocele OMIM:219000
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
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
Fontaine Progeroid Syndrome
Hydrocephalus OMIM:612289
Cockayne Syndrome B
Normal pressure hydrocephalus OMIM:133540
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus OMIM:619321
Focal Dermal Hypoplasia
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:305600
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:264090
Fetal Akinesia Deformation Sequence 1
Hydrocephalus OMIM:208150
Yunis-Varon Syndrome
Hydrocephalus, Arrhinencephaly ORPHA:3472
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Wolf-Hirschhorn Syndrome
Hydrocephalus, Ventriculomegaly OMIM:194190
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mild fetal ventriculomegaly, Communicating hydrocephalus OMIM:619841
Neurofibromatosis Type 1
Hydrocephalus ORPHA:636
Split Cord Malformation
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele ORPHA:573278
Hydrolethalus Syndrome 1
Severe hydrocephalus, Anencephaly, Arrhinencephaly, Dandy-Walker malformation OMIM:236680
Tetrasomy 9P
Hydrocephalus, Dandy-Walker malformation ORPHA:3310
Tuberous Sclerosis Complex
Subependymal nodules, Noncommunicating hydrocephalus ORPHA:805
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Peters Plus Syndrome
Hydrocephalus, Ventriculomegaly, Spina bifida occulta ORPHA:709
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus OMIM:607872
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus ORPHA:3455
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
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly OMIM:107480
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Aqueductal stenosis OMIM:619534
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus OMIM:619325
Kabuki Syndrome 1
Hydrocephalus OMIM:147920
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus OMIM:312870
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Frontal encephalocele OMIM:268300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia
Hydrocephalus, Occipital encephalocele OMIM:164210


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.

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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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