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Gene: Ak8 MGI:1916120

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

adenylate kinase 8

Synonyms:

1190002A17Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ak8 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.

Human diseases associated with Ak8 (0 diseases)
Human diseases predicted to be associated with Ak8 (573 diseases)

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

The table below shows human diseases predicted to be associated to Ak8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:604213
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	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
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:618736
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Pyruvate Dehydrogenase E1-Alpha Deficiency	Partial agenesis of the corpus callosum, Increased CSF lactate, Lateral ventricle dilatation, Abn...	ORPHA:79243
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus	OMIM:619302
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:304100
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation	OMIM:607596
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation	OMIM:610015
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,...	OMIM:618291
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation	ORPHA:284417
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:617751
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:3078
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Ventriculomegaly	ORPHA:420179
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Cach Syndrome	Lateral ventricle dilatation	ORPHA:135
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
Fried Syndrome	Hydrocephalus	ORPHA:85335
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	OMIM:619244
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Central Precocious Puberty In Male	Hydrocephalus, Hypothalamic hamartoma	ORPHA:649929
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:617296
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:488627
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Slc35A2-Cdg	Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:356961
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation, Increased CSF lactate	ORPHA:565624
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation	OMIM:619847
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum	OMIM:207950
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:572798
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Normal pressure hydrocephalus, Lateral ventricle dilatation	ORPHA:300570
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Dandy-Walker malformation, Meningocele, Colpocephaly, Lateral ventricle ...	ORPHA:397715
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul...	OMIM:225790
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle	ORPHA:544488
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Congenital Disorder Of Glycosylation, Type Iig	Lateral ventricle dilatation	OMIM:611209
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Distal Deletion 10Q	Lateral ventricle dilatation, Spina bifida occulta	ORPHA:96148
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Cog5-Cdg	Lateral ventricle dilatation	ORPHA:263487
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly	OMIM:620156
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Den Hoed-De Boer-Voisin Syndrome	Lateral ventricle dilatation, Ventriculomegaly	OMIM:619229
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Hypothalamic hamartoma	OMIM:241800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Lateral ventricle dilatation	ORPHA:2822
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Basel-Vanagaite-Smirin-Yosef Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	ORPHA:464738
Hogue-Janssen Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Mosaic Trisomy 1	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:1692
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation	OMIM:619487
Bainbridge-Ropers Syndrome	Lateral ventricle dilatation	OMIM:615485
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Weaver Syndrome	Lateral ventricle dilatation, Ventriculomegaly	OMIM:277590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Aicardi Syndrome	Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil...	OMIM:304050
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Ventriculomegaly	OMIM:619479
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ve...	ORPHA:370959
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Arachnoiditis	Hydrocephalus	ORPHA:137817
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Gabriele-De Vries Syndrome	Lateral ventricle dilatation	OMIM:617557
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Temple Syndrome	Hydrocephalus	ORPHA:254516
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial agenesis of the corpus c...	OMIM:619895
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Prader-Willi Syndrome Due To Translocation	Lateral ventricle dilatation	ORPHA:177907
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238769
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum	OMIM:615249
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation	OMIM:263520
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Halperin-Birk Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly	OMIM:618651
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
Temple Syndrome	Hydrocephalus	OMIM:616222
Helsmoortel-Van Der Aa Syndrome	Lateral ventricle dilatation, Ventriculomegaly	OMIM:615873
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation	OMIM:300868
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:261344
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Bresek Syndrome	Hydrocephalus	ORPHA:85284
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Fanconi Anemia, Complementation Group I	Colpocephaly, Agenesis of corpus callosum	OMIM:609053
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Lateral ventricle dilatatio...	OMIM:210710
Walker-Warburg Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	ORPHA:899
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly	ORPHA:2169
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Agenesis of corpus callosum	ORPHA:220497
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly	OMIM:614576
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum	OMIM:612940
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Emanuel Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	ORPHA:96170
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Emanuel Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:609029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus, Dandy-Wa...	OMIM:614643
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:620113
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:613150
Czeizel-Losonci Syndrome	Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida	ORPHA:2437
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617822
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Agenesis of corpus callosum	ORPHA:220493
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:613001
3C Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:7
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Ventriculomegaly	ORPHA:1855
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	OMIM:253800
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
16Q24.3 Microdeletion Syndrome	Colpocephaly, Ventriculomegaly	ORPHA:261250
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly	OMIM:614969
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Progressive ventriculomegaly, Dysplastic corpus callosum, Lateral ventricle dilatation, Ventricul...	ORPHA:500150
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker ma...	OMIM:615287
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:607872
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Desmosterolosis	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:35107
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus	ORPHA:2318
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:613686
Desmosterolosis	Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly	OMIM:602398
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:87
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Trisomy 17P	Hydrocephalus	ORPHA:261290
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	OMIM:257300
Lowry-Maclean Syndrome	Hydrocephalus	ORPHA:2409
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract	OMIM:600145
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus	ORPHA:1834
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Fg Syndrome Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:93932
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Agenesis...	OMIM:236670
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Achondroplasia	Hydrocephalus	ORPHA:15
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:228308
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus	ORPHA:1865
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus	OMIM:608091
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Holoprosencephaly 7	Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose...	OMIM:610828
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Holoprosencephaly 13, X-Linked	Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:301043
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:616546
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Choreoacanthocytosis	Lateral ventricle dilatation	ORPHA:2388
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Agenesis of corpus callosum	ORPHA:157
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation	OMIM:619534
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
15Q Overgrowth Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Stromme Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:243605
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus	OMIM:616482
Neurooculorenal Syndrome	Aqueductal stenosis, Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus c...	OMIM:620305
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:457284
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	ORPHA:58
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele	OMIM:130720
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Whipple Disease	Hydrocephalus	ORPHA:3452
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:250989
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Mucopolysaccharidosis, Type Ii	Hydrocephalus	OMIM:309900
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Mirage Syndrome	Hydrocephalus	OMIM:617053
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:101200
Khan-Khan-Katsanis Syndrome	Colpocephaly, Ventriculomegaly	OMIM:618460
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydroc...	OMIM:619512
Craniopharyngioma	Abnormal hypothalamus morphology, Hydrocephalus	ORPHA:54595
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus	ORPHA:1454
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Ventriculomegaly	OMIM:259720
Peroxisome Biogenesis Disorder 5A (Zellweger)	Colpocephaly, Agenesis of corpus callosum	OMIM:614866
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Dextrocardia	Hydrocephalus	ORPHA:1666
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Hurler Syndrome	Hydrocephalus	OMIM:607014
Mucopolysaccharidosis, Type Vii	Hydrocephalus	OMIM:253220
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Cardiofaciocutaneous Syndrome 1	Hydrocephalus	OMIM:115150
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly	OMIM:618820
Achondroplasia	Hydrocephalus	OMIM:100800
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Monosomy 18Q	Hydrocephalus	ORPHA:1600
Mohr Syndrome	Hydrocephalus	OMIM:252100
Medulloblastoma	Hydrocephalus	ORPHA:616
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly	ORPHA:77301
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Otopalatodigital Syndrome Type 2	Encephalocele, Hydrocephalus, Myelomeningocele	ORPHA:90652
Orofaciodigital Syndrome I	Hydrocephalus, Myelomeningocele, Agenesis of corpus callosum, Hypothalamic hamartoma	OMIM:311200
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly	OMIM:620083
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Marshall-Smith Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:602535
Cardiofaciocutaneous Syndrome	Hydrocephalus	ORPHA:1340
Holoprosencephaly	Encephalocele, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Dandy-Walker malformation	ORPHA:2162
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker malfo...	OMIM:249000
Mucopolysaccharidosis Type 1	Hydrocephalus	ORPHA:579
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocephalus	OMIM:300373
7Q11.23 Microduplication Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:96121
H Syndrome	Hydrocephalus	ORPHA:168569
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:261537
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Hurler Syndrome	Hydrocephalus	ORPHA:93473
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr...	ORPHA:228123
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Aymé-Gripp Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1272
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Agenesis of corpus callosum	OMIM:227646
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Jacobsen Syndrome	Hydrocephalus, Holoprosencephaly	OMIM:147791
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:264450
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:261552
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Holoprosencephaly 9	Holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:610829
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Histiocytoid Cardiomyopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Raine Syndrome	Hydrocephalus	OMIM:259775
Mucopolysaccharidosis Type 3	Hydrocephalus, Ventriculomegaly	ORPHA:581
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus	ORPHA:536467
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:2462
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus	ORPHA:505248
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus	OMIM:253200
Marden-Walker Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2461
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Spina bifida, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Spina bifida, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:363958
Smith-Lemli-Opitz Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Holoprosencephaly, Dandy-Wa...	OMIM:270400
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Kabuki Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2322
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2658
Limb Body Wall Complex	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	ORPHA:2369
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus	OMIM:154400
Cryptococcosis	Hydrocephalus	ORPHA:1546
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus	ORPHA:95699
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus	ORPHA:163979
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly	OMIM:619475
6Q Terminal Deletion Syndrome	Colpocephaly	ORPHA:75857
Fanconi Anemia	Hydrocephalus, Spina bifida, Ventriculomegaly	ORPHA:84
Hajdu-Cheney Syndrome	Hydrocephalus	ORPHA:955
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
22Q11.2 Deletion Syndrome	Hydrocephalus, Meningocele, Spina bifida, Occipital myelomeningocele	ORPHA:567
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Myelomeningocele	OMIM:306955
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Agenesis of corpus callosum	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Agenesis of corpus callosum	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Agenesis of corpus callosum	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Agenesis of corpus callosum	ORPHA:93924
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Osteogenesis Imperfecta	Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly	ORPHA:666
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2556
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus	ORPHA:309282
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2072
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus	ORPHA:261337
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Meningioma	Hydrocephalus	ORPHA:2495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Wolf-Hirschhorn Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:194190
Cockayne Syndrome A	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Costello Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:218040
Split Cord Malformation	Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele	ORPHA:573278
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology	ORPHA:353277
Fraser Syndrome 1	Encephalocele, Hydrocephalus, Myelomeningocele	OMIM:219000
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:264090
Oeis Complex	Hydrocephalus, Myelomeningocele	OMIM:258040
Focal Dermal Hypoplasia	Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Myelomeningocele	OMIM:305600
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum	OMIM:218600
Yunis-Varon Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3472
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mild fetal ventriculomegaly, Agenesis of corpus callosum	OMIM:619841
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus	OMIM:619321
Fontaine Progeroid Syndrome	Hydrocephalus	OMIM:612289
Hydrolethalus Syndrome 1	Anencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Severe hydrocephalus	OMIM:236680
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Cockayne Syndrome B	Normal pressure hydrocephalus	OMIM:133540
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Tetrasomy 9P	Hydrocephalus, Dandy-Walker malformation	ORPHA:3310
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Peters Plus Syndrome	Hydrocephalus, Spina bifida occulta, Ventriculomegaly	ORPHA:709
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Peters-Plus Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:261540
Genitopatellar Syndrome	Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3455
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Agenesis of corpus callosum	OMIM:312870
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Spina bifida	OMIM:304120
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus	OMIM:619325
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly	OMIM:107480
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, Agenesis of corpus callosum	OMIM:164210

Histopathology

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

There is no histopathology data for Ak8

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 Ak8.

No publications found that use IMPC mice or data for Ak8.

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
Ak8^{tm39281(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ak8^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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